GenAge entry for ERCC6 (Homo sapiens)

Gene name (HAGRID: 92)

HGNC symbol
ERCC6 
Aliases
CSB; RAD26; ARMD5; CKN2 
Common name
excision repair cross-complementation group 6 

Potential relevance to the human ageing process

Main reason for selection
Entry selected based on evidence linking the gene product to a pathway or mechanism linked to ageing
Description

Also known as CSB, ERCC6 is involved in DNA repair and perhaps DNA unwinding [506]. ERCC6-null mice show skin cancer predisposition, reduced growth, and neurologic dysfunction [1768]. Mice mutant for ERCC6 and XPA die before weaning and display some signs of premature ageing included stunted growth, neurological dysfunction, retinal degeneration, cachexia, and kyphosis [1934]. Mutations in the human ERCC6 gene cause Cockayne syndrome type B, which can be considered a segmental progeroid syndrome even though it is more severe than the Cockayne syndrome type A caused by mutations in ERCC8. If indeed Cockayne syndrome is premature ageing, it is likely ERCC6 plays a role in human ageing [238].

Cytogenetic information

Cytogenetic band
10q11.23
Location
49,454,480 bp to 49,539,123 bp
Orientation
Minus strand
Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology
Process: GO:0000303; response to superoxide
GO:0006283; transcription-coupled nucleotide-excision repair
GO:0006284; base-excision repair
GO:0006290; pyrimidine dimer repair
GO:0006362; transcription elongation from RNA polymerase I promoter
GO:0006366; transcription from RNA polymerase II promoter
GO:0006979; response to oxidative stress
GO:0007256; activation of JNKK activity
GO:0007257; activation of JUN kinase activity
GO:0008630; intrinsic apoptotic signaling pathway in response to DNA damage
GO:0009411; response to UV
GO:0009636; response to toxic substance
GO:0010165; response to X-ray
GO:0010224; response to UV-B
GO:0010332; response to gamma radiation
GO:0032784; regulation of DNA-templated transcription, elongation
GO:0032786; positive regulation of DNA-templated transcription, elongation
GO:0035264; multicellular organism growth
GO:0045494; photoreceptor cell maintenance
GO:0045815; positive regulation of gene expression, epigenetic
GO:0061098; positive regulation of protein tyrosine kinase activity
Cellular component: GO:0005634; nucleus
GO:0005654; nucleoplasm
GO:0005730; nucleolus
GO:0008023; transcription elongation factor complex
Function: GO:0003677; DNA binding
GO:0003678; DNA helicase activity
GO:0003682; chromatin binding
GO:0005515; protein binding
GO:0005524; ATP binding
GO:0008022; protein C-terminus binding
GO:0008094; DNA-dependent ATPase activity
GO:0030296; protein tyrosine kinase activator activity
GO:0032403; protein complex binding
GO:0047485; protein N-terminus binding
Hide GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge
TP53, ERCC2, ERCC8, PARP1, BRCA1, RPA1, VCP, ERCC3, ERCC5, PCNA, POLD1, BAX, XPA, HDAC1, MDM2, ERCC4
STRING interaction network
Protein-Protein network diagram for ERCC6

Retrieve sequences for ERCC6

ORF
ORF
CDS
CDS

Homologs in model organisms

Danio rerio
ercc6
Mus musculus
Ercc6
Rattus norvegicus
Ercc6
Saccharomyces cerevisiae
RAD26
Schizosaccharomyces pombe
rhp26

In other databases

LongevityMap
  • This gene is present as ERCC6

Selected references

External links

EPD
ORF Accession
NM_000124
CDS Accession
NP_000115
OMIM
609413
HPRD
00596
Ensembl
ERCC6
UniProt/Swiss-Prot
ERCC6_HUMAN
GeneCards
ERCC6
Entrez Gene
2074
UniGene
GenAtlas
ERCC6
Internet
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