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    CHCHD1 coiled-coil-helix-coiled-coil-helix domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 118487, updated on 5-Mar-2024

    Summary

    Official Symbol
    CHCHD1provided by HGNC
    Official Full Name
    coiled-coil-helix-coiled-coil-helix domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:23518
    See related
    Ensembl:ENSG00000172586 MIM:608842; AllianceGenome:HGNC:23518
    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
    mS37; C2360; MRP-S37; C10orf34
    Summary
    Enables RNA binding activity. Predicted to be involved in mitochondrial translation. Located in cytosol; mitochondrion; and nuclear lumen. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal (RPKM 18.9), colon (RPKM 18.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    10q22.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (73782048..73783652)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (74653448..74655052)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (75541806..75543410)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2487 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:75532921-75533451 Neighboring gene fucosyltransferase 11 Neighboring gene uncharacterized LOC107984243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3575 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:75543706-75543880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2488 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:75548316-75549515 Neighboring gene zinc finger SWIM-type containing 8 Neighboring gene NDST2-ZSWIM8-AS1 readthrough Neighboring gene ZSWIM8 antisense RNA 1 Neighboring gene N-deacetylase and N-sulfotransferase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2490

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev HIV-1 Rev is identified to have a physical interaction with coiled-coil-helix-coiled-coil-helix domain containing 1 (CHCHD1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ25854

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial translation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    part_of mitochondrial small ribosomal subunit NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    small ribosomal subunit protein mS37
    Names
    28S ribosomal protein S37, mitochondrial
    coiled-coil-helix-coiled-coil-helix domain-containing protein 1
    mitochondrial small ribosomal subunit protein mS37
    nuclear protein C2360

    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_203298.3NP_976043.1  small ribosomal subunit protein mS37

      See identical proteins and their annotated locations for NP_976043.1

      Status: VALIDATED

      Source sequence(s)
      AC022400, BC020852, BM787401
      Consensus CDS
      CCDS7334.1
      UniProtKB/Swiss-Prot
      Q96BP2
      Related
      ENSP00000361923.5, ENST00000372833.6
      Conserved Domains (1) summary
      pfam06747
      Location:4579
      CHCH; CHCH domain

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      73782048..73783652
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      74653448..74655052
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)