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Gene id 404672
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol GTF2H5   Gene   UCSC   Ensembl
Aliases C6orf175, TFB5, TFIIH, TGF2H5, TTD, TTD-A, TTD3, TTDA, bA120J8.2
Gene name general transcription factor IIH subunit 5
Alternate names general transcription factor IIH subunit 5, TFB5 ortholog, TFIIH basal transcription factor complex TTD-A subunit, TFIIH basal transcription factor complex TTDA subunit, general transcription factor IIH, polypeptide 5,
Gene location 6q25.3 (158168315: 158199343)     Exons: 3     NC_000006.12
Gene summary(Entrez) This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular le
OMIM 605220

Protein Summary
Protein general information Q6ZYL4  

Name: General transcription factor IIH subunit 5 (General transcription factor IIH polypeptide 5) (TFB5 ortholog) (TFIIH basal transcription factor complex TTD A subunit)

Length: 71  Mass: 8053

Sequence MVNVLKGVLIECDPAMKQFLLYLDESNALGKKFIIQDIDDTHVFVIAELVNVLQERVGELMDQNAFSLTQK
Structural information
Interpro:  IPR035935  IPR009400  

PDB:  		 1YDL 2JNJ 5IVW 5IY6 5IY7 5IY8 5IY9 5OF4 6NMI 6O9L 6O9M 6RO4
PDBsum:   1YDL 2JNJ 5IVW 5IY6 5IY7 5IY8 5IY9 5OF4 6NMI 6O9L 6O9M 6RO4

DIP:  
29188
STRING:   ENSP00000476100
Other Databases GeneCards:  GTF2H5  Malacards:  GTF2H5

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0005669 transcription factor TFII
D complex
 IBA cellular component
GO:0005675 transcription factor TFII
H holo complex
 IBA cellular component
GO:0006289 nucleotide-excision repai
r
 IBA biological process
GO:0006294 nucleotide-excision repai
r, preincision complex as
sembly
 IBA biological process
GO:0006366 transcription by RNA poly
merase II
 IBA biological process
GO:0000439 transcription factor TFII
H core complex
 IBA cellular component
GO:0070816 phosphorylation of RNA po
lymerase II C-terminal do
main
 IBA biological process
GO:0005669 transcription factor TFII
D complex
 IDA cellular component
GO:0006289 nucleotide-excision repai
r
 IEA biological process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 IEA biological process
GO:0000439 transcription factor TFII
H core complex
 IEA cellular component
GO:0006281 DNA repair
 IEA biological process
GO:0005634 nucleus
 IEA cellular component
GO:0006974 cellular response to DNA
damage stimulus
 IEA biological process
GO:0005730 nucleolus
 IDA cellular component
GO:0006289 nucleotide-excision repai
r
 IMP biological process
GO:0006283 transcription-coupled nuc
leotide-excision repair
 TAS biological process
GO:0006368 transcription elongation
from RNA polymerase II pr
omoter
 TAS biological process
GO:0006368 transcription elongation
from RNA polymerase II pr
omoter
 TAS biological process
GO:0006368 transcription elongation
from RNA polymerase II pr
omoter
 TAS biological process
GO:0033683 nucleotide-excision repai
r, DNA incision
 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:0006293 nucleotide-excision repai
r, preincision complex st
abilization
 TAS biological process
GO:0006294 nucleotide-excision repai
r, preincision complex as
sembly
 TAS biological process
GO:0006294 nucleotide-excision repai
r, preincision complex as
sembly
 TAS biological process
GO:0006294 nucleotide-excision repai
r, preincision complex as
sembly
 TAS biological process
GO:0006295 nucleotide-excision repai
r, DNA incision, 3'-to le
sion
 TAS biological process
GO:0006296 nucleotide-excision repai
r, DNA incision, 5'-to le
sion
 TAS biological process
GO:0006361 transcription initiation
from RNA polymerase I pro
moter
 TAS biological process
GO:0006361 transcription initiation
from RNA polymerase I pro
moter
 TAS biological process
GO:0006362 transcription elongation
from RNA polymerase I pro
moter
 TAS biological process
GO:0006363 termination of RNA polyme
rase I transcription
 TAS biological process
GO:0006366 transcription by RNA poly
merase II
 TAS biological process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological process
GO:0006370 7-methylguanosine mRNA ca
pping
 TAS biological process
GO:0070911 global genome nucleotide-
excision repair
 TAS biological process
GO:0000717 nucleotide-excision repai
r, 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: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: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:0071480 cellular response to gamm
a radiation
 IEA biological process
GO:0006362 transcription elongation
from RNA polymerase I pro
moter
 IEA biological process
GO:0006294 nucleotide-excision repai
r, preincision complex as
sembly
 IEA biological process
GO:0006289 nucleotide-excision repai
r
 IEA biological process
GO:0000462 maturation of SSU-rRNA fr
om tricistronic rRNA tran
script (SSU-rRNA, 5.8S rR
NA, LSU-rRNA)
 IEA biological process
GO:0005634 nucleus
 IEA cellular component

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa03022Basal transcription factors
hsa03420Nucleotide excision repair

Diseases

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Associated diseases References
Disorders of nucleotide excision repair KEGG:H00403
Trichothiodystrophy KEGG:H00866
Disorders of nucleotide excision repair KEGG:H00403
Trichothiodystrophy KEGG:H00866
Unexplained infertility MIK: 25753583

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25753583 Unexplaine
d infertil
ity
46 (17 fertile
men, 29 male pa
tients)
 Male infertility Microarray
 Show abstract