{ "uniprot_canonical_ac": "Q9Y450-1", "uniprot_ac": "Q9Y450", "uniprot_id": "HBS1L_HUMAN", "mass": { "chemical_mass": 75473.0, "monoisotopic_mass": 75473.0 }, "refseq": { "ac": "NP_001138630", "name": "HBS1-like protein isoform 2", "summary": "This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138630" }, "gene_names": [ { "name": "HBS1L", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9Y450", "id": "Q9Y450" }, { "name": "EF-1a; eRF3c; ERFS; HBS1; HSPC276", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138630", "id": "NP_001138630" }, { "name": "HBS1L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138630", "id": "NP_001138630" }, { "name": "HBS1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9Y450", "id": "Q9Y450" }, { "name": "KIAA1038", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9Y450", "id": "Q9Y450" }, { "name": "hCG_2039561", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9Y450", "id": "Q9Y450" } ], "protein_names": [ { "name": "HBS1-like protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9Y450" }, { "name": "3.6.5.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9Y450" }, { "name": "ERFS", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9Y450" }, { "name": "HBS1-like protein isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138630", "id": "NP_001138630" }, { "name": "Hsp70 subfamily B suppressor 1-like protein; HBS1-like protein; ERF3-similar protein; eRF3 family member", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138630", "id": "NP_001138630" } ], "function": [ { "annotation": "GTPase component of the Pelota-HBS1L complex, a complex that recognizes stalled ribosomes and triggers the No-Go Decay (NGD) pathway (PubMed:21448132, PubMed:23667253, PubMed:27863242). The Pelota-HBS1L complex recognizes ribosomes stalled at the 3' end of an mRNA and engages stalled ribosomes by destabilizing mRNA in the mRNA channel (PubMed:27863242). Following mRNA extraction from stalled ribosomes by the SKI complex, the Pelota-HBS1L complex promotes recruitment of ABCE1, which drives the disassembly of stalled ribosomes, followed by degradation of damaged mRNAs as part of the NGD pathway (PubMed:21448132, PubMed:32006463).", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450#function" }, { "database": "PubMed", "id": "21448132", "url": "https://glygen.org/publication/PubMed/21448132" }, { "database": "PubMed", "id": "23667253", "url": "https://glygen.org/publication/PubMed/23667253" }, { "database": "PubMed", "id": "27863242", "url": "https://glygen.org/publication/PubMed/27863242" }, { "database": "PubMed", "id": "32006463", "url": "https://glygen.org/publication/PubMed/32006463" } ] }, { "annotation": "HBS1L-related genetic variants play a key role in control of fetal hemoglobin levels.", "evidence": [ { "database": "RefSeq", "id": "NP_001138630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138630" }, { "database": "PubMed", "id": "17592125", "url": "https://glygen.org/publication/PubMed/17592125" } ] }, { "annotation": "Induction of fetal hemoglobin: Lentiviral shRNA knockdown of HBS1L in beta0-thalassemia/HbE erythroid cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001138630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138630" }, { "database": "PubMed", "id": "36888630", "url": "https://glygen.org/publication/PubMed/36888630" } ] }, { "annotation": "Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001138630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138630" }, { "database": "PubMed", "id": "34099068", "url": "https://glygen.org/publication/PubMed/34099068" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001138630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138630" }, { "database": "PubMed", "id": "18667698", "url": "https://glygen.org/publication/PubMed/18667698" } ] }, { "annotation": "Patients carrying Fetal Hemoglobin-boosting alleles of BCL11A and HMIP-2 ( (HBS1L-MYB) were associated with milder clinical phenotypes. Higher HbF concentration may underlie this effect.", "evidence": [ { "database": "RefSeq", "id": "NP_001138630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138630" }, { "database": "PubMed", "id": "32447424", "url": "https://glygen.org/publication/PubMed/32447424" } ] }, { "annotation": "The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts.", "evidence": [ { "database": "RefSeq", "id": "NP_001138630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138630" }, { "database": "PubMed", "id": "17712044", "url": "https://glygen.org/publication/PubMed/17712044" } ] }, { "annotation": "This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001138630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138630" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs754947479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754947479" }, { "id": "rs754947479", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754947479" }, { "id": "rs754947479", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754947479" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 110, "end_pos": 110, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKF->NKS).", "chr_id": "6", "chr_pos": "135039674", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F110", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772797537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772797537" }, { "id": "rs772797537", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772797537" }, { "id": "rs772797537", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772797537#frequency_tab" }, { "id": "rs772797537", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772797537" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 152, "end_pos": 152, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->A).", "chr_id": "6", "chr_pos": "135039594", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S152", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749736698", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749736698" }, { "id": "rs749736698", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749736698" }, { "id": "rs749736698", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749736698#frequency_tab" }, { "id": "rs749736698", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749736698" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 152, "end_pos": 152, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "6", "chr_pos": "135002818", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S152", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772797537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772797537" }, { "id": "rs772797537", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772797537" }, { "id": "rs772797537", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772797537#frequency_tab" }, { "id": "rs772797537", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772797537" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 152, "end_pos": 152, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "6", "chr_pos": "135039594", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S152", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766118524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766118524" }, { "id": "rs766118524", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs766118524" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 164, "end_pos": 164, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KMT->NMT).", "chr_id": "6", "chr_pos": "134996860", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K164", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766015343", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766015343" }, { "id": "rs766015343", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766015343" }, { "id": "rs766015343", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766015343#frequency_tab" }, { "id": "rs766015343", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766015343" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 273, "end_pos": 273, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KST->NST).", "chr_id": "6", "chr_pos": "134996923", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K273", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1187224134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1187224134" }, { "id": "rs1187224134", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1187224134" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 356, "end_pos": 356, "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NMI->NMS).", "chr_id": "6", "chr_pos": "134993774", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I356", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1468990164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468990164" }, { "id": "rs1468990164", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1468990164" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 551, "end_pos": 551, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLT->NLT).", "chr_id": "6", "chr_pos": "134979214", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S551", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "82.