{ "uniprot_canonical_ac": "O94855-1", "uniprot_ac": "O94855", "uniprot_id": "SC24D_HUMAN", "mass": { "chemical_mass": 113010.0, "monoisotopic_mass": 113010.0 }, "refseq": { "ac": "NP_001304995", "name": "protein transport protein Sec24D isoform 2", "summary": "The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304995" }, "gene_names": [ { "name": "SEC24D", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94855", "id": "O94855" }, { "name": "CLCRP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304995", "id": "NP_001304995" }, { "name": "KIAA0755", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94855", "id": "O94855" }, { "name": "SEC24D", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304995", "id": "NP_001304995" } ], "protein_names": [ { "name": "Protein transport protein Sec24D", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94855" }, { "name": "SEC24-related protein D", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94855" }, { "name": "protein transport protein Sec24D isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304995", "id": "NP_001304995" }, { "name": "protein transport protein Sec24D; SEC24-related protein D; SEC24 related gene family, member D", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304995", "id": "NP_001304995" } ], "function": [ { "annotation": "Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex (PubMed:17499046, PubMed:20427317, PubMed:18843296). Plays a central role in cargo selection within the COPII complex and together with SEC24C may have a different specificity compared to SEC24A and SEC24B (PubMed:17499046, PubMed:20427317, PubMed:18843296). May more specifically package GPI-anchored proteins through the cargo receptor TMED10 (PubMed:20427317). May also be specific for IxM motif-containing cargos like the SNAREs GOSR2 and STX5 (PubMed:18843296).", "evidence": [ { "database": "UniProtKB", "id": "O94855", "url": "https://www.uniprot.org/uniprot/O94855#function" }, { "database": "PubMed", "id": "20427317", "url": "https://glygen.org/publication/PubMed/20427317" }, { "database": "PubMed", "id": "18843296", "url": "https://glygen.org/publication/PubMed/18843296" }, { "database": "PubMed", "id": "17499046", "url": "https://glygen.org/publication/PubMed/17499046" } ] }, { "annotation": "Concentrative endoplasmic reticulum-export is contingent on a direct interaction of GAT1 with Sec24D.", "evidence": [ { "database": "RefSeq", "id": "NP_001304995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304995" }, { "database": "PubMed", "id": "17210573", "url": "https://glygen.org/publication/PubMed/17210573" } ] }, { "annotation": "ERp29 as a regulator of Insulin biosynthesis. Erratum:[PLoS One. 2020 Aug 21;15(8):e0238264. PMID: 32822440] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001304995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304995" }, { "database": "PubMed", "id": "32433667", "url": "https://glygen.org/publication/PubMed/32433667" } ] }, { "annotation": "Identification and characterization of SEC24D as a susceptibility gene for hepatitis B virus infection. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001304995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304995" }, { "database": "PubMed", "id": "31530870", "url": "https://glygen.org/publication/PubMed/31530870" } ] }, { "annotation": "Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes.", "evidence": [ { "database": "RefSeq", "id": "NP_001304995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304995" }, { "database": "PubMed", "id": "37676273", "url": "https://glygen.org/publication/PubMed/37676273" } ] }, { "annotation": "The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001304995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304995" } ] }, { "annotation": "Three mutant SEC24D alleles in a rare autosomal-recessively inherited skeletal disorder characterized by pre- and postnatal bone fragility, skull ossification defects, craniofacial dysmorphism, and short stature", "evidence": [ { "database": "RefSeq", "id": "NP_001304995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304995" }, { "database": "PubMed", "id": "25683121", "url": "https://glygen.org/publication/PubMed/25683121" } ] } ], "disease": [ { "disease_id": "DOID:0060438", "recommended_name": { "id": "DOID:0060438", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060438", "name": "Cole-Carpenter syndrome", "description": "An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance." }, "synonyms": [ { "id": "MONDO:0014573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014573", "name": "Cole-Carpenter syndrome 2", "description": "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene." }, { "id": "MONDO:0014573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014573", "name": "Cole-Carpenter syndrome 2", "description": "" }, { "id": "MONDO:0014573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014573", "name": "Cole-Carpenter syndrome caused by mutation in SEC24D", "description": "" }, { "id": "MONDO:0014573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014573", "name": "Cole-Carpenter syndrome type 2", "description": "" }, { "id": "MONDO:0014573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014573", "name": "SEC24D Cole-Carpenter syndrome", "description": "" }, { "id": "MONDO:0014573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014573", "name": "CLCRP2", "description": "" }, { "id": "MONDO:0014573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014573", "name": "COLE-CARPENTER syndrome 2", "description": "" }, { "id": "MONDO:0007204", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007204", "name": "Cole-Carpenter syndrome 1", "description": "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene." }, { "id": "MONDO:0007204", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007204", "name": "Cole-Carpenter syndrome 1", "description": "" }, { "id": "MONDO:0007204", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007204", "name": "Cole-Carpenter syndrome caused by mutation in P4HB", "description": "" }, { "id": "MONDO:0007204", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007204", "name": "Cole-Carpenter syndrome type 1", "description": "" }, { "id": "MONDO:0007204", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007204", "name": "P4HB Cole-Carpenter syndrome", "description": "" }, { "id": "MONDO:0007204", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007204", "name": "CLCRP1", "description": "" }, { "id": "MONDO:0007204", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007204", "name": "COLE-CARPENTER syndrome 1", "description": "" }, { "id": "MONDO:0007204", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007204", "name": "bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features", "description": "" }, { "id": "MIM:616294", "resource": "MIM", "url": "https://www.omim.org/entry/616294", "name": "Cole-Carpenter syndrome 2", "description": "Cole-Carpenter syndrome 2" }, { "id": "MIM:112240", "resource": "MIM", "url": "https://www.omim.org/entry/112240", "name": "Cole-Carpenter syndrome 1", "description": "Cole-Carpenter syndrome 1" } ], "evidence": [ { "id": "616294", "database": "MIM", "url": "https://www.omim.org/entry/616294" } ] } ], "snv": [ { "evidence": [ { "id": "rs1385815567", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1385815567" }, { "id": "rs1385815567", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1385815567#frequency_tab" }, { "id": "rs1385815567", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1385815567" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 181, "end_pos": 181, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGP->NGS).", "chr_id": "4", "chr_pos": "118815583", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P181", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781619219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781619219" }, { "id": "rs781619219", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781619219" }, { "id": "rs781619219", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781619219#frequency_tab" }, { "id": "rs781619219", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781619219" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 356, "end_pos": 356, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NHG->NHS).", "chr_id": "4", "chr_pos": "118768287", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G356", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1227833259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1227833259" }, { "id": "rs1227833259", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1227833259#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 35, "end_pos": 35, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "4", "chr_pos": "118833593", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T35", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1174033526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1174033526" }, { "id": "rs1174033526", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1174033526" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 35, "end_pos": 35, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "4", "chr_pos": "118833594", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T35", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1427309471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1427309471" }, { "id": "rs1427309471", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1427309471" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 418, "end_pos": 418, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "4", "chr_pos": "118764846", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S418", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1192312538", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1192312538" }, { "id": "rs1192312538", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1192312538" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 421, "end_pos": 421, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "4", "chr_pos": "118764836", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S421", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O94855", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94855" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 421, "end_pos": 421, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->Y).", "chr_id": "4", "chr_pos": "118764836", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S421", "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 cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs777710743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777710743" }, { "id": "rs777710743", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777710743" }, { "id": "rs777710743", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777710743" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 427, "end_pos": 427, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "4", "chr_pos": "118764818", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T427", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O94855", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94855" } ], "glycoeffect": [], "start_pos": 59, "end_pos": 59, 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"http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O94855", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94855" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94855" } ], "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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"https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": 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Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O94855", "url": "https://www.uniprot.org/uniprot/O94855" } ], "common_name": "Human" } ], "gene": [ { "name": "SEC24D", "url": "https://www.uniprot.org/uniprot/O94855", "locus": { "chromosome": "4", "start_pos": 118722823, "end_pos": 118838683, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000150961", "url": "https://www.ensembl.org/id/ENSG00000150961" } ] } } ], "crossref": [ { "id": "ENSG00000150961", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150961", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O94855", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94855", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd01479", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd01479", "database": "CDD", 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Classification" ] }, { "id": "R-HSA-9705671", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9705671", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001304995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304995", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "D6RAE2", "url": "https://www.uniprot.org/uniprot/D6RAE2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RAE2-1", "url": "https://www.uniprot.org/uniprot/D6RAE2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RBM1", "url": "https://www.uniprot.org/uniprot/D6RBM1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RBM1-1", "url": "https://www.uniprot.org/uniprot/D6RBM1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RGJ5", "url": "https://www.uniprot.org/uniprot/D6RGJ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RGJ5-1", "url": "https://www.uniprot.org/uniprot/D6RGJ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PC44", "url": "https://www.uniprot.org/uniprot/E9PC44", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PC44-1", "url": "https://www.uniprot.org/uniprot/E9PC44-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PDM8", "url": "https://www.uniprot.org/uniprot/E9PDM8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PDM8-1", "url": "https://www.uniprot.org/uniprot/E9PDM8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PG84", "url": "https://www.uniprot.org/uniprot/E9PG84", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PG84-1", "url": "https://www.uniprot.org/uniprot/E9PG84-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94855", "url": "https://www.uniprot.org/uniprot/O94855", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94855-1", "url": "https://www.uniprot.org/uniprot/O94855-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94855-2", "url": "https://www.uniprot.org/uniprot/O94855-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSQQGYVATPPYSQPQPGIGLSPPHYGHYGDPSHTASPTGMMKPAGPLGATATRGMLPPGPPPPGPHQFGQNGAHATGHPPQRFPGPPPVNNVASSHAPYQPSAQSSYPGPISTSSVTQLGSQLSAMQINSYGSGMAPPSQGPPGPLSATSLQTPPRPPQPSILQPGSQVLPPPPTTLNGPGASPLPLPMYRPDGLSGPPPPNAQYQPPPLPGQTLGAGYPPQQANSGPQMAGAQLSYPGGFPGGPAQMAGPPQPQKKLDPDSIPSPIQVIENDRASRGGQVYATNTRGQIPPLVTTDCMIQDQGNASPRFIRCTTYCFPCTSDMAKQAQIPLAAVIKPFATIPSNESPLYLVNHGESGPVRCNRCKAYMCPFMQFIEGGRRYQCGFCNCVNDVPPFYFQHLDHIGRRLDHYEKPELSLGSYEYVATLDYCRKSKPPNPPAFIFMIDVSYSNIKNGLVKLICEELKTMLEKIPKEEQEETSAIRVGFITYNKVLHFFNVKSNLAQPQMMVVTDVGEVFVPLLDGFLVNYQESQSVIHNLLDQIPDMFADSNENETVFAPVIQAGMEALKAADCPGKLFIFHSSLPTAEAPGKLKNRDDKKLVNTDKEKILFQPQTNVYDSLAKDCVAHGCSVTLFLFPSQYVDVASLGLVPQLTGGTLYKYNNFQMHLDRQQFLNDLRNDIEKKIGFDAIMRVRTSTGFRATDFFGGILMNNTTDVEMAAIDCDKAVTVEFKHDDKLSEDSGALIQCAVLYTTISGQRRLRIHNLGLNCSSQLADLYKSCETDALINFFAKSAFKAVLHQPLKVIREILVNQTAHMLACYRKNCASPSAASQLILPDSMKVLPVYMNCLLKNCVLLSRPEISTDERAYQRQLVMTMGVADSQLFFYPQLLPIHTLDVKSTMLPAAVRCSESRLSEEGIFLLANGLHMFLWLGVSSPPELIQGIFNVPSFAHINTDMTLLPEVGNPYSQQLRMIMGIIQQKRPYSMKLTIVKQREQPEMVFRQFLVEDKGLYGGSSYVDFLCCVHKEICQLLN", "length": 1032, "header": "sp|O94855-1|SC24D_HUMAN Isoform 1 of Protein transport protein Sec24D OS=Homo sapiens OX=9606 GN=SEC24D PE=1 SV=2 CANONICAL=O94855-1" }, "isoforms": [ { "isoform_ac": "D6RAE2-1", "url": "", "sequence": { "sequence": "MSQQGYVATPPYSQPQPGIGLSPPHYGHYGDPSHTASPTGRKLRSLKISFLPRFIQLISNQWGLELL", "length": 67, "header": "tr|D6RAE2-1|SC24D_HUMAN Computationally mapped isoform of Protein transport protein Sec24D OS=Homo sapiens OX=9606 GN=SEC24D PE=1 SV=1 CANONICAL=O94855-1" }, "locus": { "chromosome": "4", "start_pos": 118833696, "end_pos": 118825536, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000514561.5", "url": "https://www.ensembl.org/id/ENST00000514561.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000422717.1", "url": "https://www.ensembl.org/id/ENSP00000422717.1" } ] } }, { "isoform_ac": "D6RBM1-1", "url": "", "sequence": { "sequence": "MSQQGYVATPPYSQPQPGIGLSPPHYGHYGDPSHTASPTGMMKPAGPLGATATRGMLPPGPPPPGPHQFGQNGAHATGHPPQRFRHGSSKPGTPWPSVSHIIADSSTTSTAFHFAAWISSSSTTTHHTQWSWCLTFASTNVQTRWALWASSSKCPVPAPTSSRPDLGCWISSAAGQLWSPDGRRTTVLPRRLPWRSCTDGWSATAPEEAGS", "length": 211, "header": "tr|D6RBM1-1|SC24D_HUMAN Computationally mapped isoform of Protein transport protein Sec24D OS=Homo sapiens OX=9606 GN=SEC24D PE=1 SV=1 CANONICAL=O94855-1" }, "locus": { "chromosome": "4", "start_pos": 118833696, "end_pos": 118815047, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000509818.5", "url": "https://www.ensembl.org/id/ENST00000509818.