Gene Gene information from NCBI Gene database.
Entrez ID 79101
Gene name TATA-box binding protein associated factor, RNA polymerase I subunit D
Gene symbol TAF1D
Synonyms (NCBI Gene)
JOSD3RAFI41TAF(I)41TAFI41
Chromosome 11
Chromosome location 11q21
Summary TAF1D is a member of the SL1 complex, which includes TBP (MIM 600075) and TAF1A (MIM 604903), TAF1B (MIM 604904), and TAF1C (MIM 604905), and plays a role in RNA polymerase I transcription (Wang et al., 2004 [PubMed 15520167]; Gorski et al., 2007 [PubMed
miRNA miRNA information provided by mirtarbase database.
312
miRTarBase ID miRNA Experiments Reference
MIRT016190 hsa-miR-590-3p Sequencing 20371350
MIRT027628 hsa-miR-98-5p Microarray 19088304
MIRT036069 hsa-miR-1296-5p CLASH 23622248
MIRT682131 hsa-miR-576-3p HITS-CLIP 23706177
MIRT466683 hsa-miR-1915-3p HITS-CLIP 23706177
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:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 15520167, 21900206, 25416956, 32296183
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IBA
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
612823 28759 ENSG00000166012
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H5J8
Protein name TATA box-binding protein-associated factor RNA polymerase I subunit D (RNA polymerase I-specific TBP-associated factor 41 kDa) (TAFI41) (TATA box-binding protein-associated factor 1D) (TBP-associated factor 1D) (Transcription initiation factor SL1/TIF-IB
Protein function Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15333 TAF1D 27 244 TATA box-binding protein-associated factor 1D Family
Sequence
Sequence length 278
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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 Evidence Score
DERMATOLOGIC DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SKIN DISEASES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SKIN DISEASES, GENETIC Disgenet
★★☆☆☆
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
Arsenic Encephalopathy Arsenic Encephalopathy CTD_human_DG 16835338
★☆☆☆☆
Found in Text Mining only
Dermatologic disorders Dermatologic Disorders CTD_human_DG 16835338
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hypersensitivity Immediate Hypersensitivity Pubtator 39369230 Associate
★☆☆☆☆
Found in Text Mining only
Intervertebral Disc Degeneration Intervertebral disc disease Pubtator 35409356 Associate
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma Pubtator 27517149 Associate
★☆☆☆☆
Found in Text Mining only