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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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

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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
MIRT1409189	hsa-miR-302b	CLIP-seq
MIRT1409190	hsa-miR-302c	CLIP-seq
MIRT1409191	hsa-miR-302d	CLIP-seq
MIRT1409192	hsa-miR-302e	CLIP-seq
MIRT1409193	hsa-miR-372	CLIP-seq
MIRT1409194	hsa-miR-373	CLIP-seq
MIRT1409195	hsa-miR-4731-5p	CLIP-seq
MIRT1409196	hsa-miR-512-3p	CLIP-seq
MIRT1409197	hsa-miR-520a-3p	CLIP-seq
MIRT1409198	hsa-miR-520b	CLIP-seq
MIRT1409199	hsa-miR-520c-3p	CLIP-seq
MIRT1409200	hsa-miR-520d-3p	CLIP-seq
MIRT1409201	hsa-miR-520e	CLIP-seq
MIRT1409202	hsa-miR-1208	CLIP-seq
MIRT1409185	hsa-miR-1224-3p	CLIP-seq
MIRT1409203	hsa-miR-1237	CLIP-seq
MIRT1409204	hsa-miR-1248	CLIP-seq
MIRT1409205	hsa-miR-1307	CLIP-seq
MIRT1409206	hsa-miR-1976	CLIP-seq
MIRT1409207	hsa-miR-3149	CLIP-seq
MIRT1409208	hsa-miR-3187-3p	CLIP-seq
MIRT1409209	hsa-miR-3545-3p	CLIP-seq
MIRT1409210	hsa-miR-3663-5p	CLIP-seq
MIRT1409211	hsa-miR-370	CLIP-seq
MIRT1409212	hsa-miR-411	CLIP-seq
MIRT1409213	hsa-miR-4252	CLIP-seq
MIRT1409214	hsa-miR-4263	CLIP-seq
MIRT1409215	hsa-miR-4279	CLIP-seq
MIRT1409216	hsa-miR-4284	CLIP-seq
MIRT1409217	hsa-miR-433	CLIP-seq
MIRT1409218	hsa-miR-4420	CLIP-seq
MIRT1409219	hsa-miR-4433	CLIP-seq
MIRT1409220	hsa-miR-4435	CLIP-seq
MIRT1409221	hsa-miR-4514	CLIP-seq
MIRT1409222	hsa-miR-4532	CLIP-seq
MIRT1409223	hsa-miR-4635	CLIP-seq
MIRT1409224	hsa-miR-4638-5p	CLIP-seq
MIRT1409225	hsa-miR-4645-5p	CLIP-seq
MIRT1409226	hsa-miR-4673	CLIP-seq
MIRT1409227	hsa-miR-4680-5p	CLIP-seq
MIRT1409228	hsa-miR-4692	CLIP-seq
MIRT1409229	hsa-miR-4701-5p	CLIP-seq
MIRT1409230	hsa-miR-4722-5p	CLIP-seq
MIRT1409231	hsa-miR-4755-3p	CLIP-seq
MIRT1409232	hsa-miR-4768-5p	CLIP-seq
MIRT1409233	hsa-miR-4772-3p	CLIP-seq
MIRT1409234	hsa-miR-4799-5p	CLIP-seq
MIRT1409235	hsa-miR-498	CLIP-seq
MIRT1409236	hsa-miR-500a	CLIP-seq
MIRT1409237	hsa-miR-548s	CLIP-seq
MIRT1409238	hsa-miR-576-5p	CLIP-seq
MIRT1409239	hsa-miR-588	CLIP-seq
MIRT1409240	hsa-miR-595	CLIP-seq
MIRT1409241	hsa-miR-605	CLIP-seq
MIRT1409242	hsa-miR-640	CLIP-seq
MIRT1409243	hsa-miR-892a	CLIP-seq
MIRT1409244	hsa-miR-924	CLIP-seq
MIRT1409245	hsa-miR-940	CLIP-seq
MIRT1409246	hsa-miR-942	CLIP-seq
MIRT1409209	hsa-miR-3545-3p	CLIP-seq
MIRT1409217	hsa-miR-433	CLIP-seq
MIRT1409227	hsa-miR-4680-5p	CLIP-seq
MIRT1409202	hsa-miR-1208	CLIP-seq
MIRT1409185	hsa-miR-1224-3p	CLIP-seq
MIRT1409186	hsa-miR-1234	CLIP-seq
MIRT1409187	hsa-miR-150	CLIP-seq
MIRT1409206	hsa-miR-1976	CLIP-seq
MIRT1409188	hsa-miR-302a	CLIP-seq
MIRT1409189	hsa-miR-302b	CLIP-seq
MIRT1409190	hsa-miR-302c	CLIP-seq
MIRT1409191	hsa-miR-302d	CLIP-seq
MIRT1409192	hsa-miR-302e	CLIP-seq
MIRT1409207	hsa-miR-3149	CLIP-seq
MIRT2122710	hsa-miR-3157-5p	CLIP-seq
MIRT1409208	hsa-miR-3187-3p	CLIP-seq
MIRT1409210	hsa-miR-3663-5p	CLIP-seq
MIRT1409211	hsa-miR-370	CLIP-seq
MIRT1409193	hsa-miR-372	CLIP-seq
MIRT1409194	hsa-miR-373	CLIP-seq
MIRT2122711	hsa-miR-3977	CLIP-seq
MIRT1409212	hsa-miR-411	CLIP-seq
MIRT1409215	hsa-miR-4279	CLIP-seq
MIRT1409218	hsa-miR-4420	CLIP-seq
MIRT1409220	hsa-miR-4435	CLIP-seq
MIRT1409229	hsa-miR-4701-5p	CLIP-seq
MIRT1409195	hsa-miR-4731-5p	CLIP-seq
MIRT1409231	hsa-miR-4755-3p	CLIP-seq
MIRT1409235	hsa-miR-498	CLIP-seq
MIRT1409196	hsa-miR-512-3p	CLIP-seq
MIRT1409197	hsa-miR-520a-3p	CLIP-seq
MIRT1409198	hsa-miR-520b	CLIP-seq
MIRT1409199	hsa-miR-520c-3p	CLIP-seq
MIRT1409200	hsa-miR-520d-3p	CLIP-seq
MIRT1409201	hsa-miR-520e	CLIP-seq
MIRT1409237	hsa-miR-548s	CLIP-seq
MIRT1409239	hsa-miR-588	CLIP-seq
MIRT1409243	hsa-miR-892a	CLIP-seq
MIRT1409206	hsa-miR-1976	CLIP-seq
MIRT2122710	hsa-miR-3157-5p	CLIP-seq
MIRT1409211	hsa-miR-370	CLIP-seq
MIRT2122711	hsa-miR-3977	CLIP-seq
MIRT1409215	hsa-miR-4279	CLIP-seq
MIRT1409222	hsa-miR-4532	CLIP-seq
MIRT2466206	hsa-miR-4740-3p	CLIP-seq
MIRT1409235	hsa-miR-498	CLIP-seq
MIRT1409206	hsa-miR-1976	CLIP-seq
MIRT2638166	hsa-miR-3126-3p	CLIP-seq
MIRT2122710	hsa-miR-3157-5p	CLIP-seq
MIRT1409211	hsa-miR-370	CLIP-seq
MIRT2122711	hsa-miR-3977	CLIP-seq
MIRT1409215	hsa-miR-4279	CLIP-seq
MIRT1409222	hsa-miR-4532	CLIP-seq
MIRT2466206	hsa-miR-4740-3p	CLIP-seq
MIRT1409235	hsa-miR-498	CLIP-seq
MIRT1409206	hsa-miR-1976	CLIP-seq
MIRT2122710	hsa-miR-3157-5p	CLIP-seq
MIRT1409211	hsa-miR-370	CLIP-seq
MIRT2122711	hsa-miR-3977	CLIP-seq
MIRT1409215	hsa-miR-4279	CLIP-seq
MIRT1409222	hsa-miR-4532	CLIP-seq
MIRT2466206	hsa-miR-4740-3p	CLIP-seq
MIRT1409235	hsa-miR-498	CLIP-seq

