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GTF2H1 (general transcription factor IIH subunit 1)

Identity

Alias_namesgeneral transcription factor IIH, polypeptide 1 (62kD subunit)
general transcription factor IIH, polypeptide 1, 62kDa
Alias_symbol (synonym)BTF2
P62
TFIIH
Other aliasTFB1
HGNC (Hugo) GTF2H1
LocusID (NCBI) 2965
Atlas_Id 40778
Location 11p15.1  [Link to chromosome band 11p15]
Location_base_pair Starts at 18322269 and ends at 18367043 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GAREM () / GTF2H1 (11p15.1)GAREM1 (18q12.1) / GTF2H1 (11p15.1)GTF2H1 (11p15.1) / HPS5 (11p15.1)
TNPO1 (5q13.2) / GTF2H1 (11p15.1)FAM59A GTF2H1 11p15.1GTF2H1 11p15.1 / HPS5 11p15.1
TNPO1 5q13.2 / GTF2H1 11p15.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GTF2H1   4655
Cards
Entrez_Gene (NCBI)GTF2H1  2965  general transcription factor IIH subunit 1
AliasesBTF2; P62; TFB1; TFIIH
GeneCards (Weizmann)GTF2H1
Ensembl hg19 (Hinxton)ENSG00000110768 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000110768 [Gene_View]  chr11:18322269-18367043 [Contig_View]  GTF2H1 [Vega]
ICGC DataPortalENSG00000110768
TCGA cBioPortalGTF2H1
AceView (NCBI)GTF2H1
Genatlas (Paris)GTF2H1
WikiGenes2965
SOURCE (Princeton)GTF2H1
Genetics Home Reference (NIH)GTF2H1
Genomic and cartography
GoldenPath hg38 (UCSC)GTF2H1  -     chr11:18322269-18367043 +  11p15.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GTF2H1  -     11p15.1   [Description]    (hg19-Feb_2009)
EnsemblGTF2H1 - 11p15.1 [CytoView hg19]  GTF2H1 - 11p15.1 [CytoView hg38]
Mapping of homologs : NCBIGTF2H1 [Mapview hg19]  GTF2H1 [Mapview hg38]
OMIM189972   
Gene and transcription
Genbank (Entrez)AI275181 AK027003 AK127204 AK299621 AK299730
RefSeq transcript (Entrez)NM_001142307 NM_005316
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GTF2H1
Cluster EST : UnigeneHs.577202 [ NCBI ]
CGAP (NCI)Hs.577202
Alternative Splicing GalleryENSG00000110768
Gene ExpressionGTF2H1 [ NCBI-GEO ]   GTF2H1 [ EBI - ARRAY_EXPRESS ]   GTF2H1 [ SEEK ]   GTF2H1 [ MEM ]
Gene Expression Viewer (FireBrowse)GTF2H1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2965
GTEX Portal (Tissue expression)GTF2H1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP32780   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP32780  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP32780
Splice isoforms : SwissVarP32780
PhosPhoSitePlusP32780
Domaine pattern : Prosite (Expaxy)BSD (PS50858)   
Domains : Interpro (EBI)BSD_dom    PH_dom-like    Tfb1/p62    TFIIH_BTF_p62_N   
Domain families : Pfam (Sanger)BSD (PF03909)    PH_TFIIH (PF08567)   
Domain families : Pfam (NCBI)pfam03909    pfam08567   
Domain families : Smart (EMBL)BSD (SM00751)  
Conserved Domain (NCBI)GTF2H1
DMDM Disease mutations2965
Blocks (Seattle)GTF2H1
PDB (SRS)1PFJ    2DII    2RNR    2RUK    2RVB    5GOW   
PDB (PDBSum)1PFJ    2DII    2RNR    2RUK    2RVB    5GOW   
PDB (IMB)1PFJ    2DII    2RNR    2RUK    2RVB    5GOW   
PDB (RSDB)1PFJ    2DII    2RNR    2RUK    2RVB    5GOW   
Structural Biology KnowledgeBase1PFJ    2DII    2RNR    2RUK    2RVB    5GOW   
SCOP (Structural Classification of Proteins)1PFJ    2DII    2RNR    2RUK    2RVB    5GOW   
CATH (Classification of proteins structures)1PFJ    2DII    2RNR    2RUK    2RVB    5GOW   
SuperfamilyP32780
Human Protein AtlasENSG00000110768
Peptide AtlasP32780
HPRD01807
IPIIPI00030380   IPI00908648   IPI00976467   IPI01025365   IPI00977011   IPI00983928   IPI01011880   
Protein Interaction databases
DIP (DOE-UCLA)P32780
IntAct (EBI)P32780
FunCoupENSG00000110768
BioGRIDGTF2H1
STRING (EMBL)GTF2H1
ZODIACGTF2H1
Ontologies - Pathways
QuickGOP32780
Ontology : AmiGOregulation of cyclin-dependent protein serine/threonine kinase activity  core TFIIH complex  nucleotide-excision repair, DNA duplex unwinding  chromatin binding  protein kinase activity  protein binding  nucleoplasm  nucleoplasm  holo TFIIH complex  DNA repair  transcription-coupled nucleotide-excision repair  nucleotide-excision repair, preincision complex stabilization  nucleotide-excision repair, preincision complex assembly  nucleotide-excision repair, DNA incision, 3'-to lesion  nucleotide-excision repair, DNA incision, 5'-to lesion  transcription from RNA polymerase I promoter  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  DNA-dependent ATPase activity  RNA polymerase II carboxy-terminal domain kinase activity  nucleotide-excision repair, DNA incision  positive regulation of transcription from RNA polymerase II promoter  phosphorylation of RNA polymerase II C-terminal domain  global genome nucleotide-excision repair  
Ontology : EGO-EBIregulation of cyclin-dependent protein serine/threonine kinase activity  core TFIIH complex  nucleotide-excision repair, DNA duplex unwinding  chromatin binding  protein kinase activity  protein binding  nucleoplasm  nucleoplasm  holo TFIIH complex  DNA repair  transcription-coupled nucleotide-excision repair  nucleotide-excision repair, preincision complex stabilization  nucleotide-excision repair, preincision complex assembly  nucleotide-excision repair, DNA incision, 3'-to lesion  nucleotide-excision repair, DNA incision, 5'-to lesion  transcription from RNA polymerase I promoter  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  DNA-dependent ATPase activity  RNA polymerase II carboxy-terminal domain kinase activity  nucleotide-excision repair, DNA incision  positive regulation of transcription from RNA polymerase II promoter  phosphorylation of RNA polymerase II C-terminal domain  global genome nucleotide-excision repair  
Pathways : KEGGBasal transcription factors    Nucleotide excision repair    Viral carcinogenesis   
NDEx NetworkGTF2H1
Atlas of Cancer Signalling NetworkGTF2H1
Wikipedia pathwaysGTF2H1
Orthology - Evolution
OrthoDB2965
GeneTree (enSembl)ENSG00000110768
Phylogenetic Trees/Animal Genes : TreeFamGTF2H1
HOVERGENP32780
HOGENOMP32780
Homologs : HomoloGeneGTF2H1
Homology/Alignments : Family Browser (UCSC)GTF2H1
Gene fusions - Rearrangements
Fusion : MitelmanGAREM/GTF2H1 [18q12.1/11p15.1]  [t(11;18)(p15;q12)]  
Fusion : MitelmanGTF2H1/HPS5 [11p15.1/11p15.1]  [t(11;11)(p15;p15)]  
Fusion : MitelmanTNPO1/GTF2H1 [5q13.2/11p15.1]  [t(5;11)(q13;p15)]  
Fusion: TCGAFAM59A GTF2H1 11p15.1 BRCA
Fusion: TCGAGTF2H1 11p15.1 HPS5 11p15.1 BRCA
Fusion: TCGATNPO1 5q13.2 GTF2H1 11p15.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGTF2H1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GTF2H1
dbVarGTF2H1
ClinVarGTF2H1
1000_GenomesGTF2H1 
Exome Variant ServerGTF2H1
ExAC (Exome Aggregation Consortium)GTF2H1 (select the gene name)
Genetic variants : HAPMAP2965
Genomic Variants (DGV)GTF2H1 [DGVbeta]
DECIPHERGTF2H1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGTF2H1 
Mutations
ICGC Data PortalGTF2H1 
TCGA Data PortalGTF2H1 
Broad Tumor PortalGTF2H1
OASIS PortalGTF2H1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGTF2H1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGTF2H1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GTF2H1
DgiDB (Drug Gene Interaction Database)GTF2H1
DoCM (Curated mutations)GTF2H1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GTF2H1 (select a term)
intoGenGTF2H1
Cancer3DGTF2H1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM189972   
Orphanet
MedgenGTF2H1
Genetic Testing Registry GTF2H1
NextProtP32780 [Medical]
TSGene2965
GENETestsGTF2H1
Huge Navigator GTF2H1 [HugePedia]
snp3D : Map Gene to Disease2965
BioCentury BCIQGTF2H1
ClinGenGTF2H1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2965
Chemical/Pharm GKB GenePA29041
Clinical trialGTF2H1
Miscellaneous
canSAR (ICR)GTF2H1 (select the gene name)
Probes
Litterature
PubMed115 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGTF2H1
EVEXGTF2H1
GoPubMedGTF2H1
iHOPGTF2H1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:18:10 CEST 2017

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