ATP8B1 - ATPase phospholipid transporting 8B1 Gene

Also Known as BRIC; FIC1; ICP1; PFIC; ATPIC; PFIC1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5205

About ATP8B1

Cytogenetic location: 18q21.31 Genomic coordinates (GRCh38): 18:57,646,426-57,803,315 (from NCBI)

This gene has 8 transcripts (splice variants), 215 orthologues, 13 paralogues and is associated with 7 phenotypes. Broad expression in colon (RPKM 52.5), stomach (RPKM 26.5) and 17 other tissues.

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]

ATP8B1 Products (3)

mRNA	Protein	Name
NM_001374385.1	NP_001361314.1	phospholipid-transporting ATPase IC isoform 1
NM_001374386.1	NP_001361315.1	phospholipid-transporting ATPase IC isoform 2
NM_005603.6	NP_005594.2	phospholipid-transporting ATPase IC isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables phosphatidylcholine flippase activity	IDA IDA: Inferred from direct assay	25315773	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19731236	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in apical protein localization	IMP IMP: Inferred from mutant phenotype	27301931	GOA
involved in negative regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	16628629	GOA
involved in phospholipid translocation	IDA IDA: Inferred from direct assay	20510206	GOA
involved in regulation of chloride transport	IMP IMP: Inferred from mutant phenotype	27301931	GOA
involved in regulation of microvillus assembly	IMP IMP: Inferred from mutant phenotype	20512993	GOA
involved in xenobiotic transmembrane transport	IDA IDA: Inferred from direct assay	20510206	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	20947505	GOA
located in apical plasma membrane	IDA IDA: Inferred from direct assay	11682026	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	21914794	GOA
part of phospholipid-translocating ATPase complex	IDA IDA: Inferred from direct assay	25239307	GOA
part of phospholipid-translocating ATPase complex	IPI IPI: Inferred from physical interaction	20961850	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	20947505	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP8B1 Protein Structure

E1-E2_ATPase

HAD

0
200
400
600
800
1000
1251 a.a.

Protein Preferred Names	Protein Names
phospholipid-transporting ATPase IC	ATPase, aminophospholipid transporter, class I, type 8B, member 1

ATP8B1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ATP8B1	O43520	TMEM30A	Homo sapiens	Q9NV96	Crosslink	25947375
Intra	ATP8B1	O43520	TMEM30A	Homo sapiens	Q9NV96	Pull Down	20961850
Intra	ATP8B1	O43520	TMEM30A	Homo sapiens	Q9NV96	Anti Tag CoIP	25947375
Intra	ATP8B1	O43520	TMEM30A	Homo sapiens	Q9NV96	Confocal	20947505
Intra	ATP8B1	O43520	TMEM30A	Homo sapiens	Q9NV96	Anti Tag CoIP	21914794
Intra	ATP8B1	O43520	TMEM30A	Homo sapiens	Q9NV96	Confocal	20961850
Intra	ATP8B1	O43520	TMEM30A	Homo sapiens	Q9NV96	Anti Tag CoIP	20961850
Intra	ATP8B1	O43520	TMEM30B	Homo sapiens	Q3MIR4	Anti Tag CoIP	20961850
Intra	ATP8B1	O43520	TMEM30B	Homo sapiens	Q3MIR4	Confocal	20961850

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cholestasis, Progressive Familial Intrahepatic, 1	PFIC1 Byler Disease Cholestasis, Progressive Familial Intrahepatic 1 Progressive Familial Intrahepatic Cholestasis 1 Progressive Familial Intrahepatic Cholestasis Type 1 Fic1 Deficiency Byler'S Disease Cholestasis, Fatal Intrahepatic Progressive Familial Intrahepatic Cholestasis Severe Atp8b1 Deficiency Fatal Intrahepatic Cholestasis Cholestasis, Intrahepatic, Familial, Progressive, Type 1 Progressive Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic 3
Cholestasis, Benign Recurrent Intrahepatic, 1	Benign Recurrent Intrahepatic Cholestasis BRIC1 Summerskill Syndrome Bric Summerskill-Walshe-Tygstrup Syndrome Cholestasis, Benign Recurrent Intrahepatic Benign Recurrent Intrahepatic Cholestasis 1 Benign Recurrent Intrahepatic Cholestasis Type 1 Bric Type 1 Low Gamma-Gt Familial Intrahepatic Cholestasis Recurrent Familial Intrahepatic Cholestasis Cholestasis, Benign Recurrent Intrahepatic 1 Mild Atp8b1 Deficiency Recurrent Familial Intrahepatic Cholestasis 1 Abcb11-Related Intrahepatic Cholestasis Atp8b1-Related Intrahepatic Cholestasis Cholestasis, Intrahepatic, Recurrent, Benign, Type 1 Progressive Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic 3 Bric - [Benign Recurrent Intrahepatic Cholestasis]
Cholestasis, Intrahepatic, Of Pregnancy, 1	ICP1 Intrahepatic Cholestasis Of Pregnancy 1 Cholestasis, Pregnancy-Related, 1 Pregnancy Related Cholestasis 1 Cholestasis Of Pregnancy, Intrahepatic 1 Obstetric Cholestasis Pregnancy-Related Cholestasis Recurrent Intrahepatic Cholestasis Of Pregnancy Cholestasis, Intrahepatic, Of Pregnancy, Type 1 Cholestasis Of Pregnancy
Progressive Familial Intrahepatic Cholestasis	Abcb4-Related Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic Pfic Byler Disease Abcb11-Related Intrahepatic Cholestasis Atp8b1-Related Intrahepatic Cholestasis Bsep Deficiency Byler Disease Byler Syndrome Fic1 Deficiency Low Γ-Gt Familial Intrahepatic Cholestasis Mdr3 Deficiency Pfic Cholestasis, Intrahepatic, Familial, Progressive Pfic - [Progressive Familial Intrahepatic Cholestasis]
Cholestasis	Obstruction Of Bile Duct Bile Duct Obstruction Bile Occlusion Extrahepatic Biliary Obstruction Extrahepatic Bile Duct Obstruction Bile Stasis Biliary Stasis Obstructive Hyperbilirubinemia Obstructed Jaundice Bile Duct Obstructed Bile Ductal Obstruction Biliary Duct Obstruction Obstructed Bile Ductal Obstructed Biliary Duct Obstructed Biliary Ductal Jaundice Regurgitation Obstructive Jaundice Cholestatic Jaundice Cholestatic Jaundice Syndrome
Intrahepatic Cholestasis	Cholestasis, Intrahepatic Neonatal Intrahepatic Cholestasis Cholestasis Intrahepatic Cholestasis Of Pregnancy
Familial Intrahepatic Cholestasis
Intrahepatic Cholestasis Of Pregnancy	Recurrent Intrahepatic Cholestasis Of Pregnancy Gravidic Intrahepatic Cholestasis Pregnancy-Related Cholestasis Icp Pregnancy Related Cholestasis Cholestasis, Intrahepatic Of Pregnancy Familial Intrahepatic Cholestasis Of Pregnancy Familial Recurrent Intrahepatic Cholestasis Of Pregnancy Ricp Obstetric Cholestasis
Cholestasis, Progressive Familial Intrahepatic, 2	PFIC2 Cholestasis, Progressive Familial Intrahepatic 2 Progressive Familial Intrahepatic Cholestasis Type 2 Progressive Familial Intrahepatic Cholestasis 2 Bsep Deficiency Recurrent Familial Intrahepatic Cholestasis 2 Benign Recurrent Intrahepatic Cholestasis 2 Severe Abcb11 Deficiency Bric2 Cholestasis, Benign Recurrent Intrahepatic 2 Mild Abcb11 Deficiency Cholestasis, Intrahepatic, Familial, Progressive, Type 2
Cholestasis, Progressive Familial Intrahepatic, 3	PFIC3 Cholestasis, Progressive Familial Intrahepatic 3 Mdr3 Deficiency Progressive Familial Intrahepatic Cholestasis Type 3 Progressive Familial Intrahepatic Cholestasis 3 Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gamma-Glutamyltransferase Cholestasis, Progressive Familial Intrahepatic, With Elevated Serum Gamma-Glutamyltransferase Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gama-Glutamyltransferase Cholestasis, Intrahepatic, Familial, Progressive, Type 3
