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COX4I1 - cytochrome c oxidase subunit 4I1 Gene

Also Known as COX4; COXIV; COX4-1; COXIV-1; MC4DN16; COX IV-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1327

About COX4I1

Cytogenetic location: 16q24.1 Genomic coordinates (GRCh38): 16:85,799,695-85,807,068 (from NCBI)

This gene has 18 transcripts (splice variants), 213 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 267.7), duodenum (RPKM 151.5) and 25 other tissues.

Summary

Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. Pseudogenes related to this gene are located on chromosomes 13 and 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

COX4I1 Products (6)

mRNA	Protein	Name
NM_001318786.3	NP_001305715.1	cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 1 precursor
NM_001318788.2	NP_001305717.1	cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 2 precursor
NM_001318794.2	NP_001305723.1	cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 3 precursor
NM_001318797.3	NP_001305726.1	cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 4
NM_001318802.2	NP_001305731.1	cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 5
NM_001861.6	NP_001852.1	cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23260140	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	30030519	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	15565177	GOA
part of respiratory chain complex IV	IMP IMP: Inferred from mutant phenotype	19393246	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

COX4I1 Protein Structure

COX4

0
100
169 a.a.

Protein Preferred Names	Protein Names
cytochrome c oxidase subunit 4 isoform 1, mitochondrial	cytochrome c oxidase polypeptide IV

COX4I1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	COX4I1	P13073	MT-CO1	Homo sapiens	P00395	BN-PAGE	23260140
Intra	COX4I1	P13073	MT-CO1	Homo sapiens	P00395	Anti Tag CoIP	33961781
Intra	COX4I1	P13073	DBT	Homo sapiens	P11182	Anti Tag CoIP	33961781
Intra	COX4I1	P13073	DBT	Homo sapiens	P11182	Anti Tag CoIP	28514442
Intra	COX4I1	P13073	SDCBP	Homo sapiens	O00560	Y2H Array	31515488

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant COX4I1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72150	COX4I1 Protein, Human (His-SUMO)	P13073 (A23-K169)	≥ 90%, as determined by reducing SDS-PAGE.

COX4I1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80089	COX IV Antibody (YA494)	WB, ICC/IF, IHC-P, IP, FC	Human, Mouse, Rat
HY-P81025	COX IV Antibody (YA867)	WB, IHC-F, IHC-P, ICC/IF, IP, FC	Human, Mouse, Rat, Hamster, Goat, Monkey
HY-P84080	COX IV Antibody (YA3777)	WB, ICC/IF, FC, ELISA	Human, Mouse, Rat, Monkey
HY-P84080A	COX IV Antibody (YA3777)(PBS only)	WB, ICC/IF, FC, ELISA	Human, Mouse, Rat, Monkey
HY-P85495	COX IV Antibody (YA5187)	WB, IHC-P, ICC/IF, IP, FC	Human, Mouse, Rat, Hamster, Goat, Monkey
HY-P85642	COX IV Antibody(HRP) (YA5334)	WB, IHC-P	Human, Rat, Mouse
HY-P85649	COX IV Antibody (YA5341)	WB, ICC/IF, ELISA, IHC-P	Human, Mouse, Rat
HY-P86705	COX IV Antibody (YA6397)	IHC-P, IHC-F, IF-Tissue, WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	MC4DN16 Mitochondrial Complex 4 Deficiency, Nuclear Type 16
Isolated Cytochrome C Oxidase Deficiency	Isolated Cox Deficiency Isolated Mitochondrial Respiratory Chain Complex Iv Deficiency
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
Exocrine Pancreatic Insufficiency
Microcephaly 7, Primary, Autosomal Recessive	MCPH7 Primary Autosomal Recessive Microcephaly 7 Microcephaly, Primary Autosomal Recessive, 7
Hyperostosis	Hypertrophy Of Bone Bone Hypertrophy Bone Thickening Periosteum Thickening
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
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
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

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-RS03064	COX4I1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19251	Cox4i1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25740	Cox4i1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	COX4I1	MGD	MGI:88473
Bos taurus	COX4I1	VGNC	VGNC:27634
Rattus norvegicus	COX4I1	RGD	RGD:68374
Canis familiaris	COX4I1	VGNC	VGNC:39539
Macaca mulatta	COX4I1	VGNC	VGNC:99503
Others	COX4I1	NCBI