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

Gene ID: 84987, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:28216
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

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See COX14 in Genome Data Viewer
Location:
12q13.12
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (50112236..50120453)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (50075318..50083543)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50506019..50514236)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50479817-50480548 Neighboring gene SWI/SNF related BAF chromatin remodeling complex subunit D1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6347 Neighboring gene glycerol-3-phosphate dehydrogenase 1 Neighboring gene uncharacterized LOC124902931 Neighboring gene ceramide synthase 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6348 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6349 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:50561740-50562501 Neighboring gene LIM domain and actin binding 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:50611987-50613186 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:50615667-50616518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6352 Neighboring gene microRNA 1293

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Mitochondrial Protein Synthesis Adapts to Influx of Nuclear-Encoded Protein. Richter-Dennerlein R, et al. Cell, 2016 Oct 6. PMID 27693358, Free PMC Article
  2. Identification of PCAG1 as a novel prostate cancer-associated gene. Lai Y, et al. Mol Med Rep, 2013 Mar. PMID 23292432
  3. Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. Ostergaard E, et al. J Med Genet, 2015 Mar. PMID 25604084
  4. Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis. Weraarpachai W, et al. Am J Hum Genet, 2012 Jan 13. PMID 22243966, Free PMC Article
  5. APEX Fingerprinting Reveals the Subcellular Localization of Proteins of Interest. Lee SY, et al. Cell Rep, 2016 May 24. PMID 27184847

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. While PCAG1 mRNA was highly expressed in prostate cancer tissues, it was almost absent in all common normal tissues and paired adjacent normal prostate tissues.
    Title: Identification of PCAG1 as a novel prostate cancer-associated gene.
  2. COX14 was undetectable in COA3 subject fibroblasts, and that COA3 was undetectable in fibroblasts from a COX14 subject, demonstrating the interdependence of these two COX assembly factors
    Title: Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Mitochondrial complex 4 deficiency, nuclear type 10
MedGen: C5436692 OMIM: 619053 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 
Process Evidence Code Pubs
involved_in mitochondrial cytochrome c oxidase assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial cytochrome c oxidase assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial cytochrome c oxidase assembly TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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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_001257133.2 → NP_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
    B2R5G6, Q96I36
    Related
    ENSP00000450331.1, ENST00000550654.1
    Conserved Domains (1) summary
    pfam14880
    Location:1 → 57
    COX14; Cytochrome oxidase c assembly

  2. NM_001257134.2 → NP_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
    B2R5G6, Q96I36
    Related
    ENSP00000447776.1, ENST00000548985.1
    Conserved Domains (1) summary
    pfam14880
    Location:1 → 57
    COX14; Cytochrome oxidase c assembly

  3. NM_032901.4 → NP_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
    B2R5G6, Q96I36
    Related
    ENSP00000446524.1, ENST00000550487.6
    Conserved Domains (1) summary
    pfam14880
    Location:1 → 57
    COX14; Cytochrome oxidase c assembly

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047429769.1 → XP_047285725.1  cytochrome c oxidase assembly protein COX14 isoform X1

    UniProtKB/Swiss-Prot
    B2R5G6, Q96I36
    Related
    ENSP00000326052.2, ENST00000317943.6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    50075318..50083543
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054373647.1 → XP_054229622.1  cytochrome c oxidase assembly protein COX14 isoform X1

    UniProtKB/Swiss-Prot
    B2R5G6, Q96I36
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96I36.1 GenPept UniProtKB/Swiss-Prot:Q96I36

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