{ "uniprot_canonical_ac": "O43520-1", "uniprot_ac": "O43520", "uniprot_id": "AT8B1_HUMAN", "mass": { "chemical_mass": 143695.0, "monoisotopic_mass": 143695.0 }, "refseq": { "ac": "NP_005594", "name": "phospholipid-transporting ATPase IC isoform 1", "summary": "This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005594" }, "gene_names": [ { "name": "ATP8B1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43520", "id": "O43520" }, { "name": "ATP8B1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005594", "id": "NP_005594" }, { "name": "ATPIC; BRIC; FIC1; ICP1; PFIC; PFIC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005594", "id": "NP_005594" }, { "name": "ATPIC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43520", "id": "O43520" }, { "name": "FIC1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43520", "id": "O43520" }, { "name": "PFIC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43520", "id": "O43520" } ], "protein_names": [ { "name": "Phospholipid-transporting ATPase IC", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43520" }, { "name": "7.6.2.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43520" }, { "name": "ATPase class I type 8B member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43520" }, { "name": "ATPase, class I, type 8B, member 1; phospholipid-transporting ATPase IC; E1-E2 ATPase; probable phospholipid-transporting ATPase IC; familial intrahepatic cholestasis type 1; ATPase, aminophospholipid transporter, class I, type 8B, member 1; P4-ATPase flippase complex alpha subunit ATP8B1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005594", "id": "NP_005594" }, { "name": "Familial intrahepatic cholestasis type 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43520" }, { "name": "P4-ATPase flippase complex alpha subunit ATP8B1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43520" }, { "name": "phospholipid-transporting ATPase IC isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005594", "id": "NP_005594" } ], "function": [ { "annotation": "ATP8B1 Deficiency Results in Elevated Mitochondrial Phosphatidylethanolamine Levels and Increased Mitochondrial Oxidative Phosphorylation in Human Hepatoma Cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005594", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005594" }, { "database": "PubMed", "id": "36293199", "url": "https://glygen.org/publication/PubMed/36293199" } ] }, { "annotation": "ATP8B1: A prognostic prostate cancer biomarker identified via genetic analysis.", "evidence": [ { "database": "RefSeq", "id": "NP_005594", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005594" }, { "database": "PubMed", "id": "36794287", "url": "https://glygen.org/publication/PubMed/36794287" } ] }, { "annotation": "Activation and substrate specificity of the human P4-ATPase ATP8B1. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005594", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005594" }, { "database": "PubMed", "id": "37980352", "url": "https://glygen.org/publication/PubMed/37980352" } ] }, { "annotation": "Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of phospholipids, in particular phosphatidylcholines (PC), from the outer to the inner leaflet of the plasma membrane (PubMed:25315773, PubMed:17948906). May participate in the establishment of the canalicular membrane integrity by ensuring asymmetric distribution of phospholipids in the canicular membrane (By similarity). Thus may have a role in the regulation of bile acids transport into the canaliculus, uptake of bile acids from intestinal contents into intestinal mucosa or both and protect hepatocytes from bile salts (By similarity). Involved in the microvillus formation in polarized epithelial cells; the function seems to be independent from its flippase activity (PubMed:20512993). Participates in correct apical membrane localization of CDC42, CFTR and SLC10A2 (PubMed:25239307, PubMed:27301931). Enables CDC42 clustering at the apical membrane during enterocyte polarization through the interaction between CDC42 polybasic region and negatively charged membrane lipids provided by ATP8B1 (By similarity). Together with TMEM30A is involved in uptake of the synthetic drug alkylphospholipid perifosine (PubMed:20510206). Required for the preservation of cochlear hair cells in the inner ear (By similarity). May act as cardiolipin transporter during inflammatory injury (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520#function" }, { "database": "PubMed", "id": "20512993", "url": "https://glygen.org/publication/PubMed/20512993" }, { "database": "PubMed", "id": "17948906", "url": "https://glygen.org/publication/PubMed/17948906" }, { "database": "UniProtKB", "id": "Q148W0", "url": "https://www.uniprot.org/uniprot/Q148W0#function" }, { "database": "PubMed", "id": "20510206", "url": "https://glygen.org/publication/PubMed/20510206" }, { "database": "PubMed", "id": "25239307", "url": "https://glygen.org/publication/PubMed/25239307" }, { "database": "PubMed", "id": "27301931", "url": "https://glygen.org/publication/PubMed/27301931" } ] }, { "annotation": "Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.", "evidence": [ { "database": "RefSeq", "id": "NP_005594", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005594" }, { "database": "PubMed", "id": "35894240", "url": "https://glygen.org/publication/PubMed/35894240" } ] }, { "annotation": "This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_005594", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005594" } ] } ], "disease": [ { "disease_id": "DOID:0070221", "recommended_name": { "id": "DOID:0070221", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070221", "name": "progressive familial intrahepatic cholestasis", "description": "An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood." }, "synonyms": [ { "id": "DOID:0070221", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070221", "name": "PFIC; Byler disease", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "progressive familial intrahepatic cholestasis type 1", "description": "PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "Byler disease", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "FIC1 deficiency", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "PFIC1", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "cholestasis, progressive familial intrahepatic 1", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "cholestasis, progressive familial intrahepatic, type 1", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "Byler's disease", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "cholestasis, fatal intrahepatic", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "cholestasis, progressive familial intrahepatic, 1", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "progressive familial intrahepatic cholestasis", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "severe ATP8B1 deficiency", "description": "" }, { "id": "MIM:211600", "resource": "MIM", "url": "https://www.omim.org/entry/211600", "name": "Cholestasis, progressive familial intrahepatic, 1", "description": "Cholestasis, progressive familial intrahepatic, 1" } ], "evidence": [ { "id": "211600", "database": "MIM", "url": "https://www.omim.org/entry/211600" } ] }, { "disease_id": "DOID:0070226", "recommended_name": { "id": "DOID:0070226", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070226", "name": "progressive familial intrahepatic cholestasis 1", "description": "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21." }, "synonyms": [ { "id": "DOID:0070226", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070226", "name": "FIC1 deficiency", "description": "" }, { "id": "DOID:0070226", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070226", "name": "PFIC1", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "progressive familial intrahepatic cholestasis type 1", "description": "PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "Byler disease", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "FIC1 deficiency", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "PFIC1", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "cholestasis, progressive familial intrahepatic 1", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "cholestasis, progressive familial intrahepatic, type 1", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "Byler's disease", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "cholestasis, fatal intrahepatic", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "cholestasis, progressive familial intrahepatic, 1", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "progressive familial intrahepatic cholestasis", "description": "" }, { "id": "MONDO:0008892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008892", "name": "severe ATP8B1 deficiency", "description": "" }, { "id": "MIM:211600", "resource": "MIM", "url": "https://www.omim.org/entry/211600", "name": "Cholestasis, progressive familial intrahepatic, 1", "description": "Cholestasis, progressive familial intrahepatic, 1" } ], "evidence": [ { "id": "211600", "database": "MIM", "url": "https://www.omim.org/entry/211600" } ] }, { "disease_id": "DOID:0070228", "recommended_name": { "id": "DOID:0070228", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070228", "name": "intrahepatic cholestasis of pregnancy 1", "description": "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21." }, "synonyms": [ { "id": "DOID:0070228", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070228", "name": "ICP1", "description": "" }, { "id": "DOID:0070228", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070228", "name": "pregnancy related cholestasis 1", "description": "" }, { "id": "MONDO:0007829", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007829", "name": "cholestasis, intrahepatic, of pregnancy, 1", "description": "" }, { "id": "MONDO:0007829", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007829", "name": "cholestasis, intrahepatic, of pregnancy, 1", "description": "" }, { "id": "MONDO:0007829", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007829", "name": "cholestasis, intrahepatic, of pregnancy, type 1", "description": "" }, { "id": "MONDO:0007829", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007829", "name": "ICP1", "description": "" }, { "id": "MONDO:0007829", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007829", "name": "cholestasis, pregnancy-related, 1", "description": "" }, { "id": "MIM:147480", "resource": "MIM", "url": "https://www.omim.org/entry/147480", "name": "Cholestasis of pregnancy, intrahepatic 1", "description": "Cholestasis of pregnancy, intrahepatic 1" } ], "evidence": [ { "id": "147480", "database": "MIM", "url": "https://www.omim.org/entry/147480" } ] }, { "disease_id": "DOID:0070230", "recommended_name": { "id": "DOID:0070230", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070230", "name": "benign recurrent intrahepatic cholestasis", "description": "An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction." }, "synonyms": [ { "id": "DOID:0070230", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070230", "name": "BRIC", "description": "" }, { "id": "DOID:0070230", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070230", "name": "Summerskill-Walshe-Tygstrup syndrome", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "benign recurrent intrahepatic cholestasis type 1", "description": "Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity." }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "cholestasis, benign recurrent intrahepatic", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "ATP8B1 benign recurrent intrahepatic cholestasis", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "BRIC1", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "Bric type 1", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "cholestasis, benign recurrent intrahepatic, type 1", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "Summerskill syndrome", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "benign recurrent intrahepatic cholestasis 1", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "cholestasis, benign recurrent intrahepatic 1", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "cholestasis, benign recurrent intrahepatic, 1", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "mild ATP8B1 deficiency", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "recurrent familial intrahepatic cholestasis 1", "description": "" }, { "id": "MIM:243300", "resource": "MIM", "url": "https://www.omim.org/entry/243300", "name": "Cholestasis, benign recurrent intrahepatic, 1", "description": "Cholestasis, benign recurrent intrahepatic, 1" } ], "evidence": [ { "id": "243300", "database": "MIM", "url": "https://www.omim.org/entry/243300" } ] }, { "disease_id": "DOID:0070231", "recommended_name": { "id": "DOID:0070231", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070231", "name": "benign recurrent intrahepatic cholestasis 1", "description": "A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q." }, "synonyms": [ { "id": "DOID:0070231", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070231", "name": "BRIC type 1", "description": "" }, { "id": "DOID:0070231", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070231", "name": "BRIC1", "description": "" }, { "id": "DOID:0070231", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070231", "name": "Summerskill syndrome", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "benign recurrent intrahepatic cholestasis type 1", "description": "Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity." }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "cholestasis, benign recurrent intrahepatic", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "ATP8B1 benign recurrent intrahepatic cholestasis", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "BRIC1", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "Bric type 1", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "cholestasis, benign recurrent intrahepatic, type 1", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "Summerskill syndrome", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "benign recurrent intrahepatic cholestasis 1", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "cholestasis, benign recurrent intrahepatic 1", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "cholestasis, benign recurrent intrahepatic, 1", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "mild ATP8B1 deficiency", "description": "" }, { "id": "MONDO:0009469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009469", "name": "recurrent familial intrahepatic cholestasis 1", "description": "" }, { "id": "MIM:243300", "resource": "MIM", "url": "https://www.omim.org/entry/243300", "name": "Cholestasis, benign recurrent intrahepatic, 1", "description": "Cholestasis, benign recurrent intrahepatic, 1" } ], "evidence": [ { "id": "243300", "database": "MIM", "url": "https://www.omim.org/entry/243300" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 234, "end_pos": 234, "sequence_org": "E", "sequence_mut": "Q", "comment": "Impaired PC flippase activity.", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" }, { "database": "PubMed", "id": "25315773", "url": "https://glygen.org/publication/PubMed/25315773" } ] }, { "start_pos": 454, 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"BioXpress", "id": "O43520", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43520" } ], "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": 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"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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43520" } ], "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": [ { 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"length": 1251, "header": "sp|O43520-1|AT8B1_HUMAN Isoform 1 of Phospholipid-transporting ATPase IC OS=Homo sapiens OX=9606 GN=ATP8B1 PE=1 SV=3 CANONICAL=O43520-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y5C5-1", "url": "", "sequence": { "sequence": 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"tr|A0A2R8Y5C5-1|A0A2R8Y5C5_HUMAN Computationally mapped isoform of Phospholipid-transporting ATPase OS=Homo sapiens OX=9606 GN=ATP8B1 PE=1 SV=1 CANONICAL=O43520-1" }, "locus": { "chromosome": "18", "start_pos": 57731807, "end_pos": 57655360, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642462.1", "url": "https://www.ensembl.org/id/ENST00000642462.