InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ERCC3

Summary

InnateDB Protein

IDBP-68967.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ERCC3

Protein Name

excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)

Synonyms

BTF2; GTF2H; RAD25; TFIIH; XPB;

Species

Homo sapiens

Ensembl Protein

ENSP00000285398

InnateDB Gene

IDBG-68963 (ERCC3)

Protein Structure

UniProt Annotation

Function

ATP-dependent 3'-5' DNA helicase, component of the core- TFIIH basal transcription factor, involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Acts by opening DNA either around the RNA transcription start site or the DNA damage. {ECO:0000269PubMed:10024882, ECO:0000269PubMed:8157004}.

Subcellular Localization

Nucleus.

Disease Associations

Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651]: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-B patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. {ECO:0000269PubMed:16947863, ECO:0000269PubMed:8304337}. Note=The disease is caused by mutations affecting the gene represented in this entry.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. {ECO:0000269PubMed:9012405}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 73 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	73 [view]
Protein-Protein	68 [view]
Protein-DNA	5 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003684	damaged DNA binding
GO:0004003	ATP-dependent DNA helicase activity
GO:0004672	protein kinase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0005525	GTP binding
GO:0008022	protein C-terminus binding
GO:0008094	DNA-dependent ATPase activity
GO:0008134	transcription factor binding
GO:0008353	RNA polymerase II carboxy-terminal domain kinase activity
GO:0016787	hydrolase activity
GO:0016887	ATPase activity
GO:0032564	dATP binding
GO:0042277	peptide binding
GO:0043138	3'-5' DNA helicase activity
GO:0047485	protein N-terminus binding

Biological Process

GO:0000717	nucleotide-excision repair, DNA duplex unwinding
GO:0000718	nucleotide-excision repair, DNA damage removal
GO:0001666	response to hypoxia
GO:0006200	ATP catabolic process
GO:0006265	DNA topological change
GO:0006281	DNA repair
GO:0006283	transcription-coupled nucleotide-excision repair
GO:0006289	nucleotide-excision repair
GO:0006360	transcription from RNA polymerase I promoter
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 from RNA polymerase II promoter
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:0006468	protein phosphorylation
GO:0006915	apoptotic process
GO:0006979	response to oxidative stress
GO:0008104	protein localization
GO:0009411	response to UV
GO:0009650	UV protection
GO:0010467	gene expression
GO:0016032	viral process
GO:0032508	DNA duplex unwinding
GO:0033683	nucleotide-excision repair, DNA incision
GO:0035315	hair cell differentiation
GO:0043065	positive regulation of apoptotic process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0050434	positive regulation of viral transcription
GO:1901990	regulation of mitotic cell cycle phase transition

Cellular Component

GO:0000439	core TFIIH complex
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005675	holo TFIIH complex

Protein Structure and Domains

PDB ID

InterPro

IPR001161 Helicase Ercc3
IPR001650 Helicase, C-terminal
IPR006935 Helicase/UvrB domain
IPR014001 Helicase, superfamily 1/2, ATP-binding domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00271
PF04851

PRINTS

PR00851

PIRSF

SMART

SM00490
SM00487

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt