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Q6ZYL4

- TF2H5_HUMAN

UniProt

Q6ZYL4 - TF2H5_HUMAN

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Protein

General transcription factor IIH subunit 5

Gene

GTF2H5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Component of the TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell.1 Publication

GO - Molecular functioni

  1. rDNA binding Source: Ensembl

GO - Biological processi

  1. cellular response to gamma radiation Source: Ensembl
  2. nucleotide-excision repair Source: MGI
  3. nucleotide-excision repair, preincision complex assembly Source: Ensembl
  4. regulation of transcription, DNA-templated Source: UniProtKB-KW
  5. rRNA processing Source: Ensembl
  6. transcription elongation from RNA polymerase I promoter Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA repair, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
General transcription factor IIH subunit 5
Alternative name(s):
General transcription factor IIH polypeptide 5
TFB5 ortholog
TFIIH basal transcription factor complex TTD-A subunit
Gene namesi
Name:GTF2H5
Synonyms:C6orf175, TTDA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:21157. GTF2H5.

Subcellular locationi

Nucleus 1 Publication

GO - Cellular componenti

  1. core TFIIH complex Source: InterPro
  2. nucleolus Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Trichothiodystrophy photosensitive (TTDP) [MIM:601675]: TTDP is an autosomal recessive disease characterized by sulfur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual development, abnormal facies and cutaneous photosensitivity correlated with a nucleotide excision repair (NER) defect. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane. The severity of the ichthyosis after the membrane is shed is variable, ranging from a mild to severe lamellar ichthyotic phenotype. There are no reports of skin cancer associated with TTDP.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti21 – 211L → P in TTDP. 1 Publication
VAR_022647

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

MIMi601675. phenotype.
Orphaneti33364. Trichothiodystrophy.
PharmGKBiPA134962077.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 7171General transcription factor IIH subunit 5PRO_0000119256Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei69 – 691Phosphothreonine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ6ZYL4.
PaxDbiQ6ZYL4.
PRIDEiQ6ZYL4.

PTM databases

PhosphoSiteiQ6ZYL4.

Expressioni

Gene expression databases

BgeeiQ6ZYL4.
CleanExiHS_GTF2H5.
GenevestigatoriQ6ZYL4.

Organism-specific databases

HPAiCAB037029.
CAB037042.

Interactioni

Subunit structurei

Subunit of the TFIIH basal transcription factor complex that contains ERCC2, ERCC3, GTF2H1, GTF2H2, GTF2H3, GTF2H4, GTF2H5, MNAT1, CDK7 and CCNH.

Protein-protein interaction databases

BioGridi135676. 4 interactions.
DIPiDIP-29188N.
IntActiQ6ZYL4. 1 interaction.
STRINGi9606.ENSP00000356067.

Structurei

Secondary structure

1
71
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi8 – 114Combined sources
Helixi14 – 2512Combined sources
Turni26 – 294Combined sources
Beta strandi34 – 374Combined sources
Beta strandi39 – 457Combined sources
Helixi49 – 5911Combined sources
Turni60 – 623Combined sources
Turni65 – 706Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1YDLX-ray2.30A3-71[»]
2JNJNMR-A/B1-71[»]
ProteinModelPortaliQ6ZYL4.
SMRiQ6ZYL4. Positions 1-71.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ6ZYL4.

Family & Domainsi

Sequence similaritiesi

Belongs to the TFB5 family.Curated

Phylogenomic databases

eggNOGiNOG278168.
GeneTreeiENSGT00390000004028.
HOVERGENiHBG055393.
InParanoidiQ6ZYL4.
KOiK10845.
OMAiKDLDDTH.
OrthoDBiEOG7BGHPM.
PhylomeDBiQ6ZYL4.
TreeFamiTF319487.

Family and domain databases

Gene3Di3.30.70.1220. 1 hit.
InterProiIPR009400. TFIIH_TTDA/Tfb5.
[Graphical view]
PfamiPF06331. Tbf5. 1 hit.
[Graphical view]
SUPFAMiSSF142897. SSF142897. 1 hit.

Sequencei

Sequence statusi: Complete.

