{ "uniprot_canonical_ac": "O14678-1", "uniprot_ac": "O14678", "uniprot_id": "ABCD4_HUMAN", "mass": { "chemical_mass": 68597.0, "monoisotopic_mass": 68597.0 }, "refseq": { "ac": "NP_005041", "name": "lysosomal cobalamin transporter ABCD4 isoform a", "summary": "The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in several protein-coding and non-protein-coding variants. [provided by RefSeq, Jul 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005041" }, "gene_names": [ { "name": "ABCD4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14678", "id": "O14678" }, { "name": "ABC41; EST352188; MAHCJ; P70R; P79R; PMP69; PXMP1L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005041", "id": "NP_005041" }, { "name": "ABCD4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005041", "id": "NP_005041" }, { "name": "PXMP1L", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14678", "id": "O14678" } ], "protein_names": [ { "name": "Lysosomal cobalamin transporter ABCD4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14678" }, { "name": "7.6.2.8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14678" }, { "name": "ATP-binding cassette sub-family D member 4; peroxisomal membrane protein 69; 69 kDa peroxisomal ABC-transporter; PMP70-related protein; PXMP1-L; ATP-binding cassette, sub-family D (ALD), member 4; lysosomal cobalamin transporter ABCD4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005041", "id": "NP_005041" }, { "name": "ATP-binding cassette sub-family D member 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14678" }, { "name": "P70R", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14678" }, { "name": "PMP69", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14678" }, { "name": "PMP70-related protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14678" }, { "name": "PXMP1-L", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14678" }, { "name": "Peroxisomal membrane protein 1-like", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14678" }, { "name": "Peroxisomal membrane protein 69", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14678" }, { "name": "lysosomal cobalamin transporter ABCD4 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005041", "id": "NP_005041" } ], "function": [ { "annotation": "Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.", "evidence": [ { "database": "RefSeq", "id": "NP_005041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005041" }, { "database": "PubMed", "id": "33729671", "url": "https://glygen.org/publication/PubMed/33729671" } ] }, { "annotation": "Cryo-EM structure of human lysosomal cobalamin exporter ABCD4.", "evidence": [ { "database": "RefSeq", "id": "NP_005041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005041" }, { "database": "PubMed", "id": "31467407", "url": "https://glygen.org/publication/PubMed/31467407" } ] }, { "annotation": "Data suggest that ABCD4 lysosomal targeting depends on co-expression of and interaction with LMBRD1; mutations in LMBRD1 and ABCD4 that result in cobalamin metabolism disorders cblF and cblJ (or mutations in ATPase domain) disrupt interactions between LMBRD1 and ABCD4. (LMBRD1 = nuclear export signal-interacting protein; ABCD4 = ATP-binding cassette, sub-family D (ALD), member 4)", "evidence": [ { "database": "RefSeq", "id": "NP_005041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005041" }, { "database": "PubMed", "id": "28572511", "url": "https://glygen.org/publication/PubMed/28572511" } ] }, { "annotation": "Lysosomal membrane protein that transports cobalamin (Vitamin B12) from the lysosomal lumen to the cytosol in an ATP-dependent manner (PubMed:22922874, PubMed:33845046, PubMed:28572511, PubMed:31467407). Targeted by LMBRD1 lysosomal chaperone from the endoplasmic reticulum to the lysosomal membrane (PubMed:27456980). Then forms a complex with lysosomal chaperone LMBRD1 and cytosolic MMACHC to transport cobalamin across the lysosomal membrane (PubMed:25535791).", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678#function" }, { "database": "PubMed", "id": "22922874", "url": "https://glygen.org/publication/PubMed/22922874" }, { "database": "PubMed", "id": "27456980", "url": "https://glygen.org/publication/PubMed/27456980" }, { "database": "PubMed", "id": "33845046", "url": "https://glygen.org/publication/PubMed/33845046" }, { "database": "PubMed", "id": "28572511", "url": "https://glygen.org/publication/PubMed/28572511" }, { "database": "PubMed", "id": "25535791", "url": "https://glygen.org/publication/PubMed/25535791" }, { "database": "PubMed", "id": "31467407", "url": "https://glygen.org/publication/PubMed/31467407" } ] }, { "annotation": "The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in several protein-coding and non-protein-coding variants. [provided by RefSeq, Jul 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_005041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005041" } ] }, { "annotation": "Utilizing whole-exome sequencing, we found two novel MTR variants c.871C>T (p.Pro291Ser) and c.1771C>T (p.Arg591*) in Patient 1, and a ABCD4 homozygous variant c.423C>G (p.Asn141Lys) in Patient 2. Our study identified the first Cobalamin Gpatient and cobalamin J patient in mainland China, and highlighted comprehensive metabolic analyses and genetic tests in patients suspected of cobalamin defects", "evidence": [ { "database": "RefSeq", "id": "NP_005041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005041" }, { "database": "PubMed", "id": "30651581", "url": "https://glygen.org/publication/PubMed/30651581" } ] } ], "disease": [ { "disease_id": "MONDO:0013925", "recommended_name": { "id": "MONDO:0013925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013925", "name": "methylmalonic acidemia with homocystinuria, type cblJ", "description": "" }, "synonyms": [ { "id": "MONDO:0013925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013925", "name": "cblJ defects", "description": "" }, { "id": "MONDO:0013925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013925", "name": "cobalamin J defect", "description": "" }, { "id": "MONDO:0013925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013925", "name": "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ", "description": "" }, { "id": "MONDO:0013925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013925", "name": "methylmalonic aciduria with homocystinuria, type cblJ", "description": "" }, { "id": "MONDO:0013925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013925", "name": "MAHCJ", "description": "" }, { "id": "MONDO:0013925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013925", "name": "methylmalonic acidemia with homocystinuria type cblJ", "description": "" }, { "id": "MONDO:0013925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013925", "name": "methylmalonic aciduria and homocystinuria, cblJ type", "description": "" }, { "id": "MIM:614857", "resource": "MIM", "url": "https://www.omim.org/entry/614857", "name": "Methylmalonic aciduria and homocystinuria type cblJ", "description": "Methylmalonic aciduria and homocystinuria type cblJ" } ], "evidence": [ { "id": "614857", "database": "MIM", "url": "https://www.omim.org/entry/614857" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 141, "end_pos": 141, "sequence_org": "N", "sequence_mut": "A", "comment": "Does not affect ATPase nor cobalamin transport activities.", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" }, { "database": "PubMed", "id": "33845046", "url": "https://glygen.org/publication/PubMed/33845046" } ] }, { "start_pos": 141, "end_pos": 141, "sequence_org": "N", "sequence_mut": "D", "comment": "Does not affect ATPase nor cobalamin transport activities.", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" }, { "database": "PubMed", "id": "33845046", "url": "https://glygen.org/publication/PubMed/33845046" } ] }, { "start_pos": 319, "end_pos": 319, "sequence_org": "Y", "sequence_mut": "A", "comment": "Decreases of ATPase activity. Decreases cobalamin transport activity.", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" }, { "database": "PubMed", "id": "33845046", "url": "https://glygen.org/publication/PubMed/33845046" } ] }, { "start_pos": 319, "end_pos": 319, "sequence_org": "Y", "sequence_mut": "F", "comment": "Does not affect ATPase activity. Does not affect cobalamin transport activity.", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" }, { "database": "PubMed", "id": "33845046", "url": "https://glygen.org/publication/PubMed/33845046" } ] }, { "start_pos": 426, "end_pos": 426, "sequence_org": "G", "sequence_mut": "A", "comment": "Decreases interaction with LMBD1. Decreases colocalization with LMBD1. Decreases cobalamin transport