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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HTATSF1
HIV-1 Tat specific factor 1
Chromosome X · Xq26.3
NCBI Gene: 27336Ensembl: ENSG00000102241.13HGNC: HGNC:5276UniProt: O43719
133PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly ConstrainedHomologous RecombinationTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmU2-type spliceosomal complexsite of double-strand breakprotein bindingneurodegenerative diseaseneoplasmbreast cancerbreast neoplasm
✦AI Summary

HTATSF1 (HIV-1 Tat specific factor 1) is a multifunctional RNA-binding protein that plays critical roles in RNA processing, DNA repair, and cellular differentiation. Its primary function involves controlling embryonic stem cell differentiation by regulating ribosome biogenesis - specifically controlling intron removal from ribosomal protein transcripts and regulating ribosomal RNA transcription and processing in complex with splicing factor SF3B1 1. The protein also functions in homologous recombination DNA repair, where CK2 kinase phosphorylates HTATSF1 at Ser748 to facilitate its interaction with TOPBP1, promoting RAD51 recruitment and HR repair 2. HTATSF1 participates in pre-spliceosome assembly and transcription elongation, with disrupted HTATSF1-SF3B1 interactions linked to oncogenic splicing factor mutations 3. Clinically, the CK2-HTATSF1-TOPBP1 axis is hyperactivated in multiple malignancies and renders breast tumors less responsive to chemotherapy, while loss-of-function mutations increase vulnerability to PARP inhibitors 2. HTATSF1 also exhibits β-arrestin-binding properties through an 'arreSTick' motif, influencing its subcellular localization 4. The gene serves as a stable reference for qPCR normalization in muscular dystrophy studies 5.

Sources cited
1
HTATSF1 controls embryonic stem cell differentiation by regulating ribosome biogenesis in complex with SF3B1
PMID: 29625069
2
CK2 phosphorylates HTATSF1 Ser748 for TOPBP1 interaction and HR repair; hyperactivated in malignancies affecting chemotherapy response
PMID: 38762174
3
HTATSF1 participates in pre-spliceosome assembly and transcription elongation with SF3B1
PMID: 36891287
4
HTATSF1 contains arreSTick motif for β-arrestin-binding and subcellular localization control
PMID: 38758647
5
HTATSF1 serves as stable qPCR reference gene in muscular dystrophy studies
PMID: 39999085
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.36Weak
neoplasmOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.07Suggestive
breast neoplasmOpen Targets
0.07Suggestive
ulcerative colitisOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
viral diseaseOpen Targets
0.03Suggestive
autoimmune diseaseOpen Targets
0.02Suggestive
celiac diseaseOpen Targets
0.02Suggestive
juvenile idiopathic arthritisOpen Targets
0.02Suggestive
ankylosing spondylitisOpen Targets
0.02Suggestive
autoimmune thyroid diseaseOpen Targets
0.02Suggestive
common variable immunodeficiencyOpen Targets
0.02Suggestive
Crohn's diseaseOpen Targets
0.02Suggestive
psoriasisOpen Targets
0.02Suggestive
systemic lupus erythematosusOpen Targets
0.02Suggestive
type 1 diabetes mellitusOpen Targets
0.02Suggestive
ulcerative proctosigmoiditisOpen Targets
0.02Suggestive
lung cancerOpen Targets
0.02Suggestive
inflammatory bowel diseaseOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SF3B3Protein interaction100%SF3B2Protein interaction100%SNRPGProtein interaction100%SF3B5Protein interaction100%SF3A2Protein interaction100%SF3A3Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
97%
Bone Marrow
81%
Ovary
61%
Lung
28%
Liver
24%
Gene Interaction Network
Click a node to explore
HTATSF1SF3B3SF3B2SNRPGSF3B5SF3A2SF3A3
PROTEIN STRUCTURE
Preparing viewer…
PDB6N3D · 1.13 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.26Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.13 [0.07–0.26]
RankingsWhere HTATSF1 stands among ~20K protein-coding genes
  • #3,485of 20,598
    Most Researched133 · top quartile
  • #821of 17,882
    Most Constrained (LOEUF)0.26 · top 5%
Genes detectedHTATSF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Coordinated Control of mRNA and rRNA Processing Controls Embryonic Stem Cell Pluripotency and Differentiation.
PMID: 29625069
Cell Stem Cell · 2018
1.00
2
CK2-HTATSF1-TOPBP1 signaling axis modulates tumor chemotherapy response.
PMID: 38762174
J Biol Chem · 2024
0.90
3
Identification of suitable qPCR reference genes for the normalization of gene expression in the BL10-mdx and D2-mdx mouse models of Duchenne muscular dystrophy.
PMID: 39999085
PLoS One · 2025
0.80
4
Comparative proteomic analysis identifies differentially expressed proteins associated with meiotic arrest in cattle-yak hybrids.
PMID: 37050850
Proteomics · 2023
0.70
5
Transcription elongation defects link oncogenic splicing factor mutations to targetable alterations in chromatin landscape.
PMID: 36891287
bioRxiv · 2023
0.60