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COX11 cytochrome c oxidase copper chaperone COX11 [ Homo sapiens (human) ]

Gene ID: 1353, updated on 4-Jul-2021

Summary

Official Symbol
COX11provided by HGNC
Official Full Name
cytochrome c oxidase copper chaperone COX11provided by HGNC
Primary source
HGNC:HGNC:2261
See related
Ensembl:ENSG00000166260 MIM:603648
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
COX11P
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]
Expression
Ubiquitous expression in duodenum (RPKM 10.0), kidney (RPKM 6.9) and 25 other tissues See more
Orthologs
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Genomic context

See COX11 in Genome Data Viewer
Location:
17q22
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (54951898..54968785, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (53029263..53046146, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 14 Neighboring gene protein GVQW1-like Neighboring gene target of myb1 like 1 membrane trafficking protein Neighboring gene syntaxin binding protein 4 Neighboring gene uncharacterized LOC107985002 Neighboring gene VISTA enhancer hs2291 Neighboring gene HLF transcription factor, PAR bZIP family member

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables copper ion binding IEA
Inferred from Electronic Annotation
more info
 
enables electron transfer activity TAS
Traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in electron transport chain IEA
Inferred from Electronic Annotation
more info
 
involved_in metal ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of glucokinase activity IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cytochrome c oxidase assembly protein COX11, mitochondrial
Names
COX11 homolog, cytochrome c oxidase assembly protein
COX11, cytochrome c oxidase copper chaperone
cytochrome c oxidase subunit 11

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001162861.2NP_001156333.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region resulting in a frameshift, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK293851, BF725369, BM975167, W33157
    UniProtKB/TrEMBL
    B4DEY8
    Conserved Domains (1) summary
    cl01240
    Location:62216
    CtaG_Cox11; Cytochrome c oxidase assembly protein CtaG/Cox11
  2. NM_001162862.2NP_001156334.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region resulting in a frameshift, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI828544, AK293851, BF725369, W33157
    Consensus CDS
    CCDS58579.1
    UniProtKB/TrEMBL
    B4DEY8
    Conserved Domains (1) summary
    cl01240
    Location:62216
    CtaG_Cox11; Cytochrome c oxidase assembly protein CtaG/Cox11
  3. NM_001321518.1NP_001308447.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform 4

    Status: REVIEWED

    Source sequence(s)
    AK295381, BF725369, CA306557
    Consensus CDS
    CCDS82162.1
    UniProtKB/TrEMBL
    B4DI26
    Related
    ENSP00000460043.1, ENST00000571584.1
    Conserved Domains (1) summary
    cl01240
    Location:62216
    CtaG_Cox11; Cytochrome c oxidase assembly protein CtaG/Cox11
  4. NM_004375.5NP_004366.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_004366.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC007485, AK293851, BF725369, W33157
    Consensus CDS
    CCDS11583.1
    UniProtKB/Swiss-Prot
    Q9Y6N1
    UniProtKB/TrEMBL
    B4DEY8
    Related
    ENSP00000299335.3, ENST00000299335.8
    Conserved Domains (1) summary
    PTZ00128
    Location:62265
    PTZ00128; cytochrome c oxidase assembly protein-like; Provisional

RNA

  1. NR_027941.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents an alternate splice pattern in the 3' UTR, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI500638, AK293851, BF725369, BM975167
  2. NR_027942.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents an alternate splice pattern in the 3' UTR, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI500638, AI828544, AK293851, BF725369
  3. NR_135677.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007485, AF044321, BF725369

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    54951898..54968785 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024196.2XP_016879685.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    Q9Y6N1
    Related
    ENSP00000459302.1, ENST00000572558.5
    Conserved Domains (1) summary
    cl01240
    Location:62216
    CtaG_Cox11; Cytochrome c oxidase assembly protein CtaG/Cox11
  2. XM_024450583.1XP_024306351.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl01240
    Location:62216
    CtaG_Cox11; Cytochrome c oxidase assembly protein CtaG/Cox11
  3. XM_024450584.1XP_024306352.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl01240
    Location:62216
    CtaG_Cox11; Cytochrome c oxidase assembly protein CtaG/Cox11
  4. XM_017024193.2XP_016879682.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q9Y6N1
    Related
    ENSP00000459901.1, ENST00000576370.5
    Conserved Domains (1) summary
    PTZ00128
    Location:62265
    PTZ00128; cytochrome c oxidase assembly protein-like; Provisional
  5. XM_011524342.3XP_011522644.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011522644.1

    UniProtKB/Swiss-Prot
    Q9Y6N1
    Conserved Domains (1) summary
    PTZ00128
    Location:62265
    PTZ00128; cytochrome c oxidase assembly protein-like; Provisional
  6. XM_017024192.2XP_016879681.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q9Y6N1
    Conserved Domains (1) summary
    PTZ00128
    Location:62265
    PTZ00128; cytochrome c oxidase assembly protein-like; Provisional
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