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112339" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "83.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112339" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "87.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112339" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "80.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112339" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112339" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112339" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "78.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112339" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "86.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112339" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "86.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112339" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "78.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112339" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "90.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112339" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "87.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112339" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112339" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9Y450", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9Y450" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q9Y450", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9Y450" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q9Y450", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9Y450" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" } ], "common_name": "Human" } ], "gene": [ { "name": "HBS1L", "url": "https://www.uniprot.org/uniprot/Q9Y450", "locus": { "chromosome": "6", "start_pos": 134960378, "end_pos": 135103056, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000112339", "url": "https://www.ensembl.org/id/ENSG00000112339" } ] } } ], "crossref": [ { "id": "ENSG00000112339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112339", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd01883", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd01883", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd04093", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04093", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd16267", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd16267", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "HBS1L", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBS1L", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "10767", "url": "https://www.ncbi.nlm.nih.gov/gene/10767", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "4834", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4834", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q9Y450", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9Y450*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000795", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000795", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004160", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004160", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004161", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004161", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009000", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009000", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009001", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009001", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015033", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015033", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037189", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037189", "database": "InterPro", "categories": [ "Protein 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Classification" ] }, { "id": "PTHR23115", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23115", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23115:SF188", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23115:SF188", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "5LZW", "url": "https://www.rcsb.org/structure/5LZW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5LZX", "url": "https://www.rcsb.org/structure/5LZX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5LZY", "url": "https://www.rcsb.org/structure/5LZY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5LZZ", "url": "https://www.rcsb.org/structure/5LZZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00009", "url": "http://pfam.xfam.org/family/PF00009", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF03143", "url": "http://pfam.xfam.org/family/PF03143", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF03144", "url": "http://pfam.xfam.org/family/PF03144", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08938", "url": "http://pfam.xfam.org/family/PF08938", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q9Y450", "url": "https://pharos.nih.gov/targets/Q9Y450", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q9Y450", "url": "http://purl.obolibrary.org/obo/PR_Q9Y450", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-429958", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-429958", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001138630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138630", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "19669", "url": "https://www.rhea-db.org/rhea/19669", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "B7Z524", "url": "https://www.uniprot.org/uniprot/B7Z524", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7Z524-1", "url": "https://www.uniprot.org/uniprot/B7Z524-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PHZ9", "url": "https://www.uniprot.org/uniprot/E9PHZ9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PHZ9-1", "url": "https://www.uniprot.org/uniprot/E9PHZ9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PJ90", "url": "https://www.uniprot.org/uniprot/E9PJ90", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PJ90-1", "url": "https://www.uniprot.org/uniprot/E9PJ90-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PLR4", "url": "https://www.uniprot.org/uniprot/E9PLR4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PLR4-1", "url": "https://www.uniprot.org/uniprot/E9PLR4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PMN1", "url": "https://www.uniprot.org/uniprot/E9PMN1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PMN1-1", "url": "https://www.uniprot.org/uniprot/E9PMN1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PN23", "url": "https://www.uniprot.org/uniprot/E9PN23", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PN23-1", "url": "https://www.uniprot.org/uniprot/E9PN23-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PS53", "url": "https://www.uniprot.org/uniprot/E9PS53", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PS53-1", "url": "https://www.uniprot.org/uniprot/E9PS53-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G5E991", "url": "https://www.uniprot.org/uniprot/G5E991", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G5E991-1", "url": "https://www.uniprot.org/uniprot/G5E991-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YD85", "url": "https://www.uniprot.org/uniprot/H0YD85", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YD85-1", "url": "https://www.uniprot.org/uniprot/H0YD85-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YDX7", "url": "https://www.uniprot.org/uniprot/H0YDX7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YDX7-1", "url": "https://www.uniprot.org/uniprot/H0YDX7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YES5", "url": "https://www.uniprot.org/uniprot/H0YES5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YES5-1", "url": "https://www.uniprot.org/uniprot/H0YES5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QT46", "url": "https://www.uniprot.org/uniprot/J3QT46", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QT46-1", "url": "https://www.uniprot.org/uniprot/J3QT46-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9Y450-1", "url": "https://www.uniprot.org/uniprot/Q9Y450-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9Y450-2", "url": "https://www.uniprot.org/uniprot/Q9Y450-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9Y450-4", "url": "https://www.uniprot.org/uniprot/Q9Y450-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MARHRNVRGYNYDEDFEDDDLYGQSVEDDYCISPSTAAQFIYSRRDKPSVEPVEEYDYEDLKESSNSVSNHQLSGFDQARLYSCLDHMREVLGDAVPDEILIEAVLKNKFDVQKALSGVLEQDRVQSLKDKNEATVSTGKIAKGKPVDSQTSRSESEIVPKVAKMTVSGKKQTMGFEVPGVSSEENGHSFHTPQKGPPIEDAIASSDVLETASKSANPPHTIQASEEQSSTPAPVKKSGKLRQQIDVKAELEKRQGGKQLLNLVVIGHVDAGKSTLMGHMLYLLGNINKRTMHKYEQESKKAGKASFAYAWVLDETGEERERGVTMDVGMTKFETTTKVITLMDAPGHKDFIPNMITGAAQADVAVLVVDASRGEFEAGFETGGQTREHGLLVRSLGVTQLAVAVNKMDQVNWQQERFQEITGKLGHFLKQAGFKESDVGFIPTSGLSGENLITRSQSSELTKWYKGLCLLEQIDSFKPPQRSIDKPFRLCVSDVFKDQGSGFCITGKIEAGYIQTGDRLLAMPPNETCTVKGITLHDEPVDWAAAGDHVSLTLVGMDIIKINVGCIFCGPKVPIKACTRFRARILIFNIEIPITKGFPVLLHYQTVSEPAVIKRLISVLNKSTGEVTKKKPKFLTKGQNALVELQTQRPIALELYKDFKELGRFMLRYGGSTIAAGVVTEIKE", "length": 684, "header": "sp|Q9Y450-1|HBS1L_HUMAN Isoform 1 of HBS1-like protein OS=Homo sapiens OX=9606 GN=HBS1L PE=1 SV=1 CANONICAL=Q9Y450-1" }, "isoforms": [ { "isoform_ac": "B7Z524-1", "url": "", "sequence": { "sequence": "MTVSGKKQTMGFEVPGVSSEENGHSFHTPQKGPPIEDAIASSDVLETASKSANPPHTIQASEEQSSTPAPVKKSGKLRQQIDVKAELEKRQGGKQLLNLVVIGHVDAGKSTLMGHMLYLLGNINKRTMHKYEQESKKAGKASFAYAWVLDETGEERERGVTMDVGMTKFETTTKVITLMDAPGHKDFIPNMITGAAQADVAVLVVDASRGEFEAGFETGGQTREHGLLVRSLGVTQLAVAVNKMDQVNWQQERFQEITGKLGHFLKQAGFKESDVGFIPTSGLSGENLITRSQSSELTKWYKGLCLLEQIDSFKPPQRSIDKPFRLCVSDVFKDQGSGFCITGKIEAGYIQTGDRLLAMPPNETCTVKGITLHDEPVDWAAAGDHVSLTLVGMDIIKINVGCIFCGPKVPIKACTRFRARILIFNIEIPITKGFPVLLHYQTVSEPAVIKRLISVLNKSTGEVTKKKPKFLTKGQNALVELQTQRPIALELYKDFKELGRFMLRYGGSTIAAGVVTEIKE", "length": 520, "header": "tr|B7Z524-1|HBS1L_HUMAN Computationally mapped isoform of HBS1-like protein OS=Homo sapiens OX=9606 GN=HBS1L PE=1 SV=1 CANONICAL=Q9Y450-1" }, "locus": { "chromosome": "6", "start_pos": 135002780, "end_pos": 134965282, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527578.5", "url": "https://www.ensembl.org/id/ENST00000527578.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000436256.1", "url": "https://www.ensembl.org/id/ENSP00000436256.1" } ] } }, { "isoform_ac": "E9PHZ9-1", "url": "", "sequence": { "sequence": "MTVSGKKQTMGFEVPGVSSEENGHSFHTPQKGPPIEDAIASSDVLETASKSANPPHTIQASEEQSSTPAPVKKSGKLRQQIDVKAELEKRQGGKQLLNLVVIGHVDAGKSTLMGHMLYLLGNINKRTMHKYEQESKKAGKASFAYAWVLDETGEERERGVTMDVGMTKFETTTKVITLMDAPGHKDFIPNMITGAAQADVAVLVVDASRGEFEAGFETGGQTREHGLLVRSLGVTQLAVAVNK", "length": 243, "header": "tr|E9PHZ9-1|E9PHZ9_HUMAN Computationally mapped isoform of HBS1 like translational GTPase OS=Homo sapiens OX=9606 GN=HBS1L PE=1 SV=1 CANONICAL=Q9Y450-1" }, "locus": { "chromosome": "6", "start_pos": 135002780, "end_pos": 134987654, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529641.5", "url": "https://www.ensembl.org/id/ENST00000529641.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000436620.1", "url": "https://www.ensembl.org/id/ENSP00000436620.1" } ] } }, { "isoform_ac": "E9PJ90-1", "url": "", "sequence": { "sequence": "MARHRNVRGYNYDEARLYSCLDHMREVLGDAVPDEILIEAVLKNKFDVQKALSGVLEQDRVQSLKDKNEATVSTGKIAKGKESYFLLLKFQLIMFKVLILSQQIIWIIVANPLILLAQ", "length": 118, "header": "tr|E9PJ90-1|HBS1L_HUMAN Computationally mapped isoform of HBS1-like protein OS=Homo sapiens OX=9606 GN=HBS1L PE=1 SV=1 CANONICAL=Q9Y450-1" }, "locus": { "chromosome": "6", "start_pos": 135054691, "end_pos": 135037916, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000525067.1", "url": "https://www.ensembl.org/id/ENST00000525067.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000435608.1", "url": "https://www.ensembl.org/id/ENSP00000435608.1" } ] } }, { "isoform_ac": "E9PLR4-1", "url": "", "sequence": { "sequence": "MARHRNVRGYNYDEDFEDDDLYGQSVEDDYCISPSTAAQFIYSRRDKPSVEPVEEYDYEDLKESSNSVSNHQLSGFDQARLYSCLDHMREVLGDAVPDEILIEAVLKNKFDVQKALSGVLEQDRVQSLKDKNEATVSTGKIAKGVLFSSSEVSADNVQSSYPQSANHLDYSSKPFDFASSVGKYGLSHNSSVPTHCLLHRKKKLDTRKSEKKLES", "length": 215, "header": "tr|E9PLR4-1|HBS1L_HUMAN Computationally mapped isoform of HBS1-like protein OS=Homo sapiens OX=9606 GN=HBS1L PE=1 SV=1 CANONICAL=Q9Y450-1" }, "locus": { "chromosome": "6", "start_pos": 135054691, "end_pos": 135037811, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000314674.7", "url": "https://www.ensembl.org/id/ENST00000314674.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000323566.3", "url": "https://www.ensembl.org/id/ENSP00000323566.3" } ] } }, { "isoform_ac": "E9PMN1-1", "url": "", "sequence": { "sequence": "MERPAPWTLWVTTSWWYIWALRSSVTFLPDFEDDDLYGQSVEDDYCISPSTAAQFIYSRRDKPSVEPVEEYDYEDLKESSNSVSNHQLSGFDQARLYSCLDHMREVLGDAVPDEILIEAVLKNKFDVQKALSGVLEQDRVQSLKDKNEATVSTGKIAKGKPVDSQTS", "length": 167, "header": "tr|E9PMN1-1|HBS1L_HUMAN Computationally mapped isoform of HBS1-like protein OS=Homo sapiens OX=9606 GN=HBS1L PE=1 SV=8 CANONICAL=Q9Y450-1" }, "locus": { "chromosome": "6", "start_pos": 135103015, "end_pos": 135002817, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529882.5", "url": "https://www.ensembl.org/id/ENST00000529882.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000433030.1", "url": "https://www.ensembl.org/id/ENSP00000433030.1" } ] } }, { "isoform_ac": "E9PN23-1", "url": "", "sequence": { "sequence": "MARHRNVRGYNYDEAAQFIYSRRDKPSVEPVEEYDYEDLKESSNSVSNHQLSGFDQARLYSCLDHMREVLGDAVPDEILIEAVLKNKFDVQKALSGVLEQDRVQSLKDKNEATVSTGKIAKGKPVDSQTSRSESEIVPKVA", "length": 141, "header": "tr|E9PN23-1|HBS1L_HUMAN Computationally mapped isoform of HBS1-like protein OS=Homo sapiens OX=9606 GN=HBS1L PE=1 SV=1 CANONICAL=Q9Y450-1" }, "locus": { "chromosome": "6", "start_pos": 135054691, "end_pos": 135002784, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000524715.5", "url": "https://www.ensembl.org/id/ENST00000524715.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000434855.1", "url": "https://www.ensembl.org/id/ENSP00000434855.1" } ] } }, { "isoform_ac": "E9PS53-1", "url": "", "sequence": { "sequence": "MTVSGKKQTMGFEVPGVSSEENGHSFHTPQKGPPIEDAIASSDVLETASKSANPPHTIQASEEQSSTPAPVKKSGKLRQQIDVKAELEKRQGGKQLLNLVVIGHVDAGKSTLMGHMLYLLGNINKRTMHKYEQESKKAGKAS", "length": 142, "header": "tr|E9PS53-1|HBS1L_HUMAN Computationally mapped isoform of HBS1-like protein OS=Homo sapiens OX=9606 GN=HBS1L PE=1 SV=1 CANONICAL=Q9Y450-1" }, "locus": { "chromosome": "6", "start_pos": 135002780, "end_pos": 134996824, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527507.1", "url": "https://www.ensembl.org/id/ENST00000527507.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000432092.1", "url": "https://www.ensembl.org/id/ENSP00000432092.1" } ] } }, { "isoform_ac": "G5E991-1", "url": "", "sequence": { "sequence": "MARHRNVRGYNYDEDFEDDDLYGQSVEDDYCISPSTAAQFIYSRRDKPSVEPVEEYDYEDLKESSNSVSNHQLSGFDQARLYSCLDHMREVLGDAVPDEILIEAVLKNKFDVQKALSGVLEQDRVQSLKDKNEATVSTGKIAKGPCC", "length": 147, "header": "tr|G5E991-1|HBS1L_HUMAN Computationally mapped isoform of HBS1-like protein OS=Homo sapiens OX=9606 GN=HBS1L PE=1 SV=1 CANONICAL=Q9Y450-1" }, "locus": { "chromosome": "6", "start_pos": 135054691, "end_pos": 135036784, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000367820.6", "url": "https://www.ensembl.org/id/ENST00000367820.