{ "uniprot_canonical_ac": "Q8IV36-1", "uniprot_ac": "Q8IV36", "uniprot_id": "HID1_HUMAN", "mass": { "chemical_mass": 88745.0, "monoisotopic_mass": 88745.0 }, "refseq": { "ac": "NP_085133", "name": "protein HID1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085133" }, "gene_names": [ { "name": "HID1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8IV36", "id": "Q8IV36" }, { "name": "17orf28; C17orf28; DEE105; DMC1; HID-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085133", "id": "NP_085133" }, { "name": "C17orf28", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8IV36", "id": "Q8IV36" }, { "name": "DMC1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8IV36", "id": "Q8IV36" }, { "name": "HID1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085133", "id": "NP_085133" } ], "protein_names": [ { "name": "Protein HID1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8IV36" }, { "name": "Down-regulated in multiple cancers 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IV36" }, { "name": "HID1 domain-containing protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IV36" }, { "name": "Protein hid-1 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IV36" }, { "name": "downregulated in multiple cancer 1; down-regulated in multiple cancers 1; UPF0663 transmembrane protein C17orf28; protein hid-1 homolog; HID1 domain-containing protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085133", "id": "NP_085133" }, { "name": "protein HID1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085133", "id": "NP_085133" } ], "function": [ { "annotation": "Authors propose that HID-1 influences early steps in LDCV formation by controlling dense core formation at the TGN.", "evidence": [ { "database": "RefSeq", "id": "NP_085133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085133" }, { "database": "PubMed", "id": "29074564", "url": "https://glygen.org/publication/PubMed/29074564" } ] }, { "annotation": "Mammalian HID-1 localized to the medial- and trans- Golgi apparatus as well as the cytosol.", "evidence": [ { "database": "RefSeq", "id": "NP_085133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085133" }, { "database": "PubMed", "id": "21337012", "url": "https://glygen.org/publication/PubMed/21337012" } ] }, { "annotation": "May play an important role in the development of cancers in a broad range of tissues.", "evidence": [ { "database": "UniProtKB", "id": "Q8IV36", "url": "https://www.uniprot.org/uniprot/Q8IV36#function" }, { "database": "PubMed", "id": "11281419", "url": "https://glygen.org/publication/PubMed/11281419" } ] }, { "annotation": "Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.", "evidence": [ { "database": "RefSeq", "id": "NP_085133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085133" }, { "database": "PubMed", "id": "33999436", "url": "https://glygen.org/publication/PubMed/33999436" } ] } ], "disease": [ { "disease_id": "DOID:0070391", "recommended_name": { "id": "DOID:0070391", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070391", "name": "developmental and epileptic encephalopathy 105", "description": "A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25." }, "synonyms": [ { "id": "DOID:0070391", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070391", "name": "DEE105", "description": "" 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"ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K391", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q8IV36", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8IV36" }, { "id": "rs377141103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377141103" }, { "id": "rs377141103", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377141103" }, { "id": "rs377141103", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377141103" }, { "id": "rs377141103", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377141103#frequency_tab" }, { "id": "rs377141103", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377141103" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 