Entity Details

Primary name TF2H5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6ZYL4
EntryNameTF2H5_HUMAN
FullNameGeneral transcription factor IIH subunit 5
TaxID9606
Evidenceevidence at protein level
Length71
SequenceStatuscomplete
DateCreated2005-06-07
DateModified2021-06-02

Ontological Relatives

GenesGTF2H5

GO terms

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GOName
GO:0000439 transcription factor TFIIH core complex
GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
GO:0000717 nucleotide-excision repair, DNA duplex unwinding
GO:0005654 nucleoplasm
GO:0005669 transcription factor TFIID complex
GO:0005675 transcription factor TFIIH holo complex
GO:0005730 nucleolus
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006289 nucleotide-excision repair
GO:0006293 nucleotide-excision repair, preincision complex stabilization
GO:0006294 nucleotide-excision repair, preincision complex assembly
GO:0006295 nucleotide-excision repair, DNA incision, 3'-to lesion
GO:0006296 nucleotide-excision repair, DNA incision, 5'-to lesion
GO:0006361 transcription initiation from RNA polymerase I promoter
GO:0006362 transcription elongation from RNA polymerase I promoter
GO:0006363 termination of RNA polymerase I transcription
GO:0006366 transcription by RNA polymerase II
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0006370 7-methylguanosine mRNA capping
GO:0033683 nucleotide-excision repair, DNA incision
GO:0070816 phosphorylation of RNA polymerase II C-terminal domain
GO:0070911 global genome nucleotide-excision repair
GO:0071480 cellular response to gamma radiation

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR009400 TFIIH subunit TTDA/Tfb5FamilyFamily
IPR035935 TFB5-like superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
616395 OMIMTrichothiodystrophy 3, photosensitive (TTD3)A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. The disease is caused by variants affecting the gene represented in this entry.