COX6C (cytochrome c oxidase subunit VIc)

Identity

Other names	Cytochrome c oxidase polypeptide VIc precursor
Hugo	COX6C
Location	8q22.2

DNA/RNA

Description

The gene spans 15.5 kb; orientation : reverse strand; 4 exons; this cytochrome C oxidase subunit 6c is encoded by the nuclear DNA (some other subunits are encoded by the mitochondrial DNA).

Protein

Description	75 amino acids, 8.8 kDa; contains a transmembrane domain
Expression	wide
Localisation	mitochondria (inner membrane)
Function	subunit of the cytochrome C oxidase (respiratory chain complex of the mitochondria); catalytic activity.

Implicated in

Entity	Uterine fibromyoma
Disease	The most common benign tumors of the female genital tract.
Hybrid/Mutated Gene	HMGA2 HMGA2 exon 3 was found fused to COX6C exon 2 in one case without cytogenetic analysis; HMGA2 (previously named HMGIC), sitting in 12q15, is the most frequently involved gene in uterine leiomyoma.
Abnormal Protein	The 3 N-term DNA binding domains (AT hooks) of HMGA2 is fused to the C-term of COX6C

External links

	Nomenclature
Hugo	COX6C
GDB	COX6C
Entrez_Gene	COX6C  1345  cytochrome c oxidase subunit VIc
	Cards
Atlas	COX6CID251
GeneCards	COX6C
Ensembl	COX6C [Search_View]   ENSG00000164919 [Gene_View]
Genatlas	COX6C
GeneLynx	COX6C
eGenome	COX6C
euGene	1345
	Genomic and cartography
GoldenPath	COX6C  -  8q22.2   chr8:100959548-100975071 -  8q22-q23   [Description]    (hg18-Mar_2006)
Ensembl	COX6C - 8q22-q23 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	COX6C
	Gene and transcription
Genbank	BC000187 [ ENTREZ ]
Genbank	BT007007 [ ENTREZ ]
Genbank	DQ890542 [ ENTREZ ]
Genbank	DQ896797 [ ENTREZ ]
Genbank	S82616 [ ENTREZ ]
RefSeq	NM_004374 [ SRS ]    NM_004374 [ ENTREZ ]
RefSeq	AC_000051 [ SRS ]    AC_000051 [ ENTREZ ]
RefSeq	NC_000008 [ SRS ]    NC_000008 [ ENTREZ ]
RefSeq	NG_007098 [ SRS ]    NG_007098 [ ENTREZ ]
RefSeq	NT_008046 [ SRS ]    NT_008046 [ ENTREZ ]
RefSeq	NW_923984 [ SRS ]    NW_923984 [ ENTREZ ]
AceView	COX6C AceView - NCBI
Unigene	Hs.351875 [ SRS ]    Hs.351875 [ NCBI ]     HS351875 [ spliceNest ]
Fast-db	7327 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P09669 [ SRS]    P09669 [ EXPASY ]     P09669 [ INTERPRO ]
Interpro	IPR004204 COX6C [ SRS ]    IPR004204 COX6C [ EBI ]
CluSTr	P09669
Pfam	PF02937 COX6C [ SRS ]    PF02937 COX6C [ Sanger ]    pfam02937 [ NCBI-CDD ]
Prodom	PD015032 COX6C[INRA-Toulouse]
Prodom	P09669 COX6C_HUMAN [ Domain structure ]   P09669 COX6C_HUMAN  [ sequences sharing at least 1 domain ]
Blocks	P09669
HPRD	00494
	Protein Interaction databases
DIP	P09669
IntAct	P09669
	Polymorphism : SNP, mutations, diseases
OMIM	124090    [ map ]
GENECLINICS	124090
SNP	COX6C [dbSNP-NCBI]
SNP	NM_004374 [SNP-NCI]
SNP	COX6C [GeneSNPs - Utah]  COX6C] [HGBASE - SRS]
HAPMAP	COX6C [HAPMAP]
COSMIC	COX6C [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	COX6C [Translocation breakpoints In Cancer]
HGMD	COX6C
	General knowledge
Family Browser	COX6C [UCSC Family Browser]
SOURCE	NM_004374
SMD	Hs.351875
SAGE	Hs.351875
GO	cytochrome-c oxidase activity [Amigo]  cytochrome-c oxidase activity
GO	mitochondrion [Amigo]  mitochondrion
GO	mitochondrial inner membrane [Amigo]  mitochondrial inner membrane
GO	electron transport [Amigo]  electron transport
GO	membrane [Amigo]  membrane
GO	integral to membrane [Amigo]  integral to membrane
KEGG	Oxidative phosphorylation
PubGene	COX6C
TreeFam	COX6C
CTD	1345 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	COX6C Related clones (RZPD - Berlin)
	PubMed
PubMed	9 Pubmed reference(s) in LocusLink

Bibliography

Structural organization and transcription regulation of nuclear genes encoding the mammalian cytochrome c oxidase complex.

Lenka N, Vijayasarathy C, Mullick J, Avadhani NG

Progress in nucleic acid research and molecular biology. 1998 ; 61 : 309-344.

PMID 9752724

Novel gene fusion of COX6C at 8q22-23 to HMGIC at 12q15 in a uterine leiomyoma.

Kurose K, Mine N, Doi D, Ota Y, Yoneyama K, Konishi H, Araki T, Emi M

Genes, chromosomes & cancer. 2000 ; 27 (3) : 303-307.

PMID 10679920

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	04-2004	Jean-Loup Huret, Sylvie Senon

Citation

This paper should be referenced as such :

Huret JL, Senon S . COX6C (cytochrome c oxidase subunit VIc). Atlas Genet Cytogenet Oncol Haematol. April 2004 . URL : http://AtlasGeneticsOncology.org/Genes/COX6CID251.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Wed Jul 2 08:22:50 2008