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ATP8B1

Chr 18q21.31

ATPase phospholipid transporting 8B1

Aliases:
ATPIC, PFIC
MANE:
ENST00000648908.2
OMIM: 602397 ↗NCBI: 5205 ↗Ensembl ↗

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Cholestasis

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Likely inborn error of metabolism

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Neonatal cholestasis

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Undiagnosed metabolic disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Childhood onset dystonia, chorea or related movement disorder

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • progressive familial intrahepatic cholestasis type 1

    0.84

  • benign recurrent intrahepatic cholestasis type 1

    0.82

  • progressive familial intrahepatic cholestasis

    0.70

  • intrahepatic cholestasis

    0.69

  • Intrahepatic cholestasis of pregnancy

    0.69

  • benign recurrent intrahepatic cholestasis

    0.56

  • familial intrahepatic cholestasis

    0.47

  • hereditary disease

    0.42

  • Fuchs' endothelial dystrophy

    0.28

  • corneal dystrophy

    0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Phospholipid-transporting ATPase IC

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:17948906, PubMed:25315773). 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)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.