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Protein

Cytochrome c oxidase assembly protein COX15 homolog

Gene

COX15

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May be involved in the biosynthesis of heme A.1 Publication

Pathwayi: heme A biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes heme A from heme O.
Proteins known to be involved in this subpathway in this organism are:
  1. Cytochrome c oxidase assembly protein COX15 homolog (COX15)
This subpathway is part of the pathway heme A biosynthesis, which is itself part of Porphyrin-containing compound metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes heme A from heme O, the pathway heme A biosynthesis and in Porphyrin-containing compound metabolism.

GO - Molecular functioni

  • cytochrome-c oxidase activity Source: UniProtKB
  • oxidoreductase activity, acting on the CH-CH group of donors Source: Reactome

GO - Biological processi

  • cellular respiration Source: HGNC
  • heme a biosynthetic process Source: HGNC
  • heme biosynthetic process Source: Reactome
  • mitochondrial electron transport, cytochrome c to oxygen Source: HGNC
  • oxidation-reduction process Source: UniProtKB
  • proton transmembrane transport Source: BHF-UCL
  • respiratory chain complex IV assembly Source: HGNC
  • respiratory gaseous exchange Source: UniProtKB

Enzyme and pathway databases

ReactomeiR-HSA-189451 Heme biosynthesis
UniPathwayiUPA00269; UER00713

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome c oxidase assembly protein COX15 homolog
Gene namesi
Name:COX15
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000014919.12
HGNCiHGNC:2263 COX15
MIMi603646 gene
neXtProtiNX_Q7KZN9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei68 – 88HelicalSequence analysisAdd BLAST21
Transmembranei154 – 171HelicalSequence analysisAdd BLAST18
Transmembranei184 – 204HelicalSequence analysisAdd BLAST21
Transmembranei227 – 247HelicalSequence analysisAdd BLAST21
Transmembranei269 – 289HelicalSequence analysisAdd BLAST21
Transmembranei324 – 344HelicalSequence analysisAdd BLAST21
Transmembranei357 – 377HelicalSequence analysisAdd BLAST21
Transmembranei382 – 402HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (CEMCOX2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn infantile disorder, with a rapidly progressive fatal course, characterized by cytochrome c oxidase deficiency. Clinical features include microcephaly, encephalopathy, hypertrophic cardiomyopathy, persistent lactic acidosis, respiratory distress, hypotonia and seizures. Postmortem cardiac muscle studies show marked complex IV deficiency. Complex IV activity is only slightly decreased in the skeletal muscle.
See also OMIM:615119
Leigh syndrome (LS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.
See also OMIM:256000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033117344S → P in LS. 1 PublicationCorresponds to variant dbSNP:rs397514662EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Leigh syndrome, Primary mitochondrial disease

Organism-specific databases

DisGeNETi1355
MalaCardsiCOX15
MIMi256000 phenotype
615119 phenotype
OpenTargetsiENSG00000014919
Orphaneti1561 Fatal infantile cytochrome C oxidase deficiency
70474 Leigh syndrome with cardiomyopathy
PharmGKBiPA26779

Polymorphism and mutation databases

BioMutaiCOX15
DMDMi51315906

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001839311 – 410Cytochrome c oxidase assembly protein COX15 homologAdd BLAST410

Proteomic databases

EPDiQ7KZN9
MaxQBiQ7KZN9
PaxDbiQ7KZN9
PeptideAtlasiQ7KZN9
PRIDEiQ7KZN9
ProteomicsDBi68724
68725 [Q7KZN9-2]
TopDownProteomicsiQ7KZN9-1 [Q7KZN9-1]

PTM databases

iPTMnetiQ7KZN9
PhosphoSitePlusiQ7KZN9

Expressioni

Tissue specificityi

Predominantly found in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain.1 Publication

Gene expression databases

BgeeiENSG00000014919
CleanExiHS_COX15
GenevisibleiQ7KZN9 HS

Organism-specific databases

HPAiHPA037727
HPA037728
HPA066096

Interactioni

Protein-protein interaction databases

BioGridi107747, 197 interactors
CORUMiQ7KZN9
IntActiQ7KZN9, 20 interactors
MINTiQ7KZN9
STRINGi9606.ENSP00000016171

Structurei

3D structure databases

ProteinModelPortaliQ7KZN9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the COX15/CtaA family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2725 Eukaryota
COG1612 LUCA
GeneTreeiENSGT00390000002223
HOVERGENiHBG051086
InParanoidiQ7KZN9
KOiK02259
OMAiAGLIYNT
OrthoDBiEOG091G08NN
PhylomeDBiQ7KZN9
TreeFamiTF105073

