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

Gene ID: 54927, updated on 5-Jul-2020

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
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

Genomic context

See CHCHD3 in Genome Data Viewer
Location:
7q32.3-q33
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (132784862..133082158, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (132469623..132766839, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized FLJ40288 Neighboring gene uncharacterized LOC100506937 Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene Neighboring gene microRNA 3654 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

Homology

Clone Names

  • FLJ20420

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
molecular adaptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatase binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cristae formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
inner mitochondrial membrane organization IC
Inferred by Curator
more info
PubMed 
inner mitochondrial membrane organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial fusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
MICOS complex HDA PubMed 
MICOS complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial sorting and assembly machinery complex HDA PubMed 
mitochondrion HDA PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus IDA
Inferred from Direct Assay
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)

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_001317177.1NP_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/Swiss-Prot
    Q9NX63
    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_001317178.1NP_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_133671.1 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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    132784862..133082158 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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