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Q6ZYL4 (TF2H5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:GTF2H5
Synonyms:C6orf175, TTDA
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length71 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1

Subunit structure

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

Subcellular location

Nucleus Ref.1.

Involvement in disease

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.

Sequence similarities

Belongs to the TFB5 family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 7171General transcription factor IIH subunit 5
PRO_0000119256

Amino acid modifications

Modified residue691Phosphothreonine Ref.4

Natural variations

Natural variant211L → P in TTDP. Ref.1
VAR_022647

Secondary structure

............... 71
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q6ZYL4 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: DBEB4D3C9BFA2C54

FASTA718,053
        10         20         30         40         50         60 
MVNVLKGVLI ECDPAMKQFL LYLDESNALG KKFIIQDIDD THVFVIAELV NVLQERVGEL 

        70 
MDQNAFSLTQ K 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ634743 mRNA. Translation: CAG25512.1.
AL590703 Genomic DNA. Translation: CAH70241.1.
BC056906 mRNA. Translation: AAH56906.1.
BC060317 mRNA. Translation: AAH60317.1.
RefSeqNP_997001.1. NM_207118.2.
UniGeneHs.356224.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1YDLX-ray2.30A6-71[»]
2JNJNMR-A/B1-71[»]
ProteinModelPortalQ6ZYL4.
SMRQ6ZYL4. Positions 1-71.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid135676. 4 interactions.
DIPDIP-29188N.
IntActQ6ZYL4. 1 interaction.
STRING9606.ENSP00000356067.

PTM databases

PhosphoSiteQ6ZYL4.

Polymorphism databases

DMDM67462047.

Proteomic databases

PaxDbQ6ZYL4.
PRIDEQ6ZYL4.

Protocols and materials databases

DNASU404672.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000607778; ENSP00000476100; ENSG00000272047.
GeneID404672.
KEGGhsa:404672.
UCSCuc003qrd.3. human.

Organism-specific databases

CTD404672.
GeneCardsGC06P158509.
HGNCHGNC:21157. GTF2H5.
HPACAB037029.
CAB037042.
MIM601675. phenotype.
608780. gene.
neXtProtNX_Q6ZYL4.
Orphanet33364. Trichothiodystrophy.
PharmGKBPA134962077.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG278168.
HOVERGENHBG055393.
InParanoidQ6ZYL4.
KOK10845.
OMAKDLDDTH.
OrthoDBEOG7BGHPM.
PhylomeDBQ6ZYL4.
TreeFamTF319487.

Gene expression databases

BgeeQ6ZYL4.
CleanExHS_GTF2H5.
GenevestigatorQ6ZYL4.

Family and domain databases

Gene3D3.30.70.1220. 1 hit.
InterProIPR009400. TFIIH_TTDA/Tfb5.
[Graphical view]
PfamPF06331. Tbf5. 1 hit.
[Graphical view]
SUPFAMSSF142897. SSF142897. 1 hit.
ProtoNetSearch...

Other

EvolutionaryTraceQ6ZYL4.
GeneWikiGTF2H5.
GenomeRNAi404672.
NextBio107889.
PROQ6ZYL4.
SOURCESearch...

Entry information

Entry nameTF2H5_HUMAN
AccessionPrimary (citable) accession number: Q6ZYL4
Secondary accession number(s): Q0P5V8
Entry history
Integrated into UniProtKB/Swiss-Prot: June 7, 2005
Last sequence update: July 5, 2004
Last modified: April 16, 2014
This is version 103 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM