ATP8B1 ATPase phospholipid transporting 8B1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP8B1provided by HGNC
Official Full Name: ATPase phospholipid transporting 8B1provided by HGNC
Primary source: HGNC:HGNC:3706
See related: Ensembl:ENSG00000081923 MIM:602397; AllianceGenome:HGNC:3706
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BRIC; FIC1; ICP1; PFIC; ATPIC; PFIC1
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]
Expression: Broad expression in colon (RPKM 52.5), stomach (RPKM 26.5) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q21.31

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (57646426..57803315, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (57847030..58003571, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (55313658..55470547, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Activation and substrate specificity of the human P4-ATPase ATP8B1.
Title: Activation and substrate specificity of the human P4-ATPase ATP8B1.
ATP8B1: A prognostic prostate cancer biomarker identified via genetic analysis.
Title: ATP8B1: A prognostic prostate cancer biomarker identified via genetic analysis.
ATP8B1 Deficiency Results in Elevated Mitochondrial Phosphatidylethanolamine Levels and Increased Mitochondrial Oxidative Phosphorylation in Human Hepatoma Cells.
Title: ATP8B1 Deficiency Results in Elevated Mitochondrial Phosphatidylethanolamine Levels and Increased Mitochondrial Oxidative Phosphorylation in Human Hepatoma Cells.
Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
Title: Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.
Title: Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.
Modulation of ATP8B1 Gene Expression in Colorectal Cancer Cells Suggest its Role as a Tumor Suppressor.
Title: Modulation of ATP8B1 Gene Expression in Colorectal Cancer Cells Suggest its Role as a Tumor Suppressor.
Autoinhibition and regulation by phosphoinositides of ATP8B1, a human lipid flippase associated with intrahepatic cholestatic disorders.
Title: Autoinhibition and regulation by phosphoinositides of ATP8B1, a human lipid flippase associated with intrahepatic cholestatic disorders.
Structural insights into the activation of autoinhibited human lipid flippase ATP8B1 upon substrate binding.
Title: Structural insights into the activation of autoinhibited human lipid flippase ATP8B1 upon substrate binding.
Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing.
Title: Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing.
Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
Title: Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.

Submit: New GeneRIF Correction See all GeneRIFs (55)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Benign recurrent intrahepatic cholestasis type 1 MedGen: C4551899 OMIM: 243300 GeneReviews: ATP8B1 Deficiency, Pediatric Genetic Cholestatic Liver Disease Overview	Compare labs
Cholestasis, intrahepatic, of pregnancy, 1 MedGen: C3549845 OMIM: 147480 GeneReviews: Not available	Compare labs
Progressive familial intrahepatic cholestasis type 1 MedGen: C4551898 OMIM: 211600 GeneReviews: ATP8B1 Deficiency, Pediatric Genetic Cholestatic Liver Disease Overview	Compare labs

EBI GWAS Catalog

Description
Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L17705 (e-PCR)
- UniSTS:66091

G36359 (e-PCR)
- UniSTS:79161

D18S381 (e-PCR)
- UniSTS:44910

L17877 (e-PCR)
- UniSTS:61334

G65640 (e-PCR)
- UniSTS:225431

L17971 (e-PCR)
- UniSTS:43966

RH80031 (e-PCR)
- UniSTS:91103

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled intramembrane lipid transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase-coupled intramembrane lipid transporter activity	TAS Traceable Author Statement more info	PubMed
enables cardiolipin binding	IEA Inferred from Electronic Annotation more info
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylcholine flippase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylcholine floppase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylserine flippase activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylserine floppase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in aminophospholipid translocation	IEA Inferred from Electronic Annotation more info
involved_in apical protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bile acid and bile salt transport	NAS Non-traceable Author Statement more info	PubMed
involved_in bile acid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in inner ear receptor cell development	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transmembrane transport	TAS Traceable Author Statement more info
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid translocation	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipid translocation	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid translocation	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of chloride transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of microvillus assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of plasma membrane organization	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in vestibulocochlear nerve formation	IEA Inferred from Electronic Annotation more info
involved_in xenobiotic transmembrane transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
part_of phospholipid-translocating ATPase complex	IDA Inferred from Direct Assay more info	PubMed
part_of phospholipid-translocating ATPase complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in stereocilium	IEA Inferred from Electronic Annotation more info
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: phospholipid-transporting ATPase IC

Names: ATPase, aminophospholipid transporter, class I, type 8B, member 1; ATPase, class I, type 8B, member 1; E1-E2 ATPase; P4-ATPase flippase complex alpha subunit ATP8B1; familial intrahepatic cholestasis type 1; probable phospholipid-transporting ATPase IC

NP_001361314.1

EC 7.6.2.1

NP_001361315.1

EC 7.6.2.1

NP_005594.2

EC 7.6.2.1

XP_011524325.1

EC 7.6.2.1

XP_047293497.1

EC 7.6.2.1

XP_047293498.1

EC 7.6.2.1

XP_047293499.1

EC 7.6.2.1

XP_047293500.1

EC 7.6.2.1

XP_047293501.1

EC 7.6.2.1

XP_047293502.1

EC 7.6.2.1

XP_047293503.1

EC 7.6.2.1

XP_047293504.1

EC 7.6.2.1

XP_054174653.1

EC 7.6.2.1

XP_054174654.1

EC 7.6.2.1

XP_054174655.1

EC 7.6.2.1

XP_054174656.1

EC 7.6.2.1

XP_054174657.1

EC 7.6.2.1

XP_054174658.1

EC 7.6.2.1

XP_054174659.1

EC 7.6.2.1

XP_054174660.1

EC 7.6.2.1

XP_054174661.1

EC 7.6.2.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007148.3 RefSeqGene

Range

5508..162397

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1205

mRNA and Protein(s)

NM_001374385.1 → NP_001361314.1 phospholipid-transporting ATPase IC isoform 1

Status: REVIEWED

Source sequence(s)

AC022724, AC027097

Consensus CDS

CCDS11965.1

UniProtKB/Swiss-Prot

O43520, Q9BTP8

Related

ENSP00000497896.1, ENST00000648908.2

Conserved Domains (1) summary

cd02073
Location:94 → 1051

P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
NM_001374386.1 → NP_001361315.1 phospholipid-transporting ATPase IC isoform 2

Status: REVIEWED

Source sequence(s)

AC022724, AC027097

Conserved Domains (1) summary

cd02073
Location:44 → 1001

P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
NM_005603.6 → NP_005594.2 phospholipid-transporting ATPase IC isoform 1

Status: REVIEWED

Source sequence(s)

AC022724, AC027097

Consensus CDS

CCDS11965.1

UniProtKB/Swiss-Prot

O43520, Q9BTP8

Conserved Domains (1) summary

cd02073
Location:94 → 1051

P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

57646426..57803315 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047437547.1 → XP_047293503.1 phospholipid-transporting ATPase IC isoform X2
XM_011526023.4 → XP_011524325.1 phospholipid-transporting ATPase IC isoform X2

Conserved Domains (5) summary

TIGR01652
Location:75 → 1141

ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase

pfam00122
Location:133 → 196

E1-E2_ATPase; E1-E2 ATPase

pfam13246
Location:495 → 590

Cation_ATPase; Cation transport ATPase (P-type)

pfam16212
Location:881 → 1135

PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal

cl21460
Location:837 → 881

HAD_like; Haloacid Dehalogenase-like Hydrolases
XM_047437543.1 → XP_047293499.1 phospholipid-transporting ATPase IC isoform X1

UniProtKB/Swiss-Prot

O43520, Q9BTP8
XM_047437542.1 → XP_047293498.1 phospholipid-transporting ATPase IC isoform X1

UniProtKB/Swiss-Prot

O43520, Q9BTP8
XM_047437545.1 → XP_047293501.1 phospholipid-transporting ATPase IC isoform X1

UniProtKB/Swiss-Prot

O43520, Q9BTP8
XM_047437548.1 → XP_047293504.1 phospholipid-transporting ATPase IC isoform X2
XM_047437541.1 → XP_047293497.1 phospholipid-transporting ATPase IC isoform X1

UniProtKB/Swiss-Prot

O43520, Q9BTP8
XM_047437544.1 → XP_047293500.1 phospholipid-transporting ATPase IC isoform X1

UniProtKB/Swiss-Prot

O43520, Q9BTP8
XM_047437546.1 → XP_047293502.1 phospholipid-transporting ATPase IC isoform X1

UniProtKB/Swiss-Prot

O43520, Q9BTP8