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COX20 cytochrome c oxidase assembly factor COX20 [ Homo sapiens (human) ]

Gene ID: 116228, updated on 7-Jun-2020

Summary

Official Symbol
COX20provided by HGNC
Official Full Name
cytochrome c oxidase assembly factor COX20provided by HGNC
Primary source
HGNC:HGNC:26970
See related
Ensembl:ENSG00000203667 MIM:614698
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
FAM36A
Summary
This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Expression
Ubiquitous expression in thyroid (RPKM 25.6), kidney (RPKM 25.6) and 25 other tissues See more
Orthologs

Genomic context

See COX20 in Genome Data Viewer
Location:
1q44
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (244835306..244845063)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (244998608..245008359)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985372 Neighboring gene uncharacterized LOC112268258 Neighboring gene small nucleolar RNA, H/ACA box 100 Neighboring gene heterogeneous nuclear ribonucleoprotein U Neighboring gene RN7SK pseudogene 55

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ43269

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mitochondrial respiratory chain complex IV assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex IV assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
cytochrome c oxidase assembly protein COX20, mitochondrial
Names
COX20 Cox2 chaperone homolog
COX20, cytochrome c oxidase assembly factor
cytochrome c oxidase protein 20 homolog
family with sequence similarity 36, member A

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.

Genomic

  1. NG_042825.1 RefSeqGene

    Range
    5001..14758
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001312871.1NP_001299800.1  cytochrome c oxidase assembly protein COX20, mitochondrial isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AK000866, DA164934, DA752002, EL947693
    Consensus CDS
    CCDS31080.1
    UniProtKB/Swiss-Prot
    Q5RI15
    UniProtKB/TrEMBL
    B3KM21
    Conserved Domains (1) summary
    pfam12597
    Location:1498
    DUF3767; Protein of unknown function (DUF3767)
  2. NM_001312872.1NP_001299801.1  cytochrome c oxidase assembly protein COX20, mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has a shorter 5' UTR and contains an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is longer than isoform 1.
    Source sequence(s)
    AK000866, BQ189361, DA157561, EL947693
    Consensus CDS
    CCDS81434.1
    UniProtKB/TrEMBL
    B3KM21
    Related
    ENSP00000355486.3, ENST00000366528.3
    Conserved Domains (1) summary
    pfam12597
    Location:25110
    DUF3767; Protein of unknown function (DUF3767)
  3. NM_001312873.1NP_001299802.1  cytochrome c oxidase assembly protein COX20, mitochondrial isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has a shorter 5' UTR, lacks an exon and uses an alternate splice site in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    BX323046
    Conserved Domains (1) summary
    pfam12597
    Location:1053
    DUF3767; Protein of unknown function (DUF3767)
  4. NM_001312874.1NP_001299803.1  cytochrome c oxidase assembly protein COX20, mitochondrial isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has a shorter 5' UTR and uses an alternate splice site, which results in a frameshift, compared to variant 1. The encoded isoform (4) has a shorter, distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK000866, AK130498, DA157561, EL947693
    UniProtKB/TrEMBL
    B3KM21
    Related
    ENST00000498262.1
    Conserved Domains (1) summary
    pfam12597
    Location:1447
    DUF3767; Protein of unknown function (DUF3767)
  5. NM_198076.6NP_932342.1  cytochrome c oxidase assembly protein COX20, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_932342.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1. Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AK000866, AK125259, EL947693
    Consensus CDS
    CCDS31080.1
    UniProtKB/Swiss-Prot
    Q5RI15
    UniProtKB/TrEMBL
    B3KM21
    Related
    ENSP00000406327.2, ENST00000411948.7
    Conserved Domains (1) summary
    pfam12597
    Location:1498
    DUF3767; Protein of unknown function (DUF3767)

RNA

  1. NR_132419.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has a shorter 5' terminal exon and lacks an internal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AK000866, AK300760, DA157561, EL947693
  2. NR_132420.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has a shorter 5' terminal exon and uses an alternate splice site in the 5' region 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)
    AK000866, DA157561, DB189037, EL947693
  3. NR_132421.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) has a shorter 5' terminal exon, uses alternate splice sites at two exons, and lacks an internal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    BX323046

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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    244835306..244845063
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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