activity.", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" }, { "database": "PubMed", "id": "28572511", "url": "https://glygen.org/publication/PubMed/28572511" } ] }, { "start_pos": 427, "end_pos": 427, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of ATPase activity. Loss of cobalamin transport activity.", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" }, { "database": "PubMed", "id": "33845046", "url": "https://glygen.org/publication/PubMed/33845046" } ] }, { "start_pos": 427, "end_pos": 427, "sequence_org": "K", "sequence_mut": "L", "comment": "Decreases interaction with LMBD1. Decreases colocalization with LMBD1. Decreases cobalamin transport activity. Reduces synthesis of adenosylcobalamin and methylcobalamin.", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" }, { "database": "PubMed", "id": "22922874", "url": "https://glygen.org/publication/PubMed/22922874" }, { "database": "PubMed", "id": "28572511", "url": "https://glygen.org/publication/PubMed/28572511" } ] }, { "start_pos": 548, "end_pos": 548, "sequence_org": "D", "sequence_mut": "N", "comment": "Decreases interaction with LMBD1. Reduces synthesis of adenosylcobalamin and methylcobalamin.", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" }, { "database": "PubMed", "id": "22922874", "url": "https://glygen.org/publication/PubMed/22922874" }, { "database": "PubMed", "id": "28572511", "url": "https://glygen.org/publication/PubMed/28572511" } ] }, { "start_pos": 549, "end_pos": 549, "sequence_org": "E", "sequence_mut": "Q", "comment": "Decreases ATPase activity. Reduces synthesis of adenosylcobalamin and methylcobalamin.", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" }, { "database": "PubMed", "id": "22922874", "url": "https://glygen.org/publication/PubMed/22922874" }, { "database": "PubMed", "id": "31467407", "url": "https://glygen.org/publication/PubMed/31467407" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "85.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000119688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119688" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "76.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000119688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119688" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "79.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000119688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119688" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "73.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000119688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119688" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000119688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119688" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000119688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119688" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "76.26", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000119688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119688" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "87.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000119688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119688" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "94.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000119688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119688" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "74.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000119688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119688" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "88.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000119688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119688" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000119688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119688" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000119688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119688" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14678", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14678" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O14678", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14678" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O14678", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14678" } ], "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": 