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COX7A2L cytochrome c oxidase subunit 7A2 like [ Homo sapiens (human) ]

Gene ID: 9167, updated on 1-Jun-2020

Summary

Official Symbol
COX7A2Lprovided by HGNC
Official Full Name
cytochrome c oxidase subunit 7A2 likeprovided by HGNC
Primary source
HGNC:HGNC:2289
See related
Ensembl:ENSG00000115944 MIM:605771
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
EB1; SIG81; COX7AR; COX7RP
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 similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]
Expression
Ubiquitous expression in adrenal (RPKM 37.4), kidney (RPKM 24.0) and 25 other tissues See more
Orthologs

Genomic context

See COX7A2L in Genome Data Viewer
Location:
2p21
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (42335559..42368957, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (42577640..42596150, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene EMAP like 4 Neighboring gene uncharacterized LOC107985874 Neighboring gene uncharacterized LOC107985873 Neighboring gene uncharacterized LOC105374537 Neighboring gene potassium voltage-gated channel modifier subfamily G member 3 Neighboring gene voltage dependent anion channel 1 pseudogene 13

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?

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
cytochrome-c oxidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
mitochondrial electron transport, cytochrome c to oxygen TAS
Traceable Author Statement
more info
 
mitochondrial respiratory chain supercomplex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of oxidative phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial respiratory chain IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
cytochrome c oxidase subunit 7A-related protein, mitochondrial
Names
COX7a-related protein
cytochrome c oxidase subunit VII-related protein
cytochrome c oxidase subunit VIIa polypeptide 2 like
cytochrome c oxidase subunit VIIa-related protein
estrogen receptor binding CpG island

NCBI Reference Sequences (RefSeq)

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_001319036.1NP_001305965.1  cytochrome c oxidase subunit 7A-related protein, mitochondrial isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an upstream promoter and has a longer 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AA890657, AC006038, AK092911
    Consensus CDS
    CCDS1808.1
    UniProtKB/Swiss-Prot
    O14548
    UniProtKB/TrEMBL
    Q6FGA0
    Related
    ENSP00000367938.1, ENST00000378669.5
    Conserved Domains (1) summary
    cd00928
    Location:56110
    Cyt_c_Oxidase_VIIa; Cytochrome c oxidase subunit VIIa. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...
  2. NM_001319037.1NP_001305966.1  cytochrome c oxidase subunit 7A-related protein, mitochondrial isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an upstream promoter and differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
    Source sequence(s)
    AA890657, AK092911, CF593726
    UniProtKB/TrEMBL
    Q6FGA0
    Conserved Domains (1) summary
    cd00928
    Location:53107
    Cyt_c_Oxidase_VIIa; Cytochrome c oxidase subunit VIIa. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...
  3. NM_001319038.2NP_001305967.1  cytochrome c oxidase subunit 7A-related protein, mitochondrial isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC006038, BF130603, CA336587
  4. NM_001319040.1NP_001305969.1  cytochrome c oxidase subunit 7A-related protein, mitochondrial isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice junction in the 3' end compared to variant 1, that causes a frameshift. The resulting isoform (d) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AA890657, BC005251, BF130603, CD700827
    UniProtKB/Swiss-Prot
    O14548
  5. NM_004718.4NP_004709.2  cytochrome c oxidase subunit 7A-related protein, mitochondrial isoform a

    See identical proteins and their annotated locations for NP_004709.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AA890657, AC006038, BC005251, BF130603
    Consensus CDS
    CCDS1808.1
    UniProtKB/Swiss-Prot
    O14548
    UniProtKB/TrEMBL
    Q6FGA0
    Related
    ENSP00000234301.2, ENST00000234301.3
    Conserved Domains (1) summary
    cd00928
    Location:56110
    Cyt_c_Oxidase_VIIa; Cytochrome c oxidase subunit VIIa. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...

RNA

  1. NR_134947.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate splice junction in the 5' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA890657, AC006038, BC005251, BF130603, BI598394
  2. NR_134948.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate first exon compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AA890657, AK130281, BC005251
    Related
    ENST00000482463.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    42335559..42368957 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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