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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ACTRT1
actin related protein T1
Chromosome X · Xq25
NCBI Gene: 139741Ensembl: ENSG00000123165.9HGNC: HGNC:24027UniProt: Q8TDG2
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chromatin bindingregulation of smoothened signaling pathwaynegative regulation of DNA-templated transcriptionnucleusmale infertility with azoospermia or oligozoospermia due to single gene mutationneoplasmazoospermiaesophageal squamous cell carcinoma
✦AI Summary

ACTRT1 (actin-related protein T1) is an X-linked gene encoding a cytoskeletal protein with dual roles in spermatogenesis and transcriptional regulation. Functionally, ACTRT1 negatively regulates Hedgehog signaling by binding to the GLI1 promoter and inhibiting its expression 1. At the cellular level, ACTRT1 localizes to the subacrosomal region of spermatids, where it forms a multimeric complex with ACTRT2, ACTL7A, and ACTL9 proteins that anchors developing acrosomes to the sperm nucleus 2. This interaction is mediated through connections with inner acrosomal membrane protein SPACA1 and nuclear envelope proteins PARP11 and SPATA46 2. Clinically, ACTRT1 deficiency causes severe male infertility. ACTRT1 deletions result in acrosomal detachment from sperm nuclei, sperm head deformations, and fertilization failure in affected males 3. Whole exome sequencing studies confirm ACTRT1 variants as established causative genes in primary male infertility cohorts 45. Additionally, ACTRT1 functions as a tumor suppressor; loss-of-function mutations or mutations in its regulatory enhancer RNAs lead to aberrant Hedgehog pathway activation and basal cell carcinoma development 1. These findings establish ACTRT1 as a critical gene maintaining both reproductive function and cancer suppression.

Sources cited
1
ACTRT1 negatively regulates Hedgehog signaling by directly binding the GLI1 promoter to inhibit its expression; loss of ACTRT1 activates the Hedgehog pathway
PMID: 28869610
2
ACTRT1 forms a multimeric complex with ACTRT2, ACTL7A, and ACTL9 in the subacrosomal region and anchors acrosomes to sperm nuclei; ACTRT1 knockout causes acrosome detachment and male subfertility
PMID: 35616329
3
ACTRT1 whole-gene deletion identified in infertile males causes acrosomal detachment, sperm head deformations, and fertilization failure
PMID: 38414365
4
ACTRT1 variants validated as causative genes in primary spermatogenic failure in male infertility cohorts
PMID: 38614076
5
ACTRT1 identified as known causative X-linked gene in male infertility using whole exome sequencing
PMID: 39267058
6
Novel ACTRT1 missense variant associated with severe oligoasthenoteratozoospermia and acrosome detachment phenotype
PMID: 41465095
Disease Associationsⓘ20
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.28Weak
neoplasmOpen Targets
0.10Weak
azoospermiaOpen Targets
0.10Weak
esophageal squamous cell carcinomaOpen Targets
0.07Suggestive
prostate adenocarcinomaOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 20Open Targets
0.06Suggestive
spermatogenic failure 72Open Targets
0.06Suggestive
spermatogenic failure 18Open Targets
0.06Suggestive
spermatogenic failure 27Open Targets
0.06Suggestive
spermatogenic failure 46Open Targets
0.06Suggestive
spermatogenic failure 51Open Targets
0.06Suggestive
spermatogenic failure 16Open Targets
0.06Suggestive
spermatogenic failure 42Open Targets
0.06Suggestive
prostate cancerOpen Targets
0.06Suggestive
spermatogenic failure 86Open Targets
0.06Suggestive
Male infertility due to large-headed multiflagellar polyploid spermatozoaOpen Targets
0.06Suggestive
spermatogenic failure 5Open Targets
0.06Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACTL10Shared pathway50%ACTRT3Shared pathway50%SH3BGRL3Shared pathway50%NAA25Shared pathway50%ACTR10Shared pathway50%ACTL7BShared pathway50%
Tissue Expression6 tissues
Ovary
0%
Brain
0%
Heart
0%
Lung
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ACTRT1ACTL10ACTRT3SH3BGRL3NAA25ACTR10ACTL7B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8TDG2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
3.28LoF Tolerant
pLIⓘ
0.20Tolerant
Observed/Expected LoF0.69 [0.25–3.28]
RankingsWhere ACTRT1 stands among ~20K protein-coding genes
  • #15,785of 20,598
    Most Researched14
  • #17,869of 17,882
    Most Constrained (LOEUF)3.28
Genes detectedACTRT1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Toward clinical exomes in diagnostics and management of male infertility.
PMID: 38614076
Am J Hum Genet · 2024
1.00
2
Whole exome sequencing analysis of 167 men with primary infertility.
PMID: 39267058
BMC Med Genomics · 2024
0.90
3
Deletion of ACTRT1 is associated with male infertility as sperm acrosomal ultrastructural defects and fertilization failure in human.
PMID: 38414365
Hum Reprod · 2024
0.80
4
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
PMID: 35986704
Br J Dermatol · 2022
0.70
5
Loss of perinuclear theca ACTRT1 causes acrosome detachment and severe male subfertility in mice.
PMID: 35616329
Development · 2022
0.60