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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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14678", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14678" } ], "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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}, { "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": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" } ], "common_name": "Human" } ], "gene": [ { "name": "ABCD4", "url": "https://www.uniprot.org/uniprot/O14678", "locus": { "chromosome": "14", "start_pos": 74285269, "end_pos": 74303055, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000119688", "url": "https://www.ensembl.org/id/ENSG00000119688" } ] } } ], "crossref": [ { "id": "ENSG00000119688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119688", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "7.6.2.8", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=7.6.2.8&UniProtAcc=O14678", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd03223", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03223", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "ABCD4", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCD4", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "5826", "url": "https://www.ncbi.nlm.nih.gov/gene/5826", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "68", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=68", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O14678", "url": "https://www.ebi.ac.uk/intact/interactors/id:O14678*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003439", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003439", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003593", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003593", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011527", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011527", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017871", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017871", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036640", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036640", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:5826", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5826", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603214", "url": "http://www.omim.org/entry/603214", "database": "MIM", "categories": [ "Other" ] }, { "id": "614857", "url": "http://www.omim.org/entry/614857", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O14678", "url": "https://www.nextprot.org/entry/NX_O14678", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "RFWISAR", "url": "https://omabrowser.org/oma/group/RFWISAR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "7698at2759", "url": "http://www.orthodb.org/?query=7698at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11384", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11384", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11384:SF59", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11384:SF59", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "6JBJ", "url": "https://www.rcsb.org/structure/6JBJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00005", "url": "http://pfam.xfam.org/family/PF00005", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF06472", "url": "http://pfam.xfam.org/family/PF06472", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O14678", "url": "https://pharos.nih.gov/targets/O14678", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O14678", "url": "http://purl.obolibrary.org/obo/PR_O14678", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5683329", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683329", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9758881", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9758881", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9758890", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9758890", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_005041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005041", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "17873", "url": "https://www.rhea-db.org/rhea/17873", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "E9PI46", "url": "https://www.uniprot.org/uniprot/E9PI46", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PI