• Gene id: 2965

Gene Summary

• Gene Symbol: GTF2H1   Gene   UCSC   Ensembl
• Aliases: BTF2, P62, TFB1, TFIIH
• Gene name: general transcription factor IIH subunit 1
• Alternate names: general transcription factor IIH subunit 1, BTF2 p62, TFIIH basal transcription factor complex p62 subunit, basic transcription factor 2 62 kDa subunit, epididymis secretory sperm binding protein, general transcription factor IIH polypeptide 1, general transcri,
• Gene location: 11p15.1 (18322268: 18367044)     Exons: 18     NC_000011.10
• OMIM: 189972

Protein Summary

• Protein general information: P32780  
  • Name: General transcription factor IIH subunit 1 (Basic transcription factor 2 62 kDa subunit) (BTF2 p62) (General transcription factor IIH polypeptide 1) (TFIIH basal transcription factor complex p62 subunit)
  • Length: 548  
  • Mass: 62032
• Sequence:

  MATSSEEVLLIVKKVRQKKQDGALYLMAERIAWAPEGKDRFTISHMYADIKCQKISPEGKAKIQLQLVLHAGDTT
  NFHFSNESTAVKERDAVKDLLQQLLPKFKRKANKELEEKNRMLQEDPVLFQLYKDLVVSQVISAEEFWANRLNVN
  ATDSSSTSNHKQDVGISAAFLADVRPQTDGCNGLRYNLTSDIIESIFRTYPAVKMKYAENVPHNMTEKEFWTRFF
  QSHYFHRDRLNTGSKDLFAECAKIDEKGLKTMVSLGVKNPLLDLTALEDKPLDEGYGISSVPSASNSKSIKENSN
  AAIIKRFNHHSAMVLAAGLRKQEAQNEQTSEPSNMDGNSGDADCFQPAVKRAKLQESIEYEDLGKNNSVKTIALN
  LKKSDRYYHGPTPIQSLQYATSQDIINSFQSIRQEMEAYTPKLTQVLSSSAASSTITALSPGGALMQGGTQQAIN
  QMVPNDIQSELKHLYVAVGELLRHFWSCFPVNTPFLEEKVVKMKSNLERFQVTKLCPFQEKIRRQYLSTNLVSHI
  EEMLQTAYNKLHTWQSRRLMKKT

• Structural information:
  • Protein Domains: (99..15-)
    (/note="BSD-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00036-)
    (180..23-)
    (/note="BSD-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00036"-)
  • Interpro: IPR005607  IPR011993  IPR027079  IPR013876  
  • Prosite: PS50858
  • PDB: 1PFJ 2DII 2RNR 2RUK 2RVB 5GOW 5XV8 6NMI 6O9L 6O9M
  • PDBsum: 1PFJ 2DII 2RNR 2RUK 2RVB 5GOW 5XV8 6NMI 6O9L 6O9M
  • DIP: 708
  • STRING: ENSP00000265963
• Other Databases: GeneCards:  GTF2H1  Malacards:  GTF2H1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070816	phosphorylation of RNA polymerase II C-terminal domain	IBA	biological process
GO:0000439	transcription factor TFIIH core complex	IBA	cellular component
GO:0008353	RNA polymerase II CTD heptapeptide repeat kinase activity	IBA	contributes to
GO:0008094	DNA-dependent ATPase activity	IBA	contributes to
GO:0006366	transcription by RNA polymerase II	IBA	biological process
GO:0006360	transcription by RNA polymerase I	IBA	biological process
GO:0006281	DNA repair	IBA	biological process
GO:0005675	transcription factor TFIIH holo complex	IBA	cellular component
GO:0006366	transcription by RNA polymerase II	IDA	biological process
GO:0005675	transcription factor TFIIH holo complex	IDA	cellular component
GO:0006289	nucleotide-excision repair	IEA	biological process
GO:0000439	transcription factor TFIIH core complex	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	TAS	biological process
GO:0006281	DNA repair	TAS	biological process
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0033683	nucleotide-excision repair, DNA incision	TAS	biological process
GO:0000717	nucleotide-excision repair, DNA duplex unwinding	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006293	nucleotide-excision repair, preincision complex stabilization	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006295	nucleotide-excision repair, DNA incision, 3'-to lesion	TAS	biological process
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	TAS	biological process
GO:0006361	transcription initiation from RNA polymerase I promoter	TAS	biological process
GO:0006361	transcription initiation from RNA polymerase I promoter	TAS	biological process
GO:0006362	transcription elongation from RNA polymerase I promoter	TAS	biological process
GO:0006363	termination of RNA polymerase I transcription	TAS	biological process
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006370	7-methylguanosine mRNA capping	TAS	biological process
GO:0070911	global genome nucleotide-excision repair	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0005675	transcription factor TFIIH holo complex	IEA	cellular component
GO:0006366	transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0006366	transcription by RNA polymerase II	IDA	biological process
GO:0000439	transcription factor TFIIH core complex	IDA	cellular component
GO:0046966	thyroid hormone receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009755	hormone-mediated signaling pathway	NAS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05203	Viral carcinogenesis
hsa03022	Basal transcription factors
hsa03420	Nucleotide excision repair

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray