Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9013
Gene name	TATA-box binding protein associated factor, RNA polymerase I subunit C
Gene symbol	TAF1C
Synonyms (NCBI Gene)	MGC:39976SL1TAFI110TAFI95
Chromosome	16
Chromosome location	16q24.1
Summary	Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of

Show/Hide all (88)

miRTarBase ID	miRNA	Experiments	Reference
MIRT047782	hsa-miR-30d-5p	CLASH	23622248
MIRT1409248	hsa-miR-124	CLIP-seq
MIRT1409249	hsa-miR-1294	CLIP-seq
MIRT1409250	hsa-miR-1305	CLIP-seq
MIRT1409251	hsa-miR-1827	CLIP-seq
MIRT1409252	hsa-miR-2355-5p	CLIP-seq
MIRT1409253	hsa-miR-3190	CLIP-seq
MIRT1409254	hsa-miR-3194-3p	CLIP-seq
MIRT1409255	hsa-miR-3202	CLIP-seq
MIRT1409256	hsa-miR-3677-5p	CLIP-seq
MIRT1409257	hsa-miR-3679-3p	CLIP-seq
MIRT1409258	hsa-miR-4286	CLIP-seq
MIRT1409259	hsa-miR-4294	CLIP-seq
MIRT1409260	hsa-miR-4316	CLIP-seq
MIRT1409261	hsa-miR-4318	CLIP-seq
MIRT1409262	hsa-miR-4533	CLIP-seq
MIRT1409263	hsa-miR-4677-3p	CLIP-seq
MIRT1409264	hsa-miR-4679	CLIP-seq
MIRT1409265	hsa-miR-4723-5p	CLIP-seq
MIRT1409266	hsa-miR-4757-5p	CLIP-seq
MIRT1409267	hsa-miR-506	CLIP-seq
MIRT1409268	hsa-miR-513c	CLIP-seq
MIRT1409269	hsa-miR-514b-5p	CLIP-seq
MIRT1409270	hsa-miR-570	CLIP-seq
MIRT1409271	hsa-miR-22	CLIP-seq
MIRT1409272	hsa-miR-4485	CLIP-seq
MIRT1409273	hsa-miR-646	CLIP-seq
MIRT1920953	hsa-miR-1224-3p	CLIP-seq
MIRT1920954	hsa-miR-214	CLIP-seq
MIRT1409271	hsa-miR-22	CLIP-seq
MIRT1409254	hsa-miR-3194-3p	CLIP-seq
MIRT1920955	hsa-miR-330-3p	CLIP-seq
MIRT1920956	hsa-miR-3619-5p	CLIP-seq
MIRT1920957	hsa-miR-4291	CLIP-seq
MIRT1409272	hsa-miR-4485	CLIP-seq
MIRT1920958	hsa-miR-4660	CLIP-seq
MIRT1409273	hsa-miR-646	CLIP-seq
MIRT1920959	hsa-miR-761	CLIP-seq
MIRT1920960	hsa-miR-922	CLIP-seq
MIRT1920953	hsa-miR-1224-3p	CLIP-seq
MIRT1920954	hsa-miR-214	CLIP-seq
MIRT1409271	hsa-miR-22	CLIP-seq
MIRT1409254	hsa-miR-3194-3p	CLIP-seq
MIRT1920956	hsa-miR-3619-5p	CLIP-seq
MIRT1920957	hsa-miR-4291	CLIP-seq
MIRT1409272	hsa-miR-4485	CLIP-seq
MIRT1920958	hsa-miR-4660	CLIP-seq
MIRT1409273	hsa-miR-646	CLIP-seq
MIRT1920959	hsa-miR-761	CLIP-seq
MIRT1920960	hsa-miR-922	CLIP-seq
MIRT2122724	hsa-miR-147	CLIP-seq
MIRT2122725	hsa-miR-1587	CLIP-seq
MIRT2122726	hsa-miR-3591-3p	CLIP-seq
MIRT2122727	hsa-miR-4287	CLIP-seq
MIRT2122728	hsa-miR-4302	CLIP-seq
MIRT2122729	hsa-miR-4469	CLIP-seq
MIRT2122730	hsa-miR-4674	CLIP-seq
MIRT2122731	hsa-miR-4685-3p	CLIP-seq
MIRT2122732	hsa-miR-4697-3p	CLIP-seq
MIRT2122733	hsa-miR-4717-3p	CLIP-seq
MIRT2122734	hsa-miR-509-3p	CLIP-seq
MIRT2122735	hsa-miR-599	CLIP-seq
MIRT2345101	hsa-miR-4476	CLIP-seq
MIRT2395502	hsa-miR-128	CLIP-seq
MIRT2395503	hsa-miR-27a	CLIP-seq
MIRT2395504	hsa-miR-27b	CLIP-seq
MIRT1409256	hsa-miR-3677-5p	CLIP-seq
MIRT1409266	hsa-miR-4757-5p	CLIP-seq
MIRT2461065	hsa-miR-3670	CLIP-seq
MIRT2122728	hsa-miR-4302	CLIP-seq
MIRT2461066	hsa-miR-556-5p	CLIP-seq
MIRT2461065	hsa-miR-3670	CLIP-seq
MIRT2122728	hsa-miR-4302	CLIP-seq
MIRT2461066	hsa-miR-556-5p	CLIP-seq
MIRT2638167	hsa-miR-3616-3p	CLIP-seq
MIRT2638168	hsa-miR-4257	CLIP-seq
MIRT2638169	hsa-miR-4690-3p	CLIP-seq
MIRT2638170	hsa-miR-4725-5p	CLIP-seq
MIRT2638171	hsa-miR-504	CLIP-seq
MIRT2638172	hsa-miR-552	CLIP-seq
MIRT2638173	hsa-miR-764	CLIP-seq
MIRT2638174	hsa-miR-767-3p	CLIP-seq
MIRT2638167	hsa-miR-3616-3p	CLIP-seq
MIRT2638168	hsa-miR-4257	CLIP-seq
MIRT2638169	hsa-miR-4690-3p	CLIP-seq
MIRT2638170	hsa-miR-4725-5p	CLIP-seq
MIRT2638171	hsa-miR-504	CLIP-seq
MIRT2638174	hsa-miR-767-3p	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001164	Function	RNA polymerase I core promoter sequence-specific DNA binding	IBA
GO:0001164	Function	RNA polymerase I core promoter sequence-specific DNA binding	IDA	22368283
GO:0001181	Function	RNA polymerase I general transcription initiation factor activity	IDA	12498690
GO:0001188	Process	RNA polymerase I preinitiation complex assembly	IEA
GO:0001650	Component	Fibrillar center	IBA
GO:0001650	Component	Fibrillar center	IDA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	11250903, 17268553, 17318177, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005668	Component	RNA polymerase transcription factor SL1 complex	IDA	11250903
GO:0005668	Component	RNA polymerase transcription factor SL1 complex	IEA
GO:0005730	Component	Nucleolus	IDA	12498690
GO:0005730	Component	Nucleolus	IEA
GO:0006360	Process	Transcription by RNA polymerase I	IEA
GO:0006360	Process	Transcription by RNA polymerase I	TAS	7801123
GO:0006361	Process	Transcription initiation at RNA polymerase I promoter	NAS	12498690
GO:0006366	Process	Transcription by RNA polymerase II	TAS	7801123