46-1", "url": "https://www.uniprot.org/uniprot/E9PI46-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PPB6", "url": "https://www.uniprot.org/uniprot/E9PPB6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PPB6-1", "url": "https://www.uniprot.org/uniprot/E9PPB6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3W1", "url": "https://www.uniprot.org/uniprot/G3V3W1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3W1-1", "url": "https://www.uniprot.org/uniprot/G3V3W1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V4U7", "url": "https://www.uniprot.org/uniprot/G3V4U7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V4U7-1", "url": "https://www.uniprot.org/uniprot/G3V4U7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YCY9", "url": "https://www.uniprot.org/uniprot/H0YCY9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YCY9-1", "url": "https://www.uniprot.org/uniprot/H0YCY9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJ78", "url": "https://www.uniprot.org/uniprot/H0YJ78", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJ78-1", "url": "https://www.uniprot.org/uniprot/H0YJ78-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJ82", "url": "https://www.uniprot.org/uniprot/H0YJ82", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJ82-1", "url": "https://www.uniprot.org/uniprot/H0YJ82-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJL8", "url": "https://www.uniprot.org/uniprot/H0YJL8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJL8-1", "url": "https://www.uniprot.org/uniprot/H0YJL8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJX8", "url": "https://www.uniprot.org/uniprot/H0YJX8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJX8-1", "url": "https://www.uniprot.org/uniprot/H0YJX8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14678-1", "url": "https://www.uniprot.org/uniprot/O14678-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAVAGPAPGAGARPRLDLQFLQRFLQILKVLFPSWSSQNALMFLTLLCLTLLEQFVIYQVGLIPSQYYGVLGNKDLEGFKTLTFLAVMLIVLNSTLKSFDQFTCNLLYVSWRKDLTEHLHRLYFRGRAYYTLNVLRDDIDNPDQRISQDVERFCRQLSSMASKLIISPFTLVYYTYQCFQSTGWLGPVSIFGYFILGTVVNKTLMGPIVMKLVHQEKLEGDFRFKHMQIRVNAEPAAFYRAGHVEHMRTDRRLQRLLQTQRELMSKELWLYIGINTFDYLGSILSYVVIAIPIFSGVYGDLSPAELSTLVSKNAFVCIYLISCFTQLIDLSTTLSDVAGYTHRIGQLRETLLDMSLKSQDCEILGESEWGLDTPPGWPAAEPADTAFLLERVSISAPSSDKPLIKDLSLKISEGQSLLITGNTGTGKTSLLRVLGGLWTSTRGSVQMLTDFGPHGVLFLPQKPFFTDGTLREQVIYPLKEVYPDSGSADDERILRFLELAGLSNLVARTEGLDQQVDWNWYDVLSPGEMQRLSFARLFYLQPKYAVLDEATSALTEEVESELYRIGQQLGMTFISVGHRQSLEKFHSLVLKLCGGGRWELMRIKVE", "length": 606, "header": "sp|O14678-1|ABCD4_HUMAN Isoform 1 of Lysosomal cobalamin transporter ABCD4 OS=Homo sapiens OX=9606 GN=ABCD4 PE=1 SV=1 CANONICAL=O14678-1" }, "isoforms": [ { "isoform_ac": "E9PI46-1", "url": "", "sequence": { "sequence": "MAVAGPAPGAGARPRLDLQFLQRFLQILKVLFPSWSSQNALMFLTLLCLTLLAEEL", "length": 56, "header": "tr|E9PI46-1|E9PI46_HUMAN Computationally mapped isoform of ATP binding cassette subfamily D member 4 OS=Homo sapiens OX=9606 GN=ABCD4 PE=1 SV=1 CANONICAL=O14678-1" }, "locus": { "chromosome": "14", "start_pos": 74302912, "end_pos": 74298059, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553486.5", "url": "https://www.ensembl.org/id/ENST00000553486.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450611.1", "url": "https://www.ensembl.org/id/ENSP00000450611.1" } ] } }, { "isoform_ac": "E9PPB6-1", "url": "", "sequence": { "sequence": "MAVAGPAPGAGARAICDLPGWLDPQSVLWGPGKQRLGRV", "length": 39, "header": "tr|E9PPB6-1|E9PPB6_HUMAN Computationally mapped isoform of ATP binding cassette subfamily D member 4 OS=Homo sapiens OX=9606 GN=ABCD4 PE=1 SV=1 CANONICAL=O14678-1" }, "locus": { "chromosome": "14", "start_pos": 74302912, "end_pos": 74299597, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000469672.5", "url": "https://www.ensembl.org/id/ENST00000469672.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000434626.1", "url": "https://www.ensembl.org/id/ENSP00000434626.1" } ] } }, { "isoform_ac": "G3V3W1-1", "url": "", "sequence": { "sequence": "MAVAGPAPGAGARPRLDLQFLQRFLQILKVLFPSWSSQNALMFLTLLCLTLLGTSASARTWSDSAGSSAAWPASSSSPRSPSSTTLTSASKAQAGSGL", "length": 98, "header": "tr|G3V3W1-1|ABCD4_HUMAN Computationally mapped isoform of Lysosomal cobalamin transporter ABCD4 OS=Homo sapiens OX=9606 GN=ABCD4 PE=1 SV=1 CANONICAL=O14678-1" }, "locus": { "chromosome": "14", "start_pos": 74302912, "end_pos": 74295960, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000554453.5", "url": "https://www.ensembl.org/id/ENST00000554453.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451457.1", "url": "https://www.ensembl.org/id/ENSP00000451457.1" } ] } }, { "isoform_ac": "G3V4U7-1", "url": "", "sequence": { "sequence": "MAVAGPAPGAGARPRLDLQFLQRFLQILKVLFPSWSSQNALMFLTLLCLTLLEQFVIYQVGLIPSQYYGVLGNKDLEGFKTLTFLAVMLIVLNSTLKSFDQFTCNLLYVSWRKDLTEHLHRLYFRGRAYYTLNVLRDDIDNPDQRISQDVERFCRQLSSMASKLIISPFTLVYYTYQCFQRFKHMQIRVNAEPAAFYSRHQHL", "length": 203, "header": "tr|G3V4U7-1|ABCD4_HUMAN Computationally mapped isoform of Lysosomal cobalamin transporter ABCD4 OS=Homo sapiens OX=9606 GN=ABCD4 PE=1 SV=1 CANONICAL=O14678-1" }, "locus": { "chromosome": "14", "start_pos": 74302912, "end_pos": 74292854, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557588.5", "url": "https://www.ensembl.org/id/ENST00000557588.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451993.1", "url": "https://www.ensembl.org/id/ENSP00000451993.1" } ] } }, { "isoform_ac": "H0YCY9-1", "url": "", "sequence": { "sequence": "XVVIAIPIFSGVYGDLSPAELSTLVSKNAFVCIYLISCFTQLIDLSTTLSDVAGYTHRIGQLRETLLDMSLKSQDCEILGESEWGLDTPPGWPAAEPADTAFLLERVSISAPSSDKPLIKDLSLKISEGQSLLITGNTGTGKTSLLRVLGGLWTSTRGDISPEGGLPRLRFCR", "length": 173, "header": "tr|H0YCY9-1|ABCD4_HUMAN Computationally mapped isoform of Lysosomal cobalamin transporter ABCD4 OS=Homo sapiens OX=9606 GN=ABCD4 PE=1 SV=1 CANONICAL=O14678-1" }, "locus": { "chromosome": "14", "start_pos": 74292826, "end_pos": 74288754, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000474270.1", "url": "https://www.ensembl.org/id/ENST00000474270.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000432557.1", "url": "https://www.ensembl.org/id/ENSP00000432557.1" } ] } }, { "isoform_ac": "H0YJ78-1", "url": "", "sequence": { "sequence": "XERVSISAPSSDKPLIKDLSLKISEGQSLLITGNTGTGKTSLLRVLGGLWTSTRGSVQMLTDFGPHGVLFLPQKPFFTDGTLREQVIYPLKEVYPDSGSADDERILRFLELAGLVSGERDPQDPSPPGSTSYSPTWWQGQRAWTSRWTGTGMMFCPRGRCNGSPLPDSSTCSRSTQCLMKPPVP", "length": 184, "header": "tr|H0YJ78-1|H0YJ78_HUMAN Computationally mapped isoform of ATP binding cassette subfamily D member 4 OS=Homo sapiens OX=9606 GN=ABCD4 PE=1 SV=1 CANONICAL=O14678-1" }, "locus": { "chromosome": "14", "start_pos": 74290452, "end_pos": 74286792, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000481348.5", "url": "https://www.ensembl.org/id/ENST00000481348.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000434792.1", "url": "https://www.ensembl.org/id/ENSP00000434792.1" } ] } }, { "isoform_ac": "H0YJ82-1", "url": "", "sequence": { "sequence": "XGSADDERILRFLELAGLSNLVARTEGLDQQVDWNWYDVLSPGEMQRLSFARLFYLQPKYAVLDEATSALTEEVESELYRIGQQLGMTFISVGHRQSLEKGSLISMWWWSLVVSFLGSETLWRRKMGADENQSGMKLWLLEGEPHCGGSAALRRDQED", "length": 158, "header": "tr|H0YJ82-1|ABCD4_HUMAN Computationally mapped isoform of Lysosomal cobalamin transporter ABCD4 OS=Homo sapiens OX=9606 GN=ABCD4 PE=1 SV=1 CANONICAL=O14678-1" }, "locus": { "chromosome": "14", "start_pos": 74288768, "end_pos": 74286392, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000555904.1", "url": "https://www.ensembl.org/id/ENST00000555904.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000450982.1", "url": "https://www.ensembl.org/id/ENSP00000450982.1" } ] } }, { "isoform_ac": "H0YJL8-1", "url": "", "sequence": { "sequence": "XRSRGPRPELAPEQFVIYQVGLIPSQYYGVLGNKDLEGFKTLTFLAVMLIVLNSTLKSFDQFTCNLLYVSWRKDLTEHLHRLYFRGRAYYTLNVLRDDIDNPDQRISQDVERFCRQLSSMASKLIISPFTLVYYTYQCFQSTGWLGPVSIFGYFILGTVVNKTLMGPIVMKLVHQEKLEGDFRFKHMQIRVNAEPAAFYSRHQHL", "length": 205, "header": "tr|H0YJL8-1|ABCD4_HUMAN Computationally mapped isoform of Lysosomal cobalamin transporter ABCD4 OS=Homo sapiens OX=9606 GN=ABCD4 PE=1 SV=1 CANONICAL=O14678-1" }, "locus": { "chromosome": "14", "start_pos": 74302910, "end_pos": 74292853, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556971.1", "url": "https://www.ensembl.org/id/ENST00000556971.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000451770.1", "url": "https://www.ensembl.org/id/ENSP00000451770.1" } ] } }, { "isoform_ac": "H0YJX8-1", "url": "", "sequence": { "sequence": "XILGTVVNKTLMGPIVMKLVHQEKLEGDFRFKHMQIRVNAEPAAFYSPVDIPAFPCQSWACGAHEDRPQAAETPSDPEGADVQGALAVHRHQHL", "length": 94, "header": "tr|H0YJX8-1|H0YJX8_HUMAN Computationally mapped isoform of ATP binding cassette subfamily D member 4 OS=Homo sapiens OX=9606 GN=ABCD4 PE=1 SV=1 CANONICAL=O14678-1" }, "locus": { "chromosome": "14", "start_pos": 74295940, "end_pos": 74292852, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553998.5", "url": "https://www.ensembl.org/id/ENST00000553998.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452430.1", "url": "https://www.ensembl.org/id/ENSP00000452430.1" } ] } }, { "isoform_ac": "O14678-1", "url": "", "sequence": { "sequence": "MAVAGPAPGAGARPRLDLQFLQRFLQILKVLFPSWSSQNALMFLTLLCLTLLEQFVIYQVGLIPSQYYGVLGNKDLEGFKTLTFLAVMLIVLNSTLKSFDQFTCNLLYVSWRKDLTEHLHRLYFRGRAYYTLNVLRDDIDNPDQRISQDVERFCRQLSSMASKLIISPFTLVYYTYQCFQSTGWLGPVSIFGYFILGTVVNKTLMGPIVMKLVHQEKLEGDFRFKHMQIRVNAEPAAFYRAGHVEHMRTDRRLQRLLQTQRELMSKELWLYIGINTFDYLGSILSYVVIAIPIFSGVYGDLSPAELSTLVSKNAFVCIYLISCFTQLIDLSTTLSDVAGYTHRIGQLRETLLDMSLKSQDCEILGESEWGLDTPPGWPAAEPADTAFLLERVSISAPSSDKPLIKDLSLKISEGQSLLITGNTGTGKTSLLRVLGGLWTSTRGSVQMLTDFGPHGVLFLPQKPFFTDGTLREQVIYPLKEVYPDSGSADDERILRFLELAGLSNLVARTEGLDQQVDWNWYDVLSPGEMQRLSFARLFYLQPKYAVLDEATSALTEEVESELYRIGQQLGMTFISVGHRQSLEKFHSLVLKLCGGGRWELMRIKVE", "length": 606, "header": "sp|O14678-1|ABCD4_HUMAN Isoform 1 of Lysosomal cobalamin transporter ABCD4 OS=Homo sapiens OX=9606 GN=ABCD4 PE=1 SV=1 CANONICAL=O14678-1" }, "locus": { "chromosome": "14", "start_pos": 74302912, "end_pos": 74286464, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000356924.9", "url": "https://www.ensembl.org/id/ENST00000356924.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000349396.4", "url": "https://www.ensembl.org/id/ENSP00000349396.4" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.", "journal": "Nature genetics", "date": "1999", "authors": "Aminoff M, Carter JE, Chadwick RB, Johnson C, Grasbeck R, Abdelaal MA, Broch H, Jenner LB, Verroust PJ, Moestrup SK, de la Chapelle A, Krahe R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9758881", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9758881" } ], "reference": [ { "type": "PubMed", "id": "10080186", "url": "https://glygen.org/publication/PubMed/10080186" } ] }, { "title": "Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin.", "journal": "Blood", "date": "2000", "authors": "Kristiansen M, Aminoff M, Jacobsen C, de La Chapelle A, Krahe R, Verroust PJ, Moestrup SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9758881", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9758881" } ], "reference": [ { "type": "PubMed", "id": "10887099", "url": "https://glygen.org/publication/PubMed/10887099" } ] }, { "title": "Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8.", "journal": "J. Hum. 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" } ], "pmid": "" }, { "name": "long-chain fatty acid transporter activity", "id": "GO:0005324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005324", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0043190", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" } ], "pmid": "" }, { "name": "very long-chain fatty acid catabolic process", "id": "GO:0042760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042760", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" } ], "pmid": "" }, { "name": "peroxisome organization", "id": "GO:0007031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007031", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" } ], "pmid": "" }, { "name": "long-chain fatty acid import into peroxisome", "id": "GO:0015910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015910", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" } ], "pmid": "" }, { "name": "cobalamin metabolic process", "id": "GO:0009235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009235", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" } ], "pmid": "" }, { "name": "cobalamin transport", "id": "GO:0015889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015889", "evidence": [ { "database": "UniProtKB", "id": "O14678", "url": "https://www.uniprot.org/uniprot/O14678" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 201, "end_pos": 203, "annotation": "n_glycosylation_sequon" }, { "start_pos": 93, "end_pos": 95, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "17873", "name": "", "equation": "an R-cob(III)alamin(out) + ATP + H2O = ADP + an R-cob(III)alamin(in) + H(+) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14678-1", "O89016-1" ], "evidence": [ { "id": "17873", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/17873" } ] }, { "id": "R-HSA-5223313", "name": "ABCD4:LMBRD1 transports RCbl from lysosomal lumen to cytosol (gut mucosal cells)", "equation": "", "summary": "In the mucosal cells of the distal ileum, ATP binding cassette sub family D member 4 (ABCD4) associated with lysosomal cobalamin transport escort protein (LMBRD1) mediates the ATP-dependent export of cobalamins (RCbl) from the lysosome into the cytosol. ABCD4 by itself in liposomes can mediate RCbl transport, indicating that ABCD4, not LBRD1, is directly responsible for intracellular RCbl transport (Kitai et al. 2021). Consistent with this in vitro observation, mutations affecting the ATPase activity of ABCD4 inhibit RCbl transport from the lysosome to the cytosol (Coelho et al. 2012), causing methylmalonic aciduria and homocystinuria type CblJ (MAHCJ; MIM:614857), a disorder of Cbl metabolism characterised by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). LMBRD1 stabilizes ABCD4 in the lysosomal membrane (Kawaguchi et al. 2016) and defects in this protein are associated with a disease phenotype (CblF; MAHCF; MIM: 277380) that mimics CblJ (Rosenblatt et al. 1985, Rutsch et al. 2009).", "cellular_location": "cytosol, lysosomal membrane, lysosomal lumen", "input_participant_list": [ "R-ALL-9759390" ], "output_participant_list": [ "R-ALL-9759394" ], "enzyme_list": [ "O14678-1" ], "evidence": [ { "id": "R-HSA-5223313", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5223313" } ] }, { "id": "R-HSA-5683325", "name": "Defective ABCD4:LMBRD1 does not transport Cbl from lysosomal lumen to cytosol", "equation": "", "summary": "ATP-binding cassette sub-family D member 4 (ABCD4) is thought to mediate the lysosomal export of cobalamin (Cbl aka vitamin B12) into the cytosol, making it available for the production of Cbl cofactors. Cbl is an important cofactor for correct haematological and neurological functions. Defects in ABCD4 can cause methylmalonic aciduria and homocystinuria, cblJ type (MAHCJ; MIM:614857), a genetically heterogeneous metabolic disorder of Cbl metabolism characterised by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinically, symptoms include feeding difficulties, poor growth, hypotonia, lethargy, anaemia and delayed development. Mutations causing MAHCJ include Y319C and E583Lfs*9 (Coelho et al. 2012).", "cellular_location": "cytosol, lysosomal membrane, lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14678-1" ], "evidence": [ { "id": "R-HSA-5683325", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683325" } ] }, { "id": "R-HSA-9759206", "name": "ABCD4:LMBRD1 transports RCbl from lysosomal lumen to cytosol", "equation": "", "summary": "In cells throughout the body that have taken up TCN2:RCbl from the blood, ATP binding cassette sub family D member 4 (ABCD4) associated with lysosomal cobalamin transport escort protein (LMBRD1) mediates the ATP-dependent export of cobalamins (RCbl) from the lysosome into the cytosol. ABCD4 by itself in liposomes can mediate RCbl transport, indicating that ABCD4, not LBRD1, is directly responsible for intracellular RCbl transport (Kitai et al. 2021). Consistent with this in vitro observation, mutations affecting the ATPase activity of ABCD4 inhibit RCbl transport from the lysosome to the cytosol (Coelho et al. 2012), causing methylmalonic aciduria and homocystinuria type CblJ (MAHCJ; MIM:614857), a disorder characterised by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). LMBRD1 stabilizes ABCD4 in the lysosomal membrane (Kawaguchi et al. 2016) and defects in this protein are associated with a disease phenotype (CblF; MAHCF; MIM: 277380) that mimics CblJ (Rosenblatt et al. 1985, Rutsch et al. 2009).", "cellular_location": "cytosol, lysosomal membrane, lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14678-1" ], "evidence": [ { "id": "R-HSA-9759206", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9759206" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-9759390", "participant_name": "RCbl [lysosomal lumen]", "crossref": [ { "id": "140785", "database": "ChEBI", "url": "" }, { "id": "140785", "database": "ChEBI", "url": "" }, { "id": "140785", "database": "ChEBI", "url": "" }, { "id": "140785", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-9759394", "participant_name": "RCbl [cytosol]", "crossref": [ { "id": "140785", "database": "ChEBI", 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