Q6ZYL4 (TF2H5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	GTF2H5
Synonyms:	C6orf175, TTDA

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	71 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	DNA damage DNA repair Transcription Transcription regulation
Cellular component	Nucleus
Disease	Disease mutation Ichthyosis
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	nucleotide-excision repair Inferred from electronic annotation. Source: InterPro regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	core TFIIH complex Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 71

71

General transcription factor IIH subunit 5

PRO_0000119256

Amino acid modifications

Modified residue

69

1

Phosphothreonine Ref.4

Natural variations

Natural variant

21

1

L → P in TTDP. Ref.1

VAR_022647

Secondary structure

1

.

.

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.

.

.

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.

.

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.

.

71

Helix Strand Turn

Details...

Beta strand

8 – 11

4

Helix

14 – 25

12

Turn

26 – 29

4

Beta strand

34 – 37

4

Beta strand

39 – 45

7

Helix

49 – 59

11

Turn

60 – 62

3

Turn

65 – 70

6

Sequences

	Sequence		Length	Mass (Da)
	Q6ZYL4 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: DBEB4D3C9BFA2C54	FASTA	71	8,053
	10 20 30 40 50 60 MVNVLKGVLI ECDPAMKQFL LYLDESNALG KKFIIQDIDD THVFVIAELV NVLQERVGEL 70 MDQNAFSLTQ K

References

	« Hide 'large scale' referencesShow '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, 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]	"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, MASS SPECTROMETRY. 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.

IPI

IPI00165309.

RefSeq

NP_997001.1. NM_207118.2.

UniGene

Hs.356224.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1YDL	X-ray	2.30	A	6-71	[»]
2JNJ	NMR	-	A/B	1-71	[»]

ProteinModelPortal

Q6ZYL4.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-29188N.

STRING

9606.ENSP00000356067.

PTM databases

PhosphoSite

Q6ZYL4.

Polymorphism databases

DMDM

67462047.

Proteomic databases

PaxDb

Q6ZYL4.

PRIDE

Q6ZYL4.

Protocols and materials databases

DNASU

404672.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000438073; ENSP00000415032; ENSG00000185068.

GeneID

404672.

KEGG

hsa:404672.

UCSC

uc003qrd.3. human.

Organism-specific databases

CTD

404672.

GeneCards

GC06P158509.

HGNC

HGNC:21157. GTF2H5.

HPA

CAB037029.

MIM

601675. phenotype.
608780. gene.

neXtProt

NX_Q6ZYL4.

Orphanet

453. IBIDS syndrome.
670. PIBIDS syndrome.

PharmGKB

PA134962077.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG278168.

HOVERGEN

HBG055393.

InParanoid

Q6ZYL4.

KO

K10845.

OMA

KDLDDTH.

OrthoDB

EOG4FFD3H.

PhylomeDB

Q6ZYL4.

Gene expression databases

Bgee

Q6ZYL4.

CleanEx

HS_GTF2H5.

Genevestigator

Q6ZYL4.

GermOnline

ENSG00000185068. Homo sapiens.

Family and domain databases

Gene3D

3.30.70.1220. 1 hit.

InterPro

IPR009400. TFIIH_TTDA/Tfb5.
[Graphical view]

Pfam

PF06331. Tbf5. 1 hit.
[Graphical view]

SUPFAM

SSF142897. SSF142897. 1 hit.

ProtoNet

Search...

Other

EvolutionaryTrace

Q6ZYL4.

GenomeRNAi

404672.

NextBio

107889.

SOURCE

Search...

Entry information

Entry name

TF2H5_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 95 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.