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Transcription factor	Regulation	Reference
NPM1	Activation	17069796

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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
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	IEA
GO:0006360	Process	Transcription by RNA polymerase I	IEA
GO:0006360	Process	Transcription by RNA polymerase I	TAS	7801123
GO:0006366	Process	Transcription by RNA polymerase II	TAS	7801123
GO:0015630	Component	Microtubule cytoskeleton	IDA

MIM	HGNC	e!Ensembl
604903	11532	ENSG00000143498

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

MSDFSEELKGPVTDDEEVETSVLSGAGMHFPWLQTYVETVAIGGKRRKDFAQTTSACLSF
IQEALLKHQWQQAAEYMYSYFQTLEDSDSYKRQAAPEIIWKLGSEILFYHPKSNMESFNT
FANRMKNIGVMNYLKISLQHALYLLHHGMLKDAKRNLSEAETWRHGENTSSREILINLIQ
AYKGLLQYYTWSEKKMELSKLDKDDYAYNAVAQDVFNHSWKTSANISALIKIPGVWDPFV
KSYVEMLEFYGDRDGAQEVLTNYAYDEKFPSNPNAHIYLYNFLKRQKAPRSKLISVLKIL
YQIVPSHKLMLEFHTLLRKSEKEEHRKLGLEVLFGVLDFAGCTKNITAWKYLAKYLKNIL
MGNHLAWVQEEWNSRKNWWPGFHFSYFWAKSDWKEDTALACEKAFVAGLLLGKGCRYFRY
ILKQDHQILGKKIKRMKRSVKKYSIVNPRL

Sequence length

450

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.
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, familial restrictive, 6	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (19)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	29510897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	39209150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	39209150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	28472305		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	BEFREE	27878435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	32522293	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	39209150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	28472305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	BEFREE	27878435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	39369230	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	28777933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33311601	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TAF1A (TATA-box binding protein associated factor, RNA polymerase I subunit A)