CCS Gene

Aliases
for CCS gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC11P068894 GC11P068043 GC11P066610 GC11P066136 GC11P066117 GC11P062688

Summaries
for CCS gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for CCS gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000011.9  NT_167190.2  NC_018922.2  

SwitchGear Promoter luciferase reporter plasmid: CCS promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCS

CCS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P066360:  view genomic region     (about GC identifiers)

Proteins
for CCS gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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3 PDB 3D structures from and Proteopedia for CCS:

1DO5 (3D)        2CRL (3D)        2RSQ (3D)    

Explore the universe of human proteins at neXtProt for CCS: NX_O14618

Explore proteomics data for CCS at MOPED

Post-translational modifications: 

CCS Human Recombinant Protein Products:

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	Browse Proteins at Cloud-Clone Corp.
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	antibodies-online proteins for CCS (13 products)
	antibodies-online peptides for CCS

CCS Antibody Products:

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CCS Assay Products:

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	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.
	Search eBioscience for ELISAs for CCS
	antibodies-online kits for CCS (12 products)

Domains /
Families
for CCS gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: O14618

Find genes that share domains with CCS           About GenesLikeMe

Function
for CCS gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

(inferred from 1 allele) (MGI details for Ccs)

genOway: Develop your customized and physiologically relevant rodent model for CCS

miRNA Products:		miRTarBase miRNAs that target CCS: hsa-mir-484 (MIRT042263)
		Block miRNA regulation of human, mouse, rat CCS using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate CCS
		SwitchGear 3'UTR luciferase reporter plasmid: CCS 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for CCS
		Predesigned siRNA for gene silencing in human, mouse, rat CCS

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for CCS

Clone Products:		OriGene clones in human, mouse for CCS (see all 6) OriGene ORF clones in mouse, rat for CCS OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): CCS (NM_005333)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCS
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCS

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CCS
		Browse ESI BIO Cell Lines and PureStem Progenitors for CCS

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCS

Localization
for CCS gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
nucleus	5
cytosol	3
mitochondrion	3
extracellular	2
chloroplast	1
cytoskeleton	1
plasma membrane	1

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Gene Ontology (GO): 4 cellular component terms:    About this table

Pathways & Interactions
for CCS gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for CCS About     See pathways by source

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	SuperPath	Contained pathways About
1	Amyotrophic lateral sclerosis (ALS)	Amyotrophic lateral sclerosis (ALS) 0.63 Amyotrophic lateral sclerosis (ALS) 0.63
2	Cellular Senescence	Cellular responses to stress 0.81
3	Detoxification of Reactive Oxygen Species	Detoxification of Reactive Oxygen Species

1 BioSystems Pathway for CCS

Amyotrophic lateral sclerosis (ALS)

1 Reactome Pathway for CCS

Detoxification of Reactive Oxygen Species

1 Kegg Pathway  (Kegg details for CCS)

Amyotrophic lateral sclerosis (ALS)

Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

Drugs & Compounds
for CCS gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for CCS gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for CCS gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CCS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GGGGCCCCCA

About this image

Primer Products:		OriGene qPCR primer pairs and template standards for CCS OriGene qSTAR qPCR primer pairs in human, mouse for CCS
		Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCS
		QuantiTect SYBR Green Assays in human, mouse, rat CCS
		QuantiFast Probe-based Assays in human, mouse, rat CCS

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCS

Orthologs
for CCS gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for CCS gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for CCS gene

SOD1²  SOD3²  

1 SIMAP similar gene for CCS using alignment to 5 protein entries:     CCS_HUMAN (see all proteins):

SOD1

Find genes that share paralogs with CCS           About GenesLikeMe

Genomic Variants
for CCS gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CCS (see all 394)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1470620181,2	C	untested1	66278765(+)	TTGATA/G/TATTTG	1	--	us2k1		1		NA	4550
rs1484989441,2	C	--	66278660(+)	TTCTCC/TCAGCT	1	--	us2k1		0	--	--	--	--
rs2012571461,2	C	--	66278687(+)	GATGGA/C/GAGGGA	1	--	us2k1		0	--	--	--	--
rs758948271,2	C	--	66278785(+)	TTCTTG/TACGTA	1	--	us2k1		0	--	--	--	--
rs1442145141,2	C	--	66278787(+)	CTTGAC/TGTAGA	1	--	us2k1		0	--	--	--	--
rs1465635861,2	C	--	66278981(+)	GCCAGA/GTGGTT	1	--	us2k1		0	--	--	--	--
rs1413035801,2	C	--	66278999(+)	GCTCCA/GGCCCC	1	--	us2k1		0	--	--	--	--
rs1440928761,2	C	--	66279017(+)	TGGAAA/GGAGTC	1	--	us2k1		0	--	--	--	--
rs2005763841,2	C	--	66279056(+)	GCAGCC/TGCCTG	1	--	us2k1		1		EU	1321
rs1431069571,2	C	--	66279070(+)	CACGAA/C/TCTCAT	1	--	us2k1		1		NA	3644

HapMap Linkage Disequilibrium report for CCS (66360292 - 66373490 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for CCS:    About this table    

Variant ID	Type	Subtype	PubMed ID
nsv513321	CNV	Insertion	21212237
nsv363	CNV	Insertion	18451855
nsv522277	CNV	Loss	19592680
dgv1187n71	CNV	Loss	21882294
nsv897789	CNV	Gain	21882294

Human Gene Mutation Database (HGMD): CCS

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing CCS

DNA2.0 Custom Variant and Variant Library Synthesis for CCS

Disorders / Diseases
for CCS gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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2 Novoseek inferred disease relationships for CCS gene    About this table

Publications
for CCS gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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1. The copper chaperone for superoxide dismutase. (PubMed id 9295278)^{1, 2, 3} Culotta V.C....Gitlin J.D. (J. Biol. Chem. 1997)
2. The copper chaperone CCS directly interacts with copper/zinc superoxide dismutase. (PubMed id 9726962)^{1, 2, 9} Casareno R.L.B.... Gitlin J.D. (J. Biol. Chem. 1998)
3. Regulation of the copper chaperone CCS by XIAP-mediated ubiquitination. (PubMed id 20154138)^{1, 2, 9} Brady G.F.... Duckett C.S. (Mol. Cell. Biol. 2010)
4. Cysteine-to-serine mutants of the human copper chaperone for superoxide dismutase reveal a copper cluster at a domain III dimer interface. (PubMed id 15736924)^{1, 2, 9} Stasser J.P.... Blackburn N.J. (Biochemistry 2005)
5. Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase. (PubMed id 22508683)^{1, 2} Huppke P.... Gartner J. (Hum. Mutat. 2012)
6. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PubMed id 18977241)^{1, 4} Starr J.M....Deary I.J. (Mech. Ageing Dev. 2008)
7. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. (PubMed id 17601350)^{1, 4} Harris S.E....Deary I.J. (BMC Genet. 2007)
8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
9. Crystal structure of the second domain of the human copper chaperone for superoxide dismutase. (PubMed id 10677207)^{1, 2} Lamb A.L....Rosenzweig A.C. (Biochemistry 2000)
10. The copper chaperone CCS is abundant in neurons and astrocytes in human and rodent brain. (PubMed id 9886096)^{1, 9} Rothstein J.D....Wong P.C. (J. Neurochem. 1999)

External Searches for CCS gene

Genome Databases showing CCS gene

Other Databases showing CCS gene

Specialized Databases showing CCS gene

Products
for CCS gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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