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

    Gene ID: 84269, updated on 27-Nov-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 involved in cellular respiration. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 3.7), kidney (RPKM 2.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CHCHD5 in Genome Data Viewer
    Location:
    2q14.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (112584447..112589040)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (113011075..113015668)
    RS_2024_09 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 (14) 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)

    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 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 HTP PubMed 
    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_2024_08

    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

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

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