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494712.1", "url": "https://www.ensembl.org/id/ENSP00000494712.1" } ] } }, { "isoform_ac": "A0A3B3IRQ1-1", "url": "", "sequence": { "sequence": "XDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHEQPHFMNTKFLCIKESKYAAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEVIKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCYVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNNRLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAGADTKIMKNSGKTRFKRTKIDYLMNYMVYTIFVVLILLSAGLAIGHAYWEAQVGNSSWYLYDGEDDTPSYRGFLIFWGYIIVLNTMVPISLYVSVEVIRLGQSHFINWDLQMYYAEKDTPAKARTTTLNEQLGQIHYIFSDKTGTLTQNIMTFKKCCINGQIYGDHRDASQHNHNKIEQVDFSWNTYADGKLAFYDHYLIEQIQSGKEPEVRQFFFLLAVCHTVMVDRTDAFLGFLSLPC", "length": 498, "header": "tr|A0A3B3IRQ1-1|A0A3B3IRQ1_HUMAN Computationally mapped isoform of Phospholipid-transporting ATPase OS=Homo sapiens OX=9606 GN=ATP8B1 PE=1 SV=1 CANONICAL=O43520-1" }, "locus": { "chromosome": "18", "start_pos": 57731754, "end_pos": 57675024, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000648467.1", "url": "https://www.ensembl.org/id/ENST00000648467.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496933.1", "url": "https://www.ensembl.org/id/ENSP00000496933.1" } ] } }, { "isoform_ac": "K7EQC4-1", "url": "", "sequence": { "sequence": "MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKE", "length": 61, "header": "tr|K7EQC4-1|K7EQC4_HUMAN Computationally mapped isoform of ATPase phospholipid transporting 8B1 OS=Homo sapiens OX=9606 GN=ATP8B1 PE=1 SV=1 CANONICAL=O43520-1" }, "locus": { "chromosome": "18", "start_pos": 57731807, "end_pos": 57704667, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000591728.1", "url": "https://www.ensembl.org/id/ENST00000591728.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000467767.1", "url": "https://www.ensembl.org/id/ENSP00000467767.1" } ] } }, { "isoform_ac": "K7ESK2-1", "url": "", "sequence": { "sequence": "MSTERDSETTF", "length": 11, "header": "tr|K7ESK2-1|K7ESK2_HUMAN Computationally mapped isoform of ATPase phospholipid transporting 8B1 OS=Homo sapiens OX=9606 GN=ATP8B1 PE=4 SV=1 CANONICAL=O43520-1" }, "locus": { "chromosome": "18", "start_pos": 57731807, "end_pos": 57731775, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000585322.2", "url": "https://www.ensembl.org/id/ENST00000585322.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000468751.1", "url": "https://www.ensembl.org/id/ENSP00000468751.1" } ] } }, { "isoform_ac": "O43520-1", "url": "", "sequence": { "sequence": "MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHEQPHFMNTKFLCIKESKYANNAIKTYKYNAFTFIPMNLFEQFKRAANLYFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEVIKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCYVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNNRLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAGADTKIMKNSGKTRFKRTKIDYLMNYMVYTIFVVLILLSAGLAIGHAYWEAQVGNSSWYLYDGEDDTPSYRGFLIFWGYIIVLNTMVPISLYVSVEVIRLGQSHFINWDLQMYYAEKDTPAKARTTTLNEQLGQIHYIFSDKTGTLTQNIMTFKKCCINGQIYGDHRDASQHNHNKIEQVDFSWNTYADGKLAFYDHYLIEQIQSGKEPEVRQFFFLLAVCHTVMVDRTDGQLNYQAASPDEGALVNAARNFGFAFLARTQNTITISELGTERTYNVLAILDFNSDRKRMSIIVRTPEGNIKLYCKGADTVIYERLHRMNPTKQETQDALDIFANETLRTLCLCYKEIEEKEFTEWNKKFMAASVASTNRDEALDKVYEEIEKDLILLGATAIEDKLQDGVPETISKLAKADIKIWVLTGDKKETAENIGFACELLTEDTTICYGEDINSLLHARMENQRNRGGVYAKFAPPVQESFFPPGGNRALIITGSWLNEILLEKKTKRNKILKLKFPRTEEERRMRTQSKRRLEAKKEQRQKNFVDLACECSAVICCRVTPKQKAMVVDLVKRYKKAITLAIGDGANDVNMIKTAHIGVGISGQEGMQAVMSSDYSFAQFRYLQRLLLVHGRWSYIRMCKFLRYFFYKNFAFTLVHFWYSFFNGYSAQTAYEDWFITLYNVLYTSLPVLLMGLLDQDVSDKLSLRFPGLYIVGQRDLLFNYKRFFVSLLHGVLTSMILFFIPLGAYLQTVGQDGEAPSDYQSFAVTIASALVITVNFQIGLDTSYWTFVNAFSIFGSIALYFGIMFDFHSAGIHVLFPSAFQFTGTASNALRQPYIWLTIILAVAVCLLPVVAIRFLSMTIWPSESDKIQKHRKRLKAEEQWQRRQQVFRRGVSTRRSAYAFSHQRGYADLISSGRSIRKKRSPLDAIVADGTAEYRRTGDS", "length": 1251, "header": "sp|O43520-1|AT8B1_HUMAN Isoform 1 of Phospholipid-transporting ATPase IC OS=Homo sapiens OX=9606 GN=ATP8B1 PE=1 SV=3 CANONICAL=O43520-1" }, "locus": { "chromosome": "18", "start_pos": 57731807, "end_pos": 57648491, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000648908.2", "url": "https://www.ensembl.org/id/ENST00000648908.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000497896.1", "url": "https://www.ensembl.org/id/ENSP00000497896.