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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

COX5A Gene

protein-coding GIFtS: 60
GCID: GC15M075212

cytochrome c oxidase subunit Va

Explore 135 diseases affiliated with
COX5A via

MalaCards

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cytochrome C Oxidase Subunit Va¹ ²		VA²
Cytochrome C Oxidase Polypeptide Va² ³		Cytochrome C Oxidase Polypeptide, Mitochondrial²
COX²		Cytochrome C Oxidase Subunit 5A, Mitochondrial²
COX-VA²		Mitochondrial Cytochrome C Oxidase Subunit Va²

External Ids:	HGNC: 2267¹	Entrez Gene: 9377²	Ensembl: ENSG00000178741⁷	OMIM: 603773⁵	UniProtKB: P20674³

Export aliases for COX5A gene to outside databases

Previous GC identifers: GC15M071071 GC15M068327 GC15M072788 GC15M072928 GC15M072999 GC15M052009

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for COX5A:

Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme

complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton

electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and

nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping

activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and

assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain

enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: COX5A_HUMAN, P20674

Function: This is the heme A-containing chain of cytochrome c oxidase, the terminal oxidase in mitochondrial electron

transport

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the COX5A gene promoter:
Max1 Spz1 p53 AP-1 ATF-2 NF-kappaB c-Jun NF-kappaB1 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: COX5A promoter sequence

Search SABiosciences Chromatin IP Primers for COX5A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COX5A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q24.1 Ensembl cytogenetic band: 15q24.2 HGNC cytogenetic band: 15q25

COX5A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COX5A gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M075212: view genomic region (about GC identifiers)

Start:	75,212,132 bp from pter	End:	75,230,509 bp from pter
Size:	18,378 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: COX5A_HUMAN, P20674 (See protein sequence)

Recommended Name: Cytochrome c oxidase subunit 5A, mitochondrial precursor

Size: 150 amino acids; 16762 Da

Subcellular location: Mitochondrion inner membrane

Secondary accessions: P30045 Q8TB65

Explore the universe of human proteins at neXtProt for COX5A: NX_P20674

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P20674

COX5A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004246.2

ENSEMBL proteins:

ENSP00000317780 ENSP00000456253 ENSP00000457974 ENSP00000455053 ENSP00000456314

ENSP00000456386

Reactome Protein details: P20674
Human Recombinant Protein Products for COX5A:

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	Novus Biologicals COX5A Protein Novus Biologicals COX5A Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for COX5A

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	--	--
GO:0005743	mitochondrial inner membrane	TAS	--

COX5A for ontologies About GeneDecksing

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Assay Products for COX5A:

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	Uscn ELISAs and CLIAs for COX5A

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

COX5A for domains About GeneDecksing

1 InterPro domain/family:

IPR003204 Cyt_c_oxidase_su5A/6

Graphical View of Domain Structure for InterPro Entry P20674

ProtoNet protein and cluster: P20674

1 Blocks protein family: IPB003204 Cytochrome c oxidase

UniProtKB/Swiss-Prot: COX5A_HUMAN, P20674

Similarity: Belongs to the cytochrome c oxidase subunit 5A family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: COX5A_HUMAN, P20674

Function: This is the heme A-containing chain of cytochrome c oxidase, the terminal oxidase in mitochondrial electron

transport

Genatlas biochemistry entry for COX5A:

cytochrome c oxidase,subunit Va,component of the complex IV,terminal enzyme complex for electron transfer,oxidative

phosphorylation (OXPHOS),inner mitochondrial membrane

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004129	cytochrome-c oxidase activity	IEA	--
GO:0009055	electron carrier activity	TAS	2853101
GO:0046872	metal ion binding	IEA	--

COX5A for ontologies About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for COX5A

miRNA Products:		OriGene 3'-UTR Clone: COX5A Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COX5A
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate COX5A:
		hsa-miR-3671 hsa-miR-562 hsa-miR-26a hsa-miR-26b hsa-miR-1297
		SwitchGear 3'UTR luciferase reporter plasmid: COX5A 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COX5A (see all 7) OriGene shRNA RFP: COX5A OriGene siRNA: COX5A
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		Sirion Biotech Custom design and validation of potent shRNA sequences against COX5A

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for COX5A
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COX5A (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COX5A OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: COX5A (NM_004255)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for COX5A
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX5A

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for COX5A
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In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for COX5A

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	1.00	Oxidative phosphorylation	0.63
Respiratory electron transport	0.81	Parkinson's disease	0.61
Electron Transport Chain	0.76	Alzheimer's disease	0.43
The citric acid (TCA) cycle and respiratory electron transport	0.72	Huntington's disease	0.40

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

AMPK Enzyme Complex Pathway

AMPK Enzyme Complex Pathway

1.00

Cardiac muscle contraction

Cardiac muscle contraction

1.00

Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)

Arachidonate Epoxygenase / Epoxide Hydrolase

0.36

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for COX5A

AMPK Enzyme Complex Pathway

2 BioSystems Pathways for COX5A

	Arachidonate Epoxygenase / Epoxide Hydrolase
	Electron Transport Chain

4 Reactome Pathways for COX5A

	Respiratory electron transport
	Metabolism
	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
	The citric acid (TCA) cycle and respiratory electron transport

5/6 Kegg Pathways (Kegg details for COX5A) (see all 6):

	Oxidative phosphorylation
	Metabolic pathways
	Cardiac muscle contraction
	Alzheimer's disease
	Parkinson's disease

COX5A for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for COX5A

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/68 Interacting proteins for COX5A (P20674^{2, 3} ENSP00000317780⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 68)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RPL9	P32969³	I2D: score=5
RPL9P7	P32969³	I2D: score=5
RPL9P8	P32969³	I2D: score=5
RPL9P9	P32969³	I2D: score=5
COPS6	Q7L5N1²^,³, ENSP00000304102⁴	MINT-63552 I2D: score=5 STRING: ENSP00000304102

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0022904	respiratory electron transport chain	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

COX5A for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

COX5A for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for COX5A

3 HMDB Compounds for COX5A About this table

Compound	Synonyms	CAS #	PubMed Ids
(2E)-Hexadecenoyl-CoA	trans-2-Hexadecenoyl-CoA (see all 4)	4460-95-1	--
Alpha-D-Glucose 1,6-bisphosphate	Alpha-D-1,6-bis(dihydrogen phosphate) Glucopyranose (see all 15)	10139-18-1	--
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--

2 DrugBank Compounds for COX5A About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Cholic Acid	--	81-25-4	target	--	10592235
N-Formylmethionine	--	--	target	--	10592235

10/134 Novoseek chemical compound relationships for COX5A gene (see all 134) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
arachidonic acid	86.6	285	12544904 (5), 16714329 (3), 16846782 (3), 7858842 (3) (see all 99)
prostaglandin	84.5	150	19843975 (2), 11418589 (2), 8936582 (1), 9096394 (1) (see all 99)
pge2	81	133	17868110 (6), 10815617 (4), 12002912 (3), 16714329 (3) (see all 71)
celecoxib	78.8	15	15500394 (1), 12925310 (1), 19723114 (1), 10215599 (1) (see all 14)
ns 398	75.8	9	19106979 (1), 12660005 (1), 15931672 (1), 17329938 (1) (see all 8)
rofecoxib	74.3	12	16118328 (2), 17673806 (2), 12925310 (1), 15963707 (1) (see all 8)
indomethacin	71	77	15224350 (2), 17880512 (2), 11352223 (2), 9831321 (2) (see all 60)
prostaglandin-h2	70.5	13	9138698 (1), 9440135 (1), 16552393 (1), 12457435 (1) (see all 13)
aspirin	70.3	81	14584890 (3), 17944992 (2), 16785401 (2), 15992053 (1) (see all 50)
pgh2	69.4	9	9138698 (1), 14683687 (1), 15868626 (1), 12199620 (1) (see all 9)

Search CenterWatch for drugs/clinical trials and news about COX5A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for COX5A gene:

NM_004255.3

Unigene Cluster for COX5A:

Cytochrome c oxidase subunit Va

Hs.401903 [show with all ESTs]

Unigene Representative Sequence: BU150928

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000322347(uc002azi.4) ENST00000562233 ENST00000567270 ENST00000568783

ENST00000568517 ENST00000564811

miRNA Products:		OriGene 3'-UTR Clone: COX5A Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COX5A
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate COX5A:
		hsa-miR-3671 hsa-miR-562 hsa-miR-26a hsa-miR-26b hsa-miR-1297
		SwitchGear 3'UTR luciferase reporter plasmid: COX5A 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COX5A (see all 7) OriGene shRNA RFP: COX5A OriGene siRNA: COX5A
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COX5A
		Sirion Biotech Custom design and validation of potent shRNA sequences against COX5A

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		GenScript: all cDNA clones in your preferred vector: COX5A (NM_004255)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for COX5A
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX5A

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COX5A
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COX5A

Additional cDNA sequence:

AK026615.1 AK026623.1 BC024240.2 CR407649.1 M22760.1

12 DOTS entries:

DT.449524 DT.121026560 DT.100822512 DT.100822513 DT.120786733 DT.100822514 DT.92438976 DT.100822516

DT.40133167 DT.87015672 DT.91786142 DT.91960923

24/358 AceView cDNA sequences (see all 358):

BQ933826 AW007839 BE252970 AK026623 BM842521 AI186198 AI184908 AI924773

AI804296 BE256222 AV647167 CR407649 CK824552 BF477493 BQ777070 AA028138

AI346164 BU629608 N31071 BG981120 AA827855 AI720855 AI879112 AA609533

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for COX5A About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5a	·	5b	·	5c	^	6a	·	6b
SP1:							-										-
SP2:
SP3:							-
SP4:							-				-		-		-		-

ECgene alternative splicing isoforms for COX5A

(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 GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

COX5A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAATGGTAAC

About this image
See COX5A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COX5A

SOURCE GeneReport for Unigene cluster: Hs.401903
SABiosciences Expression via Pathway-Focused PCR Arrays including COX5A:

Mitochondrial Energy Metabolism in human mouse rat

Cancer PathwayFinder in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COX5A Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat COX5A
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COX5A
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COX5A

In Situ
Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for COX5A

(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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for COX5A gene from 7/25 species (see all 25) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cox5a^{1 , 5}	cytochrome c oxidase, subunit Va⁵ cytochrome c oxidase subunit Va¹	87.9(n)¹ 87.67(a)¹		9 (31.05 cM)⁵ 12858¹ NM_007747.2¹ NP_031773.2¹ 57521232⁵
chicken (Gallus gallus)	Aves	COX5A¹	cytochrome c oxidase subunit Va	80.82(n) 89.21(a)		769735 XM_001233020.2 XP_001233021.2
lizard (Anolis carolinensis)	Reptilia	COX5A⁶	--	83(a)	1 ↔ 1	GL343492.1(557252-562398)
African clawed frog (Xenopus laevis)	Amphibia	Xl.24153²	Xenopus laevis transcribed sequence with moderate similarity more	85.24(n)		BX842797.1
zebrafish (Danio rerio)	Actinopterygii	BC059554.1²	--	79.31(n)		BC059554.1
fruit fly (Drosophila melanogaster)	Insecta	CoVa^{1 , 3}	electron transport cytochrome c oxidase³ Cytochrome c oxidase subunit Va¹	52(a)³ 56.02(n)¹ 53.78(a)¹		3 86F9³ 41432¹ NM_169436.2¹ NP_731641.1¹
worm (Caenorhabditis elegans)	Secernentea	cco-2¹	Protein CCO-2	58.76(n) 51.55(a)		176707 NM_067280.4 NP_499681.1

ENSEMBL Gene Tree for COX5A (if available)
TreeFam Gene Tree for COX5A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for COX5A gene

COX5A for paralogs About GeneDecksing

5 Pseudogenes.org Pseudogenes for COX5A
PGOHUM00000239877 PGOHUM00000247806 PGOHUM00000248170 PGOHUM00000262212 PGOHUM00000237489

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1133323^1,2	C,F,A,H	--	75212225(-)	`TACCTA/GTTCTT`	1	--	ds500¹		34		MN EA NA NS	3336
rs1133322^1,2	C,F,A,H	--	75212357(-)	`CAAATT/CGTGTA`	1	--	ds500¹		27		MN NS EA NA WA	2956
rs57015557^1,2	C,F	--	75212435(+)	`TTCTAG/CCCTTC`	1	--	ds500¹		4		WA CSA	124
rs186057379^1,2		--	75212499(+)	`TCAGAC/TGGTTT`	1	--	ds500¹		0	--	--	--	--
rs139441705^1,2		--	75212880(+)	`ATCACA/TGTCTC`	1	--	int¹		0	--	--	--	--
rs11858858^1,2	H	--	75212980(+)	`TACTTC/GCTTCC`	1	--	int¹ trp³		0	--	--	--	--
rs192072897^1,2		--	75213041(+)	`GGGCCA/GGACAC`	1	--	int¹		0	--	--	--	--
rs145035850^1,2		--	75213137(+)	`AACACA/GGTGAA`	1	--	int¹		0	--	--	--	--
rs147575772^1,2		--	75213212(+)	`TACTCA/GGGAGG`	1	--	int¹		0	--	--	--	--
rs142086393^1,2		--	75213313(+)	`ACTCTA/GTCTCC`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for COX5A (75212132 - 75230509 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for COX5A
1 CNV: 102136
1 Inversion: 37170

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(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.)
About This Section

COX5A for disorders           About GeneDecksing

OMIM gene information: 603773    OMIM disorders: --

20/135 diseases for COX5A (see all 135):    About MalaCards

epilepsia partialis continua kearns-sayre syndrome multiple symmetrical lipomatosis multiple symmetric lipomatosis

myoglobinuria recurrent chronic progressive external ophthalmoplegia spinal muscular atrophy familial adenomatous polyposis

mitochondrial encephalomyopathy age related macular degeneration inclusion body myositis ethylmalonic encephalopathy

lipomatosis alpers syndrome muscular atrophy inflammatory bowel disease

ophthalmoplegia menkes disease encephalomyopathy lactic acidosis

2 diseases from the University of Copenhagen DISEASES database for COX5A:

Protein C deficiency Thrombophilia

10/91 Novoseek disease relationships for COX5A gene (see all 91) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cytochrome c oxidase deficiency	93.2	4	9545512 (1), 16773507 (1), 17508937 (1), 11312605 (1)
leigh syndrome	89.6	51	9063742 (2), 12169463 (2), 2175026 (1), 1849240 (1) (see all 39)
progressive external ophthalmoplegia	78.9	11	2175026 (1), 19251978 (1), 1312676 (1), 1330995 (1) (see all 8)
mitochondrial diseases	78.4	22	9832034 (2), 19251978 (1), 19682572 (1), 9063742 (1) (see all 19)
mitochondrial myopathies	77.5	9	1324295 (1), 7736281 (1), 11293802 (1), 8386896 (1) (see all 6)
mitochondrial encephalomyopathies	74.8	7	7595643 (2), 18771761 (2), 8386896 (1), 17435251 (1) (see all 5)
merrf	72.5	7	10477264 (2), 9037024 (1), 1606473 (1), 11850598 (1)
acidosis lactic	65.7	7	19682572 (1), 19879173 (1), 11156535 (1), 14994243 (1) (see all 5)
respiratory chain deficiency	65.2	1	9606056 (1)
epilepsies myoclonic	64.7	4	10912924 (1), 1606473 (1), 9832034 (1)

Human Genome Epidemiology (HuGE) Navigator: COX5A (1 document)

Export disorders for COX5A gene to outside databases

(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)
About This Section

PubMed articles for COX5A gene, integrated from 9 sources (see all 950):
(articles sorted by number of sources associating them with COX5A)

Utopia: connect your pdf to the dynamic
world of online information

Subunit Va of human and bovine cytochrome c oxidase is highly conserved. (PubMed id 2853101)^{1, 2, 3} Rizzuto R.... Schon E.A. (1988)
Molecular evolution of the cytochrome c oxidase subunit 5A gene in primates. (PubMed id 18197981)^{1, 2} Uddin M.... Grossman L.I. (2008)
Assignment of the human genes coding for cytochrome c oxidase subunits Va (COX5A), VIc (COX6C) and VIIc (COX7C) to chromosome bands 15q25, 8q22-->q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14-->q21 by FISH and radiation hybrid mapping. (PubMed id 10072584)^{1, 3} Hofmann S.... Meitinger T. (1998)
The major protein expression profile and two-dimensional protein database of human heart. (PubMed id 7498159)^{1, 2} Kovalyov L.I.... Musalyamov A.K. (1995)
Human liver protein map: update 1993. (PubMed id 8313870)^{1, 2} Hughes G.J.... Hochstrasser D.F. (1993)
Involvement of cytochrome c oxidase subunits Va and V b in the regulation of cancer cell metabolism by Bcl-2. (PubMed id 19834492)^{1, 9} Chen Z.X. and Pervaiz S. (2010)
Global landscape of HIV-human protein complexes. (PubMed id 22190034)¹ Jager S....Krogan N.J. (2012)
The role of cytochrome c oxidase subunit Va in non-sma ll cell lung carcinoma cells: association with migration, invasion and predictio n of distant metastasis. (PubMed id 22748147)¹ Chen W.L....Wang L.S. (2012)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
HIV-1 Tat protein directly induces mitochondrial membr ane permeabilization and inactivates cytochrome c oxidase. (PubMed id 22419111)¹ Lecoeur H....Jacotot E. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 9377	HGNC: 2267	AceView: COX5A	Ensembl:ENSG00000178741	euGenes: HUgn9377
ECgene: COX5A	Kegg: 9377	H-InvDB: COX5A

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for COX5A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for COX5A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for COX5A gene:
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cytochrome c oxidase subunit Va

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COX5A Gene

cytochrome c oxidase subunit Va

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