ATP8B1

Chr 18

ATPase phospholipid transporting 8B1

Also known as: ATPIC, BRIC, FIC1, ICP1, PFIC, PFIC1

NCBI Gene: 5205ENSG00000081923UniProt: O43520

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCholestasis, progressive familial intrahepatic, 1
UniProtCholestasis, benign recurrent intrahepatic, 1
UniProtCholestasis of pregnancy, intrahepatic 1

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
2
Active trials
38
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.56
LOEUF
LOF
Mechanism· G2P
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GeneReview available — ATP8B1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.56LOEUF
pLI 0.000
Z-score 4.59
OE 0.41 (0.30–0.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.49Z-score
OE missense 0.73 (0.68–0.79)
515 obs / 700.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.41 (0.30–0.56)
0≤0.351.4
Missense OE?0.73 (0.68–0.79)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 29 / 70.6Missense obs/exp: 515 / 700.8Syn Z: -0.23

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ATP8B1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients