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

    Gene ID: 84987, updated on 27-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
    mouse all
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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
    • 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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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