ATP8B1

Protein identityUniProt · HPA

UniProt accession

O43520

Gene

ATP8B1

Ensembl

ENSG00000081923

Chromosome

18

Canonical length

1251 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

Subcellular location

Nucleoplasm,Nuclear bodies,Plasma membrane,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1251 residues, UniProt reviewed canonical sequence.

>O43520|ATP8B1
     1  MSTERDSETT FDEDSQPNDE VVPYSDDETE DELDDQGSAV EPEQNRVNRE AEENREPFRK
    61  ECTWQVKAND RKYHEQPHFM NTKFLCIKES KYANNAIKTY KYNAFTFIPM NLFEQFKRAA
   121  NLYFLALLIL QAVPQISTLA WYTTLVPLLV VLGVTAIKDL VDDVARHKMD KEINNRTCEV
   181  IKDGRFKVAK WKEIQVGDVI RLKKNDFVPA DILLLSSSEP NSLCYVETAE LDGETNLKFK
   241  MSLEITDQYL QREDTLATFD GFIECEEPNN RLDKFTGTLF WRNTSFPLDA DKILLRGCVI
   301  RNTDFCHGLV IFAGADTKIM KNSGKTRFKR TKIDYLMNYM VYTIFVVLIL LSAGLAIGHA
   361  YWEAQVGNSS WYLYDGEDDT PSYRGFLIFW GYIIVLNTMV PISLYVSVEV IRLGQSHFIN
   421  WDLQMYYAEK DTPAKARTTT LNEQLGQIHY IFSDKTGTLT QNIMTFKKCC INGQIYGDHR
   481  DASQHNHNKI EQVDFSWNTY ADGKLAFYDH YLIEQIQSGK EPEVRQFFFL LAVCHTVMVD
   541  RTDGQLNYQA ASPDEGALVN AARNFGFAFL ARTQNTITIS ELGTERTYNV LAILDFNSDR
   601  KRMSIIVRTP EGNIKLYCKG ADTVIYERLH RMNPTKQETQ DALDIFANET LRTLCLCYKE
   661  IEEKEFTEWN KKFMAASVAS TNRDEALDKV YEEIEKDLIL LGATAIEDKL QDGVPETISK
   721  LAKADIKIWV LTGDKKETAE NIGFACELLT EDTTICYGED INSLLHARME NQRNRGGVYA
   781  KFAPPVQESF FPPGGNRALI ITGSWLNEIL LEKKTKRNKI LKLKFPRTEE ERRMRTQSKR
   841  RLEAKKEQRQ KNFVDLACEC SAVICCRVTP KQKAMVVDLV KRYKKAITLA IGDGANDVNM
   901  IKTAHIGVGI SGQEGMQAVM SSDYSFAQFR YLQRLLLVHG RWSYIRMCKF LRYFFYKNFA
   961  FTLVHFWYSF FNGYSAQTAY EDWFITLYNV LYTSLPVLLM GLLDQDVSDK LSLRFPGLYI
  1021  VGQRDLLFNY KRFFVSLLHG VLTSMILFFI PLGAYLQTVG QDGEAPSDYQ SFAVTIASAL
  1081  VITVNFQIGL DTSYWTFVNA FSIFGSIALY FGIMFDFHSA GIHVLFPSAF QFTGTASNAL
  1141  RQPYIWLTII LAVAVCLLPV VAIRFLSMTI WPSESDKIQK HRKRLKAEEQ WQRRQQVFRR
  1201  GVSTRRSAYA FSHQRGYADL ISSGRSIRKK RSPLDAIVAD GTAEYRRTGD S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATP8B1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

10

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

71 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATP8B1.

Disease | AllUniProt

Conditions ATP8B1 is implicated in, by any mechanism.

• Cholestasis, progressive familial intrahepatic, 1 (PFIC1) MIM:211600
• Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) MIM:243300
• Cholestasis of pregnancy, intrahepatic 1 (ICP1) MIM:147480

Disease | GeneticClinVar

176 pathogenic / likely-pathogenic of 1,345 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Familial intrahepatic cholestasis
• Benign recurrent intrahepatic cholestasis type 1
• Progressive familial intrahepatic cholestasis type 1
• Cholestasis, intrahepatic, of pregnancy, 1
• Progressive familial intrahepatic cholestasis

Disease | ImmuneIEDB

Conditions an epitope on ATP8B1 was assayed in.

• human immunodeficiency virus infectious disease T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.56

gnomAD pLI

0

gnomAD missense Z

2.49

DepMap mean gene effect

0.08

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• apical protein localization
• bile acid and bile salt transport
• bile acid metabolic process
• Golgi organization
• inner ear receptor cell development
• monoatomic ion transmembrane transport
• negative regulation of DNA-templated transcription
• phospholipid translocation
• regulation of chloride transport
• regulation of microvillus assembly
• sensory perception of sound
• vestibulocochlear nerve formation
• xenobiotic transmembrane transport
• regulation of plasma membrane organization

Molecular functions

• ATP binding
• ATP hydrolysis activity
• ATPase-coupled intramembrane lipid transporter activity
• cardiolipin binding
• magnesium ion binding
• phosphatidylcholine flippase activity
• phosphatidylcholine floppase activity
• phosphatidylserine flippase activity
• phosphatidylserine floppase activity

Cellular components

• apical plasma membrane
• cytosol
• endoplasmic reticulum
• Golgi apparatus
• nuclear body
• nucleoplasm
• phospholipid-translocating ATPase complex
• plasma membrane
• stereocilium
• trans-Golgi network

Protein domainsUniProt · Pfam · InterPro

• P-type ATPase
• P-type ATPase, subfamily IV
• P-type ATPase, A domain superfamily
• P-type ATPase, phosphorylation site
• HAD superfamily
• P-type ATPase, transmembrane domain superfamily
• P-type ATPase, cytoplasmic domain N
• P-type ATPase, C-terminal
• P-type ATPase, N-terminal
• HAD-like superfamily
• P-type ATPase, haloacid dehalogenase domain
• P-type ATPase, A domain
• P-type ATPase actuator domain
• P-type ATPase, cytoplasmic domain N
• Phospholipid-translocating ATPase N-terminal
• Phospholipid-translocating P-type ATPase C-terminal

KeywordsUniProt

• ATP-binding
• Cell membrane
• Cell projection
• Endoplasmic reticulum
• Golgi apparatus
• Hearing
• Intrahepatic cholestasis
• Lipid transport
• Magnesium
• Membrane
• Metal-binding
• Nucleotide-binding
• Phosphoprotein
• Translocase
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of ATP8B1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TMEM30B
• TMEM30A