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

Gene ID: 152100, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 5.4), kidney (RPKM 3.5) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
3p24.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (28241619..28325142)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (28243678..28327207)
105.20220307 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 (16) 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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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)

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

  • 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
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_2023_10

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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