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

Gene ID: 152100, updated on 25-Jan-2022

Summary

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
C3orf68
Summary
Predicted to enable metal ion binding activity. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2021]
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

See CMC1 in Genome Data Viewer
Location:
3p24.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (28241593..28325142)
105.20201022 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 uncharacterized LOC105377008 Neighboring gene Sharpr-MPRA regulatory region 24 Neighboring gene 5-azacytidine induced 2 Neighboring gene zinc finger CW-type and PWWP domain containing 2 Neighboring gene CIAO2A pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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
cmc1p
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_001331185.2NP_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:63131
    Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like
  2. NM_001331186.2NP_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_001331187.2NP_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_001331189.2NP_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:165
    Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like
  5. NM_001331190.2NP_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:757
    Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like
  6. NM_182523.2NP_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
    Q7Z7K0
    Related
    ENSP00000418348.1, ENST00000466830.6
    Conserved Domains (1) summary
    pfam08583
    Location:1987
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    28241593..28325142
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453372.1XP_024309140.1  COX assembly mitochondrial protein homolog isoform X8

    Related
    ENST00000418849.2
    Conserved Domains (1) summary
    pfam08583
    Location:4897
    Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like
  2. XM_024453365.1XP_024309133.1  COX assembly mitochondrial protein homolog isoform X1

    Conserved Domains (1) summary
    pfam08583
    Location:63163
    Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like
  3. XM_024453366.1XP_024309134.1  COX assembly mitochondrial protein homolog isoform X2

    Conserved Domains (1) summary
    pfam08583
    Location:63162
    Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like
  4. XM_024453370.1XP_024309138.1  COX assembly mitochondrial protein homolog isoform X7

    Conserved Domains (1) summary
    pfam08583
    Location:52101
    Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like
  5. XM_017005760.1XP_016861249.1  COX assembly mitochondrial protein homolog isoform X5

  6. XM_024453371.1XP_024309139.1  COX assembly mitochondrial protein homolog isoform X8

    Conserved Domains (1) summary
    pfam08583
    Location:4897
    Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like
  7. XM_024453367.1XP_024309135.1  COX assembly mitochondrial protein homolog isoform X3

    Conserved Domains (1) summary
    pfam08583
    Location:91140
    Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like
  8. XM_024453369.1XP_024309137.1  COX assembly mitochondrial protein homolog isoform X6

    Conserved Domains (1) summary
    pfam08583
    Location:58108
    Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like
  9. XM_024453368.1XP_024309136.1  COX assembly mitochondrial protein homolog isoform X4

    Conserved Domains (1) summary
    pfam08583
    Location:86139
    Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like

RNA

  1. XR_002959496.1 RNA Sequence

  2. XR_002959498.1 RNA Sequence

  3. XR_002959495.1 RNA Sequence

  4. XR_002959497.1 RNA Sequence

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