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Q6ZYL4

- TF2H5_HUMAN

UniProt

Q6ZYL4 - TF2H5_HUMAN

Protein

General transcription factor IIH subunit 5

Gene

GTF2H5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
  1. 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 - Biological processi

    1. nucleotide-excision repair Source: MGI
    2. regulation of transcription, DNA-templated Source: UniProtKB-KW
    3. transcription, DNA-templated Source: UniProtKB-KW

    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

    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 – 114
    Helixi14 – 2512
    Turni26 – 294
    Beta strandi34 – 374
    Beta strandi39 – 457
    Helixi49 – 5911
    Turni60 – 623
    Turni65 – 706

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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.
    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

    MVNVLKGVLI ECDPAMKQFL LYLDESNALG KKFIIQDIDD THVFVIAELV   50
    NVLQERVGEL MDQNAFSLTQ K 71
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    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.
    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

    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: October 1, 2014
    This is version 106 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