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 1223, "end_pos": 1223, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "site_lbl": "Ser1223" }, { "start_pos": 838, "end_pos": 838, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43520", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43520" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser838" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease.", "journal": "Human molecular genetics", "date": "1999", "authors": "Ambrosini L, Mercer JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "10401004", "url": "https://glygen.org/publication/PubMed/10401004" } ] }, { "title": "The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal.", "journal": "Human molecular genetics", "date": "1999", "authors": "Petris MJ, Mercer JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "10484781", "url": "https://glygen.org/publication/PubMed/10484781" } ] }, { "title": "Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.", "journal": "Nature genetics", "date": "2000", "authors": "Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "10615129", "url": "https://glygen.org/publication/PubMed/10615129" } ] }, { "title": "Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.", "journal": "Human molecular genetics", "date": "2000", "authors": "Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, Healy E, Dissanayake M, Larregue M, Perrussel M, Lehrach H, Munro CS, Strachan T, Burge S, Hovnanian A, Monaco AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "10767338", "url": "https://glygen.org/publication/PubMed/10767338" } ] }, { "title": "A missense mutation in FIC1 is associated with greenland familial cholestasis.", "journal": "Hepatology (Baltimore, Md.)", "date": "2000", "authors": "Klomp LW, Bull LN, Knisely AS, van Der Doelen MA, Juijn JA, Berger R, Forget S, Nielsen IM, Eiberg H, Houwen RH", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "reference": [ { "type": "PubMed", "id": "11093741", "url": "https://glygen.org/publication/PubMed/11093741" } ] }, { "title": "Characterization of mutations in ATP8B1 associated with hereditary cholestasis.", "journal": "Hepatology (Baltimore, Md.)", "date": "2004", "authors": "Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, Juijn JA, Pabon-Pena C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der Brugge G, Berger R, Jankowska I, Pawlowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RH, Bull LN", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "reference": [ { "type": "PubMed", "id": "15239083", "url": "https://glygen.org/publication/PubMed/15239083" } ] }, { "title": "Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy.", "journal": "European journal of human genetics : EJHG", "date": "2005", "authors": "Painter JN, Savander M, Ropponen A, Nupponen N, Riikonen S, Ylikorkala O, Lehesjoki AE, Aittomaki K", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "reference": [ { "type": "PubMed", "id": "15657619", "url": "https://glygen.org/publication/PubMed/15657619" } ] }, { "title": "The secretory pathway Ca2+/Mn2+-ATPase 2 is a Golgi-localized pump with high affinity for Ca2+ ions.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Vanoevelen J, Dode L, Van Baelen K, Fairclough RJ, Missiaen L, Raeymaekers L, Wuytack F", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "15831496", "url": "https://glygen.org/publication/PubMed/15831496" } ] }, { "title": "ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.", "journal": "Gut", "date": "2005", "authors": "Mullenbach R, Bennett A, Tetlow N, Patel N, Hamilton G, Cheng F, Chambers J, Howard R, Taylor-Robinson SD, Williamson C", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "reference": [ { "type": "PubMed", "id": "15888793", "url": "https://glygen.org/publication/PubMed/15888793" } ] }, { "title": "The type 4 subfamily of P-type ATPases, putative aminophospholipid translocases with a role in human disease.", "journal": "Biochimica et biophysica acta", "date": "2005", "authors": "Paulusma CC, Oude Elferink RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "15919184", "url": "https://glygen.org/publication/PubMed/15919184" } ] }, { "title": "Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.", "journal": "Genomics", "date": "2005", "authors": "Kwasnicka-Crawford DA, Carson AR, Roberts W, Summers AM, Rehnstrom K, Jarvela I, Scherer SW", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "15925480", "url": "https://glygen.org/publication/PubMed/15925480" } ] }, { "title": "Identification and characterization of a novel Cut family cDNA that encodes human copper transporter protein CutC.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Li J, Ji C, Chen J, Yang Z, Wang Y, Fei X, Zheng M, Gu X, Wen G, Xie Y, Mao Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "16182249", "url": "https://glygen.org/publication/PubMed/16182249" } ] }, { "title": "cDNA cloning of the beta-subunit of the human gastric H,K-ATPase.", "journal": "Biochemical and biophysical research communications", "date": "1991", "authors": "Ma JY, Song YH, Sjostrand SE, Rask L, Mardh S", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "1656976", "url": "https://glygen.org/publication/PubMed/1656976" } ] }, { "title": "Review article: the clinical pharmacology of proton pump inhibitors.", "journal": "Alimentary pharmacology & therapeutics", "date": "2006", "authors": "Sachs G, Shin JM, Howden