COX14 - cytochrome c oxidase assembly factor COX14 Gene

Also Known as PCAG1; MC4DN10; C12orf62

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84987

About COX14

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:50,112,236-50,120,453 (from NCBI)

This gene has 4 transcripts (splice variants), 108 orthologues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 29.8), heart (RPKM 27.0) and 25 other tissues.

Summary

This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

COX14 Products (3)

mRNA	Protein	Name
NM_001257133.2	NP_001244062.1	cytochrome c oxidase assembly protein COX14
NM_001257134.2	NP_001244063.1	cytochrome c oxidase assembly protein COX14
NM_032901.4	NP_116290.1	cytochrome c oxidase assembly protein COX14

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial cytochrome c oxidase assembly	IMP IMP: Inferred from mutant phenotype	22243966	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial outer membrane	IDA IDA: Inferred from direct assay	27184847	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	22243966	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COX14 Protein Structure

COX14

0
57 a.a.

Protein Preferred Names	Protein Names
cytochrome c oxidase assembly protein COX14	COX14 cytochrome c oxidase assembly homolog

COX14 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	COX14	Q96I36	MESD	Homo sapiens	Q14696	Y2H Array	32296183
Intra	COX14	Q96I36	MESD	Homo sapiens	Q14696	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	MC4DN10 Mitochondrial Complex 4 Deficiency, Nuclear Type 10
Isolated Cytochrome C Oxidase Deficiency	Isolated Cox Deficiency Isolated Mitochondrial Respiratory Chain Complex Iv Deficiency
Renal Hypoplasia
Non-Syndromic X-Linked Intellectual Disability 9	Mrx44 Mrx9 X-Linked Mental Retardation 44
Metabolic Acidosis
Cerebral Amyloid Angiopathy, App-Related	Hchwad Amyloidosis, Cerebroarterial, App-Related Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Iowa Variant Cerebral Amyloid Angiopathy, App-Related, Italian Variant Cerebral Amyloid Angiopathy, App-Related, Flemish Variant Cerebral Amyloid Angiopathy, App-Related, Arctic Variant Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants App-Related Cerebral Amyloid Angiopathy Abetaa21g Amyloidosis Abeta Amyloidosis, Italian Type Abeta Amyloidosis, Arctic Type Abeta Amyloidosis, Iowa Type Abeta Amyloidosis, Dutch Type Hchwa-D Abeta Amyloidosis, Flemish Type Abetaa21g-Related Amyloidosis Hchwa, Flemish Type Hereditary Cerebral Hemorrhage With Amyloidosis, Flemish Type Abetae22k Amyloidosis Hchwa, Italian Type Hereditary Cerebral Hemorrhage With Amyloidosis, Italian Type Abetae22g Amyloidosis Hchwa, Arctic Type Hereditary Cerebral Hemorrhage With Amyloidosis, Arctic Type Abetad23n Amyloidosis Hchwa, Iowa Type Hereditary Cerebral Hemorrhage With Amyloidosis, Iowa Type Abetal34v Amyloidosis Abeta Amyloidosis, Piedmont Type Abetal34v-Related Amyloidosis Hchwa, Piedmont Type Hereditary Cerebral Hemorrhage With Amyloidosis, Piedmont Type Abetae22q Amyloidosis Hchwa, Dutch Type Hereditary Cerebral Hemorrhage With Amyloidosis, Dutch Type CAA-APP Amyloidosis Cerebroarterial App-Related Amyloidosis Hereditary With Cerebral Hemorrhage Dutch Variant Cerebral Amyloid Angiopathy App-Related Arctic Variant Cerebral Amyloid Angiopathy App-Related Dutch Variant Cerebral Amyloid Angiopathy App-Related Flemish Variant Cerebral Amyloid Angiopathy App-Related Iowa Variant Cerebral Amyloid Angiopathy App-Related Italian Variant Familial Occipital Calcifications With Hemorrhagic Strokes Leukoencephalopathy Arterial Dysplasia Dementia Fochs-Ladd Hereditary Cerebral Amyloid Angiopathy Dutch Type Hereditary Cerebral Hemorrhage With Amyloidosis Dutch Type Hereditary Cerebral Hemorrhage With Amyloidosis Italian Type Cerebral Hemorrhage With Amyloidosis, Hereditary, Dutch Type
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency Cox Deficiency Cytochrome-C Oxidase Deficiency Disease MC1DN4 Cytochrome-C Oxidase Deficiency MC4DN1 Mitochondrial Complex I Deficiency, Nuclear Type 4 Complex 4 Mitochondrial Respiratory Chain Deficiency Complex Iv Deficiency Mitochondrial Complex 1 Deficiency, Nuclear Type 4 Nuclear Type Mitochondrial Complex I Deficiency 4 Deficiency Of Mitochondrial Respiratory Chain Complex4 MT-C4D Complex Iv Mitochondrial Respiratory Chain Deficiency Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency, Nuclear, Type 1
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03058	COX14 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21535	Cox14 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28053	Cox14 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	COX14	VGNC	VGNC:39534
Mus musculus	COX14	MGD	MGI:1913629
Rattus norvegicus	COX14	RGD	RGD:1598052
Bos taurus	COX14	VGNC	VGNC:27628
Others	COX14	NCBI