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CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 [ Homo sapiens (human) ]

Gene ID: 79145, updated on 7-Apr-2024

Summary

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Official Symbol
CHCHD7provided by HGNC
Official Full Name
coiled-coil-helix-coiled-coil-helix domain containing 7provided by HGNC
Primary source
HGNC:HGNC:28314
See related
Ensembl:ENSG00000170791 MIM:611238; AllianceGenome:HGNC:28314
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
COX23
Summary
Predicted to be located in mitochondrial intermembrane space. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 12.4), kidney (RPKM 11.5) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
8q12.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (56211789..56218809)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (56588778..56595798)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (57124348..57131368)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:57054775-57055317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19210 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:57079228-57080427 Neighboring gene PLAG1 zinc finger Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27399 Neighboring gene MPRA-validated peak7026 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr8:57124219-57124444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:57126097-57126596 Neighboring gene MPRA-validated peak7027 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr8:57208438-57208939 Neighboring gene short chain dehydrogenase/reductase family 16C member 5 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:57302182-57303381 Neighboring gene short chain dehydrogenase/reductase family 16C member 6, pseudogene

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. Structural characterization of CHCHD5 and CHCHD7: two atypical human twin CX9C proteins. Banci L, et al. J Struct Biol, 2012 Oct. PMID 22842048
  2. Genome-wide analysis of eukaryotic twin CX9C proteins. Cavallaro G. Mol Biosyst, 2010 Dec. PMID 20922212
  3. CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas. Asp J, et al. Genes Chromosomes Cancer, 2006 Sep. PMID 16736500
  4. Identification of ten loci associated with height highlights new biological pathways in human growth. Lettre G, et al. Nat Genet, 2008 May. PMID 18391950, Free PMC Article
  5. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. Sovio U, et al. PLoS Genet, 2009 Mar. PMID 19266077, Free PMC Article

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Molecular interactions guiding the protein recognition between Mia40 and the disulfide-reduced CHCHD5 and CHCHD7.
    Title: Structural characterization of CHCHD5 and CHCHD7: two atypical human twin CX9C proteins.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  3. CHCHD7 is a newly identified member of a ubiquitously expressed multifamily of proteins containing a conserved (coiled coil 1)-(helix 1)-(coiled coil 2)-(helix 2) domain; it has not been previously associated with neoplasia.
    Title: CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas.
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

EBI GWAS Catalog

Description
Identification of ten loci associated with height highlights new biological pathways in human growth.
EBI GWAS Catalog
Many sequence variants affecting diversity of adult human height.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS Catalog

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC2217, FLJ40966

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in mitochondrial respiratory chain complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
located_in mitochondrial intermembrane space IEA
Inferred from Electronic Annotation
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
coiled-coil-helix-coiled-coil-helix domain-containing protein 7
Names
COX23 cytochrome c oxidase assembly homolog

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_001011667.3 → NP_001011667.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform a

    See identical proteins and their annotated locations for NP_001011667.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) uses an alternate splice site in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 2. The encoded isoform (a) is shorter and has a distinct C-terminus compared to isoform b.
    Source sequence(s)
    AC107952, AK095922, AY070434, BX473986
    UniProtKB/TrEMBL
    E5RJ15
    Related
    ENSP00000430498.1, ENST00000523532.5

  2. NM_001011668.3 → NP_001011668.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform b

    See identical proteins and their annotated locations for NP_001011668.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (b).
    Source sequence(s)
    AC107952, AK095922, BC002546, BX473986
    Consensus CDS
    CCDS34895.1
    UniProtKB/TrEMBL
    J3KPV1
    Related
    ENSP00000306425.3, ENST00000303759.3

  3. NM_001011669.3 → NP_001011669.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform c

    See identical proteins and their annotated locations for NP_001011669.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences compared to variant 2. The encoded isoform (c) is shorter and has distinct N- and C-termini compared to isoform b. Both variants 3 and 7 encode the same isoform (c).
    Source sequence(s)
    AC107952, AK095922, AY070434, BX473986
    Consensus CDS
    CCDS55232.1
    UniProtKB/TrEMBL
    E5RJ15
    Related
    ENSP00000428274.1, ENST00000518801.5

  4. NM_001011670.3 → NP_001011670.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform e

    See identical proteins and their annotated locations for NP_001011670.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) has multiple differences compared to variant 2. The encoded isoform (e) is shorter and has a distinct C-terminus compared to isoform b.
    Source sequence(s)
    AC107952, AK095922, AY070434, BX473986
    Consensus CDS
    CCDS55233.1
    UniProtKB/TrEMBL
    E5RJ15
    Related
    ENSP00000429635.1, ENST00000521831.5

  5. NM_001011671.3 → NP_001011671.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform f

    See identical proteins and their annotated locations for NP_001011671.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translation start site compared to variant 2. The encoded isoform (f) has a shorter N-terminus compared to variant 2.
    Source sequence(s)
    AC107952, AK095922, BC002546, BX473986
    Consensus CDS
    CCDS34896.1
    UniProtKB/Swiss-Prot
    A8K223, E9PBH3, J3KNE9, Q7Z588, Q9BUK0
    UniProtKB/TrEMBL
    J3KPV1
    Related
    ENSP00000347469.3, ENST00000355315.8

  6. NM_001317858.2 → NP_001304787.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) has multiple differences compared to variant 2. The encoded isoform (c) is shorter and has distinct N- and C-termini compared to isoform b. Both variants 3 and 7 encode the same isoform (c).
    Source sequence(s)
    AC107952, AK095922, BC002546, BI911444, HY130470
    Consensus CDS
    CCDS55232.1
    UniProtKB/TrEMBL
    E5RJ15
    Related
    ENSP00000430458.1, ENST00000521524.5

  7. NM_001317859.2 → NP_001304788.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12) has multiple differences compared to variant 2. The encoded isoform (g) is shorter and has a distinct C-terminus compared to isoform b.
    Source sequence(s)
    AC107952, AK095922, BC002546, CN256918, HY130470
    Consensus CDS
    CCDS83294.1
    UniProtKB/TrEMBL
    E5RHM5, E5RJ08
    Related
    ENSP00000430882.1, ENST00000523061.5

  8. NM_024300.5 → NP_077276.2  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform d

    See identical proteins and their annotated locations for NP_077276.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' coding region resulting in a frameshift compared to variant 2. The encoded isoform (d) is shorter and has a distinct N-terminus compared to isoform b.
    Source sequence(s)
    AC107952, AK095922, BC002546, BX473986
    Consensus CDS
    CCDS6166.2
    UniProtKB/TrEMBL
    J3KPV1
    Related
    ENSP00000428917.1, ENST00000523975.5

RNA

  1. NR_133934.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) uses an alternate splice site in an internal exon and includes an alternate internal exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC107952, AK095922, BC002546, DA367603, DA431755

  2. NR_133935.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) uses an alternate splice site in an internal exon and includes an alternate internal exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC107952, AK095922, BC002546, DA431755

  3. NR_133936.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10) includes an alternate internal exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC107952, AK095922, BC002546, DA988698

  4. NR_133937.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11) uses an alternate splice site in an internal exon and lacks an alternate internal exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC107952, AK095922, BC002546, BM695222, HY130470

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    56211789..56218809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    56588778..56595798
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BUK0.1 GenPept UniProtKB/Swiss-Prot:Q9BUK0

Gene LinkOut

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

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