2. Gene
  3. COX11 - cytochrome c oxidase copper chaperone COX11 Gene

COX11 - cytochrome c oxidase copper chaperone COX11 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as COX11P

Gene ID: 1353 | Gene type: protein coding

About COX11

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:54,951,902-54,968,785 (from NCBI)

This gene has 9 transcripts (splice variants), 212 orthologues and 1 paralogue. Ubiquitous expression in duodenum (RPKM 10.0), kidney (RPKM 6.9) and 25 other tissues.

Summary

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be a heme A biosynthetic Enzyme involved in COX formation, according to the yeast mutant studies. However, the studies in Rhodobacter sphaeroides suggest that this gene is not required for heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium centers of COX. This human protein is predicted to contain a transmembrane domain localized in the mitochondrial inner membrane. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene has been found on chromosome 6. [provided by RefSeq, Jun 2009]

COX11 Products(4)

mRNA Protein Name
NM_001162861.2 NP_001156333.1 cytochrome c oxidase assembly protein COX11, mitochondrial isoform 2
NM_001162862.2 NP_001156334.1 cytochrome c oxidase assembly protein COX11, mitochondrial isoform 3
NM_001321518.1 NP_001308447.1 cytochrome c oxidase assembly protein COX11, mitochondrial isoform 4
NM_004375.5 NP_004366.1 cytochrome c oxidase assembly protein COX11, mitochondrial isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15840172 GOA
Biological Process GO Annotation Evidence Reference Source
involved in ATP biosynthetic process IMP
IMP: Inferred from mutant phenotype
36030551 GOA
involved in intracellular monoatomic cation homeostasis IDA
IDA: Inferred from direct assay
15840172 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
15229189 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
9878253 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
15840172 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

COX11 Protein Structure

CtaG_Cox11

CtaG_Cox11: Cytochrome c oxidase assembly protein CtaG/Cox11 (113 - 263)

  • 0
  • 100
  • 200
  • 276 a.a.
Protein Preferred Names Protein Names

cytochrome c oxidase assembly protein COX11, mitochondrial

COX11 homolog, cytochrome c oxidase assembly protein

COX11 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
COX11 Q9Y6N1 COA4 Homo sapiens Q9NYJ1
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation

Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability

COB1

Coloboma-Microphthalmos Syndrome

Coloboma-Microphthalmos Syndrome Associated With Sensorineural Hearing Loss, Hematuria, And Cleft Lip/Palate

Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome

Ocular Coloboma With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation

Uveal Coloboma-Cleft Lip/Palate-Mental Retardation Syndrome

Uveal Coloboma-Cleft Lip/Palate-Intellectual Disability Syndrome

Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Intellectual Disability

Coloboma, Ocular, With/Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Spinal Muscular Atrophy, Distal, X-Linked 3

SMAX3

Dsmax

X-Linked Distal Spinal Muscular Atrophy Type 3

X-Linked Distal Spinal Muscular Atrophy 3

Atp7a-Related Distal Motor Neuropathy

X-Linked Dhmn3

X-Linked Distal Hereditary Motor Neuropathy Type 3

X-Linked Dsma3

Spinal Muscular Atrophy, Distal, X-Linked Recessive

X-Linked Recessive Distal Spinal Muscular Atrophy

Distal Spinal Muscular Atrophy, X-Linked, 3

DSMAX3

Spinal Muscular Atrophy Distal X-Linked Recessive

Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3
Menkes Disease

Copper Transport Disease

Menkes Syndrome

MNK

Kinky Hair Disease

Steely Hair Disease

Menkes Kinky-Hair Syndrome

Mk

Steely Hair Syndrome

Menkea Syndrome

Md

Menkes Kinky Hair Syndrome

Hypocupremia, Congenital

Kinky Hair Syndrome

X-Linked Copper Deficiency

Menkes Kinky Hair Disease
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
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-RS03057 COX11 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus COX11 VGNC VGNC:98899
Mus musculus COX11 MGD MGI:1917052
Bos taurus COX11 VGNC VGNC:55805
Rattus norvegicus COX11 RGD RGD:9174727
Macaca mulatta COX11 VGNC VGNC:81377
Canis familiaris COX11 VGNC VGNC:55720