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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9044
Gene name	B-TFIID TATA-box binding protein associated factor 1
Gene symbol	BTAF1
Synonyms (NCBI Gene)	MOT1TAF(II)170TAF172TAFII170
Chromosome	10
Chromosome location	10q23.32
Summary	This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent

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Show/Hide all (189)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051248	hsa-miR-16-5p	CLASH	23622248
MIRT049156	hsa-miR-92a-3p	CLASH	23622248
MIRT047516	hsa-miR-10a-5p	CLASH	23622248
MIRT047143	hsa-miR-183-5p	CLASH	23622248
MIRT046538	hsa-miR-15b-5p	CLASH	23622248
MIRT041061	hsa-miR-505-3p	CLASH	23622248
MIRT826174	hsa-miR-101	CLIP-seq
MIRT826175	hsa-miR-144	CLIP-seq
MIRT826176	hsa-miR-15a	CLIP-seq
MIRT826177	hsa-miR-15b	CLIP-seq
MIRT826178	hsa-miR-16	CLIP-seq
MIRT826179	hsa-miR-195	CLIP-seq
MIRT826180	hsa-miR-203	CLIP-seq
MIRT826181	hsa-miR-2053	CLIP-seq
MIRT826182	hsa-miR-214	CLIP-seq
MIRT826183	hsa-miR-23a	CLIP-seq
MIRT826184	hsa-miR-23b	CLIP-seq
MIRT826185	hsa-miR-23c	CLIP-seq
MIRT826186	hsa-miR-3074-3p	CLIP-seq
MIRT826187	hsa-miR-3143	CLIP-seq
MIRT826188	hsa-miR-3194-5p	CLIP-seq
MIRT826189	hsa-miR-323b-5p	CLIP-seq
MIRT826190	hsa-miR-330-3p	CLIP-seq
MIRT826191	hsa-miR-338-5p	CLIP-seq
MIRT826192	hsa-miR-33a	CLIP-seq
MIRT826193	hsa-miR-33b	CLIP-seq
MIRT826194	hsa-miR-3591-5p	CLIP-seq
MIRT826195	hsa-miR-3619-5p	CLIP-seq
MIRT826196	hsa-miR-3653	CLIP-seq
MIRT826197	hsa-miR-3658	CLIP-seq
MIRT826198	hsa-miR-371-3p	CLIP-seq
MIRT826199	hsa-miR-371b-3p	CLIP-seq
MIRT826200	hsa-miR-374c	CLIP-seq
MIRT826201	hsa-miR-409-3p	CLIP-seq
MIRT826202	hsa-miR-424	CLIP-seq
MIRT826203	hsa-miR-4266	CLIP-seq
MIRT826204	hsa-miR-4291	CLIP-seq
MIRT826205	hsa-miR-4427	CLIP-seq
MIRT826206	hsa-miR-4435	CLIP-seq
MIRT826207	hsa-miR-4473	CLIP-seq
MIRT826208	hsa-miR-4501	CLIP-seq
MIRT826209	hsa-miR-4502	CLIP-seq
MIRT826210	hsa-miR-4504	CLIP-seq
MIRT826211	hsa-miR-4511	CLIP-seq
MIRT826212	hsa-miR-4524	CLIP-seq
MIRT826213	hsa-miR-4528	CLIP-seq
MIRT826214	hsa-miR-4539	CLIP-seq
MIRT826215	hsa-miR-4662a-3p	CLIP-seq
MIRT826216	hsa-miR-4671-3p	CLIP-seq
MIRT826217	hsa-miR-4691-3p	CLIP-seq
MIRT826218	hsa-miR-4695-5p	CLIP-seq
MIRT826219	hsa-miR-4719	CLIP-seq
MIRT826220	hsa-miR-4724-5p	CLIP-seq
MIRT826221	hsa-miR-4779	CLIP-seq
MIRT826222	hsa-miR-487a	CLIP-seq
MIRT826223	hsa-miR-490-3p	CLIP-seq
MIRT826224	hsa-miR-497	CLIP-seq
MIRT826225	hsa-miR-503	CLIP-seq
MIRT826226	hsa-miR-513a-3p	CLIP-seq
