{ "uniprot_canonical_ac": "Q9H082-1", "uniprot_ac": "Q9H082", "uniprot_id": "RB33B_HUMAN", "mass": { "chemical_mass": 25718.0, "monoisotopic_mass": 25718.0 }, "refseq": { "ac": "XP_011530601", "name": "ras-related protein Rab-33B isoform X1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_011530601" }, "gene_names": [ { "name": "RAB33B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9H082", "id": "Q9H082" }, { "name": "RAB33B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_011530601", "id": "XP_011530601" }, { "name": "SMC2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_011530601", "id": "XP_011530601" } ], "protein_names": [ { "name": "Ras-related protein Rab-33B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9H082" }, { "name": "ras-related protein Rab-33B isoform X1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_011530601", "id": "XP_011530601" }, { "name": "ras-related protein Rab-33B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112586", "id": "NP_112586" } ], "function": [ { "annotation": "A second autosomal recessive locus for Dyggve-Melchior-Clausen syndrome exists on 4q31.1 and that Rab protein-encoding gene, RAB33B, is the likely disease gene in that locus.", "evidence": [ { "database": "RefSeq", "id": "NP_112586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112586" }, { "database": "PubMed", "id": "22652534", "url": "https://glygen.org/publication/PubMed/22652534" } ] }, { "annotation": "Protein transport. Acts, in coordination with RAB6A, to regulate intra-Golgi retrograde trafficking. It is involved in autophagy, acting as a modulator of autophagosome formation.", "evidence": [ { "database": "UniProtKB", "id": "Q9H082", "url": "https://www.uniprot.org/uniprot/Q9H082#function" }, { "database": "PubMed", "id": "20163571", "url": "https://glygen.org/publication/PubMed/20163571" } ] }, { "annotation": "RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_112586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112586" }, { "database": "PubMed", "id": "34284742", "url": "https://glygen.org/publication/PubMed/34284742" } ] }, { "annotation": "RAB33B recruits the ATG16L1 complex to the phagophore via a noncanonical RAB binding protein.", "evidence": [ { "database": "RefSeq", "id": "NP_112586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112586" }, { "database": "PubMed", "id": "32960676", "url": "https://glygen.org/publication/PubMed/32960676" } ] }, { "annotation": "Rab33 modulates autophagosome formation through interaction with Atg16L", "evidence": [ { "database": "RefSeq", "id": "NP_112586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112586" }, { "database": "PubMed", "id": "18448665", "url": "https://glygen.org/publication/PubMed/18448665" } ] }, { "annotation": "Seven patients with Smith-McCort dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings.", "evidence": [ { "database": "RefSeq", "id": "NP_112586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112586" }, { "database": "PubMed", "id": "34000439", "url": "https://glygen.org/publication/PubMed/34000439" } ] }, { "annotation": "This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [provided by RefSeq, Sep 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_112586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112586" } ] } ], "disease": [ { "disease_id": "DOID:0081271", "recommended_name": { "id": "DOID:0081271", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081271", "name": "Smith-McCort dysplasia 2", "description": "A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31." }, "synonyms": [ { "id": "MONDO:0014087", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014087", "name": "Smith-McCort dysplasia 2", "description": "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene." }, { "id": "MONDO:0014087", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014087", "name": "RAB33B Smith-McCort dysplasia", "description": "" }, { "id": "MONDO:0014087", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014087", "name": "Smith-McCort dysplasia 2", "description": "" }, { "id": "MONDO:0014087", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014087", "name": "Smith-McCort dysplasia caused by mutation in RAB33B", "description": "" }, { "id": "MONDO:0014087", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014087", "name": "Smith-McCort dysplasia type 2", "description": "" }, { "id": "MONDO:0014087", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014087", "name": "SMITH-McCort dysplasia 2", "description": "" }, { "id": "MONDO:0014087", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014087", "name": "Smc2", "description": "" }, { "id": "MIM:615222", "resource": "MIM", "url": "https://www.omim.org/entry/615222", "name": "Smith-McCort dysplasia 2", "description": "Smith-McCort dysplasia 2" } ], "evidence": [ { "id": "615222", "database": "MIM", "url": "https://www.omim.org/entry/615222" } ] } ], "snv": [ { "evidence": [ { "id": "Q9H082", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9H082" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 115, "end_pos": 115, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DMT->NMT).", "chr_id": "4", "chr_pos": "139472779", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D115", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs775417496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775417496" }, { "id": "rs775417496", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs775417496" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 120, "end_pos": 120, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NMA->NMS).", "chr_id": "4", "chr_pos": "139472794", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A120", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754430101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754430101" }, { "id": "rs754430101", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754430101" }, { "id": "rs754430101", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754430101" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 185, "end_pos": 185, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDN->NDS).", "chr_id": "4", "chr_pos": "139472990", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N185", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 92, "end_pos": 92, "sequence_org": "Q", "sequence_mut": "A", "comment": "No loss of SGSM2-stimulated GTPase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9H082", "url": "https://www.uniprot.org/uniprot/Q9H082" }, { "database": "PubMed", "id": "21808068", "url": "https://glygen.org/publication/PubMed/21808068" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "72.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172007", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172007" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "78.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000172007", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172007" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "75.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000172007", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172007" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "74.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172007", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172007" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "79.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000172007", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172007" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "76.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000172007", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172007" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "75.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000172007", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172007" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "75.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000172007", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172007" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "73.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172007", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172007" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "75.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172007", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172007" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000172007", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172007" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "72.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172007", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172007" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "76.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000172007", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172007" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9H082", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H082" } ], "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": 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"" }, { "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": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9H082", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H082" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H082" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "Q9H082", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H082" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H082", "url": "https://www.uniprot.org/uniprot/Q9H082" } ], "common_name": "Human" } ], "gene": [ { "name": "RAB33B", "url": "https://www.uniprot.org/uniprot/Q9H082", "locus": { "chromosome": "4", "start_pos": 139476609, "end_pos": 139453232, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000172007", "url": "https://www.ensembl.org/id/ENSG00000172007" } ] } } ], "crossref": [ { "id": "ENSG00000172007", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172007", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q9H082", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9H082", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd04115", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04115", "database": "CDD", 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"https://www.uniprot.org/uniprot/Q9H082", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H082-1", "url": "https://www.uniprot.org/uniprot/Q9H082-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAEEMESSLEASFSSSGAVSGASGFLPPARSRIFKIIVIGDSNVGKTCLTYRFCAGRFPDRTEATIGVDFRERAVEIDGERIKIQLWDTAGQERFRKSMVQHYYRNVHAVVFVYDMTNMASFHSLPSWIEECKQHLLANDIPRILVGNKCDLRSAIQVPTDLAQKFADTHSMPLFETSAKNPNDNDHVEAIFMTLAHKLKSHKPLMLSQPPDNGIILKPEPKPAMTCWC", "length": 229, "header": "sp|Q9H082-1|RB33B_HUMAN Isoform 1 of Ras-related protein Rab-33B OS=Homo sapiens OX=9606 GN=RAB33B PE=1 SV=1 CANONICAL=Q9H082-1" }, "isoforms": [ { "isoform_ac": "A0A494C0Z5-1", "url": "", "sequence": { "sequence": "MPHPQRQAEETCLLSGATKRYVDAGTDPTPEPSAPSLPLLSSLGRVGGMAEEMESSLEASFSSSGAVSGASGFLPPARSRIFKIIVIGDSNVGKTCLTYRFCAGRFPDRTEATIGVDFRERAVEIDGERIKIQLWDTAGQERFRKSMVQHYYRNVHAVVFVYDMTNMASFHSLPSWIEECKQHLLANDIPRILVGNKCDLRSAIQVPTDLAQKFADTHSMPLFETSAKNPNDNDHVEAIFMTLAHKLKSHKPLMLSQPPDNGIILKPEPKPAMTCWC", "length": 277, "header": "tr|A0A494C0Z5-1|RB33B_HUMAN Computationally mapped isoform of Ras-related protein Rab-33B OS=Homo sapiens OX=9606 GN=RAB33B PE=1 SV=1 CANONICAL=Q9H082-1" }, "locus": { "chromosome": "4", "start_pos": 139473123, "end_pos": 139453573, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000652268.1", "url": "https://www.ensembl.org/id/ENST00000652268.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498778.1", "url": "https://www.ensembl.org/id/ENSP00000498778.1" } ] } }, { "isoform_ac": "Q9H082-1", "url": "", "sequence": { "sequence": "MAEEMESSLEASFSSSGAVSGASGFLPPARSRIFKIIVIGDSNVGKTCLTYRFCAGRFPDRTEATIGVDFRERAVEIDGERIKIQLWDTAGQERFRKSMVQHYYRNVHAVVFVYDMTNMASFHSLPSWIEECKQHLLANDIPRILVGNKCDLRSAIQVPTDLAQKFADTHSMPLFETSAKNPNDNDHVEAIFMTLAHKLKSHKPLMLSQPPDNGIILKPEPKPAMTCWC", "length": 229, "header": "sp|Q9H082-1|RB33B_HUMAN Isoform 1 of Ras-related protein Rab-33B OS=Homo sapiens OX=9606 GN=RAB33B PE=1 SV=1 CANONICAL=Q9H082-1" }, "locus": { "chromosome": "4", "start_pos": 139473123, "end_pos": 139454196, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000305626.6", "url": "https://www.ensembl.org/id/ENST00000305626.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000306496.5", "url": "https://www.ensembl.org/id/ENSP00000306496.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 47, "start_aa": "Thr", "end_pos": 47, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr47", "evidence": [ { "id": "Q9H082", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H082" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "Q9H082", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9H082" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "GMAP-210, A cis-Golgi network-associated protein, is a minus end microtubule-binding protein.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Infante C, Ramos-Morales F, Fedriani C, Bornens M, Rios RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811438", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811438" } ], "reference": [ { "type": "PubMed", "id": "10189370", "url": "https://glygen.org/publication/PubMed/10189370" } ] }, { "title": "Characterization of GAPCenA, a GTPase activating protein for Rab6, part of which associates with the centrosome.", "journal": "The EMBO journal", "date": "1999", "authors": "Cuif MH, Possmayer F, Zander H, Bordes N, Jollivet F, Couedel-Courteille A, Janoueix-Lerosey I, Langsley G, Bornens M, Goud B", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854214", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854214" } ], "reference": [ { "type": "PubMed", "id": "10202141", "url": "https://glygen.org/publication/PubMed/10202141" } ] }, { "title": "Similarities in function and gene structure of cytohesin-4 and cytohesin-1, guanine nucleotide-exchange proteins for ADP-ribosylation factors.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Ogasawara M, Kim SC, Adamik R, Togawa A, Ferrans VJ, Takeda K, Kirby M, Moss J, Vaughan M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811438", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811438" } ], "reference": [ { "type": "PubMed", "id": "10652308", "url": "https://glygen.org/publication/PubMed/10652308" } ] }, { "title": "Turning on ARF: the Sec7 family of guanine-nucleotide-exchange factors.", "journal": "Trends in cell biology", "date": "2000", "authors": "Jackson CL, Casanova JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811438", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811438" } ], "reference": [ { "type": "PubMed", "id": "10652516", "url": "https://glygen.org/publication/PubMed/10652516" } ] }, { "title": "Allosteric