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Gene Gene information from NCBI Gene database.
Entrez ID 27336
Gene name HIV-1 Tat specific factor 1
Gene symbol HTATSF1
Synonyms (NCBI Gene)
TAT-SF1TATSF1dJ196E23.2
Chromosome X
Chromosome location Xq26.3
Summary The protein encoded by this gene functions as a cofactor for the stimulation of transcriptional elongation by HIV-1 Tat, which binds to the HIV-1 promoter through Tat-TAR interaction. This protein may also serve as a dual-function factor to couple transcr
miRNA miRNA information provided by mirtarbase database.
41 Show/Hide all (41)
miRTarBase ID miRNA Experiments Reference
MIRT036920 hsa-miR-877-3p CLASH 23622248
MIRT1057131 hsa-miR-10a CLIP-seq
MIRT1057132 hsa-miR-10b CLIP-seq
MIRT1057133 hsa-miR-145 CLIP-seq
MIRT1057134 hsa-miR-3133 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34 Show/Hide all (34)
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IDA 32494006, 34822310, 36797247
GO:0000398 Process MRNA splicing, via spliceosome IEA
GO:0000398 Process MRNA splicing, via spliceosome NAS 31744343
GO:0000724 Process Double-strand break repair via homologous recombination IDA 18417535, 26811421
GO:0000724 Process Double-strand break repair via homologous recombination IDA 35597237
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300346 5276 ENSG00000102241
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43719
Protein name 17S U2 SnRNP complex component HTATSF1 (HIV Tat-specific factor 1) (Tat-SF1)
Protein function Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:30567737, PubMed:32494006, PubMed:34822310). The 17S U2 SnRNP complex (1) directly participates i
PDB 2DIT , 6N3D , 6N3E , 6N3F , 6NSX , 6Y50 , 6Y53 , 6Y5Q , 7EVO , 7Q3L , 8HK1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 287 → 343 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 135 → 212 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:8849451}.
Sequence
MSGTNLDGNDEFDEQLRMQELYGDGKDGDTQTDAGGEPDSLGQQPTDTPYEWDLDKKAWF
PKITEDFIATYQANYGFSNDGASSSTANVEDVHARTAEEPPQEKAPEPTDARKKGEKRKA
ESGWFHVEEDRNTNVYVSGLPPDITVDEFIQLMSKFGIIMRDPQTEEFKVKLYKDNQGNL
KGDGLCCYLKRESVELALKLLDEDEIRGYKLH
VEVAKFQLKGEYDASKKKKKCKDYKKKL
SMQQKQLDWRPERRAGPSRMRHERVVIIKNMFHPMDFEDDPLVLNEIREDLRVECSKFGQ
IRKLLLFDRHPDGVASVSFRDPEEADYCIQTLDGRWFGGRQIT
AQAWDGTTDYQVEETSR
EREERLRGWEAFLNAPEANRGLRRSDSVSASERAGPSRARHFSEHPSTSKMNAQETATGM
AFEEPIDEKKFEKTEDGGEFEEGASENNAKESSPEKEAEEGCPEKESEEGCPKRGFEGSC
SQKESEEGNPVRGSEEDSPKKESKKKTLKNDCEENGLAKESEDDLNKESEEEVGPTKESE
EDDSEKESDEDCSEKQSEDGSEREFEENGLEKDLDEEGSEKELHENVLDKELEENDSENS
EFEDDGSEKVLDEEGSEREFDEDSDEKEEEEDTYEKVFDDESDEKEDEEYADEKGLEAAD
KKAEEGDADEKLFEESDDKEDEDADGKEVEDADEKLFEDDDSNEKLFDEEEDSSEKLFDD
SDERGTLGGFGSVEEGPLSTGSSFILSSDDDDDDI
Sequence length 755
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
HTATSF1-related disorder Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis Psoriatic Psoriatic arthritis Pubtator 34344401 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 28720891 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only