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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

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001304353.2NP_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:2054
      CHCH; CHCH domain
    2. NM_001304354.2NP_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:2054
      CHCH; CHCH domain
    3. NM_001371322.1NP_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:2054
      CHCH; CHCH domain
    4. NM_001371323.1NP_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:2054
      CHCH; CHCH domain
    5. NM_032309.4NP_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:5892
      CHCH; CHCH domain
      pfam16860
      Location:749
      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_005263824.5XP_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:5892
      CHCH; CHCH domain
      pfam16860
      Location:849
      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_054344175.1XP_054200150.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 5 isoform X1