A1CF

Chr 10

APOBEC1 complementation factor

Also known as: ACF, ACF64, ACF65, APOBEC1CF, ASP

Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

ResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
P/LP submissions
P/LP missense
0.88
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.88LOEUF
pLI 0.000
Z-score 2.10
OE 0.61 (0.420.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.99Z-score
OE missense 0.85 (0.770.93)
274 obs / 324.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.61 (0.420.88)
00.351.4
Missense OE?0.85 (0.770.93)
00.61.4
Synonymous OE?1.04
01.21.6
LoF obs/exp: 20 / 33.0Missense obs/exp: 274 / 324.2Syn Z: -0.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

A1CF · 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

No active trials found for this gene.

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