InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: XPC

Summary

InnateDB Gene

IDBG-19992.6

Last Modified

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

Gene Symbol

XPC

Gene Name

xeroderma pigmentosum, complementation group C

Synonyms

p125; RAD4; XP3; XPCC

Species

Homo sapiens

Ensembl Gene

ENSG00000154767

Encoded Proteins

IDBP-19994

xeroderma pigmentosum, complementation group C

IDBP-478283

xeroderma pigmentosum, complementation group C

IDBP-481623

xeroderma pigmentosum, complementation group C

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation. Mutations in this gene or some other NER components result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 3:14145147-14178783

Strand

Reverse strand

Band

p25.1

Transcripts

ENST00000285021	ENSP00000285021
ENST00000455144
ENST00000452172
ENST00000427795
ENST00000476581	ENSP00000424548
ENST00000477324
ENST00000511155	ENSP00000423867

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 65 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	65 [view]
Protein-Protein	63 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000404	heteroduplex DNA loop binding
GO:0000405	bubble DNA binding
GO:0003677	DNA binding
GO:0003684	damaged DNA binding
GO:0003697	single-stranded DNA binding
GO:0005515	protein binding

Biological Process

GO:0000715	nucleotide-excision repair, DNA damage recognition
GO:0000718	nucleotide-excision repair, DNA damage removal
GO:0006281	DNA repair
GO:0006289	nucleotide-excision repair
GO:0006974	cellular response to DNA damage stimulus
GO:0010224	response to UV-B
GO:0031573	intra-S DNA damage checkpoint
GO:0042493	response to drug
GO:1901990	regulation of mitotic cell cycle phase transition

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005730	nucleolus
GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0070062	extracellular vesicular exosome
GO:0071942	XPC complex

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000030094

View Gene Order

ENSBTAG00000007362

Not yet available

Pathways

NETPATH

REACTOME

REACT_476

DNA Damage Recognition in GG-NER pathway

REACT_311

Dual incision reaction in GG-NER pathway

REACT_257

Formation of incision complex in GG-NER pathway

REACT_2253

Global Genomic NER (GG-NER) pathway

REACT_1826

Nucleotide Excision Repair pathway

REACT_216

DNA Repair pathway

KEGG

hsa03420

Nucleotide excision repair pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

D2CPJ8 E7EUB5

UniProt Splice Variant

Entrez Gene

7508

UniGene

Hs.475538

RefSeq

NM_001145769 NM_004628

HUGO

HGNC:12816

OMIM

613208

CCDS

CCDS46763

HPRD

02046

IMGT

EMBL

AC093495 EU530528 FJ695191 FJ695192

GenPept

ACE74251

RNA Seq Atlas

7508