MIRT826227	hsa-miR-515-3p	CLIP-seq
MIRT826228	hsa-miR-519e	CLIP-seq
MIRT826229	hsa-miR-542-3p	CLIP-seq
MIRT826230	hsa-miR-543	CLIP-seq
MIRT826231	hsa-miR-548b-3p	CLIP-seq
MIRT826232	hsa-miR-548g	CLIP-seq
MIRT826233	hsa-miR-582-5p	CLIP-seq
MIRT826234	hsa-miR-584	CLIP-seq
MIRT826235	hsa-miR-606	CLIP-seq
MIRT826236	hsa-miR-628-5p	CLIP-seq
MIRT826237	hsa-miR-646	CLIP-seq
MIRT826238	hsa-miR-655	CLIP-seq
MIRT826239	hsa-miR-659	CLIP-seq
MIRT826240	hsa-miR-761	CLIP-seq
MIRT826241	hsa-miR-922	CLIP-seq
MIRT1545802	hsa-miR-3146	CLIP-seq
MIRT826201	hsa-miR-409-3p	CLIP-seq
MIRT1545803	hsa-miR-4464	CLIP-seq
MIRT1545804	hsa-miR-4748	CLIP-seq
MIRT826233	hsa-miR-582-5p	CLIP-seq
MIRT1944300	hsa-miR-1262	CLIP-seq
MIRT1944301	hsa-miR-1286	CLIP-seq
MIRT1944302	hsa-miR-197	CLIP-seq
MIRT1944303	hsa-miR-2110	CLIP-seq
MIRT826182	hsa-miR-214	CLIP-seq
MIRT826186	hsa-miR-3074-3p	CLIP-seq
MIRT1944304	hsa-miR-3150a-3p	CLIP-seq
MIRT1944305	hsa-miR-3189-3p	CLIP-seq
MIRT826189	hsa-miR-323b-5p	CLIP-seq
MIRT826195	hsa-miR-3619-5p	CLIP-seq
MIRT1944306	hsa-miR-3692	CLIP-seq
MIRT826204	hsa-miR-4291	CLIP-seq
MIRT1944307	hsa-miR-4450	CLIP-seq
MIRT826214	hsa-miR-4539	CLIP-seq
MIRT1944308	hsa-miR-4701-3p	CLIP-seq
MIRT1944309	hsa-miR-4722-5p	CLIP-seq
MIRT826220	hsa-miR-4724-5p	CLIP-seq
MIRT1944310	hsa-miR-486-5p	CLIP-seq
MIRT1944311	hsa-miR-548n	CLIP-seq
MIRT1944312	hsa-miR-548t	CLIP-seq
MIRT1944313	hsa-miR-556-3p	CLIP-seq
MIRT826240	hsa-miR-761	CLIP-seq
MIRT826241	hsa-miR-922	CLIP-seq
MIRT1944314	hsa-miR-944	CLIP-seq
MIRT826174	hsa-miR-101	CLIP-seq
MIRT1944300	hsa-miR-1262	CLIP-seq
MIRT1944301	hsa-miR-1286	CLIP-seq
MIRT826175	hsa-miR-144	CLIP-seq
MIRT1944302	hsa-miR-197	CLIP-seq
MIRT826180	hsa-miR-203	CLIP-seq
MIRT826181	hsa-miR-2053	CLIP-seq
MIRT2182830	hsa-miR-3201	CLIP-seq
MIRT826189	hsa-miR-323b-5p	CLIP-seq
MIRT826190	hsa-miR-330-3p	CLIP-seq
MIRT826203	hsa-miR-4266	CLIP-seq
MIRT826204	hsa-miR-4291	CLIP-seq
MIRT826209	hsa-miR-4502	CLIP-seq
MIRT826218	hsa-miR-4695-5p	CLIP-seq
MIRT1944308	hsa-miR-4701-3p	CLIP-seq
MIRT1944309	hsa-miR-4722-5p	CLIP-seq
MIRT826221	hsa-miR-4779	CLIP-seq
MIRT2182831	hsa-miR-4791	CLIP-seq
MIRT2182832	hsa-miR-490-5p	CLIP-seq
MIRT2182833	hsa-miR-548a-5p	CLIP-seq
MIRT2182834	hsa-miR-548ab	CLIP-seq
MIRT2182835	hsa-miR-548ak	CLIP-seq
MIRT2182836	hsa-miR-548b-5p	CLIP-seq
MIRT2182837	hsa-miR-548c-5p	CLIP-seq
MIRT2182838	hsa-miR-548d-5p	CLIP-seq
MIRT826232	hsa-miR-548g	CLIP-seq
MIRT2182839	hsa-miR-548h	CLIP-seq
MIRT2182840	hsa-miR-548i	CLIP-seq