Q6ZYL4-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MVNVLKGVLI ECDPAMKQFL LYLDESNALG KKFIIQDIDD THVFVIAELV
60 70
NVLQERVGEL MDQNAFSLTQ K
Length:71
Mass (Da):8,053
Last modified:July 5, 2004 - v1
Checksum:iDBEB4D3C9BFA2C54
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti21 – 211L → P in TTDP. 1 Publication
VAR_022647

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ634743 mRNA. Translation: CAG25512.1.
AL590703 Genomic DNA. Translation: CAH70241.1.
BC056906 mRNA. Translation: AAH56906.1.
BC060317 mRNA. Translation: AAH60317.1.
CCDSiCCDS5256.1.
RefSeqiNP_997001.1. NM_207118.2.
UniGeneiHs.356224.

Genome annotation databases

EnsembliENST00000607778; ENSP00000476100; ENSG00000272047.
GeneIDi404672.
KEGGihsa:404672.
UCSCiuc003qrd.3. human.

Polymorphism databases

DMDMi67462047.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ634743 mRNA. Translation: CAG25512.1 .
AL590703 Genomic DNA. Translation: CAH70241.1 .
BC056906 mRNA. Translation: AAH56906.1 .
BC060317 mRNA. Translation: AAH60317.1 .
CCDSi CCDS5256.1.
RefSeqi NP_997001.1. NM_207118.2.
UniGenei Hs.356224.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1YDL X-ray 2.30 A 3-71 [» ]
2JNJ NMR - A/B 1-71 [» ]
ProteinModelPortali Q6ZYL4.
SMRi Q6ZYL4. Positions 1-71.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 135676. 4 interactions.
DIPi DIP-29188N.
IntActi Q6ZYL4. 1 interaction.
STRINGi 9606.ENSP00000356067.

PTM databases

PhosphoSitei Q6ZYL4.

Polymorphism databases

DMDMi 67462047.

Proteomic databases

MaxQBi Q6ZYL4.
PaxDbi Q6ZYL4.
PRIDEi Q6ZYL4.

Protocols and materials databases

DNASUi 404672.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000607778 ; ENSP00000476100 ; ENSG00000272047 .
GeneIDi 404672.
KEGGi hsa:404672.
UCSCi uc003qrd.3. human.

Organism-specific databases

CTDi 404672.
GeneCardsi GC06P158509.
HGNCi HGNC:21157. GTF2H5.
HPAi CAB037029.
CAB037042.
MIMi 601675. phenotype.
608780. gene.
neXtProti NX_Q6ZYL4.
Orphaneti 33364. Trichothiodystrophy.
PharmGKBi PA134962077.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG278168.
GeneTreei ENSGT00390000004028.
HOVERGENi HBG055393.
InParanoidi Q6ZYL4.
KOi K10845.
OMAi KDLDDTH.
OrthoDBi EOG7BGHPM.
PhylomeDBi Q6ZYL4.
TreeFami TF319487.

Miscellaneous databases

EvolutionaryTracei Q6ZYL4.
GeneWikii GTF2H5.
GenomeRNAii 404672.
NextBioi 107889.
PROi Q6ZYL4.
SOURCEi Search...

Gene expression databases

Bgeei Q6ZYL4.
CleanExi HS_GTF2H5.
Genevestigatori Q6ZYL4.

Family and domain databases

Gene3Di 3.30.70.1220. 1 hit.
InterProi IPR009400. TFIIH_TTDA/Tfb5.
[Graphical view ]
Pfami PF06331. Tbf5. 1 hit.
[Graphical view ]
SUPFAMi SSF142897. SSF142897. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A and stabilizes TFIIH."
    Giglia-Mari G., Coin F., Ranish J.A., Hoogstraten D., Theil A., Wijgers N., Jaspers N.G.J., Raams A., Argentini M., van der Spek P.J., Botta E., Stefanini M., Egly J.-M., Aebersold R., Hoeijmakers J.H.J., Vermeulen W.
    Nat. Genet. 36:714-719(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT PRO-21, IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION, FUNCTION, INTERACTION WITH THE TFIIH COMPLEX.
    Tissue: Fibroblast.
  2. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Adrenal cortex and Liver.
  4. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-69, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Embryonic kidney.
  5. "Crystal structure of the human TFIIH."
    Northeast structural genomics consortium (NESG)
    Submitted (FEB-2005) to the PDB data bank
    Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 6-71.

Entry informationi

Entry nameiTF2H5_HUMAN
AccessioniPrimary (citable) accession number: Q6ZYL4
Secondary accession number(s): Q0P5V8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 7, 2005
Last sequence update: July 5, 2004
Last modified: November 26, 2014
This is version 108 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3