CW", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "16700898", "url": "https://glygen.org/publication/PubMed/16700898" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity.", "journal": "Hepatology (Baltimore, Md.)", "date": "2008", "authors": "Paulusma CC, Folmer DE, Ho-Mok KS, de Waart DR, Hilarius PM, Verhoeven AJ, Oude Elferink RP", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "reference": [ { "type": "PubMed", "id": "17948906", "url": "https://glygen.org/publication/PubMed/17948906" } ] }, { "title": "Knock down of Caenorhabditis elegans cutc-1 exacerbates the sensitivity toward high levels of copper.", "journal": "Toxicological sciences : an official journal of the Society of Toxicology", "date": "2008", "authors": "Calafato S, Swain S, Hughes S, Kille P, Sturzenbaum SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "18723824", "url": "https://glygen.org/publication/PubMed/18723824" } ] }, { "title": "Cd2+, Mn2+, Ni2+ and Se2+ toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2.", "journal": "Biochemical and biophysical research communications", "date": "2009", "authors": "Schmidt K, Wolfe DM, Stiller B, Pearce DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "19345671", "url": "https://glygen.org/publication/PubMed/19345671" } ] }, { "title": "Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.", "journal": "Hepatology (Baltimore, Md.)", "date": "2009", "authors": "Folmer DE, van der Mark VA, Ho-Mok KS, Oude Elferink RP, Paulusma CC", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "reference": [ { "type": "PubMed", "id": "19731236", "url": "https://glygen.org/publication/PubMed/19731236" } ] }, { "title": "Crystal structure of human copper homeostasis protein CutC reveals a potential copper-binding site.", "journal": "Journal of structural biology", "date": "2010", "authors": "Li Y, Du J, Zhang P, Ding J", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "19878721", "url": "https://glygen.org/publication/PubMed/19878721" } ] }, { "title": "Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.", "journal": "Journal 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"O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "phosphatidylcholine floppase activity", "id": "GO:0090554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090554", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "phosphatidylserine floppase activity", "id": "GO:0090556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090556", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "cardiolipin binding", "id": "GO:1901612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901612", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "phosphatidylcholine flippase activity", "id": "GO:0140345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140345", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "phosphatidylserine flippase activity", "id": "GO:0140346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140346", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 11, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "stereocilium", "id": "GO:0032420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032420", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "phospholipid-translocating ATPase complex", "id": "GO:1990531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990531", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 15, "go_terms": [ { "name": "phospholipid transport", "id": "GO:0015914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015914", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "bile acid and bile salt transport", "id": "GO:0015721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015721", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "phospholipid translocation", "id": "GO:0045332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045332", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "xenobiotic transmembrane transport", "id": "GO:0006855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006855", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "bile acid metabolic process", "id": "GO:0008206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008206", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "inner ear receptor cell development", "id": "GO:0060119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060119", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "vestibulocochlear nerve formation", "id": "GO:0021650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021650", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "regulation of microvillus assembly", "id": "GO:0032534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032534", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "regulation of chloride transport", "id": "GO:2001225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001225", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "apical protein localization", "id": "GO:0045176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045176", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" }, { "name": "regulation of plasma membrane organization", "id": "GO:1903729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903729", "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprot/O43520" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 