412, "end_pos": 412, "subjects_tested": "0", "subjects_positive": "0", "frequency": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q8IV36", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IV36" } ], "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": 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"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 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q8IV36", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IV36" } ], "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/Q8IV36" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q8IV36", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IV36" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF12722", "url": "http://pfam.xfam.org/family/PF12722", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q8IV36", "url": "https://pharos.nih.gov/targets/Q8IV36", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q8IV36", "url": "http://purl.obolibrary.org/obo/PR_Q8IV36", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_085133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085133", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "E9PIM7", "url": "https://www.uniprot.org/uniprot/E9PIM7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PIM7-1", "url": "https://www.uniprot.org/uniprot/E9PIM7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PMS4", "url": "https://www.uniprot.org/uniprot/E9PMS4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PMS4-1", "url": 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"MGSTDSKLNFRKAVIQLTTKTQPVEATDDAFWDQFWADTATSVQDVFALVPAAEIRAVREESPSNLATLCYKAVEKLVQGAESGCHSEKEKQIVLNCSRLLTRVLPYIFEDPDWRGFFWSTVPGAGRGGQGEEDDEHARPLAESLLLAIADLLFCPDFTVQSHRRSTVDSAEDVHSLDSCEYIWEAGVGFAHSPQPNYIHDMNRMELLKLLLTCFSEAMYLPPAPESGSTNPWVQFFCSTENRHALPLFTSLLNTVCAYDPVGYGIPYNHLLFSDYREPLVEEAAQVLIVTLDHDSASSASPTVDGTTTGTAMDDADPPGPENLFVNYLSRIHREEDFQFILKGIARLLSNPLLQTYLPNSTKKIQFHQELLVLFWKLCDFNKKFLFFVLKSSDVLDILVPILFFLNDARADQSRVGLMHIGVFILLLLSGERNFGVRLNKPYSIRVPMDIPVFTGTHADLLIVVFHKIITSGHQRLQPLFDCLLTIVVNVSPYLKSLSMVTANKLLHLLEAFSTTWFLFSAAQNHHLVFFLLEVFNNIIQYQFDGNSNLVYAIIRKRSIFHQLANLPTDPPTIHKALQRRRRTPEPLSRTGSQEGTSMEGSRPAAPAEPGTLKTSLVATPGIDKLTEKSQVSEDGTLRSLEPEPQQSLEDGSPAKGEPSQAWREQRRPSTSSASGQWSPTPEWVLSWKSKLPLQTIMRLLQVLVPQVEKICIDKGLTDESEILRFLQHGTLVGLLPVPHPILIRKYQANSGTAMWFRTYMWGVIYLRNVDPPVWYDTDVKLFEIQRV", "length": 788, "header": "sp|Q8IV36-1|HID1_HUMAN Isoform 1 of Protein HID1 OS=Homo sapiens OX=9606 GN=HID1 PE=1 SV=1 CANONICAL=Q8IV36-1" }, "locus": { "chromosome": "17", "start_pos": 74972656, "end_pos": 74951573, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000425042.7", "url": "https://www.ensembl.org/id/ENST00000425042.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000413520.2", "url": "https://www.ensembl.org/id/ENSP00000413520.2" } ] } }, { "isoform_ac": "Q8IV36-2", "url": "", "sequence": { "sequence": "MGSTDSKLNFRKAVIQLTTKTQPVEATDDAFWDQFWADTATSVQDVFALVPAAEIRAVREESPSNLATLCYKAVEKLVQGAESGCHSEKEKQIVLNCSRLLTRVLPYIFEDPDWRGFFWSTVPGAGRGGGEEDDEHARPLAESLLLAIADLLFCPDFTVQSHRRSTVDSAEDVHSLDSCEYIWEAGVGFAHSPQPNYIHDMNRMELLKLLLTCFSEAMYLPPAPESGSTNPWVQFFCSTENRHALPLFTSLLNTVCAYDPVGYGIPYNHLLFSDYREPLVEEAAQVLIVTLDHDSASSASPTVDGTTTGTAMDDADPPGPENLFVNYLSRIHREEDFQFILKGIARLLSNPLLQTYLPNSTKKIQFHQELLVLFWKLCDFNKKFLFFVLKSSDVLDILVPILFFLNDARADQSRVGLMHIGVFILLLLSGERNFGVRLNKPYSIRVPMDIPVFTGTHADLLIVVFHKIITSGHQRLQPLFDCLLTIVVNVSPYLKSLSMVTANKLLHLLEAFSTTWFLFSAAQNHHLVFFLLEVFNNIIQYQFDGNSNLVYAIIRKRSIFHQLANLPTDPPTIHKALQRRRRTPEPLSRTGSQEGTSMEGSRPAAPAEPGTLKTSLVATPGIDKLTEKSQVSEDGTLRSLEPEPQQSLEDGSPAKGEPSQAWREQRRPSTSSASGQWSPTPEWVLSWKSKLPLQTIMRLLQVLVPQVEKICIDKGLTDESEILRFLQHGTLVGLLPVPHPILIRKYQANSGTAMWFRTYMWGVIYLRNVDPPVWYDTDVKLFEIQRV", "length": 