MIRT2182841	hsa-miR-548j	CLIP-seq
MIRT2182842	hsa-miR-548k	CLIP-seq
MIRT2182843	hsa-miR-548l	CLIP-seq
MIRT1944311	hsa-miR-548n	CLIP-seq
MIRT1944312	hsa-miR-548t	CLIP-seq
MIRT2182844	hsa-miR-548w	CLIP-seq
MIRT2182845	hsa-miR-548y	CLIP-seq
MIRT2182846	hsa-miR-559	CLIP-seq
MIRT826233	hsa-miR-582-5p	CLIP-seq
MIRT826234	hsa-miR-584	CLIP-seq
MIRT826189	hsa-miR-323b-5p	CLIP-seq
MIRT2486458	hsa-miR-149	CLIP-seq
MIRT2486459	hsa-miR-1911	CLIP-seq
MIRT1944303	hsa-miR-2110	CLIP-seq
MIRT2486460	hsa-miR-300	CLIP-seq
MIRT2486461	hsa-miR-3064-5p	CLIP-seq
MIRT2486462	hsa-miR-3126-3p	CLIP-seq
MIRT1944304	hsa-miR-3150a-3p	CLIP-seq
MIRT1944305	hsa-miR-3189-3p	CLIP-seq
MIRT826188	hsa-miR-3194-5p	CLIP-seq
MIRT2486463	hsa-miR-3609	CLIP-seq
MIRT2486464	hsa-miR-381	CLIP-seq
MIRT2486465	hsa-miR-4263	CLIP-seq
MIRT826203	hsa-miR-4266	CLIP-seq
MIRT2486466	hsa-miR-4432	CLIP-seq
MIRT826206	hsa-miR-4435	CLIP-seq
MIRT1944307	hsa-miR-4450	CLIP-seq
MIRT2486467	hsa-miR-4461	CLIP-seq
MIRT2486468	hsa-miR-4499	CLIP-seq
MIRT2486469	hsa-miR-4513	CLIP-seq
MIRT826213	hsa-miR-4528	CLIP-seq
MIRT826215	hsa-miR-4662a-3p	CLIP-seq
MIRT2486470	hsa-miR-4666-3p	CLIP-seq
MIRT826217	hsa-miR-4691-3p	CLIP-seq
MIRT826218	hsa-miR-4695-5p	CLIP-seq
MIRT2486471	hsa-miR-4744	CLIP-seq
MIRT826221	hsa-miR-4779	CLIP-seq
MIRT2486472	hsa-miR-4794	CLIP-seq
MIRT1944310	hsa-miR-486-5p	CLIP-seq
MIRT826222	hsa-miR-487a	CLIP-seq
MIRT2486473	hsa-miR-487b	CLIP-seq
MIRT2486474	hsa-miR-499-5p	CLIP-seq
MIRT2486475	hsa-miR-520d-5p	CLIP-seq
MIRT2486476	hsa-miR-520g	CLIP-seq
MIRT2486477	hsa-miR-520h	CLIP-seq
MIRT2486478	hsa-miR-524-5p	CLIP-seq
MIRT2486479	hsa-miR-548ah	CLIP-seq
MIRT1944313	hsa-miR-556-3p	CLIP-seq
MIRT1944303	hsa-miR-2110	CLIP-seq
MIRT1944304	hsa-miR-3150a-3p	CLIP-seq
MIRT1944305	hsa-miR-3189-3p	CLIP-seq
MIRT826188	hsa-miR-3194-5p	CLIP-seq
MIRT826206	hsa-miR-4435	CLIP-seq
MIRT1944307	hsa-miR-4450	CLIP-seq
MIRT826213	hsa-miR-4528	CLIP-seq
MIRT826217	hsa-miR-4691-3p	CLIP-seq
MIRT1944310	hsa-miR-486-5p	CLIP-seq
MIRT1944313	hsa-miR-556-3p	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003712	Function	Transcription coregulator activity	IDA	9488487
GO:0004386	Function	Helicase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0008094	Function	ATP-dependent activity, acting on DNA	IDA	9488487
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0017025	Function	TBP-class protein binding	IEA
GO:0035562	Process	Negative regulation of chromatin binding	IMP	23361013
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	9488487

MIM	HGNC	e!Ensembl
605191	17307	ENSG00000095564

O14981

Protein name

TATA-binding protein-associated factor 172 (EC 3.6.4.-) (ATP-dependent helicase BTAF1) (B-TFIID transcription factor-associated 170 kDa subunit) (TAF(II)170) (TBP-associated factor 172) (TAF-172)

Protein function

Regulates transcription in association with TATA binding protein (TBP). Removes TBP from the TATA box in an ATP-dependent manner.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12054	DUF3535	586 → 1052	Domain of unknown function (DUF3535)	Family
PF00176	SNF2_N	1269 → 1585	SNF2 family N-terminal domain	Family
PF00271	Helicase_C	1615 → 1744	Helicase conserved C-terminal domain	Family

Sequence

MAVSRLDRLFILLDTGTTPVTRKAAAQQLGEVVKLHPHELNNLLSKVLIYLRSANWDTRI
AAGQAVEAIVKNVPEWNPVPRTRQEPTSESSMEDSPTTERLNFDRFDICRLLQHGASLLG
SAGAEFEVQDEKSGEVDPKERIARQRKLLQKKLGLNMGEAIGMSTEELFNDEDLDYTPTS
ASFVNKQPTLQAAELIDSEFRAGMSNRQKNKAKRMAKLFAKQRSRDAVETNEKSNDSTDG
EPEEKRRKIANVVINQSANDSKVLIDNIPDSSSLIEETNEWPLESFCEELCNDLFNPSWE
VRHGAGTGLREILKAHGKSGGKMGDSTLEEMIQQHQEWLEDLVIRLLCVFALDRFGDFVS
DEVVAPVRETCAQTLGVVLKHMNETGVHKTVDVLLKLLTQEQWEVRHGGLLGIKYALAVR
QDVINTLLPKVLTRIIEGLQDLDDDVRAVAAASLVPVVESLVYLQTQKVPFIINTLWDAL
LELDDLTASTNSIMTLLSSLLTYPQVQQCSIQQSLTVLVPRVWPFLHHTISSVRRAALET
LFTLLSTQDQNSSSWLIPILPDMLRHIFQFCVLESSQEILDLIHKVWMELLSKASVQYVV
AAACPWMGAWLCLMMQPSHLPIDLNMLLEVKARAKEKTGGKVRQGQSQNKEVLQEYIAGA
DTIMEDPATRDFVVMRARMMAAKLLGALCCCICDPGVNVVTQEIKPAESLGQLLLFHLNS
KSALQRISVALVICEWAALQKECKAVTLAVQPRLLDILSEHLYYDEIAVPFTRMQNECKQ
LISSLADVHIEVGNRVNNNVLTIDQASDLVTTVFNEATSSFDLNPQVLQQLDSKRQQVQM
TVTETNQEWQVLQLRVHTFAACAVVSLQQLPEKLNPIIKPLMETIKKEENTLVQNYAAQC
IAKLLQQCTTRTPCPNSKIIKNLCSSLCVDPYLTPCVTCPVPTQSGQENSKGSTSEKDGM
HHTVTKHRGIITLYRHQKAAFAITSRRGPTPKAVKAQIADLPAGSSGNILVELDEAQKPY
LVQRRGAEFALTTIVKHFGGEMAVKLPHLWDAMVGPLRNTIDINNFDGKSLLDKGDSPAQ
ELVNSLQVFETAAASMDSELHPLLVQHLPHLYMCLQYPSTAVRHMAARCVGVMSKIATME
TMNIFLEKVLPWLGAIDDSVKQEGAIEALACVMEQLDVGIVPYIVLLVVPVLGRMSDQTD
SVRFMATQCFATLIRLMPLEAGIPDPPNMSAELIQLKAKERHFLEQLLDGKKLENYKIPV
PINAELRKYQQDGVNWLAFLNKYKLHGILCDDMGLGKTLQSICILAGDHCHRAQEYARSK
LAECMPLPSLVVCPPTLTGHWVDEVGKFCSREYLNPLHYTGPPTERIRLQHQVKRHNLIV
ASYDVVRNDIDFFRNIKFNYCILDEGHVIKNGKTKLSKAVKQLTANYRIILSGTPIQNNV
LELWSLFDFLMPGFLGTERQFAARYGKPILASRDARSSSREQEAGVLAMDALHRQVLPFL
LRRMKEDVLQDLPPKIIQDYYCTLSPLQVQLYEDFAKSRAKCDVDETVSSATLSEETEKP
KLKATGHVFQALQYLRKLCNHPALVLTPQHPEFKTTAEKLAVQNSSLHDIQHAPKLSALK
QLLLDCGLGNGSTSESGTESVVAQHRILIFCQLKSMLDIVEHDLLKPHLPSVTYLRLDGS
IPPGQRHSIVSRFNNDPSIDVLLLTTHVGGLGLNLTGADTVVFVEHDWNPMRDLQAMDRA
HRIGQKRVVNVYRLITRGTLEEKIMGLQKFKMNIANTVISQENSSLQSMGTDQLLDLFTL
DKDGKAEKADTSTSGKASMKSILENLSDLWDQEQYDSEYSLENFMHSLK

Sequence length

1849

Interactions

View interactions

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 (22)

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.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BTAF1-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinogenesis	Carcinogenesis	Pubtator	25645922	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29799805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29799805	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

BTAF1 (B-TFIID TATA-box binding protein associated factor 1)