Gene Gene information from NCBI Gene database.
Entrez ID 9015
Gene name TATA-box binding protein associated factor, RNA polymerase I subunit A
Gene symbol TAF1A
Synonyms (NCBI Gene)
MGC:17061RAFI48SL1TAFI48
Chromosome 1
Chromosome location 1q41
Summary This gene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding protein-associated factor that plays a role in the assembly of the RNA polymerase I preinitiation complex. Alternate splicin
miRNA miRNA information provided by mirtarbase database.
127
miRTarBase ID miRNA Experiments Reference
MIRT022398 hsa-miR-124-3p Microarray 18668037
MIRT1409185 hsa-miR-1224-3p CLIP-seq
MIRT1409186 hsa-miR-1234 CLIP-seq
MIRT1409187 hsa-miR-150 CLIP-seq
MIRT1409188 hsa-miR-302a CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
NPM1 Activation 17069796
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0000120 Component RNA polymerase I transcription regulator complex IEA
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 17318177, 20075868, 25416956, 26496610, 33961781, 35271311
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604903 11532 ENSG00000143498
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15573
Protein name TATA box-binding protein-associated factor RNA polymerase I subunit A (RNA polymerase I-specific TBP-associated factor 48 kDa) (TAFI48) (TATA box-binding protein-associated factor 1A) (TBP-associated factor 1A) (Transcription factor SL1) (Transcription in
Protein function Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rat
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14929 TAF1_subA 63 423 TAF RNA Polymerase I subunit A Family
Sequence
Sequence length 450
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    B-WICH complex positively regulates rRNA expression
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase I Transcription Termination
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiomyopathy, familial restrictive, 6 Uncertain significance rs765321518, rs141728719 RCV001615034
RCV002285115
Familial cancer of breast Uncertain significance rs765321518 RCV005918070
Primary dilated cardiomyopathy Uncertain significance rs765321518 RCV002261375
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 29510897
Cardiomyopathies Associate 39209150
Cardiomyopathy Restrictive Associate 39209150
Colonic Neoplasms Associate 32522293
Drug Related Side Effects and Adverse Reactions Associate 20041693
Dystonic Disorders Associate 39209150
Hypersensitivity Immediate Associate 39369230
Infections Associate 33669411
Neoplasm Metastasis Associate 29510897
Neoplasms Associate 29510897