175, "end_pos": 177, "annotation": "n_glycosylation_sequon" }, { "start_pos": 283, "end_pos": 285, "annotation": "n_glycosylation_sequon" }, { "start_pos": 368, "end_pos": 370, "annotation": "n_glycosylation_sequon" }, { "start_pos": 648, "end_pos": 650, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "38567", "name": "", "equation": "a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) + ADP + H(+) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D4AA47-1", "O95477-1", "Q8IZY2-1", "Q9Y2G3-1", "Q8NB49-1", "P98196-1", "Q9NTI2-4", "Q9Y2Q0-1", "O43520-1", "O60423-2", "P41233-1", "P98197-1", "Q9QZW0-1", "Q6DFW5-1", "Q148W0-1", "P70704-1", "P98200-1", "Q6UQ17-1", "P39524-1", "P32660-1", "P40527-1", "Q12675-1" ], "evidence": [ { "id": "38567", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/38567" } ] }, { "id": "38583", "name": "", "equation": "a 1,2-diacyl-sn-glycero-3-phosphocholine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phosphocholine(in) + ADP + H(+) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P43245-1", "D4AA47-1", "O95477-1", "Q8IZY2-1", "P08183-1", "O43520-1", "P98198-1", "O60312-1", "P41233-1", "P06795-1", "P21447-1", "O54827-1", "P98199-1", "Q148W0-1", "P32660-1", "Q12675-1", "Q12674-1" ], "evidence": [ { "id": "38583", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/38583" } ] }, { "id": "R-HSA-939763", "name": "P-type ATPases type IV transport external-facing APLs to internal side of the plasma membrane", "equation": "", "summary": "The plasma membrane contains a broad range of lipids making up the bilayer. Aminophospholipids such as phosphatidylserine (PS) and phosphatidylethanolamine (PE) are distributed in this bilayer and their arrangement is mediated by the P-type ATPases type IV family (Paulusma and Oude Elferink, 2005).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60312-1", "O60423-2", "Q8TF62-1", "P98196-1", "Q8NB49-1", "Q9NTI2-4", "Q9Y2Q0-1", "O43861-1", "O75110-1", "O94823-1", "Q9P241-1", "Q9Y2G3-1", "O43520-1", "P98198-1" ], "evidence": [ { "id": "R-HSA-939763", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-939763" } ] }, { "id": "R-HSA-947591", "name": "P-type ATPases type IV transport internal-facing APLs to external side of the plasma membrane", "equation": "", "summary": "The plasma membrane contains a broad range of lipids making up the bilayer. Aminophospholipids (APLs) such as phosphatidylserine (PS) and phosphatidylethanolamine (PE) are distributed in this bilayer and their arrangement is mediated by the P-type ATPases type IV family (Paulusma and Oude Elferink, 2005).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60312-1", "O60423-2", "Q8TF62-1", "P98196-1", "Q8NB49-1", "Q9NTI2-4", "Q9Y2Q0-1", "O43861-1", "O75110-1", "O94823-1", "Q9P241-1", "Q9Y2G3-1", "O43520-1", "P98198-1" ], "evidence": [ { "id": "R-HSA-947591", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-947591" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "D4AA47", "gene_name": "Atp8b1", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "D4AA47", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4AA47" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "D4AA47", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4AA47" } ] } ] }, { "uniprot_ac": "O43520", "gene_name": "ATP8B1", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "O43520", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43520" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "O43520", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43520" } ] } ] }, { "uniprot_ac": "O43861", "gene_name": "ATP9B", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "O43861", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43861" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "O43861", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43861" } ] } ] }, { "uniprot_ac": "O54827", "gene_name": "Atp10a", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "O54827", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54827" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "O54827", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54827" } ] } ] }, { "uniprot_ac": "O60312", "gene_name": "ATP10A", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "O60312", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60312" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "O60312", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60312" } ] } ] }, { "uniprot_ac": "O60423", "gene_name": "ATP8B3", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "O60423", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60423" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "O60423", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60423" } ] } ] }, { "uniprot_ac": "O75110", "gene_name": "ATP9A", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "O75110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75110" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "O75110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75110" } ] } ] }, { "uniprot_ac": "O94823", "gene_name": "ATP10B", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + 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