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000356794.2", "url": "https://www.ensembl.org/id/ENSP00000356794.2" } ] } }, { "isoform_ac": "H0YD85-1", "url": "", "sequence": { "sequence": "XEDDDLYGQSVEDDYCISPSTAAQFIYSRRDKPSVEPVEEYDYEDLKESSNSVSNHQLSGFDQAATQLSGHWSC", "length": 74, "header": "tr|H0YD85-1|HBS1L_HUMAN Computationally mapped isoform of HBS1-like protein OS=Homo sapiens OX=9606 GN=HBS1L PE=1 SV=1 CANONICAL=Q9Y450-1" }, "locus": { "chromosome": "6", "start_pos": 135050644, "end_pos": 134996935, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000526100.5", "url": "https://www.ensembl.org/id/ENST00000526100.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000433161.1", "url": "https://www.ensembl.org/id/ENSP00000433161.1" } ] } }, { "isoform_ac": "H0YDX7-1", "url": "", "sequence": { "sequence": "QSVEDDYCISPSTGKPVDSQTSRSESEIVPKVAKMTVSGKKQTMGFEVPGVSSEENGHSFHTPQKGPPIEDAIASSDVLETASKSANPPHTIQASEEQSSTPAPVKKSGKLRQQIDVKAELEKRQGGKQLLNLVVIGHVDAGKSTLMGHMLYLLGNINKRTMHKYEQESKKAGKASFAYAWVLDETGEERERGVTMDVGMTKFETTTKVITLMDAPGHKDFIPNMITGAAQADVAVLVVDASRGEFEAGFETGGQTREHGLLVRSLGVTQLAVAVNKMDQVNWQQERFQEITGKLGHFLKQAGFKESDVGFIPTSGLSGENLITRSQSSELTKWYKGLCLLEQIDSFKPPQRSIDKPFRLCVSDVFKDQGSGFCITGKIEAGYIQTGDRLLAMPPNETCTVKGITLHDEPVDWAAAGDHVSLTLVGMDIIKINVGCIFCGPKVPIKACTRFRARILIFNIEIPITKGFPVLLHYQTVSEPAVIKRLISVLNKSTGEVTKKKPKFLTKGQNALVELQTQRPIALELYKDFKELGRFMLRYGGSTIAAGVVTEIKE", "length": 554, "header": "tr|H0YDX7-1|HBS1L_HUMAN Computationally mapped isoform of HBS1-like protein OS=Homo sapiens OX=9606 GN=HBS1L PE=1 SV=1 CANONICAL=Q9Y450-1" }, "locus": { "chromosome": "6", "start_pos": 135050621, "end_pos": 134965282, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533274.5", "url": "https://www.ensembl.org/id/ENST00000533274.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000434533.1", "url": "https://www.ensembl.org/id/ENSP00000434533.1" } ] } }, { "isoform_ac": "H0YES5-1", "url": "", "sequence": { "sequence": "XAGFETGGQTREHGLLVRSLGVTQLAVAVNKMDQVNWQQERFQEITGKLGHFLKQAGFKESDVGFIPTSGLSGENLITRSQSSELTKWYKGLCLLEQIDSFKPPQRSIDKPFRLCVSDVFKDQGSGFCITGKIEAGYIQTGDRLLAMPPNETCTVKGIYLQDAFAKQALS", "length": 170, "header": "tr|H0YES5-1|HBS1L_HUMAN Computationally mapped isoform of HBS1-like protein OS=Homo sapiens OX=9606 GN=HBS1L PE=1 SV=1 CANONICAL=Q9Y450-1" }, "locus": { "chromosome": "6", "start_pos": 134987745, "end_pos": 134982416, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529169.1", "url": "https://www.ensembl.org/id/ENST00000529169.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000436472.1", "url": "https://www.ensembl.org/id/ENSP00000436472.1" } ] } }, { "isoform_ac": "J3QT46-1", "url": "", "sequence": { "sequence": "MARHRNVRGYNYDEDFEDDDLYGQSVEDDYCISPSTAAQFIYSRRDKPSVEPVEEYDYEDLKESSNSVSNHQLSGFDQGKPVDSQTSRSESEIVPKVAKMTVSGKKQTMGFEVPGVSSEENGHSFHTPQKGPPIEDAIASSDVLETASKSANPPHTIQASEEQSSTPAPVKKSGKLRQQIDVKAELEKRQGGKQLLNLVVIGHVDAGKSTLMGHMLYLLGNINKRTMHKYEQESKKAGKASFAYAWVLDETGEERERGVTMDVGMTKFETTTKVITLMDAPGHKDFIPNMITGAAQADVAVLVVDASRGEFEAGFETGGQTREHGLLVRSLGVTQLAVAVNKMDQVNWQQERFQEITGKLGHFLKQAGFKESDVGFIPTSGLSGENLITRSQSSELTKWYKGLCLLEQIDSFKPPQRSIDKPFRLCVSDVFKDQGSGFCITGKIEAGYIQTGDRLLAMPPNETCTVKGITLHDEPVDWAAAGDHVSLTLVGMDIIKINVGCIFCGPKVPIKACTRFRARILIFNIEIPITKGFPVLLHYQTVSEPAVIKRLISVLNKSTGEVTKKKPKFLTKGQNALVELQTQRPIALELYKDFKELGRFMLRYGGSTIAAGVVTEIKE", "length": 619, "header": "tr|J3QT46-1|HBS1L_HUMAN Computationally mapped isoform of HBS1-like protein OS=Homo sapiens OX=9606 GN=HBS1L PE=1 SV=1 CANONICAL=Q9Y450-1" }, "locus": { "chromosome": "6", "start_pos": 135054691, "end_pos": 134965282, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000415177.6", "url": "https://www.ensembl.org/id/ENST00000415177.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000389826.2", "url": "https://www.ensembl.org/id/ENSP00000389826.2" } ] } }, { "isoform_ac": "Q9Y450-1", "url": "", "sequence": { "sequence": "MARHRNVRGYNYDEDFEDDDLYGQSVEDDYCISPSTAAQFIYSRRDKPSVEPVEEYDYEDLKESSNSVSNHQLSGFDQARLYSCLDHMREVLGDAVPDEILIEAVLKNKFDVQKALSGVLEQDRVQSLKDKNEATVSTGKIAKGKPVDSQTSRSESEIVPKVAKMTVSGKKQTMGFEVPGVSSEENGHSFHTPQKGPPIEDAIASSDVLETASKSANPPHTIQASEEQSSTPAPVKKSGKLRQQIDVKAELEKRQGGKQLLNLVVIGHVDAGKSTLMGHMLYLLGNINKRTMHKYEQESKKAGKASFAYAWVLDETGEERERGVTMDVGMTKFETTTKVITLMDAPGHKDFIPNMITGAAQADVAVLVVDASRGEFEAGFETGGQTREHGLLVRSLGVTQLAVAVNKMDQVNWQQERFQEITGKLGHFLKQAGFKESDVGFIPTSGLSGENLITRSQSSELTKWYKGLCLLEQIDSFKPPQRSIDKPFRLCVSDVFKDQGSGFCITGKIEAGYIQTGDRLLAMPPNETCTVKGITLHDEPVDWAAAGDHVSLTLVGMDIIKINVGCIFCGPKVPIKACTRFRARILIFNIEIPITKGFPVLLHYQTVSEPAVIKRLISVLNKSTGEVTKKKPKFLTKGQNALVELQTQRPIALELYKDFKELGRFMLRYGGSTIAAGVVTEIKE", "length": 684, "header": "sp|Q9Y450-1|HBS1L_HUMAN Isoform 1 of HBS1-like protein OS=Homo sapiens OX=9606 GN=HBS1L PE=1 SV=1 CANONICAL=Q9Y450-1" }, "locus": { "chromosome": "6", "start_pos": 135054691, "end_pos": 134965282, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000367837.10", "url": "https://www.ensembl.org/id/ENST00000367837.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000356811.5", "url": "https://www.ensembl.org/id/ENSP00000356811.5" } ] } }, { "isoform_ac": "Q9Y450-2", "url": "", "sequence": { "sequence": "MARHRNVRGYNYDEDFEDDDLYGQSVEDDYCISPSTAAQFIYSRRDKPSVEPVEEYDYEDLKESSNSVSNHQLSGFDQARLYSCLDHMREVLGDAVPDEILIEAVLKNKFDVQKALSGVLEQDRVQSLKDKNEATVSTGKIAKGVLFSSSEVSADNVQSSYPQSANHLDYSSKPFDFASSVGKYGLSHNSSVPTHCLLHRKKKLDTRKSEKKLESCKLTKELSLANLIHDMSRDSCESQPSVRLSSTDSLESLLSKNLDADLLRPHASECISKDDSAFKEIPDLKTIIIKGTTPNNSLYIQNNSLSDFQNIPVQDSLGSSNNPLYLTSSLENMTVDNLNASKETEVGNVSLVEQSAKNHTFKNDNLQFSQCESPSLTELFQEHKENNISQCFTLSDLCNQSSASFTDLSLGSFPLSQLANRCQSSPGISELTGSLSSLAFHKASPTRDLENLSLSELIAETIDVDNSQIKKESFEVSLSEVRSPGIDSNIDLSVLIKNPDFVPKPVVDPSIAPSSRTKVLSSKLGKNSNFAKDNKKNNKGSLTRKPPFSLSWTKALAARPSAFASTLCLRYPLKSCKRRTLDLYKTFLYSRQVQDVKDKEISPLVAITPFDFKSASPDDIVKANQKKAFTRE", "length": 632, "header": "sp|Q9Y450-2|HBS1L_HUMAN Isoform 2 of HBS1-like protein OS=Homo sapiens OX=9606 GN=HBS1L PE=1 SV=1 CANONICAL=Q9Y450-1" }, "locus": { "chromosome": "6", "start_pos": 135054691, "end_pos": 135036561, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000367822.9", "url": "https://www.ensembl.org/id/ENST00000367822.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000356796.5", "url": "https://www.ensembl.org/id/ENSP00000356796.5" } ] } }, { "isoform_ac": "Q9Y450-4", "url": "", "sequence": { "sequence": "MARHRNVRGYNYDEDFEDDDLYGQSVEDDYCISPSTARLYSCLDHMREVLGDAVPDEILIEAVLKNKFDVQKALSGVLEQDRVQSLKDKNEATVSTGKIAKGKPVDSQTSRSESEIVPKVAKMTVSGKKQTMGFEVPGVSSEENGHSFHTPQKGPPIEDAIASSDVLETASKSANPPHTIQASEEQSSTPAPVKKSGKLRQQIDVKAELEKRQGGKQLLNLVVIGHVDAGKSTLMGHMLYLLGNINKRTMHKYEQESKKAGKASFAYAWVLDETGEERERGVTMDVGMTKFETTTKVITLMDAPGHKDFIPNMITGAAQADVAVLVVDASRGEFEAGFETGGQTREHGLLVRSLGVTQLAVAVNKMDQVNWQQERFQEITGKLGHFLKQAGFKESDVGFIPTSGLSGENLITRSQSSELTKWYKGLCLLEQIDSFKPPQRSIDKPFRLCVSDVFKDQGSGFCITGKIEAGYIQTGDRLLAMPPNETCTVKGITLHDEPVDWAAAGDHVSLTLVGMDIIKINVGCIFCGPKVPIKACTRFRARILIFNIEIPITKGFPVLLHYQTVSEPAVIKRLISVLNKSTGEVTKKKPKFLTKGQNALVELQTQRPIALELYKDFKELGRFMLRYGGSTIAAGVVTEIKE", "length": 642, "header": "sp|Q9Y450-4|HBS1L_HUMAN Isoform 4 of HBS1-like protein OS=Homo sapiens OX=9606 GN=HBS1L PE=1 SV=1 CANONICAL=Q9Y450-1" }, "locus": { "chromosome": "6", "start_pos": 135054691, "end_pos": 134965282, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000367826.6", "url": "https://www.ensembl.org/id/ENST00000367826.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000356800.2", "url": "https://www.ensembl.org/id/ENSP00000356800.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 152, "start_aa": "Ser", "end_pos": 152, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser152", "evidence": [ { "id": "Q9Y450", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y450" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 154, "start_aa": "Ser", "end_pos": 154, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser154", "evidence": [ { "id": "Q9Y450", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y450" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "Q9Y450", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Y450" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 299, "start_aa": "Ser", "end_pos": 299, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser299", "evidence": [ { "id": "Q9Y450", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y450" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "Q9Y450", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Y450" } ] } ], "phosphorylation": [ { "start_pos": 117, "end_pos": 117, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q9Y450", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y450" } ], "site_lbl": "Ser117" }, { "start_pos": 127, "end_pos": 127, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9Y450", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y450" } ], "site_lbl": "Ser127" }, { "start_pos": 152, "end_pos": 152, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" } ], "site_lbl": "Ser152" }, { "start_pos": 154, "end_pos": 154, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9Y450", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y450" } ], "site_lbl": "Ser154" }, { "start_pos": 231, "end_pos": 231, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9Y450", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y450" } ], "site_lbl": "Thr231" }, { "start_pos": 36, "end_pos": 36, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9Y450", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y450" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q9Y450", "url": "http://phospho.elm.eu.org/byAccession/Q9Y450.html" } ], "site_lbl": "Thr36" }, { "start_pos": 49, "end_pos": 49, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9Y450", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y450" } ], "site_lbl": "Ser49" }, { "start_pos": 513, "end_pos": 513, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9Y450", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y450" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr513" }, { "start_pos": 516, "end_pos": 516, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9Y450", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y450" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr516" }, { "start_pos": 528, "end_pos": 528, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9Y450", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y450" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr528" }, { "start_pos": 530, "end_pos": 530, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9Y450", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y450" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr530" }, { "start_pos": 56, "end_pos": 56, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9Y450", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y450" }, { "database": "PubMed", "id": "15592455", "url": 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Cell", "date": "2020", "authors": "Hellen C.U.T., Pestova T.V., Abaeva I.S., Zinoviev A., Ayupov R.K.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" } ], "reference": [ { "type": "PubMed", "id": "32006463", "url": "https://glygen.org/publication/PubMed/32006463" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y450", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y450" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Functional polymorphisms of BCL11A and HBS1L-MYB genes affect both fetal hemoglobin level and clinical outcomes in a cohort of children with sickle cell anemia.", "journal": "Annals of hematology", "date": "2020", "authors": "Sales RR, Belisario AR, Faria G, Mendes F, Luizon MR, Viana MB", "evidence": [ { "database": "RefSeq", "id": "NP_001138630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138630" } ], "reference": [ { "type": "PubMed", "id": "32447424", "url": "https://glygen.org/publication/PubMed/32447424" } ] }, { "title": "Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences.", "journal": "Human genomics", "date": "2021", "authors": "Ganel L, Chen L, Christ R, Vangipurapu J, Young E, Das I, Kanchi K, Larson D, Regier A, Abel H, Kang CJ, Scott A, Havulinna A, Chiang CWK, Service S, Freimer N, Palotie A, Ripatti S, Kuusisto J, Boehnke M, Laakso M, Locke A, Stitziel NO, Hall IM", "evidence": [ { "database": "RefSeq", "id": "NP_001138630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138630" } ], "reference": [ { "type": "PubMed", "id": "34099068", "url": "https://glygen.org/publication/PubMed/34099068" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y450", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y450" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Induction of fetal hemoglobin: Lentiviral shRNA knockdown of HBS1L in \u03b20-thalassemia/HbE erythroid cells.", "journal": "PloS one", "date": "2023", "authors": "Chumchuen Sukanya, Sripichai Orapan, Jearawiriyapaisarn Natee, Fucharoen Suthat, Peerapittayamongkol Chayanon", "evidence": [ { "database": "RefSeq", "id": "NP_001138630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138630" } ], "reference": [ { "type": "PubMed", "id": "36888630", "url": "https://glygen.org/publication/PubMed/36888630" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y450", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y450" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "The product of the mammalian orthologue of the Saccharomyces cerevisiae HBS1 gene is phylogenetically related to eukaryotic release factor 3 (eRF3) but does not carry eRF3-like activity.", "journal": "FEBS Lett.", "date": "1998", "authors": "Gress T.M., Philippe M., Jean-Jean O., Philippe H., Verrier S.-B., Wallrapp C., Zhouravleva G.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" } ], "reference": [ { "type": "PubMed", "id": "9872408", "url": "https://glygen.org/publication/PubMed/9872408" } ] } ], "pathway": [ { "id": "hsa:10767", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10767", "resource": "KEGG Pathway" }, { "id": "R-HSA-429958", "name": "mRNA decay by 3' to 5' exoribonuclease", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-429958", "resource": "Reactome", "description": "mRNA decay by 3' to 5' exoribonuclease" } ], "orthologs": [ { "uniprot_canonical_ac": "Q69ZS7-1", "protein_name": "HBS1-like protein", "gene_name": "Hbs1l", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MARHRNVRGYNYDEDFEDDDLYGQSVEDDYCISPSTAAQFIYSRRDNPEEEYGYEDLRESSNSLLNHQLSEIDQARLYSCLDHMREVLGDAVPDDILTEAILKHKFDVQKALSVVLEQDGVQPWKEKSERAVCAGQPSKGKSVISRSSQSESEIVPKVAKMTVSGKKQTMGFEVPGLTSEENGLSVRAPHKGPPGDDVSVASPNIPETGTPKSALPPPSLQTSEELGSTPTPVRKSGKLRQQIDVKAELEKRQGGKQLLNLVVIGHVDAGKSTLMGHMLYLLGNVNKRTMHKYEQESKKAGKASFAYAWVLDETGEERERGVTMDVGMTKFETTTKVITLMDAPGHKDFIPNMITGAAQADVAVLVVDASRGEFEAGFETGGQTREHGLLVRSLGVTQLAVAVNKMDQVNWQQERFQEITGKLGHFLKQAGFKESDVAFIPTSGLSGENLTARSQSSDLTTWYKGMCLLEQIDSFKPPQRSIDKPFRLCVSDVFKDQGSGFCVTGKIEAGYIQTGDRLLAMPPNETCTAKGITLHDEPVDWAAAGDHVNLTLVGMDIIKINVGCIFCGPKEPIKACTRFRARILVFNIEVPITKGFPVLLHYQTVSEPAVIKRLISVLNKSTGEVTKKKPKLLTKGQNALVELQTQRPVALELYKDFKELGRFMLRYGGSTVAAGVVTEIKE", "length": 682 }, "evidence": [ { "id": "45237198", "url": "http://www.informatics.jax.org/homology/45237198", "database": "MGI" }, { "id": "Q9Y450", "url": "https://omabrowser.org/oma/group/Q9Y450/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q6AXM7-1", "protein_name": "HBS1-like protein", "gene_name": "Hbs1l", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MARHRNVRGYNYDEDFEDDDLYGQSVEDDYCISPSTAAQFIYSRRDNPEEEYGYEDLKESSNSLLNHQLSEIDQARLYSCLDHMREVLGDAVPDDILTEAILKHKFDVQKALSVVLEQDGVQTLKEKSERAVCAGQPSKVISRSSQSESEIVPKVAKMTVSGKKQTMGFEVPGLPSEENGHNVRAPYKGPPGDDVSIASPNVPETGTPKSTAHPPSLQTSEELGCTPTPLRKSGKLRQQIDVKAGLEKRQGGKQLLNLVVIGHVDAGKSTLMGHMLYLLGNVNKRTMHKYEQESKKAGKASFAYAWVLDETGEERERGVTMDVGMTKFETTTKVVTLMDAPGHKDFIPNMITGAAQADVAVLVVDASRGEFEAGFETGGQTREHGLLVRSLGVTQLAVAVNKMDQVNWQQERFQEITGKLGHFLKQAGFKESDVAFIPTSGLSGENLTSRSQSSDLTKWYKGLCLLEQIDSFKPPQRSIDKPFRLCVSDVFKDQGSGFCVTGKIEAGYVQTGDRLLAMPPNETCTAKGITLHDEPVDWAAAGDHVSLTLVGMDIIKINVGCIFCGPKEPIKACTRFRARILIFNIEVPITKGFPVLLHYQTVSEPAVIKRLISVLNKSTGEVTKKKPKLLTKGQNALVELQTQRPVALELYKDFKELGRFMLRYGGSTVAAGVVTEIKE", "length": 679 }, "evidence": [ { "id": "45237198", "url": "http://www.informatics.jax.org/homology/45237198", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9W074-1", "protein_name": "Protein HBS1", "gene_name": "HBS1", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MSRHRIVRTMDYNDEYDGYDDIYGHSVEDEHCISPTDAQQWLYDRARGQQSISAFISKNKDIQEEEADEDEDEDAAFAKARRDSESFQMPQLDEIEQAKLSSCVDEVRSVVGDAVSERRIVETSMKFDYDMQKILDEILNEETNKSAKPAVNKMKAPAAPVLPKTVSKTVPTPPPKISLKEPRRGFEIPSPKVPSSPVVSGRNTPVDISAGDDISRSSATVFKVSKEQAVRNARQLYEKERADQKSHIHMIVIGHVDAGKSTLMGHLLYDTGNVSQRVMHKHEQESKKLGKQSFMYAWVLDETGEERARGITMDVGQSRIETKTKIVTLLDAPGHKDFIPNMISGATQADVALLVVDATRGEFESGFELGGQTREHAILVRSLGVNQLGVVINKLDTVGWSQDRFTEIVTKLKSFLKLAGFKDSDVSFTPCSGLTGENLTKKAQEPALTNWYSGRHLLDVIENFKIPERAIDRPLRMSVSDIYKGTGSGFCISGRVETGVLCLNDKVLVGASREQAQVKSLTMNEFPQTCVFAGDQVSVTLPALDINNVTVGCIISDPQTPIPVTTRFQARIIVFNVKVPITMGFPVLLHHQSLIEPAVVCKLTASIHKSTGEVVKKKPRCLGNNSCALVELETSRPICIERYADFKELGRVMLRVAGVTIAAGMVTKIR", "length": 670 }, "evidence": [ { "id": "Q9Y450", "url": "https://omabrowser.org/oma/group/Q9Y450/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" } ], "pmid": "" }, { "name": "translation elongation factor activity", "id": "GO:0003746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003746", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" } ], "pmid": "" }, { "name": "rescue of stalled ribosome", "id": "GO:0072344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072344", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" } ], "pmid": "" }, { "name": "ribosome disassembly", "id": "GO:0032790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032790", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process, no-go decay", "id": "GO:0070966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070966", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "cellular anatomical entity", "id": "GO:0110165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110165", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" } ], "pmid": "" }, { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" } ], "pmid": "" }, { "name": "Dom34-Hbs1 complex", "id": "GO:1990533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990533", "evidence": [ { "database": "UniProtKB", "id": "Q9Y450", "url": "https://www.uniprot.org/uniprot/Q9Y450" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 526, "end_pos": 528, "annotation": "n_glycosylation_sequon" }, { "start_pos": 621, "end_pos": 623, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "19669", "name": "", "equation": "GTP + H2O = GDP + H(+) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q08877-1", "Q6AYC2-1", "Q2TA68-1", "P61589-1", "Q6RUV5-1", "P23640-1", "P21575-1", "P39052-1", "O35303-1", "Q6AYF9-1", "Q8CFN2-1", "Q63663-1", "M0RC99-1", "Q99P74-1", "B2GUV7-1", "Q8R4Z9-1", "Q8R500-1", "D3ZQL7-1", "P97538-1", "Q6IMA3-1", "Q5BJQ5-1", "Q62636-1", "Q63486-1", "Q63487-1", "P61227-1", "P62836-1", "P63322-1", "Q04970-1", "P08644-1", "D3Z8L7-1", "P35281-1", "P36860-1", "Q6IMA7-1", "C9WPN6-1", "P20171-1", "P81795-1", "Q6AYZ1-1", "Q6AY56-1", "Q99MB4-1", "Q5XIF6-1", "P84079-1", "P68370-1", "Q68FR8-1", "Q6P9V9-1", "P51146-1", "O35509-1", "P62494-1", "Q6NYB7-1", "Q66HA6-1", "P09527-1", "P10536-1", "P05714-1", "Q8K586-1", "P62828-1", "P62332-1", "P05712-1", "P35280-1", "Q6AXM7-1", "Q6AYB5-1", "P05197-1", "P62630-1", "P60953-2", "Q9UQ16-1", "Q05193-1", "P50570-1", "P55039-1", "Q9Y295-1", "O00429-1", "Q6NXR0-1", "Q96PP8-1", "P32455-1", "Q9H0R5-1", "Q96PP9-1", "P32456-1", "Q8N442-1", "O60841-1", "Q5S007-1", "Q8IWA4-1", "O95140-1", "O60313-1", "Q8IVH4-1", "O00194-1", "P51159-1", "P63000-1", "P20339-1", "P61586-1", "O94811-1", "P61018-1", "Q9H0U4-1", "P51148-1", "P51149-1", "Q9Y227-1", "P62820-1", "Q9NQZ7-1", "P20338-1", "P62491-1", "Q15907-1", "Q92928-1", "P61020-1", "Q9NVJ2-1", "A6NIZ1-1", "P61224-1", "A1A4Y4-1", "P61011-1", "P62834-1", "Q5VZM2-1", "Q2VIR3-1", "P41091-1", "P01112-1", "P61225-1", "Q9Y3L5-1", "Q96S79-1", "Q9NQL2-1", "Q9HB90-1", "Q9H628-1", "O14807-1", "P01116-1", "P60763-1", "P11233-1", "P01111-1", "Q99578-1", "Q96A58-1", "Q92737-1", "Q9BPW5-1", "Q7Z444-1", "P10114-1", "P11234-1", "P10301-1", "P62070-1", "Q6T310-1", "P61026-1", "Q92963-1", "Q7L523-1", "Q9NYN1-1", "P62826-1", "Q8N8V2-1", "P62330-1", "Q9NRW1-1", "Q6ZN66-1", "Q8WUD1-1", "P61006-1", "P61019-1", "Q9BSD7-1", "Q9NY65-1", "Q9H853-1", "P68366-1", "Q4V339-1", "Q8IUF1-1", "Q71U36-1", "Q9BQE3-1", "P68363-1", "Q5RIA9-1", "Q9BRT8-1", "A6NHL2-1", "Q5JTY5-1", "P84077-1", "P0DPH7-1", "P0DPH8-1", "Q6PEY2-1", "P13639-1", "P15170-1", "Q8IYD1-1", "P68104-1", "P61221-1", "Q9Y450-1", "P61021-1", "Q62293-1", "Q61107-1", "P60766-2", "P39053-1", "P39054-1", "Q8BZ98-1", "Q8CFB4-1", "P32233-1", "Q9Z0E6-1", "Q9QXB9-1", "Q01514-1", "Q8K1M6-1", "Q8C262-1", "Q5S006-1", "Q8C3X4-1", "Q9QZ85-1", "Q05D44-1", "P58281-1", "Q8C7H1-1", "Q80U63-1", "Q811U4-1", "Q99P58-1", "Q9QUI0-1", "Q9ERI2-1", "P63001-1", "Q3T9E4-1", "Q7TQD2-1", "Q9CQD1-1", "Q3TCT4-1", "Q9CQW2-1", "P56371-1", "P62821-1", "P62492-1", "Q91ZR1-1", "P35278-1", "P46638-1", "P51150-1", "Q9D1G1-1", "Q7TT45-1", "P61226-1", "P61027-1", "P62071-1", "Q99JI6-1", "Q8R367-1", "Q922H7-1", "Q8BU31-1", "Q80ZJ1-1", "Q80X95-1", "O08989-1", "P70426-1", "Q8K5A4-1", "P10833-1", "P70425-1", "Q61411-1", "Q5SSG5-1", "Q6NTA4-1", "Q99K70-1", "Q9JIW9-1", "Q08AT1-1", "P60764-1", "P62835-1", "P63321-1", "Q6IMB1-1", "P32883-1", "Q9Z0N2-1", "Q9Z0N1-1", "P08556-1", "Q7TN89-1", "A4UUI3-1", "Q8VEH6-1", "A0A0G2JDV3-1", "P68368-1", "Q91Z40-1", "Q60766-1", "A0A140LIF8-1", "Q9DCE9-1", "Q3UX10-1", "Q9JJZ2-1", "Q0GUM3-1", "E9PXC0-1", "P62331-1", "Q9CQA9-1", "P53994-1", "P59279-1", "P62827-1", "P55258-1", "P61294-1", "Q61820-1", "P05214-1", "P84078-1", "P68369-1", "P10126-1", "Q69ZS7-1", "P05213-1", "P68373-1", "P61222-1", "P58252-1", "Q149F3-1", "Q8R050-1", "P14576-1", "P13856-1", "P20606-1", "P01119-1", "P01120-1", "P05453-1", "P06780-1", "P06781-1", "P09733-1", "P09734-1", "P11076-1", "P19073-1", "P32324-1", "P32481-1", "P32769-1", "P53893-1", "P54861-1", "Q00246-1", "P39730-1", "P46943-1", "P38297-1", "P53729-1", "P20424-1", "P53290-1", "Q00582-1", "Q54XP6-1", "Q54XD8-1", "Q55CA9-1", "Q55CB0-1", "Q55CB7-1", "Q55CB8-1", "Q55CB9-1", "Q55CC0-1", "Q75K18-1", "Q869Q0-1", "Q86L51-1", "B0G189-1", "O00909-1", "P03967-1", "P0CT31-1", "P15064-1", "P15112-1", "P18613-1", "P32252-1", "P32253-1", "P32254-1", "P32255-1", "P36409-1", "P36411-1", "Q54MH8-1", "Q55AX0-1", "Q55BW0-1", "Q55F94-1", "P08645-1", "P08646-1", "P40793-1", "Q24208-1", "P04388-1", "P27619-1", "Q7YU24-1", "P48555-1", "Q9VRH6-1", "A1Z9N0-1", "O18412-1", "Q7KY04-1", "O96692-1", "P06604-1", "P06606-1", "P61209-1", "P06603-1", "P06605-1", "O76901-1", "Q9W074-1", "O18333-1", "P13060-1" ], "evidence": [ { "id": "19669", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/19669" } ] }, { "id": "R-HSA-430028", "name": "Exosome Complex hydrolyzes mRNA by 3' to 5' exoribonuclease digestion", "equation": "", "summary": "The exosome complex hydrolyzes capped, deadenylated mRNA from 3' to 5' and yields ribonucleotides having 5'-monophosphates. In yeast the Ski2-Ski3-Ski8 complex assists degradation by the exosome complex, however little is known about the function of the homologous Ski complex in mammals. Although many exosomal components contain exonuclease signatures, only two components have been shown to degrade RNA. Rrp6/PMSCL-100 has been shown to be involved in the 3\u2019-5\u2019 decay of nuclear mRNAs in yeast. Rrp6 may also function in the absence of the core exosomal components. The Rrp44/dDis3 component of the core exosome has been shown to possess both 3\u2019-5\u2019 exonuclease activity along with endonuclease activity via its PIN domain.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q15477-1", "Q9Y2L1-1", "Q9Y450-1" ], "evidence": [ { "id": "R-HSA-430028", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-430028" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A0A0G2JDV3", "gene_name": "Gbp6", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "A0A0G2JDV3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0G2JDV3" } ] } ] }, { "uniprot_ac": "A0A140LIF8", "gene_name": "Irgm2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "A0A140LIF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A140LIF8" } ] } ] }, { "uniprot_ac": "A1A4Y4", "gene_name": "IRGM", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "A1A4Y4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A1A4Y4" } ] } ] }, { "uniprot_ac": "A1Z9N0", "gene_name": "Opa1", "activity": [ { "ec_number": "3.6.5.5", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "A1Z9N0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A1Z9N0" } ] }, { "ec_number": "3.6.5.5", "activity": "", "evidence": [ { "id": "A1Z9N0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A1Z9N0" } ] } ] }, { "uniprot_ac": "A4UUI3", "gene_name": "Gbp4", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "A4UUI3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A4UUI3" } ] } ] }, { "uniprot_ac": "A6NHL2", "gene_name": "TUBAL3", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "A6NHL2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6NHL2" } ] } ] }, { "uniprot_ac": "A6NIZ1", "gene_name": "RAP1BL", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "A6NIZ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6NIZ1" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "A6NIZ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6NIZ1" } ] } ] }, { "uniprot_ac": "B0G189", "gene_name": "guf1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "B0G189", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B0G189" } ] } ] }, { "uniprot_ac": "B2GUV7", "gene_name": "Eif5b", "activity": [ { "ec_number": "3.6.5.3", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "B2GUV7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2GUV7" } ] }, { "ec_number": "3.6.5.3", "activity": "", "evidence": [ { "id": "B2GUV7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2GUV7" } ] } ] }, { "uniprot_ac": "C9WPN6", "gene_name": "Eif2s3y", "activity": [ { "ec_number": "3.6.5.3", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "C9WPN6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/C9WPN6" } ] }, { "ec_number": "3.6.5.3", "activity": "", "evidence": [ { "id": "C9WPN6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/C9WPN6" } ] } ] }, { "uniprot_ac": "D3Z8L7", "gene_name": "Rras", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "D3Z8L7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3Z8L7" } ] } ] }, { "uniprot_ac": "D3ZQL7", "gene_name": "Tppp", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "D3ZQL7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZQL7" } ] } ] }, { "uniprot_ac": "E9PXC0", "gene_name": "Srp54c", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "E9PXC0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/E9PXC0" } ] } ] }, { "uniprot_ac": "M0RC99", "gene_name": "Rab5a", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "M0RC99", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/M0RC99" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "M0RC99", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/M0RC99" } ] } ] }, { "uniprot_ac": "O00194", "gene_name": "RAB27B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "O00194", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00194" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "O00194", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00194" } ] } ] }, { "uniprot_ac": "O00429", "gene_name": "DNM1L", "activity": [ { "ec_number": "3.6.5.5", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "O00429", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00429" } ] }, { "ec_number": "3.6.5.5", "activity": "", "evidence": [ { "id": "O00429", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00429" } ] } ] }, { "uniprot_ac": "O00909", "gene_name": "arfA", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "O00909", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00909" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "O00909", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00909" } ] } ] }, { "uniprot_ac": "O08989", "gene_name": "Mras", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "O08989", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O08989" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "O08989", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O08989" } ] } ] }, { "uniprot_ac": "O14807", "gene_name": "MRAS", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "O14807", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14807" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "O14807", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14807" } ] } ] }, { "uniprot_ac": "O18333", "gene_name": "Rab2", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "O18333", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O18333" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "O18333", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O18333" } ] } ] }, { "uniprot_ac": "O18412", "gene_name": "fzo", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "O18412", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O18412" } ] } ] }, { "uniprot_ac": "O35303", "gene_name": "Dnm1l", "activity": [ { "ec_number": "3.6.5.5", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "O35303", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35303" } ] }, { "ec_number": "3.6.5.5", "activity": "", "evidence": [ { "id": "O35303", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35303" } ] } ] }, { "uniprot_ac": "O35509", "gene_name": "Rab11b", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "O35509", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35509" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "O35509", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35509" } ] } ] }, { "uniprot_ac": "O60313", "gene_name": "OPA1", "activity": [ { "ec_number": "3.6.5.5", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "O60313", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60313" } ] }, { "ec_number": "3.6.5.5", "activity": "", "evidence": [ { "id": "O60313", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60313" } ] } ] }, { "uniprot_ac": "O60841", "gene_name": "EIF5B", "activity": [ { "ec_number": "3.6.5.3", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "O60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60841" } ] }, { "ec_number": "3.6.5.3", "activity": "", "evidence": [ { "id": "O60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60841" } ] } ] }, { "uniprot_ac": "O76901", "gene_name": "Rab27", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "O76901", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O76901" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "O76901", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O76901" } ] } ] }, { "uniprot_ac": "O94811", "gene_name": "TPPP", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "O94811", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94811" } ] } ] }, { "uniprot_ac": "O95140", "gene_name": "MFN2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "O95140", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95140" } ] } ] }, { "uniprot_ac": "O96692", "gene_name": "Rap2l", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "O96692", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96692" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "O96692", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96692" } ] } ] }, { "uniprot_ac": "P01111", "gene_name": "NRAS", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P01111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01111" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P01111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01111" } ] } ] }, { "uniprot_ac": "P01112", "gene_name": "HRAS", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P01112", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01112" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P01112", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01112" } ] } ] }, { "uniprot_ac": "P01116", "gene_name": "KRAS", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P01116", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01116" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P01116", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01116" } ] } ] }, { "uniprot_ac": "P01119", "gene_name": "RAS1", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P01119", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01119" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P01119", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01119" } ] } ] }, { "uniprot_ac": "P01120", "gene_name": "RAS2", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P01120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01120" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P01120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01120" } ] } ] }, { "uniprot_ac": "P03967", "gene_name": "rasD", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P03967", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03967" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P03967", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03967" } ] } ] }, { "uniprot_ac": "P04388", "gene_name": "Ras64B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P04388", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04388" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P04388", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04388" } ] } ] }, { "uniprot_ac": "P05197", "gene_name": "Eef2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P05197", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05197" } ] } ] }, { "uniprot_ac": "P05213", "gene_name": "Tuba1b", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P05213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05213" } ] } ] }, { "uniprot_ac": "P05214", "gene_name": "Tuba3a", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P05214", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05214" } ] } ] }, { "uniprot_ac": "P05453", "gene_name": "SUP35", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P05453", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05453" } ] } ] }, { "uniprot_ac": "P05712", "gene_name": "Rab2a", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P05712", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05712" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P05712", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05712" } ] } ] }, { "uniprot_ac": "P05714", "gene_name": "Rab4a", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P05714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05714" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P05714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05714" } ] } ] }, { "uniprot_ac": "P06603", "gene_name": "alphaTub84B", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P06603", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06603" } ] } ] }, { "uniprot_ac": "P06604", "gene_name": "alphaTub85E", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P06604", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06604" } ] } ] }, { "uniprot_ac": "P06605", "gene_name": "alphaTub84D", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P06605", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06605" } ] } ] }, { "uniprot_ac": "P06606", "gene_name": "alphaTub67C", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P06606", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06606" } ] } ] }, { "uniprot_ac": "P06780", "gene_name": "RHO1", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P06780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06780" } ] }, { "ec_number": 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"id": "P61589", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61589" } ] } ] }, { "uniprot_ac": "P62070", "gene_name": "RRAS2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P62070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62070" } ] } ] }, { "uniprot_ac": "P62071", "gene_name": "Rras2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P62071", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62071" } ] } ] }, { "uniprot_ac": "P62330", "gene_name": "ARF6", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62330" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62330" } ] } ] }, { "uniprot_ac": "P62331", "gene_name": "Arf6", 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"P62821", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62821" } ] } ] }, { "uniprot_ac": "P62826", "gene_name": "RAN", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P62826", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62826" } ] } ] }, { "uniprot_ac": "P62827", "gene_name": "Ran", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P62827", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62827" } ] } ] }, { "uniprot_ac": "P62828", "gene_name": "Ran", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P62828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62828" } ] } ] }, { "uniprot_ac": "P62834", "gene_name": "RAP1A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62834", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62834" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62834", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62834" } ] } ] }, { "uniprot_ac": "P62835", "gene_name": "Rap1a", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62835", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62835" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62835", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62835" } ] } ] }, { "uniprot_ac": "P62836", "gene_name": "Rap1a", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62836", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62836" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62836", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62836" } ] } ] }, { "uniprot_ac": "P63000", "gene_name": "RAC1", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P63000", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P63000" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P63000", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P63000" } ] } ] }, { "uniprot_ac": "P63001", "gene_name": "Rac1", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P63001", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P63001" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P63001", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P63001" } ] } ] }, { "uniprot_ac": "P63321", "gene_name": "Rala", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P63321", "database": "UniProtKB", "url": 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"url": "https://www.uniprot.org/uniprot/P68363" } ] } ] }, { "uniprot_ac": "P68366", "gene_name": "TUBA4A", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P68366", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68366" } ] } ] }, { "uniprot_ac": "P68368", "gene_name": "Tuba4a", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P68368", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68368" } ] } ] }, { "uniprot_ac": "P68369", "gene_name": "Tuba1a", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P68369", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68369" } ] } ] }, { "uniprot_ac": "P68370", "gene_name": "Tuba1a", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P68370", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68370" } ] } ] }, { "uniprot_ac": "P68373", "gene_name": "Tuba1c", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P68373", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68373" } ] } ] }, { "uniprot_ac": "P70425", "gene_name": "Rit2", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P70425", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P70425" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P70425", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P70425" } ] } ] }, { "uniprot_ac": "P70426", "gene_name": "Rit1", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P70426", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P70426" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P70426", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P70426" } ] } ] }, { 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