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000424085.1", "url": "https://www.ensembl.org/id/ENSP00000424085.1" } ] } }, { "isoform_ac": "D6RGJ5-1", "url": "", "sequence": { "sequence": "MSQQGYVATPPYSQPQPGIGLSPPHYGHYGDPSHTASPTGMMKPAGPLGATATRGMLPPGPPPPGPHQFGQNGAHATGHPPQRFPGPPPVNNVASSHAPYQPSAQSSYPGPISTSSVTQLGSQLSAMQINSYGSGMAPPSQGPPGPLSATSLQTPPRPPQPSILQ", "length": 165, "header": "tr|D6RGJ5-1|SC24D_HUMAN Computationally mapped isoform of Protein transport protein Sec24D OS=Homo sapiens OX=9606 GN=SEC24D PE=1 SV=8 CANONICAL=O94855-1" }, "locus": { "chromosome": "4", "start_pos": 118833696, "end_pos": 118815629, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000503683.1", "url": "https://www.ensembl.org/id/ENST00000503683.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000426309.1", "url": "https://www.ensembl.org/id/ENSP00000426309.1" } ] } }, { "isoform_ac": "E9PC44-1", "url": "", "sequence": { "sequence": "MIDVSYSNIKNGLVKLICEELKTMLEKIPKEEQEETSAIRVGFITYNKVLHFFNVKSNLAQPQMMVVTDVGEVFVPLLDGFLVNYQESQSVIHNLLDQIPDMFADSNENETVFAPVIQAGMEALKAADCPGKLFIFHSSLPTAEAPGKLKNRDDKKLVNTDKEKILFQPQTNVYDSLAKDCVAHGCSVTLFLFPSQYVDVASLGLVPQLTGGTLYKYNNFQMHLDRQQFLNDLRNDIEKKIGFDAIMRVRTSTGFRATDFFGGILMNNTTDVEMAAIDCDKAVTVEFKHDDKLSEDSGALIQCAVLYTTISGQRRLRIHNLGLNCSSQLADLYKSCETDALINFFAKSAFKAVLHQPLKVIREILVNQTAHMLACYRKNCASPSAASQFTCEK", "length": 393, "header": "tr|E9PC44-1|SC24D_HUMAN Computationally mapped isoform of Protein transport protein Sec24D OS=Homo sapiens OX=9606 GN=SEC24D PE=1 SV=2 CANONICAL=O94855-1" }, "locus": { "chromosome": "4", "start_pos": 118757809, "end_pos": 118736555, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000419654.6", "url": "https://www.ensembl.org/id/ENST00000419654.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000388324.2", "url": "https://www.ensembl.org/id/ENSP00000388324.2" } ] } }, { "isoform_ac": "E9PDM8-1", "url": "", "sequence": { "sequence": "MCPFMQFIEGGRRYQCGFCNCVNDVPPFYFQHLDHIGRRLDHYEKPELSLGSYEYVATLDYCRKSKPPNPPAFIFMIDVSYSNIKNGLVKLICEELKTMLEKIPKEEQEETSAIRVGFITYNKVLHFFNVKSNLAQPQMMVVTDVGEVFVPLLDGFLVNYQESQSVIHNLLDQIPDMFADSNENETVFAPVIQAGMEALKAADCPGKLFIFHSSLPTAEAPGKLKNRDDKKLVNTDKEKILFQPQTNVYDSLAKDCVAHGCSVTLFLFPSQYVDVASLGLVPQLTGGTLYKYNNFQMHLDRQQFLNDLRNDIEKKIGFDAIMRVRTSTGFRATDFFGGILMNNTTDVEMAAIDCDKAVTVEFKHDDKLSEDSGALIQCAVLYTTISGQRRLRIHNLGLNCSSQLADLYKSCETDALINFFAKSAFKAVLHQPLKVIREILVNQTAHMLACYRKNCASPSAASQLILPDSMKVLPVYMNCLLKNCVLLSRPEISTDERAYQRQLVMTMGVADSQLFFYPQLLPIHTLDVKSTMLPAAVRCSESRLSEEGIFLLANGLHMFLWLGVSSPPELIQGIFNVPSFAHINTDMTLLPEVGNPYSQQLRMIMGIIQQKRPYSMKLTIVKQREQPEMVFRQFLVEDKGLYGGSSYVDFLCCVHKEICQLLN", "length": 663, "header": "tr|E9PDM8-1|SC24D_HUMAN Computationally mapped isoform of Protein transport protein Sec24D OS=Homo sapiens OX=9606 GN=SEC24D PE=1 SV=1 CANONICAL=O94855-1" }, "locus": { "chromosome": "4", "start_pos": 118768245, "end_pos": 118723518, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000511481.5", "url": "https://www.ensembl.org/id/ENST00000511481.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000425491.1", "url": "https://www.ensembl.org/id/ENSP00000425491.1" } ] } }, { "isoform_ac": "E9PG84-1", "url": "", "sequence": { "sequence": "MSQQGYVATPPYSQPQPGIGLSPPHYGHYGDPSHTASPTGMMKPAGPLGATATRGMLPPGPPPPGPHQFGQNGAHATGHPPQRFPGPPPVNNVASSHAPYQPSAQSSYPGPISTSSVTQLGSQLSAMQINSYDHGKSGSSDVVRQKREDRRGKSHSTEIYINRNAVYPVQAWLLQARDPLALCQPHHCRLLHDLHSLPFCSLDLKFFHHHPPHSMVLVPHLCLYQCTDQMGSLGLLLQMPSTSPHLFQARPWVLDILRSRPTLVPRWQAHNCLTQEASLEVLHRWLVRHSPRRSWILTLSLAQSR", "length": 305, "header": "tr|E9PG84-1|SC24D_HUMAN Computationally mapped isoform of Protein transport protein Sec24D OS=Homo sapiens OX=9606 GN=SEC24D PE=1 SV=1 CANONICAL=O94855-1" }, "locus": { "chromosome": "4", "start_pos": 118833696, "end_pos": 118805948, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000506622.5", "url": "https://www.ensembl.org/id/ENST00000506622.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000427249.1", "url": "https://www.ensembl.org/id/ENSP00000427249.1" } ] } }, { "isoform_ac": "O94855-1", "url": "", "sequence": { "sequence": "MSQQGYVATPPYSQPQPGIGLSPPHYGHYGDPSHTASPTGMMKPAGPLGATATRGMLPPGPPPPGPHQFGQNGAHATGHPPQRFPGPPPVNNVASSHAPYQPSAQSSYPGPISTSSVTQLGSQLSAMQINSYGSGMAPPSQGPPGPLSATSLQTPPRPPQPSILQPGSQVLPPPPTTLNGPGASPLPLPMYRPDGLSGPPPPNAQYQPPPLPGQTLGAGYPPQQANSGPQMAGAQLSYPGGFPGGPAQMAGPPQPQKKLDPDSIPSPIQVIENDRASRGGQVYATNTRGQIPPLVTTDCMIQDQGNASPRFIRCTTYCFPCTSDMAKQAQIPLAAVIKPFATIPSNESPLYLVNHGESGPVRCNRCKAYMCPFMQFIEGGRRYQCGFCNCVNDVPPFYFQHLDHIGRRLDHYEKPELSLGSYEYVATLDYCRKSKPPNPPAFIFMIDVSYSNIKNGLVKLICEELKTMLEKIPKEEQEETSAIRVGFITYNKVLHFFNVKSNLAQPQMMVVTDVGEVFVPLLDGFLVNYQESQSVIHNLLDQIPDMFADSNENETVFAPVIQAGMEALKAADCPGKLFIFHSSLPTAEAPGKLKNRDDKKLVNTDKEKILFQPQTNVYDSLAKDCVAHGCSVTLFLFPSQYVDVASLGLVPQLTGGTLYKYNNFQMHLDRQQFLNDLRNDIEKKIGFDAIMRVRTSTGFRATDFFGGILMNNTTDVEMAAIDCDKAVTVEFKHDDKLSEDSGALIQCAVLYTTISGQRRLRIHNLGLNCSSQLADLYKSCETDALINFFAKSAFKAVLHQPLKVIREILVNQTAHMLACYRKNCASPSAASQLILPDSMKVLPVYMNCLLKNCVLLSRPEISTDERAYQRQLVMTMGVADSQLFFYPQLLPIHTLDVKSTMLPAAVRCSESRLSEEGIFLLANGLHMFLWLGVSSPPELIQGIFNVPSFAHINTDMTLLPEVGNPYSQQLRMIMGIIQQKRPYSMKLTIVKQREQPEMVFRQFLVEDKGLYGGSSYVDFLCCVHKEICQLLN", "length": 1032, "header": "sp|O94855-1|SC24D_HUMAN Isoform 1 of Protein transport protein Sec24D OS=Homo sapiens OX=9606 GN=SEC24D PE=1 SV=2 CANONICAL=O94855-1" }, "locus": { "chromosome": "4", "start_pos": 118833696, "end_pos": 118723518, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000280551.11", "url": "https://www.ensembl.org/id/ENST00000280551.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000280551.6", "url": "https://www.ensembl.org/id/ENSP00000280551.6" } ] } }, { "isoform_ac": "O94855-2", "url": "", "sequence": { "sequence": "MSQQGYVATPPYSQPQPGIGLSPPHYGHYGDPSHTASPTGMMKPAGPLGATATRGMLPPGPPPPGPHQFGQNGAHATGHPPQRFPGPPPVNNVASSHAPYQPSAQSSYPGPISTSSVTQLGSQLSAMQINSYGSGMAPPSQGPPGPLSATSLQTPPRPPQPSILQPGSQVLPPPPTTLNGPGASPLPLPMYRPDGLSGPPPPNAQYQPPPLPGQTLGAGYPPQQAANSGPQMAGAQLSYPGGFPGGPAQMAGPPQPQKKLDPDSIPSPIQVIENDRASRGGQVYATNTRGQIPPLVTTDCMIQDQGNASPRFIRCTTYCFPCTSDMAKQAQIPLAAVIKPFATIPSNESPLYLVNHGESGPVRCNRCKAYMCPFMQFIEGGRRYQCGFCNCVNDVPPFYFQHLDHIGRRLDHYEKPELSLGSYEYVATLDYCRKSKPPNPPAFIFMIDVSYSNIKNGLVKLICEELKTMLEKIPKEEQEETSAIRVGFITYNKVLHFFNVKSNLAQPQMMVVTDVGEVFVPLLDGFLVNYQESQSVIHNLLDQIPDMFADSNENETVFAPVIQAGMEALKAADCPGKLFIFHSSLPTAEAPGKLKNRDDKKLVNTDKEKILFQPQTNVYDSLAKDCVAHGCSVTLFLFPSQYVDVASLGLVPQLTGGTLYKYNNFQMHLDRQQFLNDLRNDIEKKIGFDAIMRVRTSTGFRATDFFGGILMNNTTDVEMAAIDCDKAVTVEFKHDDKLSEDSGALIQCAVLYTTISGQRRLRIHNLGLNCSSQLADLYKSCETDALINFFAKSAFKAVLHQPLKVIREILVNQTAHMLACYRKNCASPSAASQLILPDSMKVLPVYMNCLLKNCVLLSRPEISTDERAYQRQLVMTMGVADSQLFFYPQLLPIHTLDVKSTMLPAAVRCSESRLSEEGIFLLANGLHMFLWLGVSSPPELIQGIFNVPSFAHINTDMTLLPEVGNPYSQQLRMIMGIIQQKRPYSMKLTIVKQREQPEMVFRQFLVEDKGLYGGSSYVDFLCCVHKEICQLLN", "length": 1033, "header": "sp|O94855-2|SC24D_HUMAN Isoform 2 of Protein transport protein Sec24D OS=Homo sapiens OX=9606 GN=SEC24D PE=1 SV=2 CANONICAL=O94855-1" }, "locus": {} } ], "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": 13, "start_aa": "Ser", "end_pos": 13, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser13", "evidence": [ { "id": "O94855", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94855" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "34142147", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34142147" }, { "id": "O94855", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O94855" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 35, "start_aa": "Thr", "end_pos": 35, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr35", "evidence": [ { "id": "O94855", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94855" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "34142147", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34142147" }, { "id": "O94855", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O94855" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 418, "start_aa": "Ser", "end_pos": 418, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser418", "evidence": [ { "id": "O94855", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94855" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "34142147", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34142147" }, { "id": "O94855", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O94855" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 421, "start_aa": "Ser", "end_pos": 421, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser421", "evidence": [ { "id": "O94855", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94855" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "34142147", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34142147" }, { "id": "O94855", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O94855" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 427, "start_aa": "Thr", "end_pos": 427, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr427", "evidence": [ { "id": "O94855", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94855" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "34142147", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34142147" }, { "id": "O94855", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O94855" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 9, "start_aa": "Thr", "end_pos": 9, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr9", "evidence": [ { "id": "O94855", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94855" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "34142147", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34142147" }, { "id": "O94855", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O94855" } ] } ], "phosphorylation": [ { "start_pos": 266, "end_pos": 266, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94855", "url": "https://www.uniprot.org/uniprot/O94855" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O94855", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94855" } ], "site_lbl": "Ser266" }, { "start_pos": 37, "end_pos": 37, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94855", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94855" }, { "database": "PubMed", "id": "27869121", "url": "" } ], "site_lbl": "Ser37" }, { "start_pos": 831, "end_pos": 831, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94855", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94855" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser831" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Opposing motor activities of dynein and kinesin determine retention and transport of MHC class II-containing compartments.", "journal": "Journal of cell science", "date": "1999", "authors": "Wubbolts R, Fernandez-Borja M, Jordens I, Reits E, Dusseljee S, Echeverri C, Vallee RB, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10036229", "url": "https://glygen.org/publication/PubMed/10036229" } ] }, { "title": "Cell surface expression of HLA-E: interaction with human beta2-microglobulin and allelic differences.", "journal": "European journal of immunology", "date": "1999", "authors": "Ulbrecht M, Couturier A, Martinozzi S, Pla M, Srivastava R, Peterson PA, Weiss EH", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "10064069", "url": "https://glygen.org/publication/PubMed/10064069" } ] }, { "title": "Identification of destabilizing residues in HLA class II-selected bacteriophage display libraries edited by HLA-DM.", "journal": "European journal of immunology", "date": "1999", "authors": "Raddrizzani L, Bono E, Vogt AB, Kropshofer H, Gallazzi F, Sturniolo T, Hammerling GJ, Sinigaglia F, Hammer J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10064083", "url": "https://glygen.org/publication/PubMed/10064083" } ] }, { "title": "Cathepsin S required for normal MHC class II peptide loading and germinal center development.", "journal": "Immunity", "date": "1999", "authors": "Shi GP, Villadangos JA, Dranoff G, Small C, Gu L, Haley KJ, Riese R, Ploegh HL, Chapman HA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10072072", "url": "https://glygen.org/publication/PubMed/10072072" } ] }, { "title": "A family of mammalian proteins homologous to yeast Sec24p.", "journal": "Biochem. Biophys. Res. 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