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UniProtKB - Q96I36 (COX14_HUMAN)
Protein
Cytochrome c oxidase assembly protein COX14
Gene
COX14
Organism
Homo sapiens (Human)
Status
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 PublicationsGO - Biological processi
- mitochondrial cytochrome c oxidase assembly Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q96I36 |
Reactomei | R-HSA-5628897, TP53 Regulates Metabolic Genes R-HSA-611105, Respiratory electron transport R-HSA-9707564, Cytoprotection by HMOX1 |
SignaLinki | Q96I36 |
Names & Taxonomyi
Protein namesi | Recommended name: Cytochrome c oxidase assembly protein COX14 |
Gene namesi | Name:COX14 Synonyms:C12orf62 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:28216, COX14 |
MIMi | 614478, gene |
neXtProti | NX_Q96I36 |
VEuPathDBi | HostDB:ENSG00000178449 |
Subcellular locationi
Mitochondrion
- Mitochondrion membrane 2 Publications; Single-pass membrane protein 2 Publications
Mitochondrion
- mitochondrial membrane Source: UniProtKB-SubCell
- mitochondrion Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 15 – 37 | HelicalSequence analysisAdd BLAST | 23 |
Keywords - Cellular componenti
Membrane, MitochondrionPathology & Biotechi
Involvement in diseasei
Mitochondrial complex IV deficiency, nuclear type 10 (MC4DN10)1 Publication
The disease may be caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive mitochondrial disorder that manifests with neonatal neurological and respiratory distress. Clinical features include facial dysmorphism, hypotelorism, microphthalmia, an ogival palate, and severe metabolic acidosis. Death occurs in early infancy. Autoptic examination reveals brain hypertrophy, diffuse alteration of white matter myelination, numerous cavities in the parieto-occipital region, brainstem and cerebellum, as well as hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal hyperplasia. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067038 | 19 | M → I in MC4DN10. 1 PublicationCorresponds to variant dbSNP:rs587776904EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 84987 |
MalaCardsi | COX14 |
MIMi | 619053, phenotype |
OpenTargetsi | ENSG00000178449 |
Orphaneti | 254905, Isolated cytochrome C oxidase deficiency |
PharmGKBi | PA143485391 |
Miscellaneous databases
Pharosi | Q96I36, Tbio |
Genetic variation databases
BioMutai | COX14 |
DMDMi | 74732019 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000263677 | 1 – 57 | Cytochrome c oxidase assembly protein COX14Add BLAST | 57 |
Proteomic databases
jPOSTi | Q96I36 |
MassIVEi | Q96I36 |
MaxQBi | Q96I36 |
PaxDbi | Q96I36 |
PeptideAtlasi | Q96I36 |
PRIDEi | Q96I36 |
ProteomicsDBi | 76810 |
TopDownProteomicsi | Q96I36 |
PTM databases
iPTMneti | Q96I36 |
PhosphoSitePlusi | Q96I36 |
Expressioni
Gene expression databases
Bgeei | ENSG00000178449, Expressed in quadriceps femoris and 216 other tissues |
Genevisiblei | Q96I36, HS |
Organism-specific databases
HPAi | ENSG00000178449, Low tissue specificity |
Interactioni
Subunit structurei
Along with COA3, core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex.
1 PublicationBinary interactionsi
Q96I36
With | #Exp. | IntAct |
---|---|---|
MESD [Q14696] | 3 | EBI-6570698,EBI-6165891 |
Protein-protein interaction databases
BioGRIDi | 124413, 146 interactors |
CORUMi | Q96I36 |
IntActi | Q96I36, 143 interactors |
STRINGi | 9606.ENSP00000446524 |
Miscellaneous databases
RNActi | Q96I36, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q96I36 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502SCZ6, Eukaryota |
GeneTreei | ENSGT00390000002190 |
HOGENOMi | CLU_209431_0_0_1 |
InParanoidi | Q96I36 |
OMAi | VYHYFQR |
OrthoDBi | 1641370at2759 |
PhylomeDBi | Q96I36 |
TreeFami | TF338398 |
Family and domain databases
InterProi | View protein in InterPro IPR029208, COX14 |
PANTHERi | PTHR36684, PTHR36684, 1 hit |
Pfami | View protein in Pfam PF14880, COX14, 1 hit |
i Sequence
Sequence statusi: Complete.
Q96I36-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MPTGKQLADI GYKTFSTSMM LLTVYGGYLC SVRVYHYFQW RRAQRQAAEE
QKTSGIM
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067038 | 19 | M → I in MC4DN10. 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 |
CCDSi | CCDS8800.1 |
RefSeqi | NP_001244062.1, NM_001257133.1 NP_001244063.1, NM_001257134.1 NP_116290.1, NM_032901.3 |
Genome annotation databases
Ensembli | ENST00000317943.6; ENSP00000326052.2; ENSG00000178449.9 ENST00000548985.1; ENSP00000447776.1; ENSG00000178449.9 ENST00000550487.6; ENSP00000446524.1; ENSG00000178449.9 ENST00000550654.1; ENSP00000450331.1; ENSG00000178449.9 |
GeneIDi | 84987 |
KEGGi | hsa:84987 |
MANE-Selecti | ENST00000550487.6; ENSP00000446524.1; NM_032901.4; NP_116290.1 |
UCSCi | uc001rwb.3, human |
Similar proteinsi
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 |
CCDSi | CCDS8800.1 |
RefSeqi | NP_001244062.1, NM_001257133.1 NP_001244063.1, NM_001257134.1 NP_116290.1, NM_032901.3 |
3D structure databases
AlphaFoldDBi | Q96I36 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 124413, 146 interactors |
CORUMi | Q96I36 |
IntActi | Q96I36, 143 interactors |
STRINGi | 9606.ENSP00000446524 |
PTM databases
iPTMneti | Q96I36 |
PhosphoSitePlusi | Q96I36 |
Genetic variation databases
BioMutai | COX14 |
DMDMi | 74732019 |
Proteomic databases
jPOSTi | Q96I36 |
MassIVEi | Q96I36 |
MaxQBi | Q96I36 |
PaxDbi | Q96I36 |
PeptideAtlasi | Q96I36 |
PRIDEi | Q96I36 |
ProteomicsDBi | 76810 |
TopDownProteomicsi | Q96I36 |
Protocols and materials databases
Antibodypediai | 49669, 11 antibodies from 6 providers |
DNASUi | 84987 |
Genome annotation databases
Ensembli | ENST00000317943.6; ENSP00000326052.2; ENSG00000178449.9 ENST00000548985.1; ENSP00000447776.1; ENSG00000178449.9 ENST00000550487.6; ENSP00000446524.1; ENSG00000178449.9 ENST00000550654.1; ENSP00000450331.1; ENSG00000178449.9 |
GeneIDi | 84987 |
KEGGi | hsa:84987 |
MANE-Selecti | ENST00000550487.6; ENSP00000446524.1; NM_032901.4; NP_116290.1 |
UCSCi | uc001rwb.3, human |
Organism-specific databases
CTDi | 84987 |
DisGeNETi | 84987 |
GeneCardsi | COX14 |
HGNCi | HGNC:28216, COX14 |
HPAi | ENSG00000178449, Low tissue specificity |
MalaCardsi | COX14 |
MIMi | 614478, gene 619053, phenotype |
neXtProti | NX_Q96I36 |
OpenTargetsi | ENSG00000178449 |
Orphaneti | 254905, Isolated cytochrome C oxidase deficiency |
PharmGKBi | PA143485391 |
VEuPathDBi | HostDB:ENSG00000178449 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502SCZ6, Eukaryota |
GeneTreei | ENSGT00390000002190 |
HOGENOMi | CLU_209431_0_0_1 |
InParanoidi | Q96I36 |
OMAi | VYHYFQR |
OrthoDBi | 1641370at2759 |
PhylomeDBi | Q96I36 |
TreeFami | TF338398 |
Enzyme and pathway databases
PathwayCommonsi | Q96I36 |
Reactomei | R-HSA-5628897, TP53 Regulates Metabolic Genes R-HSA-611105, Respiratory electron transport R-HSA-9707564, Cytoprotection by HMOX1 |
SignaLinki | Q96I36 |
Miscellaneous databases
BioGRID-ORCSi | 84987, 45 hits in 1071 CRISPR screens |
ChiTaRSi | COX14, human |
GenomeRNAii | 84987 |
Pharosi | Q96I36, Tbio |
PROi | PR:Q96I36 |
RNActi | Q96I36, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000178449, Expressed in quadriceps femoris and 216 other tissues |
Genevisiblei | Q96I36, HS |
Family and domain databases
InterProi | View protein in InterPro IPR029208, COX14 |
PANTHERi | PTHR36684, PTHR36684, 1 hit |
Pfami | View protein in Pfam PF14880, COX14, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | COX14_HUMAN | |
Accessioni | Q96I36Primary (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: | May 25, 2022 | |
This is version 128 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot