ARFIP1

Chr 4

ARF interacting protein 1

Also known as: HSU52521

NCBI Gene: 27236ENSG00000164144UniProt: P53367OMIM: 605928

Enables phosphatidylinositol-4-phosphate binding activity. Involved in negative regulation of retrograde transport, endosome to Golgi. Acts upstream of or within intracellular protein transport and regulation of protein secretion. Located in Golgi membrane; cytosol; and trans-Golgi network membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.94
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.94LOEUF
pLI 0.000
Z-score 1.75
OE 0.55 (0.34–0.94)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.08Z-score
OE missense 0.78 (0.68–0.89)
149 obs / 191.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.55 (0.34–0.94)
0≤0.351.4
Missense OE?0.78 (0.68–0.89)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 10 / 18.0Missense obs/exp: 149 / 191.2Syn Z: -0.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ARFIP1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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