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Gtf2h1
Gene Detail
 Symbol
Name
ID
Gtf2h1
general transcription factor II H, polypeptide 1
MGI:1277216
Synonyms 62kDa, p62
Feature Type protein coding gene
Genetic Map
Chromosome 7
30.58 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr7:46796103-46823800 bp, + strand
From VEGA annotation of GRCm38

  27698 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3885  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

Gene Tree: Gtf2h1

Human
homologs
Human Homolog GTF2H1, general transcription factor IIH, polypeptide 1, 62kDa
NCBI Gene ID 2965
neXtProt AC  NX_P32780
Human Synonyms  BTF2, P62, TFB1, TFIIH
Human Chr (Location)  11p15.1-p14; chr11:18322269-18367043 (+)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(77) : Gene trapped(75) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
Interactions
Gtf2h1 interacts with 320 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process ATP catabolic process, cellular response to DNA damage stimulus, ...
Component core TFIIH complex, holo TFIIH complex, ...
Function DNA-dependent ATPase activity, protein kinase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (44)    Tissues (44)    Images (4)
Theiler Stages: 17, 21, 23, 28
Assay TypeResults
RNA in situ 44
cDNA source data(115)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(120) Genomic(5) cDNA(115)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000024398 (Evidence)
Ensembl Gene ModelENSMUSG00000006599 (Evidence)
Entrez Gene14884 (Evidence)
UniGene22700
DFCITC1575450, TC1593155, TC1634387, TC1663483, TC1714614
DoTSDT.101384776, DT.110994834, DT.493896, DT.523190, DT.87045347, DT.99843822
NIA Mouse Gene IndexU008109
Consensus CDS ProjectCCDS21287.1
International Mouse Knockout Project StatusGtf2h1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024398 VEGA Gene Model | MGI Sequence Detail 27698 C57BL/6J ±  kb
transcript OTTMUST00000059810 VEGA | MGI Sequence Detail 2187 Not Applicable 
polypeptide OTTMUSP00000029124 VEGA | MGI Sequence Detail 553 Not Applicable 

For the selected sequences
All sequences(59) RefSeq(6) UniProt(6)
Polymorphisms SNPs within 2kb(280 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR005607 BSD
InterPro IPR011993 Pleckstrin homology-like domain
InterPro IPR013876 TFIIH p62 subunit, N-terminal
InterPro IPR027079 TFIIH subunit Tfb1/p62
Protein Ontology PR:000008317 general transcription factor IIH subunit 1
References (Earliest) J:48344 Perez C, et al., Genomic organization and promoter characterization of the mouse and human genes encoding p62 subunit of the transcription/DNA repair factor TFIIH. Gene. 1998 Jun 15;213(1-2):73-82
(Latest) J:181994 Kamileri I, et al., Defective transcription initiation causes postnatal growth failure in a mouse model of nucleotide excision repair (NER) progeria. Proc Natl Acad Sci U S A. 2012 Feb 21;109(8):2995-3000
All references(40)
Other
accession IDs
MGI:2142275, MGI:2142277, MGI:2142323

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory