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Protein

Cytochrome c oxidase assembly protein COX14

Gene

COX14

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000178449-MONOMER.
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

HGNCiHGNC:28216. COX14.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei15 – 37HelicalSequence analysisAdd BLAST23

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial membrane Source: UniProtKB-SubCell
  • mitochondrion Source: UniProtKB
Complete GO annotation...

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.

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

MaxQBiQ96I36.
PaxDbiQ96I36.
PeptideAtlasiQ96I36.
PRIDEiQ96I36.
TopDownProteomicsiQ96I36.

PTM databases

iPTMnetiQ96I36.
PhosphoSitePlusiQ96I36.

Expressioni

Gene expression databases

BgeeiENSG00000178449.
CleanExiHS_C12orf62.
GenevisibleiQ96I36. HS.

Organism-specific databases

HPAiHPA044618.

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. 2 interactors.
IntActiQ96I36. 4 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

InterProiIPR029208. COX14.
[Graphical view]
PfamiPF14880. COX14. 1 hit.
[Graphical view]

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 rs587776904dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ96I36.
SMRiQ96I36.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124413. 2 interactors.
IntActiQ96I36. 4 interactors.
STRINGi9606.ENSP00000326052.

PTM databases

iPTMnetiQ96I36.
PhosphoSitePlusiQ96I36.

Polymorphism and mutation databases

BioMutaiCOX14.
DMDMi74732019.

Proteomic databases

MaxQBiQ96I36.
PaxDbiQ96I36.
PeptideAtlasiQ96I36.
PRIDEiQ96I36.
TopDownProteomicsiQ96I36.

Protocols and materials databases

DNASUi84987.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi84987.
DisGeNETi84987.
GeneCardsiCOX14.
HGNCiHGNC:28216. COX14.
HPAiHPA044618.
MalaCardsiCOX14.
MIMi614478. gene.
neXtProtiNX_Q96I36.
OpenTargetsiENSG00000178449.
Orphaneti254905. Isolated cytochrome C oxidase deficiency.
PharmGKBiPA143485391.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000178449-MONOMER.
ReactomeiR-HSA-5628897. TP53 Regulates Metabolic Genes.
R-HSA-611105. Respiratory electron transport.

Miscellaneous databases

GenomeRNAii84987.
PROiQ96I36.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000178449.
CleanExiHS_C12orf62.
GenevisibleiQ96I36. HS.

Family and domain databases

InterProiIPR029208. COX14.
[Graphical view]
PfamiPF14880. COX14. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCOX14_HUMAN
AccessioniPrimary (citable) accession number: Q96I36
Secondary accession number(s): B2R5G6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 12, 2006
Last sequence update: December 1, 2001
Last modified: November 2, 2016
This is version 97 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.