MIM	HGNC	e!Ensembl
604905	11534	ENSG00000103168

Q15572

Protein name

TATA box-binding protein-associated factor RNA polymerase I subunit C (RNA polymerase I-specific TBP-associated factor 110 kDa) (TAFI110) (TATA box-binding protein-associated factor 1C) (TBP-associated factor 1C) (Transcription initiation factor SL1/TIF-I

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

Sequence

MDFPSSLRPALFLTGPLGLSDVPDLSFMCSWRDALTLPEAQPQNSENGALHVTKDLLWEP
ATPGPLPMLPPLIDPWDPGLTARDLLFRGGCRYRKRPRVVLDVTEQISRFLLDHGDVAFA
PLGKLMLENFKLEGAGSRTKKKTVVSVKKLLQDLGGHQPWGCPWAYLSNRQRRFSILGGP
ILGTSVASHLAELLHEELVLRWEQLLLDEACTGGALAWVPGRTPQFGQLVYPAGGAQDRL
HFQEVVLTPGDNPQFLGKPGRIQLQGPVRQVVTCTVQGESKALIYTFLPHWLTCYLTPGP
FHPSSALLAVRSDYHCAVWKFGKQWQPTLLQAMQVEKGATGISLSPHLPGELAICSRSGA
VCLWSPEDGLRQIYRDPETLVFRDSSSWRWADFTAHPRVLTVGDRTGVKMLDTQGPPGCG
LLLFRLGAEASCQKGERVLLTQYLGHSSPKCLPPTLHLVCTQFSLYLVDERLPLVPMLKW
NHGLPSPLLLARLLPPPRPSCVQPLLLGGQGGQLQLLHLAGEGASVPRLAGPPQSLPSRI
DSLPAFPLLEPKIQWRLQERLKAPTIGLAAVVPPLPSAPTPGLVLFQLSAAGDVFYQQLR
PQVDSSLRRDAGPPGDTQPDCHAPTASWTSQDTAGCSQWLKALLKVPLAPPVWTAPTFTH
RQMLGSTELRREEEEGQRLGVLRKAMARGQLLLQRDLGSLPAAEPPPAPESGLEDKLSER
LGEAWAGRGAAWWERQQGRTSEPGRQTRRPKRRTQLSSSFSLSGHVDPSEDTSSPHSPEW
PPADALPLPPTTPPSQELTPDACAQGVPSEQRQMLRDYMAKLPPQRDTPGCATTPPHSQA
SSVRATRSQQHTPVLSSSQPLRKKPRMGF

Sequence length

869

Interactions

View interactions

	Reactome
			B-WICH complex positively regulates rRNA expression RNA Polymerase I Transcription Initiation RNA Polymerase I Promoter Escape RNA Polymerase I Transcription Termination

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)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
AUTISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 13	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complex neurodevelopmental disorder	Benign	ClinVar GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TAF1C-Associated Neurodevelopmental Disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autistic Disorder	Autism	CTD_human_DG	20663923		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	GWASCAT_DG	22843504		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	GWASDB_DG	22843504		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	22887771	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25551296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31039436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASCAT_DG	27802415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	30353654	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TAF1C (TATA-box binding protein associated factor, RNA polymerase I subunit C)