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    COA1 cytochrome c oxidase assembly factor 1 [ Homo sapiens (human) ]

    Gene ID: 55744, updated on 27-Nov-2024

    Summary

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    Official Symbol
    COA1provided by HGNC
    Official Full Name
    cytochrome c oxidase assembly factor 1provided by HGNC
    Primary source
    HGNC:HGNC:21868
    See related
    Ensembl:ENSG00000106603 MIM:614769; AllianceGenome:HGNC:21868
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C7orf44; MITRAC15
    Summary
    Involved in mitochondrial cytochrome c oxidase assembly and mitochondrial respiratory chain complex I assembly. Located in cytosol and mitochondrial inner membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 6.8), appendix (RPKM 4.6) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See COA1 in Genome Data Viewer
    Location:
    7p13
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (43608457..43729523, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (43766512..43887637, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (43648056..43769122, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 Neighboring gene uncharacterized LOC102724903 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:43343825-43344325 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98938 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:43416277-43416776 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:43507100-43507600 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:43593671-43594870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18123 Neighboring gene lncRNA upregulator of antiviral response interferon signaling Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:43616728-43617927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25911 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99082 Neighboring gene Sharpr-MPRA regulatory region 11578 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:43688133-43688994 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:43686409-43687270 Neighboring gene Sharpr-MPRA regulatory region 11574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25913 Neighboring gene serine/threonine kinase 17a Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:43691438-43692181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18125 Neighboring gene NFE2L2 motif-containing MPRA enhancer 272 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:43768408-43769137 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:43769138-43769866 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:43789665-43790184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:43789145-43789664 Neighboring gene uncharacterized LOC107986727 Neighboring gene CRISPRi-validated cis-regulatory element chr7.1855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25918 Neighboring gene Sharpr-MPRA regulatory region 4653 Neighboring gene biliverdin reductase A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18128 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99190 Neighboring gene URGCP-MRPS24 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18129 Neighboring gene mitochondrial ribosomal protein S24

    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. Association of COA1 with Patellar Tendonitis: A Genome-wide Association Analysis. Kim SK, et al. Med Sci Sports Exerc, 2021 Nov 1. PMID 34081057
    2. MITRAC15/COA1 promotes mitochondrial translation in a ND2 ribosome-nascent chain complex. Wang C, et al. EMBO Rep, 2020 Jan 7. PMID 31721420, Free PMC Article
    3. Restoration of miR-127-3p and miR-376a-3p counteracts the neoplastic phenotype of giant cell tumor of bone derived stromal cells by targeting COA1, GLE1 and PDIA6. Fellenberg J, et al. Cancer Lett, 2016 Feb 1. PMID 26655997
    4. Dissecting the Roles of Mitochondrial Complex I Intermediate Assembly Complex Factors in the Biogenesis of Complex I. Formosa LE, et al. Cell Rep, 2020 Apr 21. PMID 32320651
    5. MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation. Mick DU, et al. Cell, 2012 Dec 21. PMID 23260140

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of COA1 with Patellar Tendonitis: A Genome-wide Association Analysis.
      Title: Association of COA1 with Patellar Tendonitis: A Genome-wide Association Analysis.
    2. MITRAC15/COA1 promotes mitochondrial translation in a ND2 ribosome-nascent chain complex.
      Title: MITRAC15/COA1 promotes mitochondrial translation in a ND2 ribosome-nascent chain complex.
    3. Restoration of miR-127-3p and miR-376a-3p counteracts the neoplastic phenotype of giant cell tumor of bone derived stromal cells by targeting COA1, GLE1 and PDIA6.
      Title: Restoration of miR-127-3p and miR-376a-3p counteracts the neoplastic phenotype of giant cell tumor of bone derived stromal cells by targeting COA1, GLE1 and PDIA6.
    4. Encodes a mitochondrial protein
      Title: Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.
    5. Human ortholog of fungal COA1 (Cytochrome Oxidase Assembly 1)
      Title: Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.
    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

    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

    • FLJ10803

    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 respiratory chain complex I assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial respiratory chain complex I assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    cytochrome c oxidase assembly factor 1 homolog
    Names
    cytochrome c oxidase assembly protein 1 homolog
    mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 15 kDa

    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.

    mRNA and Protein(s)

    1. NM_001321197.2 → NP_001308126.1  cytochrome c oxidase assembly factor 1 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), as well as variants 1, 4-6, 16-19, and 27-36, encodes isoform a.
      Source sequence(s)
      AC005189, AK021905, BP373150, BP377872
      Consensus CDS
      CCDS5471.1
      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2
      UniProtKB/TrEMBL
      B3KUH1
      Related
      ENSP00000312100.6, ENST00000310564.10
      Conserved Domains (1) summary
      pfam08695
      Location:18 → 134
      Coa1; Cytochrome oxidase complex assembly protein 1

    2. NM_001321198.2 → NP_001308127.1  cytochrome c oxidase assembly factor 1 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variants 1, 3, 5, 6, 16-19, and 27-36, encodes isoform a.
      Source sequence(s)
      AC005189, BG028456, BP377872
      Consensus CDS
      CCDS5471.1
      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2
      UniProtKB/TrEMBL
      B3KUH1
      Related
      ENSP00000413777.1, ENST00000446564.5
      Conserved Domains (1) summary
      pfam08695
      Location:18 → 134
      Coa1; Cytochrome oxidase complex assembly protein 1

    3. NM_001321199.2 → NP_001308128.1  cytochrome c oxidase assembly factor 1 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variants 1, 3, 4, 6, 16-19, and 27-36, encodes isoform a.
      Source sequence(s)
      AC005189, BG334368, BP377872
      Consensus CDS
      CCDS5471.1
      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2
      UniProtKB/TrEMBL
      B3KUH1
      Related
      ENSP00000395586.1, ENST00000438444.5
      Conserved Domains (1) summary
      pfam08695
      Location:18 → 134
      Coa1; Cytochrome oxidase complex assembly protein 1

    4. NM_001321200.2 → NP_001308129.1  cytochrome c oxidase assembly factor 1 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variants 1, 3-5, 16-19, and 27-36, encodes isoform a.
      Source sequence(s)
      AC005189, BG548154, BP377872
      Consensus CDS
      CCDS5471.1
      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2
      UniProtKB/TrEMBL
      B3KUH1
      Conserved Domains (1) summary
      pfam08695
      Location:18 → 134
      Coa1; Cytochrome oxidase complex assembly protein 1

    5. NM_001321201.2 → NP_001308130.1  cytochrome c oxidase assembly factor 1 homolog isoform b

      Status: VALIDATED

      Source sequence(s)
      AC005189, BP377872, BQ231567
      UniProtKB/TrEMBL
      B3KUH1
      Conserved Domains (1) summary
      pfam08695
      Location:6 → 122
      Coa1; Cytochrome oxidase complex assembly protein 1

    6. NM_001321202.2 → NP_001308131.1  cytochrome c oxidase assembly factor 1 homolog isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variants 9, 10, and 11, all encode the same isoform (c).
      Source sequence(s)
      AC005189, AK309315, BP377872
      Consensus CDS
      CCDS83177.1
      UniProtKB/TrEMBL
      F2Z2J3
      Related
      ENSP00000410365.1, ENST00000418140.5

    7. NM_001321203.2 → NP_001308132.1  cytochrome c oxidase assembly factor 1 homolog isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9), as well as variants 8, 10, and 11, all encode the same isoform (c).
      Source sequence(s)
      AC005189, BP377872, DA107764
      Consensus CDS
      CCDS83177.1
      UniProtKB/TrEMBL
      F2Z2J3
      Related
      ENSP00000387433.1, ENST00000457939.1

    8. NM_001321204.2 → NP_001308133.1  cytochrome c oxidase assembly factor 1 homolog isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variants 8, 9, and 11, all encode the same isoform (c).
      Source sequence(s)
      AC005189, BP377872, DA099188
      Consensus CDS
      CCDS83177.1
      UniProtKB/TrEMBL
      F2Z2J3

    9. NM_001321205.2 → NP_001308134.1  cytochrome c oxidase assembly factor 1 homolog isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11), as well as variants 8, 9, and 10, all encode the same isoform (c).
      Source sequence(s)
      AC005189, BP377872, DB003365
      Consensus CDS
      CCDS83177.1
      UniProtKB/TrEMBL
      F2Z2J3

    10. NM_001350924.2 → NP_001337853.1  cytochrome c oxidase assembly factor 1 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (16), as well as variants 1, 4-6, 17-19, and 27-36, encodes isoform a.
      Source sequence(s)
      AC005189
      Consensus CDS
      CCDS5471.1
      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2
      UniProtKB/TrEMBL
      B3KUH1
      Conserved Domains (1) summary
      pfam08695
      Location:18 → 134
      Coa1; Cytochrome oxidase complex assembly protein 1

    11. NM_001350925.2 → NP_001337854.1  cytochrome c oxidase assembly factor 1 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (17), as well as variants 1, 4-6, 16, 18, 19, and 27-36, encodes isoform a.
      Source sequence(s)
      AC005189
      Consensus CDS
      CCDS5471.1
      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2
      UniProtKB/TrEMBL
      B3KUH1
      Conserved Domains (1) summary
      pfam08695
      Location:18 → 134
      Coa1; Cytochrome oxidase complex assembly protein 1

    12. NM_001350926.2 → NP_001337855.1  cytochrome c oxidase assembly factor 1 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (18), as well as variants 1, 4-6, 16, 17, 19, and 27-36, encodes isoform a.
      Source sequence(s)
      AC005189
      Consensus CDS
      CCDS5471.1
      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2
      UniProtKB/TrEMBL
      B3KUH1
      Conserved Domains (1) summary
      pfam08695
      Location:18 → 134
      Coa1; Cytochrome oxidase complex assembly protein 1

    13. NM_001350927.2 → NP_001337856.1  cytochrome c oxidase assembly factor 1 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (19), as well as variants 1, 4-6, 16-18, and 27-36, encodes isoform a.
      Source sequence(s)
      AC005189
      Consensus CDS
      CCDS5471.1
      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2
      UniProtKB/TrEMBL
      B3KUH1
      Conserved Domains (1) summary
      pfam08695
      Location:18 → 134
      Coa1; Cytochrome oxidase complex assembly protein 1

    14. NM_001350928.2 → NP_001337857.1  cytochrome c oxidase assembly factor 1 homolog isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (20), as well as variant 37, encodes isoform d.
      Source sequence(s)
      AC005189
      Conserved Domains (1) summary
      pfam08695
      Location:40 → 128
      Coa1; Cytochrome oxidase complex assembly protein 1

    15. NM_001371307.1 → NP_001358236.1  cytochrome c oxidase assembly factor 1 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (27), as well as variants 1, 3-6, 16-19, and 28-36, encodes isoform a.
      Source sequence(s)
      AC005189
      Consensus CDS
      CCDS5471.1
      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2
      UniProtKB/TrEMBL
      B3KUH1
      Conserved Domains (1) summary
      pfam08695
      Location:18 → 134
      Coa1; Cytochrome oxidase complex assembly protein 1

    16. NM_001371308.1 → NP_001358237.1  cytochrome c oxidase assembly factor 1 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (28), as well as variants 1, 3-6, 16-19, 27, and 29-36, encodes isoform a.
      Source sequence(s)
      AC005189
      Consensus CDS
      CCDS5471.1
      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2
      UniProtKB/TrEMBL
      B3KUH1
      Conserved Domains (1) summary
      pfam08695
      Location:18 → 134
      Coa1; Cytochrome oxidase complex assembly protein 1

    17. NM_001371309.1 → NP_001358238.1  cytochrome c oxidase assembly factor 1 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (29), as well as variants 1, 3-6, 16-19, and 27, 28, and 30-36, encodes isoform a.
      Source sequence(s)
      AC005189
      Consensus CDS
      CCDS5471.1
      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2
      UniProtKB/TrEMBL
      B3KUH1
      Conserved Domains (1) summary
      pfam08695
      Location:18 → 134
      Coa1; Cytochrome oxidase complex assembly protein 1

    18. NM_001371310.1 → NP_001358239.1  cytochrome c oxidase assembly factor 1 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (30), as well as variants 1, 3-6, 16-19, 27-29, and 31-36, encodes isoform a.
      Source sequence(s)
      AC005189
      Consensus CDS
      CCDS5471.1
      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2
      UniProtKB/TrEMBL
      B3KUH1
      Conserved Domains (1) summary
      pfam08695
      Location:18 → 134
      Coa1; Cytochrome oxidase complex assembly protein 1

    19. NM_001371311.1 → NP_001358240.1  cytochrome c oxidase assembly factor 1 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (31), as well as variants 1, 3-6, 16-19, 27-30, and 32-36, encodes isoform a.
      Source sequence(s)
      AC005189
      Consensus CDS
      CCDS5471.1
      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2
      UniProtKB/TrEMBL
      B3KUH1
      Conserved Domains (1) summary
      pfam08695
      Location:18 → 134
      Coa1; Cytochrome oxidase complex assembly protein 1

    20. NM_001371312.1 → NP_001358241.1  cytochrome c oxidase assembly factor 1 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (32), as well as variants 1, 3-6, 16-19, 27-31, and 33-36, encodes isoform a.
      Source sequence(s)
      AC005189
      Consensus CDS
      CCDS5471.1
      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2
      UniProtKB/TrEMBL
      B3KUH1
      Conserved Domains (1) summary
      pfam08695
      Location:18 → 134
      Coa1; Cytochrome oxidase complex assembly protein 1

    21. NM_001371313.1 → NP_001358242.1  cytochrome c oxidase assembly factor 1 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (33), as well as variants 1, 3-6, 16-19, 27-32, and 34-36, encodes isoform a.
      Source sequence(s)
      AC005189
      Consensus CDS
      CCDS5471.1
      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2
      UniProtKB/TrEMBL
      B3KUH1
      Conserved Domains (1) summary
      pfam08695
      Location:18 → 134
      Coa1; Cytochrome oxidase complex assembly protein 1

    22. NM_001371314.1 → NP_001358243.1  cytochrome c oxidase assembly factor 1 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (34), as well as variants 1, 3-6, 16-19, 27-33, 35, and 36, encodes isoform a.
      Source sequence(s)
      AC005189
      Consensus CDS
      CCDS5471.1
      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2
      UniProtKB/TrEMBL
      B3KUH1
      Conserved Domains (1) summary
      pfam08695
      Location:18 → 134
      Coa1; Cytochrome oxidase complex assembly protein 1

    23. NM_001371315.1 → NP_001358244.1  cytochrome c oxidase assembly factor 1 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (35), as well as variants 1, 3-6, 16-19, 27-34, and 36, encodes isoform a.
      Source sequence(s)
      AC005189
      Consensus CDS
      CCDS5471.1
      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2
      UniProtKB/TrEMBL
      B3KUH1
      Conserved Domains (1) summary
      pfam08695
      Location:18 → 134
      Coa1; Cytochrome oxidase complex assembly protein 1

    24. NM_001371316.1 → NP_001358245.1  cytochrome c oxidase assembly factor 1 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (36), as well as variants 1, 3-6, 16-19, and 27-35, encodes isoform a.
      Source sequence(s)
      AC005189
      Consensus CDS
      CCDS5471.1
      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2
      UniProtKB/TrEMBL
      B3KUH1
      Conserved Domains (1) summary
      pfam08695
      Location:18 → 134
      Coa1; Cytochrome oxidase complex assembly protein 1

    25. NM_001371317.1 → NP_001358246.1  cytochrome c oxidase assembly factor 1 homolog isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (37), as well as variant 20, encodes isoform d.
      Source sequence(s)
      AC005189
      Conserved Domains (1) summary
      pfam08695
      Location:40 → 128
      Coa1; Cytochrome oxidase complex assembly protein 1

    26. NM_001371318.1 → NP_001358247.1  cytochrome c oxidase assembly factor 1 homolog isoform e

      Status: VALIDATED

      Source sequence(s)
      AC005189
      Conserved Domains (1) summary
      pfam08695
      Location:42 → 130
      Coa1; Cytochrome oxidase complex assembly protein 1

    27. NM_018224.4 → NP_060694.2  cytochrome c oxidase assembly factor 1 homolog isoform a

      See identical proteins and their annotated locations for NP_060694.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1, 3-6, 16-19, and 27-36 all encode the same isoform (a).
      Source sequence(s)
      AC005189
      Consensus CDS
      CCDS5471.1
      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2
      UniProtKB/TrEMBL
      B3KUH1
      Related
      ENSP00000223336.6, ENST00000223336.11
      Conserved Domains (1) summary
      pfam08695
      Location:18 → 134
      Coa1; Cytochrome oxidase complex assembly protein 1

    RNA

    1. NR_135580.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005189, AC093645, AK023053, BP377872

    2. NR_135581.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005189, AC093645, AK293043, BP377872

    3. NR_135582.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005189, AC093645, BM918741, BP377872

    4. NR_135583.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005189, AC093645, AK001665, DA742258

    5. NR_146940.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005189, AC093645

    6. NR_146941.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005189, AC093645

    7. NR_146942.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005189, AC093645

    8. NR_146943.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005189, AC093645

    9. NR_146944.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005189, AC093645

    10. NR_146945.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005189, AC093645

    11. NR_163914.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon, uses an alternate splice site in a 3' exon, and has an alternate terminal exon. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC005189, AC093645

    12. NR_163915.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005189

    13. NR_163916.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005189, AC093645

    14. NR_163917.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005189, AC093645

    15. NR_163918.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005189, AC093645

    16. NR_163919.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005189

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      43608457..43729523 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420603.1 → XP_047276559.1  cytochrome c oxidase assembly factor 1 homolog isoform X1

      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2

    2. XM_047420605.1 → XP_047276561.1  cytochrome c oxidase assembly factor 1 homolog isoform X1

      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2

    3. XM_047420604.1 → XP_047276560.1  cytochrome c oxidase assembly factor 1 homolog isoform X1

      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2

    RNA

    1. XR_007060085.1 RNA Sequence

    2. XR_007060082.1 RNA Sequence

    3. XR_007060079.1 RNA Sequence

    4. XR_007060084.1 RNA Sequence

    5. XR_007060083.1 RNA Sequence

    6. XR_007060081.1 RNA Sequence

    7. XR_007060078.1 RNA Sequence

    8. XR_007060077.1 RNA Sequence

    9. XR_007060080.1 RNA Sequence

    10. XR_007060086.1 RNA Sequence

    11. XR_007060076.1 RNA Sequence

    12. XR_007060093.1 RNA Sequence

    13. XR_007060105.1 RNA Sequence

    14. XR_007060097.1 RNA Sequence

    15. XR_007060087.1 RNA Sequence

    16. XR_007060102.1 RNA Sequence

    17. XR_007060098.1 RNA Sequence

    18. XR_007060100.1 RNA Sequence

    19. XR_007060096.1 RNA Sequence

    20. XR_007060088.1 RNA Sequence

    21. XR_007060106.1 RNA Sequence

    22. XR_007060089.1 RNA Sequence

    23. XR_007060109.1 RNA Sequence

    24. XR_007060095.1 RNA Sequence

    25. XR_007060112.1 RNA Sequence

    26. XR_007060107.1 RNA Sequence

    27. XR_007060090.1 RNA Sequence

    28. XR_007060111.1 RNA Sequence

    29. XR_007060092.1 RNA Sequence

    30. XR_007060108.1 RNA Sequence

    31. XR_007060103.1 RNA Sequence

    32. XR_007060104.1 RNA Sequence

    33. XR_007060110.1 RNA Sequence

    34. XR_007060114.1 RNA Sequence

    35. XR_007060091.1 RNA Sequence

    36. XR_007060099.1 RNA Sequence

    37. XR_007060101.1 RNA Sequence

    38. XR_007060113.1 RNA Sequence

    39. XR_007060115.1 RNA Sequence

    40. XR_007060094.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      43766512..43887637 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358632.1 → XP_054214607.1  cytochrome c oxidase assembly factor 1 homolog isoform X1

      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2

    2. XM_054358634.1 → XP_054214609.1  cytochrome c oxidase assembly factor 1 homolog isoform X1

      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2

    3. XM_054358633.1 → XP_054214608.1  cytochrome c oxidase assembly factor 1 homolog isoform X1

      UniProtKB/Swiss-Prot
      A6NJU8, A8KAH8, Q9GZY4, Q9HAB7, Q9NVD2

    RNA

    1. XR_008487674.1 RNA Sequence

    2. XR_008487671.1 RNA Sequence

    3. XR_008487668.1 RNA Sequence

    4. XR_008487673.1 RNA Sequence

    5. XR_008487672.1 RNA Sequence

    6. XR_008487670.1 RNA Sequence

    7. XR_008487666.1 RNA Sequence

    8. XR_008487665.1 RNA Sequence

    9. XR_008487669.1 RNA Sequence

    10. XR_008487675.1 RNA Sequence

    11. XR_008487664.1 RNA Sequence

    12. XR_008487682.1 RNA Sequence

    13. XR_008487694.1 RNA Sequence

    14. XR_008487685.1 RNA Sequence

    15. XR_008487676.1 RNA Sequence

    16. XR_008487691.1 RNA Sequence

    17. XR_008487687.1 RNA Sequence

    18. XR_008487689.1 RNA Sequence

    19. XR_008487686.1 RNA Sequence

    20. XR_008487677.1 RNA Sequence

    21. XR_008487695.1 RNA Sequence

    22. XR_008487678.1 RNA Sequence

    23. XR_008487698.1 RNA Sequence

    24. XR_008487684.1 RNA Sequence

    25. XR_008487701.1 RNA Sequence

    26. XR_008487696.1 RNA Sequence

    27. XR_008487679.1 RNA Sequence

    28. XR_008487700.1 RNA Sequence

    29. XR_008487681.1 RNA Sequence

    30. XR_008487697.1 RNA Sequence

    31. XR_008487692.1 RNA Sequence

    32. XR_008487693.1 RNA Sequence

    33. XR_008487699.1 RNA Sequence

    34. XR_008487680.1 RNA Sequence

    35. XR_008487688.1 RNA Sequence

    36. XR_008487690.1 RNA Sequence

    37. XR_008487702.1 RNA Sequence

    38. XR_008487703.1 RNA Sequence

    39. XR_008487683.1 RNA Sequence

    40. XR_008487667.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9GZY4.1 GenPept UniProtKB/Swiss-Prot:Q9GZY4

    Gene LinkOut

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

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