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COX14 cytochrome c oxidase assembly factor COX14 [ Homo sapiens (human) ]

Gene ID: 84987, updated on 23-Nov-2021

Summary

Official Symbol
COX14provided by HGNC
Official Full Name
cytochrome c oxidase assembly factor COX14provided by HGNC
Primary source
HGNC:HGNC:28216
See related
Ensembl:ENSG00000178449 MIM:614478
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
PCAG1; MC4DN10; C12orf62
Summary
This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Expression
Ubiquitous expression in fat (RPKM 29.8), heart (RPKM 27.0) and 25 other tissues See more
Orthologs
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Genomic context

See COX14 in Genome Data Viewer
Location:
12q13.12
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (50112236..50120453)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50506019..50514236)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 Neighboring gene glycerol-3-phosphate dehydrogenase 1 Neighboring gene ceramide synthase 5 Neighboring gene LIM domain and actin binding 1 Neighboring gene microRNA 1293

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC14288

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cytochrome c oxidase assembly protein COX14
Names
COX14 cytochrome c oxidase assembly homolog
COX14, cytochrome c oxidase assembly factor
cytochrome c oxidase assembly homolog 14

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.

Genomic

  1. NG_032155.1 RefSeqGene

    Range
    5256..13473
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001257133.2NP_001244062.1  cytochrome c oxidase assembly protein COX14

    See identical proteins and their annotated locations for NP_001244062.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional exon in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    AI208662, DW418935
    Consensus CDS
    CCDS8800.1
    UniProtKB/Swiss-Prot
    Q96I36
    Related
    ENSP00000450331.1, ENST00000550654.1
    Conserved Domains (1) summary
    pfam14880
    Location:157
    COX14; Cytochrome oxidase c assembly
  2. NM_001257134.2NP_001244063.1  cytochrome c oxidase assembly protein COX14

    See identical proteins and their annotated locations for NP_001244063.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an additional segment in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    BC007849, BG829783
    Consensus CDS
    CCDS8800.1
    UniProtKB/Swiss-Prot
    Q96I36
    Related
    ENSP00000447776.1, ENST00000548985.1
    Conserved Domains (1) summary
    pfam14880
    Location:157
    COX14; Cytochrome oxidase c assembly
  3. NM_032901.4NP_116290.1  cytochrome c oxidase assembly protein COX14

    See identical proteins and their annotated locations for NP_116290.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript. Variants 1-3 encode the same protein.
    Source sequence(s)
    AI208662, BC007849
    Consensus CDS
    CCDS8800.1
    UniProtKB/Swiss-Prot
    Q96I36
    Related
    ENSP00000446524.1, ENST00000550487.6
    Conserved Domains (1) summary
    pfam14880
    Location:157
    COX14; Cytochrome oxidase c assembly

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    50112236..50120453
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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