regulation of substrate binding and product release in geranylgeranyltransferase type II.", "journal": "Biochemistry", "date": "2001", "authors": "Thoma NH, Iakovenko A, Kalinin A, Waldmann H, Goody RS, Alexandrov K", "evidence": [ { "database": "Reactome", "id": "R-HSA-8873719", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8873719" } ], "reference": [ { "type": "PubMed", "id": "11141079", "url": "https://glygen.org/publication/PubMed/11141079" } ] }, { "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "journal": "Genome Res.", "date": "2001", "authors": "Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A", "evidence": [ { "database": "UniProtKB", "id": "Q9H082", "url": "https://www.uniprot.org/uniprot/Q9H082" } ], "reference": [ { "type": "PubMed", "id": "11230166", "url": "https://glygen.org/publication/PubMed/11230166" } ] }, { "title": "Membrane targeting of a Rab GTPase that fails to associate with Rab escort protein (REP) or guanine nucleotide dissociation inhibitor (GDI).", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Overmeyer JH, Wilson AL, Maltese WA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8873719", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8873719" } ], "reference": [ { "type": "PubMed", "id": "11389151", "url": "https://glygen.org/publication/PubMed/11389151" } ] }, { "title": "Interaction of farnesylated PRL-2, a protein-tyrosine phosphatase, with the beta-subunit of geranylgeranyltransferase II.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Si X, Zeng Q, Ng CH, Hong W, Pallen CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8873719", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8873719" } ], "reference": [ { "type": "PubMed", "id": "11447212", "url": "https://glygen.org/publication/PubMed/11447212" } ] }, { "title": "Phosphoisoprenoids modulate association of Rab geranylgeranyltransferase with REP-1.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Thoma NH, Iakovenko A, Goody RS, Alexandrov K", "evidence": [ { "database": "Reactome", "id": "R-HSA-8873719", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8873719" } ], "reference": [ { "type": "PubMed", "id": "11675392", "url": "https://glygen.org/publication/PubMed/11675392" } ] }, { "title": "Identification of rabaptin-5, rabex-5, and GM130 as putative effectors of rab33b, a regulator of retrograde traffic between the Golgi apparatus and ER.", "journal": "FEBS letters", "date": "2001", "authors": "Valsdottir R, Hashimoto H, Ashman K, Koda T, Storrie B, Nilsson T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811438", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811438" } ], "reference": [ { "type": "PubMed", "id": "11718716", "url": "https://glygen.org/publication/PubMed/11718716" } ] }, { "title": "Sorting of Golgi resident proteins into different subpopulations of COPI vesicles: a role for ArfGAP1.", "journal": "The Journal of cell biology", "date": "2001", "authors": "Lanoix J, Ouwendijk J, Stark A, Szafer E, Cassel D, Dejgaard K, Weiss M, Nilsson T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811438", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811438" } ], "reference": [ { "type": "PubMed", "id": "11748249", "url": "https://glygen.org/publication/PubMed/11748249" } ] }, { "title": "The Sec34/Sec35p complex, a Ypt1p effector required for retrograde intra-Golgi trafficking, interacts with Golgi SNAREs and COPI vesicle coat proteins.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Suvorova ES, Duden R, Lupashin VV", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811438", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811438" } ], "reference": [ { "type": "PubMed", "id": "12011112", "url": "https://glygen.org/publication/PubMed/12011112" } ] }, { "title": "The overexpression of GMAP-210 blocks anterograde and retrograde transport between the ER and the Golgi apparatus.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2002", "authors": "Pernet-Gallay K, Antony C, Johannes L, Bornens M, Goud B, Rios RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811438", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811438" } ], "reference": [ { "type": "PubMed", "id": "12383348", "url": "https://glygen.org/publication/PubMed/12383348" } ] }, { "title": "CASP, the alternatively spliced product of the gene encoding the CCAAT-displacement protein transcription factor, is a Golgi membrane protein related to giantin.", "journal": "Molecular biology of the cell", "date": "2002", "authors": "Gillingham AK, Pfeifer AC, Munro S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811438", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811438" } ], "reference": [ { "type": "PubMed", "id": "12429822", "url": "https://glygen.org/publication/PubMed/12429822" } ] }, { "title": "The GTPase Arf1p and the ER to Golgi cargo 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