Atp8b1 Deficiency	Fic1 Deficiency Progressive Intrahepatic Cholestasis
Alagille Syndrome 1	Alagille Syndrome Arteriohepatic Dysplasia Alagille-Watson Syndrome Cholestasis With Peripheral Pulmonary Stenosis Hepatic Ductular Hypoplasia Alagille Syndrome Due To A Jag1 Point Mutation ALGS1 Algs Aws Syndromic Bile Duct Paucity Cardiovertebral Syndrome Hepatofacioneurocardiovertebral Syndrome Paucity Of Interlobular Bile Ducts Watson-Miller Syndrome Alagille Syndrome Due To 20p12 Microdeletion Ahd Hepatic Ductular Hypoplasia, Syndromatic Watson Alagille Syndrome Alagille'S Syndrome Alagille Syndrome Due To Del(20)(P12) Alagille Syndrome Due To Monosomy 20p12 Alagille-Watson Syndrome Due To Monosomy 20p12 Arteriohepatic Dysplasia Due To Monosomy 20p12 Syndromic Bile Duct Paucity Due To Monosomy 20p12 Alagille-Watson Syndrome Due To A Jag1 Point Mutation Arteriohepatic Dysplasia Due To A Jag1 Point Mutation Syndromic Bile Duct Paucity Due To A Jag1 Point Mutation Alagille Syndrome, Type 1
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Cholestasis, Progressive Familial Intrahepatic, 4	PFIC4 Progressive Familial Intrahepatic Cholestasis 4 Cholestasis, Progressive Familial Intrahepatic 4 Tjp2 Deficit Progressive Familial Intrahepatic Cholestasis-4 3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency Progressive Familial Intrahepatic Cholestasis Type 4 Cholestasis, Intrahepatic, Familial, Progressive, Type 4 Bile Acid Synthesis Defect, Congenital, 1
Cholestasis, Benign Recurrent Intrahepatic, 2	BRIC2 Benign Recurrent Intrahepatic Cholestasis 2 Benign Recurrent Intrahepatic Cholestasis Type 2 Bric Type 2 Cholestasis, Intrahepatic, Recurrent, Benign, Type 2 Cholestasis, Benign Recurrent Intrahepatic 2
Cholestasis, Progressive Familial Intrahepatic, 5	PFIC5 Progressive Familial Intrahepatic Cholestasis 5 Nr1h4 Deficiency Progressive Familial Intrahepatic Cholestasis Type 5 Cholestasis, Intrahepatic, Familial, Progressive, Type 5
Cholestasis, Intrahepatic, Of Pregnancy 3	ICP3 Cholestasis, Intrahepatic, Of Pregnancy, 3 Intrahepatic Cholestasis Of Pregnancy 3 Pregnancy Related Cholestasis 3 Cholestasis Of Pregnancy, Intrahepatic 3 Cholestasis, Intrahepatic, Of Pregnancy, Type 3
Dubin-Johnson Syndrome	DJS Chronic Idiopathic Jaundice Jaundice, Chronic Idiopathic Hyperbilirubinemia, Dubin-Johnson Type Hyperbilirubinemia Ii Hyperbilirubinemia Type 2 Conjugated Hyperbilirubinemia Dubin-Sprinz Disease Sprinz-Nelson Syndrome Hblrdj Dubin Johnson Syndrome Hyperbilirubinemia 2 Black Liver-Jaundice Syndrome Chronic Idiopathic Jaundice With Pigmented Liver Dubin-Sprinz Syndrome Hyperbilirubinaemia Type 2 Djs - [Dubin-Johnson Syndrome]
Bile Duct Cysts	Choledochal Cyst Choledochal Cysts Choledochocele Biliary Cyst Congenital Choledochal Cyst Bile Duct Cyst Congenital Cystic Dilatation Of The Biliary Tract Congenital Bile Duct Dilatation
Bile Duct Disease	Bile Duct Diseases Bile Duct Disorder Disorder Of Bile Duct
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1	Dysequilibrium Syndrome CAMRQ1 Des Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1 Cerebellar Hypoplasia, Vldlr-Associated Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1 Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome Uner Tan Syndrome Vldlr Cerebellar Hypoplasia Vldlrch Vldlr-Associated Cerebellar Hypoplasia Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1 Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive Camrq Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1 Cerebellar Disorder, Nonprogressive, With Intellectual Disability Cerebellar Hypoplasia, Vldlr Associated Autosomal Recessive Cerebellar Ataxia With Mental Retardation Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification Cerebellar Disorder, Nonprogressive, With Mental Retardation Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion Chmrq1 Des-Vldlr Dysequilibrium Syndrome-Vldlr Vldlr-Ch Camrq Syndrome Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome Uts Cerebellar Hypoplasia Vldlr-Associated Dialysis Disequilibrium Syndrome
Biliary Tract Disease	Biliary Tract Diseases Biliary Tract Abnormality
Splenic Artery Aneurysm	Aneurysm Of Splenic Artery
Citrullinemia, Type Ii, Adult-Onset	Citrin Deficiency CTLN2 Citrullinemia Type Ii Adult-Onset Citrullinemia Type 2 Adult-Onset Type Ii Citrullinemia Citrullinemia, Adult-Onset Type Ii Adult-Onset Citrin Deficiency Adult-Onset Citrullinemia Type Ii Citrullinemia Type 2 Citrullinemia 2 Citrullinemia, Type Ii
Bilirubin Metabolic Disorder	Hyperbilirubinemia Hereditary Hyperbilirubinemia Hyperbilirubinemia, Hereditary Hyperbilirubinaemia
Citrullinemia, Classic	Citrullinemia Classic Citrullinemia Argininosuccinate Synthetase Deficiency Ass Deficiency Citrullinemia Type I CTLN1 Citrullinuria Citrullinemia, Type I Argininosuccinic Acid Synthetase Deficiency Ctnl1 Citrullinemia 1 Deficiency Of Citrulline-Aspartate Ligase Cit Argininosuccinate Synthase Deficiency Argininosuccinic Acid Synthase Deficiency Citrullinemia Type 1 Citrullinemia Classical
Urea Cycle Disorder	Urea Cycle Disorders Urea Cycle Disorders, Inborn Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Disorder Of Urea Cycle Metabolism Urea Cycle Defect Ucd Disorder Of The Urea Cycle Metabolism Disorder Of Urea Cycle Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Ammonia Metabolic Disorder
Sitosterolemia	Phytosterolemia Beta-Sitosterolemia Plant Sterol Storage Disease Phytosterolæmia Sitosterolæmia Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body Phytosterolaemia Sitosterolaemia Sitosterolemia With Xanthomatosis
Microvillus Inclusion Disease	Congenital Microvillous Atrophy Intractable Diarrhea Of Infancy Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities Davidson Disease Microvillous Inclusion Disease Congenital Microvillus Atrophy Mvid Diarrhea 2 With Microvillus Atrophy Mvd Congenital Familial Protracted Diarrhea Davidson'S Disease Familial Enteropathy, Microvillus Microvillus Atrophy, Congenital Congenital Enteropathy Familial Protracted Enteropathy Microvillous Atrophy Microvillus Atrophy With Diarrhea 2 Idi
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis
Cholangitis, Primary Sclerosing	Primary Sclerosing Cholangitis PSC Sclerosing Cholangitis Cholangitis, Sclerosing Cholangitis Primary Sclerosing Psc - [Primary Sclerosing Cholangitis]
Diamond-Blackfan Anemia 1	Aase Syndrome DBA1 Erythrogenesis Imperfecta Aase-Smith Syndrome Ii Dba Blackfan-Diamond Syndrome Bds Anemia, Congenital Hypoplastic, Of Blackfan And Diamond Anemia, Congenital Erythroid Hypoplastic Red Cell Aplasia, Pure, Hereditary Aregenerative Anemia, Chronic Congenital Rps19-Related Diamond-Blackfan Anemia Chronic Congenital Aregenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Pure Hereditary Red Cell Aplasia Anemia, Diamond-Blackfan, Type 1 Anemia, Diamond-Blackfan Aase Smith Syndrome 2 Familial Hypoplastic Anaemia With Malformations Constitutional Pure Red Cell Aplasia
Primary Biliary Cholangitis	Primary Biliary Cirrhosis Biliary Liver Cirrhosis Chronic Nonsuppurative Destructive Cholangitis Familial Primary Biliary Cirrhosis Pbc Hanot Syndrome Cholestatic Cirrhosis Biliary Cirrhosis Primary Liver Cirrhosis, Biliary Hanot'S Cirrhosis Biliary Cirrhosis Pericholangiolic Biliary Cirrhosis Tannhauser-Magendantz Syndrome Hanot-Rossle Syndrome Hypertrophic Cirrhosis Todd Cirrhosis Hanot Cirrhosis Charcot Cirrhosis Mahon-Tannhauser Syndrome Toxic Cirrhosis Hypertrophic Biliary Cirrhosis Monolobular Cirrhosis Unilobar Cirrhosis Xanthomatous Biliary Cirrhosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01239	ATP8B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ATP8B1	VGNC	VGNC:70163
Mus musculus	ATP8B1	MGD	MGI:1859665
Canis familiaris	ATP8B1	VGNC	VGNC:38288
Rattus norvegicus	ATP8B1	RGD	RGD:1308488
Bos taurus	ATP8B1	VGNC	VGNC:26330
Felis catus	ATP8B1	VGNC	VGNC:60028
Others	ATP8B1	NCBI