COX14

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
Inferred from mutant phenotypeⁱ
- 22243966

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

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

Reactomeⁱ

R-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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 12

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000178449.8
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:28216 COX14
MIMⁱ	614478 gene
neXtProtⁱ	NX_Q96I36

Topology

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Transmembraneⁱ	15 – 37	HelicalSequence analysisAdd BLAST		23

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

DisGeNET More...DisGeNETⁱ	84987
MalaCards human disease database More...MalaCardsⁱ	COX14
Open Targets More...OpenTargetsⁱ	ENSG00000178449
Orphanetⁱ	254905 Isolated cytochrome C oxidase deficiency
PharmGKBⁱ	PA143485391

Polymorphism and mutation 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

EPDⁱ	Q96I36
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q96I36
PaxDbⁱ	Q96I36
PeptideAtlas More...PeptideAtlasⁱ	Q96I36
PRIDEⁱ	Q96I36
ProteomicsDBⁱ	76810
TopDownProteomicsⁱ	Q96I36

PTM databases

iPTMnetⁱ	Q96I36
PhosphoSitePlusⁱ	Q96I36

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000178449
CleanExⁱ	HS_C12orf62
Genevisibleⁱ	Q96I36 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA044618 HPA062014

HPAⁱ

HPA044618
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

BioGridⁱ	124413, 5 interactors
CORUMⁱ	Q96I36
IntActⁱ	Q96I36, 142 interactors
STRINGⁱ	9606.ENSP00000326052

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q96I36
SMRⁱ	Q96I36
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	ENOG410J2YZ Eukaryota ENOG410ZEAJ LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000002190
HOGENOMⁱ	HOG000059541
HOVERGENⁱ	HBG081243
InParanoidⁱ	Q96I36
KEGG Orthology (KO) More...KOⁱ	K18181
OMAⁱ	SVRAYRY
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G19GK
PhylomeDBⁱ	Q96I36
TreeFamⁱ	TF338398

Family and domain databases

InterProⁱ	View protein in InterPro IPR029208 COX14
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF14880 COX14, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

Q96I36-1 [UniParc]FASTA Add 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 key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_067038	19	M → 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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS8800.1
NCBI Reference Sequences More...RefSeqⁱ	NP_001244062.1, NM_001257133.1 NP_001244063.1, NM_001257134.1 NP_116290.1, NM_032901.3
UniGeneⁱ	Hs.388645

Genome annotation databases

Ensemblⁱ	ENST00000317943; ENSP00000326052; ENSG00000178449 ENST00000548985; ENSP00000447776; ENSG00000178449 ENST00000550487; ENSP00000446524; ENSG00000178449 ENST00000550654; ENSP00000450331; ENSG00000178449
GeneIDⁱ	84987
KEGGⁱ	hsa:84987
UCSC genome browser More...UCSCⁱ	uc001rwb.3 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length
Q96I36	COX14 isoform 1		PANTR		57
COX14 isoform 1		PONAB		57
COX14, cytochrome c oxidase assembly factor		CHLSB		57
UPI00053362CB		RHIRO		57
UPI0005F39C9A		COLAP		57
+1

Protein	Similar proteins		Species	Score	Length
Q96I36	COX14 isoform 1		PANTR		57
COX14 isoform 1		PONAB		57
UPI00053362CB		RHIRO		57
UPI0005F4549B		MACNE		57
UPI0005F39C9A		COLAP		57
+46

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS8800.1
NCBI Reference Sequences More...RefSeqⁱ	NP_001244062.1, NM_001257133.1 NP_001244063.1, NM_001257134.1 NP_116290.1, NM_032901.3
UniGeneⁱ	Hs.388645

3D structure databases

ProteinModelPortalⁱ	Q96I36
SMRⁱ	Q96I36
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	124413, 5 interactors
CORUMⁱ	Q96I36
IntActⁱ	Q96I36, 142 interactors
STRINGⁱ	9606.ENSP00000326052

PTM databases

iPTMnetⁱ	Q96I36
PhosphoSitePlusⁱ	Q96I36

Polymorphism and mutation databases

BioMutaⁱ	COX14
DMDMⁱ	74732019

Proteomic databases

EPDⁱ	Q96I36
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q96I36
PaxDbⁱ	Q96I36
PeptideAtlas More...PeptideAtlasⁱ	Q96I36
PRIDEⁱ	Q96I36
ProteomicsDBⁱ	76810
TopDownProteomicsⁱ	Q96I36

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	84987
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000317943; ENSP00000326052; ENSG00000178449 ENST00000548985; ENSP00000447776; ENSG00000178449 ENST00000550487; ENSP00000446524; ENSG00000178449 ENST00000550654; ENSP00000450331; ENSG00000178449
GeneIDⁱ	84987
KEGGⁱ	hsa:84987
UCSC genome browser More...UCSCⁱ	uc001rwb.3 human

Organism-specific databases

CTDⁱ	84987
DisGeNET More...DisGeNETⁱ	84987
EuPathDBⁱ	HostDB:ENSG00000178449.8
GeneCardsⁱ	COX14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:28216 COX14
Human Protein Atlas More...HPAⁱ	HPA044618 HPA062014
MalaCards human disease database More...MalaCardsⁱ	COX14
MIMⁱ	614478 gene
neXtProtⁱ	NX_Q96I36
Open Targets More...OpenTargetsⁱ	ENSG00000178449
Orphanetⁱ	254905 Isolated cytochrome C oxidase deficiency
PharmGKBⁱ	PA143485391
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410J2YZ Eukaryota ENOG410ZEAJ LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000002190
HOGENOMⁱ	HOG000059541
HOVERGENⁱ	HBG081243
InParanoidⁱ	Q96I36
KEGG Orthology (KO) More...KOⁱ	K18181
OMAⁱ	SVRAYRY
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G19GK
PhylomeDBⁱ	Q96I36
TreeFamⁱ	TF338398

Enzyme and pathway databases

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

Reactomeⁱ

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

Miscellaneous databases

ChiTaRSⁱ	COX14 human
GenomeRNAiⁱ	84987
Protein Ontology More...PROⁱ	PR:Q96I36
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000178449
CleanExⁱ	HS_C12orf62
Genevisibleⁱ	Q96I36 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR029208 COX14
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF14880 COX14, 1 hit
ProtoNetⁱ	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:	June 20, 2018
	This is version 107 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

Complete proteome, Reference proteome

Documents

Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

UniProtKB

UniParc

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UniRef

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Supporting data

UniProtKB - Q96I36 (COX14_HUMAN)

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Cytochrome c oxidase assembly protein COX14

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Mitochondrion

Mitochondrion

Other locations

Topology

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Documents

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