787, "header": "sp|Q8IV36-2|HID1_HUMAN Isoform 2 of Protein HID1 OS=Homo sapiens OX=9606 GN=HID1 PE=1 SV=1 CANONICAL=Q8IV36-1" }, "locus": {} }, { "isoform_ac": "Q8IV36-3", "url": "", "sequence": { "sequence": "MGSTDSKLNFRKAVIQLTTKTQPVEATDDAYDPVGYGIPYNHLLFSDYREPLVEEAAQVLIVTLDHDSASSASPTVDGTTTGTAMDDADPPGPENLFVNYLSRIHREEDFQFILKGIARLLSNPLLQTYLPNSTKKIQFHQELLVLFWKLCDFNKKFLFFVLKSSDVLDILVPILFFLNDARADQSRVGLMHIGVFILLLLSGERNFGVRLNKPYSIRVPMDIPVFTGTHADLLIVVFHKIITSGHQRLQPLFDCLLTIVVNVSPYLKSLSMVTANKLLHLLEAFSTTWFLFSAAQNHHLVFFLLEVFNNIIQYQFDGNSNLVYAIIRKRSIFHQLANLPTDPPTIHKALQRRRRTPEPLSRTGSQEGTSMEGSRPAAPAEPGTLKTSLVATPGIDKLTEKSQVSEDGTLRSLEPEPQQSLEDGSPAKGEPSQAWREQRRPSTSSASGQWSPTPEWVLSWKSKLPLQTIMRLLQVLVPQVEKICIDKGLTDESEILRFLQHGTLVGLLPVPHPILIRKYQANSGTAMWFRTYMWGVIYLRNVDPPVWYDTDVKLFEIQRV", "length": 560, "header": "sp|Q8IV36-3|HID1_HUMAN Isoform 3 of Protein HID1 OS=Homo sapiens OX=9606 GN=HID1 PE=1 SV=1 CANONICAL=Q8IV36-1" }, "locus": {} }, { "isoform_ac": "X6R4D2-1", "url": "", "sequence": { "sequence": "XDSASSASPTVDGTTTGTAMDDADPPGPENLFVNYLSRIHREEDFQFILKGIARLLSNPLLQTYLPNSTKKIQFHQELLVLFWKLCDFNKKFLFFVLKSSDVLDILVPILFFLNDARADQSRVGLMHIGVFILLLLSGERNFGVRLNKPYSIRVPMDIPVFTGTHADLLIVVFHKIITSGHQRLQPLFDCLLTIVVNGRGPELALPALTTRWCQATGQPATCSRFQAPPAHRKNASLCTLHSSHIKKKG", "length": 249, "header": "tr|X6R4D2-1|HID1_HUMAN Computationally mapped isoform of Protein HID1 OS=Homo sapiens OX=9606 GN=HID1 PE=1 SV=1 CANONICAL=Q8IV36-1" }, "locus": { "chromosome": "17", "start_pos": 74960095, "end_pos": 74957984, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000318565.11", "url": "https://www.ensembl.org/id/ENST00000318565.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000317795.7", "url": "https://www.ensembl.org/id/ENSP00000317795.7" } ] } } ], "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": 4, "start_aa": "Thr", "end_pos": 4, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr4", "evidence": [ { "id": "Q8IV36", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IV36" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 6, "start_aa": "Ser", "end_pos": 6, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser6", "evidence": [ { "id": "Q8IV36", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IV36" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "Q8IV36", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IV36" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 87, "start_aa": "Ser", "end_pos": 87, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser87", "evidence": [ { "id": "Q8IV36", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IV36" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" } ] } ], "phosphorylation": [ { "start_pos": 593, "end_pos": 593, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8IV36", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IV36" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser593" }, { "start_pos": 653, "end_pos": 653, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IV36", "url": "https://www.uniprot.org/uniprot/Q8IV36" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q8IV36", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IV36" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Ser653" }, { "start_pos": 670, "end_pos": 670, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IV36", "url": "https://www.uniprot.org/uniprot/Q8IV36" } ], "site_lbl": "Ser670" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification of DMC1, a novel gene in the TOC region on 17q25.1 that shows loss of expression in multiple human cancers.", "journal": "J. Hum. Genet.", "date": "2001", "authors": "Emi M., Sugano S., Nagai H., Harada H., Mikami I., Tsuneizumi M.", "evidence": [ { "database": "UniProtKB", "id": "Q8IV36", "url": "https://www.uniprot.org/uniprot/Q8IV36" } ], "reference": [ { "type": "PubMed", "id": "11281419", "url": "https://glygen.org/publication/PubMed/11281419" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "Q8IV36-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IV36-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "Q8IV36-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IV36-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "HID-1 is a peripheral membrane protein primarily associated with the medial- and trans- Golgi apparatus.", "journal": "Protein Cell", "date": "2011", "authors": "Wang L, Zhan Y, Song E, Yu Y, Jiu Y, Du W, Lu J, Liu P, Xu P, Xu T", "evidence": [ { "database": "UniProtKB", "id": "Q8IV36", "url": "https://www.uniprot.org/uniprot/Q8IV36" }, { "database": "RefSeq", "id": "NP_085133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085133" } ], "reference": [ { "type": "PubMed", "id": "21337012", "url": "https://glygen.org/publication/PubMed/21337012" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q8IV36", "url": "https://www.uniprot.org/uniprot/Q8IV36" }, { "database": "iPTMnet", "id": "Q8IV36", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IV36" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.", "journal": "Nature genetics", "date": "2012", "authors": "Krauthammer M, Kong Y, Ha BH, Evans P, Bacchiocchi A, McCusker JP, Cheng E, Davis MJ, Goh G, Choi M, Ariyan S, Narayan D, Dutton-Regester K, Capatana A, Holman EC, Bosenberg M, Sznol M, Kluger HM, Brash DE, Stern DF, Materin MA, Lo RS, Mane S, Ma S, Kidd KK, Hayward NK, Lifton RP, Schlessinger J, Boggon TJ, Halaban R", "evidence": [ { "database": "dbSNP", "id": "rs1235179653", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235179653" } ], "reference": [ { "type": "PubMed", "id": "22842228", "url": "https://glygen.org/publication/PubMed/22842228" } ] }, { "title": "HID-1 controls formation of large dense core vesicles by influencing cargo sorting and trans-Golgi network acidification.", "journal": "Molecular biology of the cell", "date": "2017", "authors": "Hummer BH, de Leeuw NF, Burns C, Chen L, Joens MS, Hosford B, Fitzpatrick JAJ, Asensio CS", "evidence": [ { "database": "RefSeq", "id": "NP_085133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085133" } ], "reference": [ { "type": "PubMed", "id": "29074564", "url": "https://glygen.org/publication/PubMed/29074564" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IV36", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IV36" }, { "database": "O-GlcNAc Atlas", "id": "Q8IV36", "url": "https://oglcnac.org/atlas/detail/Q8IV36" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IV36", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IV36" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.", "journal": "Ann. Neurol.", "date": "2021", "authors": "Schanzer A, Achleitner MT, Trumbach D, Hubert L, Munnich A, Ahlemeyer B, AlAbdulrahim MM, Greif PA, Vosberg S, Hummer B, Feichtinger RG, Mayr JA, Wortmann SB, Aichner H, Rudnik-Schoneborn S, Ruiz A, Gabau E, Sanchez JP, Ellard S, Homfray T, Stals KL, Wurst W, Neubauer BA, Acker T, Bohlander SK, Asensio C, Besmond C, Alkuraya FS, AlSayed MD, Hahn A, Weber A", "evidence": [ { "database": "UniProtKB", "id": "Q8IV36", "url": "https://www.uniprot.org/uniprot/Q8IV36" }, { "database": "RefSeq", "id": "NP_085133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085133" } ], "reference": [ { "type": "PubMed", "id": "33999436", "url": "https://glygen.org/publication/PubMed/33999436" } ] } ], "pathway": [ { "id": "hsa:283987", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:283987", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D4A0C3-1", "protein_name": "HID1 domain containing", "gene_name": "Hid1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGSADSKLNFRKAVIQLTTKTQPVEATDNAFWDQFWADTATSVQDVFALVPAAEIRAVREESPSNLATLCYKAVEKLVQGAEGGCHSEKEKQVVLNCSRLLTRVLPYIFEDPDWRGFFWSTVPGAGRGGGEEEDENARPLAESLLLAIADLLFCPDFTVQNHRRNDVDSAEDVHSLDSCEYIWEAGVGFAHSPQPNYIHDMNRMELLKLLLTCFSEAMYLPPSPESGSTNPWVQFFCSTENRHALPLFTSLLNTVCAYDPVGYGIPYNHLLFSDYREPLVEEAAQVLIVTLDHDSATSTSPTVDGTTTGTVMDDADPPGPENLFVNYLSRIHREEDFQFILKGIARLLSNPLLQTYLPNSTKKIQFHQELLVLFWKLCDFNKKFLFFVLKSSDVLDILVPILYFLNDARADQSRVGLMHIGVFILLLLSGERNFGVRLNKPYSVRVPMDIPVFTGTHADLLIVVFHKIITSGHQRLQPLFDCLLTIVVNVSPYLKSLSMVTANKLLHLLEAFSTTWFLFSASQNHHLVFFLLEVFNNIIQYQFDGNSNLVYAIIRKRGVFHQLANLPTDPPSIHKALQRRRRTPEPLSRAGSQEGASMEGSRPAAPAEPGTLKTSLVATPGIDKLTEKSQVSEDGTLRSLEPESQQNSAEGSPSEGEPNQTWREQRRLSNASASGQWSPTSDWILSWKSKLPLQTIMRLLQVLVPQVEKICIDKGLTDESEILRFLQHGTLVGLLPVPHPILIRKYQANSGTAMWFRTYMWGVIYLRNVDPPIWYDTDVKLFEIQRV", "length": 787 }, "evidence": [ { "id": "45236571", "url": "http://www.informatics.jax.org/homology/45236571", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8R1F6-1", "protein_name": "Protein HID1", "gene_name": "Hid1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGSADSKLNFRKAVIQLTTKTQPVEATDNAFWDQFWADTATSVQDVFALVPAAEIRAVREESPSNLATLCYKAVEKLVQGAEGGCHSEKEKQVVLNCSRLLTRVLPYIFEDPDWRGFFWSTVPGAGRGGQGEEEDENARPLAESLLLAIADLLFCPDFTVQNHRRNDVDSAEDVHSLDSCEYIWEAGVGFAHSPQPNYIHDMNRMELLKLLLTCFSEAMYLPPSPESGSTNPWVQFFCSTENRHALPLFTSLLNTVCAYDPVGYGIPYNHLLFSDYREPLVEEAAQVLIVTLDHDSATSTSPTVDGTTTGTAMDDADPPGPENLFVNYLSRIHREEDFQFILKGIARLLSNPLLQTYLPNSTKKIQFHQELLVLFWKLCDFNKKFLFFVLKSSDVLDILVPILYFLNDARADQSRVGLMHIGVFILLLLSGERNFGVRLNKPYSVRVPMDIPVFTGTHADLLIVVFHKIITSGHQRLQPLFDCLLTIVVNVSPYLKSLSMVTANKLLHLLEAFSTTWFLFSASQNHHLVFFLLEVFNNIIQYQFDGNSNLVYAIIRKRAVFHQLANLPTDPPSIHKALQRRRRTPEPLSRTGSQEGTSMEGSRPAAPAEPGTLKTSLVATPGIDKLTEKSQVSEDGTLRSLEPESQQSSAENSPSDGESSQTWREQRRLSNASASGQWSPTSDWILSWKSKLPLQTIMRLLQVLVPQVEKICIDKGLTDESEILRFLQHGTLVGLLPVPHPILIRKYQANSGTAMWFRTYMWGVIYLRNVDPPIWYDTDVKLFEIQRV", "length": 788 }, "evidence": [ { "id": "45236571", "url": "http://www.informatics.jax.org/homology/45236571", "database": "MGI" }, { "id": "Q8IV36", "url": "https://omabrowser.org/oma/group/Q8IV36/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 9, "go_terms": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8IV36", "url": "https://www.uniprot.org/uniprot/Q8IV36" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8IV36", "url": "https://www.uniprot.org/uniprot/Q8IV36" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8IV36", "url": "https://www.uniprot.org/uniprot/Q8IV36" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8IV36", "url": "https://www.uniprot.org/uniprot/Q8IV36" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q8IV36", "url": "https://www.uniprot.org/uniprot/Q8IV36" } ], "pmid": "" }, { "name": "Golgi medial cisterna", "id": "GO:0005797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005797", "evidence": [ { "database": "UniProtKB", "id": "Q8IV36", "url": "https://www.uniprot.org/uniprot/Q8IV36" } ], "pmid": "" }, { "name": "cytoplasmic microtubule", "id": "GO:0005881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005881", "evidence": [ { "database": "UniProtKB", "id": "Q8IV36", "url": "https://www.uniprot.org/uniprot/Q8IV36" } ], "pmid": "" }, { "name": "Golgi trans cisterna", "id": "GO:0000138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000138", "evidence": [ { "database": "UniProtKB", "id": "Q8IV36", "url": "https://www.uniprot.org/uniprot/Q8IV36" } ], "pmid": "" }, { "name": "cytoplasmic side of Golgi membrane", "id": "GO:0098548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098548", "evidence": [ { "database": "UniProtKB", "id": "Q8IV36", "url": "https://www.uniprot.org/uniprot/Q8IV36" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 360, "end_pos": 362, "annotation": "n_glycosylation_sequon" }, { "start_pos": 490, "end_pos": 492, "annotation": "n_glycosylation_sequon" }, { "start_pos": 96, "end_pos": 98, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { 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