AKIRIN1

Chr 1

akirin 1

Also known as: C1orf108, STRF2

NCBI Gene: 79647 ENSG00000174574 UniProt: Q9H9L7

AKIRIN1 encodes a nuclear transcriptional coregulator that functions as a molecular adapter in skeletal muscle development and regeneration, serving as a signal transducer for myostatin and regulating myoblast and macrophage chemotaxis through actin cytoskeleton reorganization. The gene is highly constrained against loss-of-function variants, but no definitive human disease associations have been established in the current literature. Any potential disorders would likely involve skeletal muscle development or regeneration given the protein's specific functional role.

ResearchSummary from RefSeq, UniProt

Predicted to enable transcription coregulator activity. Predicted to be involved in several processes, including myoblast migration involved in skeletal muscle regeneration; negative regulation of satellite cell differentiation; and positive regulation of lamellipodium assembly. Located in nuclear membrane and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.50

Clinical Summary— AKIRIN1

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.79) — some intolerance to loss-of-function variants.

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ClinVar Variants

25 VUS of 32 total submissions

Explore recent and relevant literature in Research Assistant →

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?

0.50LOEUF

pLI 0.793

Z-score 2.57

OE 0.10 (0.04–0.50)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.50Z-score

OE missense 0.85 (0.70–1.03)

71 obs / 83.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.10 (0.04–0.50)

0≤0.351.4

Missense OE?0.85 (0.70–1.03)

0≤0.61.4

Synonymous OE?1.11

0≤1.21.6

LoF obs/exp: 1 / 9.6Missense obs/exp: 71 / 83.9Syn Z: -0.45

This gene — mechanism propensity

0.5279th %ile

GOF

0.3788th %ile

LOF

0.69top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.50

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

32 submitted variants in ClinVar

ClinVar

Classification Summary

VUS25

Likely Benign1

Benign1

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	25	0	25
Likely Benign	0	1	1
Benign	0	1	1
Total	25	2	27

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

7 pathogenic / likely-pathogenic (of 14) ClinVar copy-number / structural variants overlap AKIRIN1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →