COX4I1 - cytochrome c oxidase subunit 4I1 Gene

Homo sapiens

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

Gene ID: 1327 | Gene type: protein coding

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

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

Recombinant COX4I1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72150	COX4I1 Protein, Human (His-SUMO)	P13073 (A23-K169)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03064	COX4I1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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