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Protein

Cytochrome c oxidase assembly protein COX14

Gene

COX14

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

Functioni

Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Requires for coordination of the early steps of cytochrome c oxidase assembly with the synthesis of MT-CO1.2 Publications

GO - Biological processi

  • mitochondrial respiratory chain complex IV assembly Source: UniProtKB

Enzyme and pathway databases

ReactomeiR-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-611105 Respiratory electron transport

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome c oxidase assembly protein COX14
Gene namesi
Name:COX14
Synonyms:C12orf62
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000178449.8
HGNCiHGNC:28216 COX14
MIMi614478 gene
neXtProtiNX_Q96I36

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
Transmembranei15 – 37HelicalSequence analysisAdd BLAST23

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Defects in COX14 may be a cause of a mitochondrial disorder presenting with severe congenital lactic acidosis and dysmorphic features associated with a COX assembly defect. Other features include brain hypertrophy, diffuse alteration of the white-matter myelination, and numerous cavities in the parieto-occipital region, brainstem, and cerebellum, as well as hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal-gland hyperplasia.1 Publication

Keywords - Diseasei

Primary mitochondrial disease

Organism-specific databases

DisGeNETi84987
MalaCardsiCOX14
OpenTargetsiENSG00000178449
Orphaneti254905 Isolated cytochrome C oxidase deficiency
PharmGKBiPA143485391

Polymorphism and mutation databases

BioMutaiCOX14
DMDMi74732019

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002636771 – 57Cytochrome c oxidase assembly protein COX14Add BLAST57

Proteomic databases

EPDiQ96I36
MaxQBiQ96I36
PaxDbiQ96I36
PeptideAtlasiQ96I36
PRIDEiQ96I36
ProteomicsDBi76810
TopDownProteomicsiQ96I36

PTM databases

iPTMnetiQ96I36
PhosphoSitePlusiQ96I36

Expressioni

Gene expression databases

BgeeiENSG00000178449
CleanExiHS_C12orf62
GenevisibleiQ96I36 HS

Organism-specific databases

HPAiHPA044618
HPA062014

Interactioni

Subunit structurei

Along with COA3, core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex.1 Publication

Protein-protein interaction databases

BioGridi124413, 5 interactors
CORUMiQ96I36
IntActiQ96I36, 142 interactors
STRINGi9606.ENSP00000326052

Structurei

3D structure databases

ProteinModelPortaliQ96I36
SMRiQ96I36
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410J2YZ Eukaryota
ENOG410ZEAJ LUCA
GeneTreeiENSGT00390000002190
HOGENOMiHOG000059541
HOVERGENiHBG081243
InParanoidiQ96I36
KOiK18181
OMAiSVRAYRY
OrthoDBiEOG091G19GK
PhylomeDBiQ96I36
TreeFamiTF338398

Family and domain databases

InterProiView protein in InterPro
IPR029208 COX14
PfamiView protein in Pfam
PF14880 COX14, 1 hit

Sequencei

Sequence statusi: Complete.

Q96I36-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPTGKQLADI GYKTFSTSMM LLTVYGGYLC SVRVYHYFQW RRAQRQAAEE

QKTSGIM
Length:57
Mass (Da):6,600
Last modified:December 1, 2001 - v1
Checksum:i974BBDFA78CF7C9A
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06703819M → I Found in a patient with severe congenital lactic acidosis and dysmorphic features associated with a COX assembly defect. 1 PublicationCorresponds to variant dbSNP:rs587776904EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK312180 mRNA Translation: BAG35113.1
AC025154 Genomic DNA No translation available.
AC074032 Genomic DNA No translation available.
CH471111 Genomic DNA Translation: EAW58130.1
BC007849 mRNA Translation: AAH07849.1
CCDSiCCDS8800.1
RefSeqiNP_001244062.1, NM_001257133.1
NP_001244063.1, NM_001257134.1
NP_116290.1, NM_032901.3
UniGeneiHs.388645

Genome annotation databases

EnsembliENST00000317943; ENSP00000326052; ENSG00000178449
ENST00000548985; ENSP00000447776; ENSG00000178449
ENST00000550487; ENSP00000446524; ENSG00000178449
ENST00000550654; ENSP00000450331; ENSG00000178449
GeneIDi84987
KEGGihsa:84987
UCSCiuc001rwb.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCOX14_HUMAN
AccessioniPrimary (citable) accession number: Q96I36
Secondary accession number(s): B2R5G6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 12, 2006
Last sequence update: December 1, 2001
Last modified: June 20, 2018
This is version 107 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 12
    Human chromosome 12: 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

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