CCS (copper chaperone for superoxide dismutase)

2011-08-01  

Identity

HGNC
LOCATION
11q13.2
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 9973
MIM: 603864
HGNC: 1613
Ensembl: ENSG00000173992

Variants:

dbSNP: 9973
ClinVar: 9973
TCGA: ENSG00000173992
COSMIC: CCS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173992ENST00000310190J3KNF4
ENSG00000173992ENST00000530961E9PK03
ENSG00000173992ENST00000533244O14618
ENSG00000173992ENST00000534763E9PP76

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Amyotrophic lateral sclerosis (ALS)KEGGko05014
Amyotrophic lateral sclerosis (ALS)KEGGhsa05014
Cellular responses to stressREACTOMER-HSA-2262752
Detoxification of Reactive Oxygen SpeciesREACTOMER-HSA-3299685

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
185523502008Complete loss of post-translational modifications triggers fibrillar aggregation of SOD1 in the familial form of amyotrophic lateral sclerosis.80
228697352012Human superoxide dismutase 1 (hSOD1) maturation through interaction with human copper chaperone for SOD1 (hCCS).35
165316092006Mechanisms of the copper-dependent turnover of the copper chaperone for superoxide dismutase.33
254295172014In-cell NMR reveals potential precursor of toxic species from SOD1 fALS mutants.30
176013502007A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.27
192279722009Structural and biophysical properties of the pathogenic SOD1 variant H46R/H48Q.26
201541382010Regulation of the copper chaperone CCS by XIAP-mediated ubiquitination.25
242979232013Cellular distribution of copper to superoxide dismutase involves scaffolding by membranes.23
189772412008Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.20
183934422008A selenocysteine variant of the human copper chaperone for superoxide dismutase. A Se-XAS probe of cluster composition at the domain 3-domain 3 dimer interface.11

Citation

Dessen P

CCS (copper chaperone for superoxide dismutase)

Atlas Genet Cytogenet Oncol Haematol. 2011-08-01

Online version: http://atlasgeneticsoncology.org/gene/52341/ccs