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CHCHD5 coiled-coil-helix-coiled-coil-helix domain containing 5 [ Homo sapiens (human) ]

Gene ID: 84269, updated on 5-Mar-2024

Summary

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Official Symbol
CHCHD5provided by HGNC
Official Full Name
coiled-coil-helix-coiled-coil-helix domain containing 5provided by HGNC
Primary source
HGNC:HGNC:17840
See related
Ensembl:ENSG00000125611 MIM:616978; AllianceGenome:HGNC:17840
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
CHTM1; MIC14; MIX14; C2orf9
Summary
Predicted to be located in mitochondrial intermembrane space. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 3.7), kidney (RPKM 2.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
2q14.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (112584447..112589040)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (113011075..113015668)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (113342024..113346617)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene tubulin tyrosine ligase Neighboring gene uncharacterized LOC105373562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16393 Neighboring gene RNA polymerase I subunit B Neighboring gene uncharacterized LOC124907870 Neighboring gene MPRA-validated peak3820 silencer Neighboring gene Sharpr-MPRA regulatory region 15338 Neighboring gene uncharacterized LOC101927330 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:113341395-113342594 Neighboring gene uncharacterized LOC124907869 Neighboring gene ribosomal protein S20 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. CHTM1, a novel metabolic marker deregulated in human malignancies. Babbar M, et al. Oncogene, 2018 Apr. PMID 29371680, Free PMC Article
  2. A new risk locus in CHCHD5 for hypertension and obesity in a Chinese child population: a cohort study. Wu L, et al. BMJ Open, 2017 Sep 11. PMID 28893745, Free PMC Article
  3. CHTM1 regulates cancer cell sensitivity to metabolic stress via p38-AIF1 pathway. Babbar M, et al. J Exp Clin Cancer Res, 2019 Jun 20. PMID 31221176, Free PMC Article
  4. Structural characterization of CHCHD5 and CHCHD7: two atypical human twin CX9C proteins. Banci L, et al. J Struct Biol, 2012 Oct. PMID 22842048
  5. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Study reports a novel function of CHTM1 via which CHTM1 alters lung cancer cell survival under metabolic-stress. For example, CHTM1 interacts with AIF1 and affects stress-induced cytosol/nuclear translocation of AIF1 as well as cell death. CHTM1 appears to mediate these effects by negatively regulating the p38 kinase. Also, CHTM1 is overexpressed in lung cancer patients.
    Title: CHTM1 regulates cancer cell sensitivity to metabolic stress via p38-AIF1 pathway.
  2. CHTM1 is a novel metabolic marker that is important for the growth of tumorigenic cells under limiting nutrient supplies and thus, links cellular metabolism and tumorigenesis.
    Title: CHTM1, a novel metabolic marker deregulated in human malignancies.
  3. There was a statistically significant association between rs3748024 and systolic blood pressure (SBP) under an additive model adjusted for age, gender and body mass index (BMI) after correction for multiple testing. The SNP was also significantly associated with BMI, obesity, and triglycerides.
    Title: A new risk locus in CHCHD5 for hypertension and obesity in a Chinese child population: a cohort study.
  4. 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.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ39671, MGC11104

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 biological_process ND
No biological Data available
more info
  
involved_in cellular respiration IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in mitochondrial intermembrane space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
coiled-coil-helix-coiled-coil-helix domain-containing protein 5
Names
mitochondrial intermembrane space cysteine motif protein of 14 kDa 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_001304353.2 → NP_001291282.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 5 isoform b

    See identical proteins and their annotated locations for NP_001291282.1

    Status: VALIDATED

    Source sequence(s)
    AC012442
    Conserved Domains (1) summary
    pfam06747
    Location:20 → 54
    CHCH; CHCH domain

  2. NM_001304354.2 → NP_001291283.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 5 isoform b

    See identical proteins and their annotated locations for NP_001291283.1

    Status: VALIDATED

    Source sequence(s)
    AC012442, BM563093
    Related
    ENST00000469030.1
    Conserved Domains (1) summary
    pfam06747
    Location:20 → 54
    CHCH; CHCH domain

  3. NM_001371322.1 → NP_001358251.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 5 isoform b

    Status: VALIDATED

    Source sequence(s)
    AC012442
    Conserved Domains (1) summary
    pfam06747
    Location:20 → 54
    CHCH; CHCH domain

  4. NM_001371323.1 → NP_001358252.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 5 isoform b

    Status: VALIDATED

    Source sequence(s)
    AC012442
    Conserved Domains (1) summary
    pfam06747
    Location:20 → 54
    CHCH; CHCH domain

  5. NM_032309.4 → NP_115685.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 5 isoform a

    See identical proteins and their annotated locations for NP_115685.1

    Status: VALIDATED

    Source sequence(s)
    AC012442, BC004498, HY011716
    Consensus CDS
    CCDS2098.1
    UniProtKB/Swiss-Prot
    Q585T4, Q8N8C4, Q9BSY4
    UniProtKB/TrEMBL
    A0A2U9EWT9, B2R5K5
    Related
    ENSP00000325655.5, ENST00000324913.10
    Conserved Domains (2) summary
    pfam06747
    Location:58 → 92
    CHCH; CHCH domain
    pfam16860
    Location:7 → 49
    CX9C; CHCH-CHCH-like Cx9C, IMS import disulfide relay-system,

RNA

  1. NR_163920.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC012442

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    112584447..112589040
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263824.5 → XP_005263881.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 5 isoform X1

    See identical proteins and their annotated locations for XP_005263881.1

    UniProtKB/Swiss-Prot
    Q9BSY4
    Related
    ENSP00000386994.1, ENST00000409719.1
    Conserved Domains (2) summary
    pfam06747
    Location:58 → 92
    CHCH; CHCH domain
    pfam16860
    Location:8 → 49
    CX9C; CHCH-CHCH-like Cx9C, IMS import disulfide relay-system,

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    113011075..113015668
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344175.1 → XP_054200150.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 5 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BSY4.1 GenPept UniProtKB/Swiss-Prot:Q9BSY4

Gene LinkOut

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