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FLASH GENE

Symbol

COX6B1

contributors: mct/npt - updated : 02-07-2008

HGNC name	cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous)
HGNC id	2280

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	COX6B1D COX6B1 deficiency
Location	19q13.1      Physical location : 36.139.124 - 36.149.685
Synonym name	cytochrome c oxidase subunit VIb polypeptide 1
	cytochrome c oxidase subunit AED
Synonym symbol(s)	COXG, COX6B
EC.number	1.9.3.1

DNA

TYPE	functioning gene
STRUCTURE	10.00 kb     4 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 4 - 578 10.2 86 - Grimwood (2004), Massa (2008)

EXPRESSION

Type

widely

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive liver         Endocrine parathyroid       highly Reproductive male system prostate     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Muscular striatum skeletal   highly

cells

System Cell Pubmed Species Stage Rna symbol not specific fibroblast

cell lineage
cell lines	MOLT-4
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		instable
STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to murine Cox6b1

Homologene

FAMILY

cytochrome c oxidase VIb family

CATEGORY

enzyme , structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,mitochondria,interspace

basic FUNCTION	cytochrome c oxidase activity
	may be involved in the regulation and assembly of the complex
	connecting the two COX monomers into the physiological dimeric form

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

text	4 ferrocytochrome c + O2 = 4 ferricytochrome c + 2 H2O

PATHWAY

metabolism

energetic

signaling

a component

component of the cytochrome oxidase c complex (the terminal enzyme in the mitochondrial respiratory chain transferring electron from reduced cytochrome c to oxygen)

INTERACTION

DNA

RNA

small molecule
	may be one of the heme binding subunits

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

COX6B1D

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS