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    CMC1 C-X9-C motif containing 1 [ Homo sapiens (human) ]

    Gene ID: 152100, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CMC1provided by HGNC
    Official Full Name
    C-X9-C motif containing 1provided by HGNC
    Primary source
    HGNC:HGNC:28783
    See related
    Ensembl:ENSG00000187118 MIM:615166; AllianceGenome:HGNC:28783
    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
    cmc1p; C3orf68
    Summary
    Predicted to enable metal ion binding activity. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in fat (RPKM 5.4), kidney (RPKM 3.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CMC1 in Genome Data Viewer
    Location:
    3p24.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (28241619..28325142)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (28243678..28327207)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (28283110..28366633)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1967 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:28100418-28101018 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:28101019-28101619 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14154 Neighboring gene uncharacterized LOC105377008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19620 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:28240525-28241724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19621 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:28390429-28391409 Neighboring gene 5-azacytidine induced 2 Neighboring gene zinc finger CW-type and PWWP domain containing 2 Neighboring gene CIAO2A pseudogene 1 Neighboring gene ribosomal protein L34 pseudogene 11

    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. A CMC1-knockout reveals translation-independent control of human mitochondrial complex IV biogenesis. Bourens M, et al. EMBO Rep, 2017 Mar. PMID 28082314, Free PMC Article
    2. Cmc1p is a conserved mitochondrial twin CX9C protein involved in cytochrome c oxidase biogenesis. Horn D, et al. Mol Cell Biol, 2008 Jul. PMID 18443040, Free PMC Article
    3. Protein import and oxidative folding in the mitochondrial intermembrane space of intact mammalian cells. Fischer M, et al. Mol Biol Cell, 2013 Jul. PMID 23676665, Free PMC Article
    4. Unbiased Profiling of the Human Proinsulin Biosynthetic Interaction Network Reveals a Role for Peroxiredoxin 4 in Proinsulin Folding. Tran DT, et al. Diabetes, 2020 Aug. PMID 32457219, Free PMC Article
    5. Global Interactome Mapping of Mitochondrial Intermembrane Space Proteases Identifies a Novel Function for HTRA2. Botham A, et al. Proteomics, 2019 Dec. PMID 31617661

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. our data indicate that CMC1 regulates turnover of newly synthesized COX1 prior to and during COX1 maturation, without affecting the rate of COX1 synthesis.
      Title: A CMC1-knockout reveals translation-independent control of human mitochondrial complex IV biogenesis.
    2. 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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    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

    • MGC61571, DKFZp779D0833

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    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
    COX assembly mitochondrial protein homolog
    Names
    C-x(9)-C motif containing 1
    COX assembly mitochondrial protein 1 homolog
    CX9C mitochondrial protein required for full expression of COX 1
    mitochondrial metallochaperone-like protein

    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_001331185.2 → NP_001318114.1  COX assembly mitochondrial protein homolog isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC092503, AC098616
      Conserved Domains (1) summary
      pfam08583
      Location:63 → 131
      Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like

    2. NM_001331186.2 → NP_001318115.1  COX assembly mitochondrial protein homolog isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate exons and contains another alternate exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC092503, AC098616

    3. NM_001331187.2 → NP_001318116.1  COX assembly mitochondrial protein homolog isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and lacks two alternate exons compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC092503, AC098616

    4. NM_001331189.2 → NP_001318118.1  COX assembly mitochondrial protein homolog isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an alternate exon compared to variant 1. The resulting isoform (5) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC092503, AC098616
      Conserved Domains (1) summary
      pfam08583
      Location:1 → 65
      Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like

    5. NM_001331190.2 → NP_001318119.1  COX assembly mitochondrial protein homolog isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks three alternate exons compared to variant 1. The resulting isoform (6) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC092503, AC098616
      Consensus CDS
      CCDS87055.1
      UniProtKB/TrEMBL
      C9JES7
      Related
      ENSP00000404581.1, ENST00000423894.5
      Conserved Domains (1) summary
      pfam08583
      Location:7 → 57
      Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like

    6. NM_001412155.1 → NP_001399084.1  COX assembly mitochondrial protein homolog isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) uses the same exon combination as variant 1 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (5) has a shorter N-terminus due to translation initiation at a downstream start codon, compared to isoform 1.
      Source sequence(s)
      CP068275

    7. NM_182523.2 → NP_872329.1  COX assembly mitochondrial protein homolog isoform 4

      See identical proteins and their annotated locations for NP_872329.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC092503, AC098616, BC052644
      Consensus CDS
      CCDS33722.1
      UniProtKB/Swiss-Prot
      Q68DJ7, Q7Z7K0
      Related
      ENSP00000418348.1, ENST00000466830.6
      Conserved Domains (1) summary
      pfam08583
      Location:19 → 87
      Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like

    RNA

    1. NR_138585.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) lacks three alternate exons and contains another alternate 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)
      AC092503, AC098616

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      28241619..28325142
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      28243678..28327207
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z7K0.1 GenPept UniProtKB/Swiss-Prot:Q7Z7K0

    Gene LinkOut

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

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