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    CHCHD3 coiled-coil-helix-coiled-coil-helix domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 54927, updated on 9-Dec-2024

    Summary

    Official Symbol
    CHCHD3provided by HGNC
    Official Full Name
    coiled-coil-helix-coiled-coil-helix domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:21906
    See related
    Ensembl:ENSG00000106554 MIM:613748; AllianceGenome:HGNC:21906
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Mic19; MINOS3; MICOS19; PPP1R22
    Summary
    The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
    Expression
    Ubiquitous expression in heart (RPKM 24.9), duodenum (RPKM 14.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CHCHD3 in Genome Data Viewer
    Location:
    7q32.3-q33
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (132784870..133082090, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (134106386..134403617, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (132469631..132766850, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORD46 Neighboring gene uncharacterized LOC100506937 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:132443779-132444332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:132455865-132456366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:132456367-132456866 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:132558086-132558347 Neighboring gene Sharpr-MPRA regulatory region 15449 Neighboring gene Sharpr-MPRA regulatory region 5703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26681 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:132728273-132728435 Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene Neighboring gene microRNA 3654 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:132766583-132767217 Neighboring gene uncharacterized LOC105375512 Neighboring gene RNA, U6 small nuclear 92, pseudogene

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20420

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cristae formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cristae formation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in inner mitochondrial membrane organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in inner mitochondrial membrane organization IC
    Inferred by Curator
    more info
    PubMed 
    involved_in inner mitochondrial membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial fusion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    MICOS complex subunit MIC19
    Names
    coiled-coil-helix-coiled-coil-helix domain-containing protein 3, mitochondrial
    mitochondrial contact site and cristae organizing system subunit 19
    mitochondrial inner membrane organizing system 3
    protein phosphatase 1, regulatory subunit 22

    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_001317177.2NP_001304106.1  MICOS complex subunit MIC19 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK000427, AL516679, DC385940
      Consensus CDS
      CCDS87549.1
      UniProtKB/TrEMBL
      C9JRZ6
      Related
      ENSP00000389297.2, ENST00000448878.6
      Conserved Domains (2) summary
      pfam05300
      Location:15180
      DUF737; Protein of unknown function (DUF737)
      pfam06747
      Location:188220
      CHCH; CHCH domain
    2. NM_001317178.2NP_001304107.1  MICOS complex subunit MIC19 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus and lacks an internal segment compared to isoform 1.
      Source sequence(s)
      AC008038, AK294071, DC385940
      UniProtKB/TrEMBL
      B7Z1X9
      Conserved Domains (1) summary
      pfam05300
      Location:15125
      DUF737; Protein of unknown function (DUF737)
    3. NM_017812.4NP_060282.1  MICOS complex subunit MIC19 isoform 2

      See identical proteins and their annotated locations for NP_060282.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      BC014839, DC385940
      Consensus CDS
      CCDS5828.1
      UniProtKB/Swiss-Prot
      Q9NX63
      UniProtKB/TrEMBL
      A4D1N4
      Related
      ENSP00000262570.5, ENST00000262570.10
      Conserved Domains (1) summary
      pfam05300
      Location:15175
      DUF737; Protein of unknown function (DUF737)

    RNA

    1. NR_133671.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon but contains three additional alternate exons compared to variant 1. 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)
      AK000427, AK310236, DC385940

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      132784870..133082090 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420549.1XP_047276505.1  MICOS complex subunit MIC19 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      134106386..134403617 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358537.1XP_054214512.1  MICOS complex subunit MIC19 isoform X1