Family and domain databases

HAMAPiMF_01665 HemeA_synth_type2, 1 hit
InterProiView protein in InterPro
IPR003780 COX15/CtaA_fam
IPR023754 HemeA_Synthase_type2
IPR009003 Peptidase_S1_PA
PANTHERiPTHR23289 PTHR23289, 1 hit
PfamiView protein in Pfam
PF02628 COX15-CtaA, 1 hit
SUPFAMiSSF50494 SSF50494, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7KZN9-1) [UniParc]FASTAAdd to basket
Also known as: COX15.1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQRLLFPPLR ALKGRQYLPL LAPRAAPRAQ CDCIRRPLRP GQYSTISEVA
60 70 80 90 100
LQSGRGTVSL PSKAAERVVG RWLLVCSGTV AGAVILGGVT RLTESGLSMV
110 120 130 140 150
DWHLIKEMKP PTSQEEWEAE FQRYQQFPEF KILNHDMTLT EFKFIWYMEY
160 170 180 190 200
SHRMWGRLVG LVYILPAAYF WRKGWLSRGM KGRVLALCGL VCFQGLLGWY
210 220 230 240 250
MVKSGLEEKS DSHDIPRVSQ YRLAAHLGSA LVLYCASLWT SLSLLLPPHK
260 270 280 290 300
LPETHQLLQL RRFAHGTAGL VFLTALSGAF VAGLDAGLVY NSFPKMGESW
310 320 330 340 350
IPEDLFTFSP ILRNVFENPT MVQFDHRILG ITSVTAITVL YFLSRRIPLP
360 370 380 390 400
RRTKMAAVTL LALAYTQVGL GISTLLMYVP TPLAATHQSG SLALLTGALW
410
LMNELRRVPK
Length:410
Mass (Da):46,030
Last modified:July 5, 2004 - v1
Checksum:i98E9FD9D1D28EFC0
GO
Isoform 2 (identifier: Q7KZN9-2) [UniParc]FASTAAdd to basket
Also known as: COX15.2

The sequence of this isoform differs from the canonical sequence as follows:
     368-410: VGLGISTLLMYVPTPLAATHQSGSLALLTGALWLMNELRRVPK → GPVLFNFTFKISDLDEGIRNI

Show »
Length:388
Mass (Da):43,835
Checksum:i92A2DAEF334460BB
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti28R → K in AAD08639 (PubMed:9878253).Curated1
Sequence conflicti28R → K in AAD08646 (PubMed:9878253).Curated1
Sequence conflicti93T → A in CAD97781 (Ref. 3) Curated1
Isoform 2 (identifier: Q7KZN9-2)
Sequence conflicti374F → L in AAD08646 (PubMed:9878253).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019596217R → W in CEMCOX2 and LS. 3 PublicationsCorresponds to variant dbSNP:rs28939711EnsemblClinVar.1
Natural variantiVAR_033117344S → P in LS. 1 PublicationCorresponds to variant dbSNP:rs397514662EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_011281368 – 410VGLGI…RRVPK → GPVLFNFTFKISDLDEGIRN I in isoform 2. 1 PublicationAdd BLAST43

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF026850 mRNA Translation: AAD08639.1
AF044323 mRNA Translation: AAD08646.1
BT007129 mRNA Translation: AAP35793.1
AK291654 mRNA Translation: BAF84343.1
BX537557 mRNA Translation: CAD97781.1
AL133353 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49857.1
BC002382 mRNA Translation: AAH02382.3
BC013403 mRNA Translation: AAH13403.1
BC078161 mRNA Translation: AAH78161.1
CCDSiCCDS7481.1 [Q7KZN9-2]
CCDS7482.1 [Q7KZN9-1]
RefSeqiNP_001307903.1, NM_001320974.1
NP_001307904.1, NM_001320975.1
NP_001307905.1, NM_001320976.1
NP_004367.2, NM_004376.6 [Q7KZN9-2]
NP_510870.1, NM_078470.5 [Q7KZN9-1]
UniGeneiHs.28326

Genome annotation databases

EnsembliENST00000016171; ENSP00000016171; ENSG00000014919 [Q7KZN9-1]
ENST00000370483; ENSP00000359514; ENSG00000014919 [Q7KZN9-2]
GeneIDi1355
KEGGihsa:1355
UCSCiuc001kqb.5 human [Q7KZN9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiCOX15_HUMAN
AccessioniPrimary (citable) accession number: Q7KZN9
Secondary accession number(s): A8K6I9
, O60556, O75878, Q5TD00, Q5TD01, Q7Z3Q3, Q9NTN0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: July 5, 2004
Last modified: June 20, 2018
This is version 138 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

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