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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TMF1
TATA element modulatory factor 1
Chromosome 3 · 3p14.1
NCBI Gene: 7110Ensembl: ENSG00000144747.18HGNC: HGNC:11870UniProt: P82094
72PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription coactivator activityGolgi apparatusnuclear androgen receptor bindingandrogen receptor signaling pathwayneurodegenerative diseaseazoospermiapartial chromosome Y deletionspermatogenic failure 78
✦AI Summary

TMF1 (TATA element modulatory factor 1) is a multifunctional protein with roles in transcriptional regulation, intracellular trafficking, and male fertility. As a transcriptional regulator, TMF1 binds the HIV-1 TATA element and inhibits transcriptional activation by the TATA-binding protein, while also serving as a potential coactivator of the androgen receptor 1. TMF1 mediates STAT3 degradation and plays critical roles in RAB6-dependent retrograde transport between endosomes-Golgi and Golgi-ER compartments 2. Functionally, TMF1 interacts with RAB3GAP1 and DOCK7 to regulate ER-Golgi trafficking and axon elongation, with loss of function affecting cellular stress response pathways including ATF6 and PI3-AKT signaling 2. Clinically, TMF1 dysregulation is associated with multiple pathologies: pathogenic splicing variants (c.2859+4A>G causing exon 14 skipping) cause male infertility with reduced sperm motility, morphological defects, and subfertility in both humans and Tmf1 knock-in mice 3. TMF1 downregulation occurs in cervical cancer following 3p12-p14 chr3 loss, correlating with tumor progression and poor prognosis 4, while elevated TMF1 in diabetic foot ulcer vascular endothelium increases secondary peripheral artery disease risk 5. These findings establish TMF1 as a multifaceted regulator essential for normal reproductive development and tissue homeostasis.

Sources cited
1
TMF1 splicing variant (c.2859+4A>G) causes male infertility with decreased sperm motility, morphological abnormalities, and subfertility in patients and Tmf1 knock-in mice
PMID: 41168986
2
TMF1 modulates ER-Golgi trafficking, interacts with RAB3GAP1 and DOCK7 for axon elongation, and regulates cellular stress response pathways (ATF6, MAPK, PI3-AKT)
PMID: 37385458
3
TMF1/ARA160 functions as an androgen receptor coactivator with constant expression in primary prostate cancers
PMID: 12368219
4
TMF1 is a target gene of recurrent 3p12-p14 loss in cervical cancer, with downregulation associated with tumor progression and prognostic significance
PMID: 23335387
5
Downregulated TMF1 in diabetic foot ulcer vascular endothelium increases risk of secondary diabetic peripheral artery disease
PMID: 40824138
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.17Weak
azoospermiaOpen Targets
0.10Weak
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 78Open Targets
0.07Suggestive
spermatogenic failure 42Open Targets
0.07Suggestive
infectious meningitisOpen Targets
0.07Suggestive
spermatogenic failure 85Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 7Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.07Suggestive
spermatogenic failure 72Open Targets
0.07Suggestive
spermatogenic failure 18Open Targets
0.07Suggestive
spermatogenic failure 27Open Targets
0.07Suggestive
spermatogenic failure 46Open Targets
0.07Suggestive
spermatogenic failure 91Open Targets
0.07Suggestive
spermatogenic failure 19Open Targets
0.07Suggestive
spermatogenic failure 43Open Targets
0.07Suggestive
spermatogenic failure 45Open Targets
0.07Suggestive
spermatogenic failure 49Open Targets
0.07Suggestive
spermatogenic failure 82Open Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GCC2Protein interaction88%RAB6BProtein interaction84%ANKARProtein interaction82%GCC1Protein interaction81%GOLGA4Protein interaction78%GOLGA1Protein interaction73%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
51%
Heart
47%
Ovary
46%
Brain
42%
Liver
31%
Gene Interaction Network
Click a node to explore
TMF1GCC2RAB6BANKARGCC1GOLGA4GOLGA1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P82094
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.62LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.49 [0.40–0.62]
RankingsWhere TMF1 stands among ~20K protein-coding genes
  • #6,591of 20,598
    Most Researched72
  • #4,346of 17,882
    Most Constrained (LOEUF)0.62 · top quartile
Genes detectedTMF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Knockdown of eIF3a alleviates pulmonary arterial hypertension by inhibiting endothelial-to-mesenchymal transition via TGFβ1/SMAD pathway.
PMID: 40346622
J Transl Med · 2025
1.00
2
Decoding the Spatiotemporal Dynamics of ENTPD1 in Diabetic Foot Ulcer Through Multi-Omic Profiling.
PMID: 40824138
FASEB J · 2025
0.90
3
The plasma peptides of sepsis.
PMID: 32636717
Clin Proteomics · 2020
0.80
4
Mapping the Non-Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility.
PMID: 41168986
Adv Sci (Weinh) · 2026
0.70
5
The Warburg micro syndrome protein RAB3GAP1 modulates neuronal morphogenesis and interacts with axon elongation end ER-Golgi trafficking factors.
PMID: 37385458
Neurobiol Dis · 2023
0.60