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

Gene ID: 54927, updated on 26-May-2016
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 HPRD:13044; MIM:613748; Vega:OTTHUMG00000155231
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; 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]
Orthologs
Location:
7q33
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (132784862..133082079, 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 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 7

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ20420

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatase binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein complex scaffold ISS
Inferred from Sequence or Structural Similarity
more info
 
transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cristae formation IMP
Inferred from Mutant Phenotype
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 from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
MICOS complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
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 
Preferred Names
MICOS complex subunit MIC19
Names
coiled-coil-helix-coiled-coil-helix domain-containing protein 3, mitochondrial
mitochondrial inner membrane organizing system 3
protein phosphatase 1, regulatory subunit 22

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
    UniProtKB/Swiss-Prot
    Q9NX63
    Conserved Domains (2) summary
    pfam06747
    Location:188222
    CHCH; CHCH domain
    pfam05300
    Location:14180
    DUF737; Protein of unknown function (DUF737)
  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
    Conserved Domains (1) summary
    pfam05300
    Location:14125
    DUF737; Protein of unknown function (DUF737)
  3. NM_017812.3NP_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)
    AK000427, BC014839, DC385940
    Consensus CDS
    CCDS5828.1
    UniProtKB/Swiss-Prot
    Q9NX63
    UniProtKB/TrEMBL
    A4D1N4
    Related
    ENSP00000262570, OTTHUMP00000207488, ENST00000262570, OTTHUMT00000338899
    Conserved Domains (2) summary
    pfam06747
    Location:183217
    CHCH; CHCH domain
    pfam05300
    Location:14175
    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 Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    132784862..133082079 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516363.1XP_011514665.1  

    Conserved Domains (2) summary
    pfam06747
    Location:188222
    CHCH; CHCH domain
    pfam05300
    Location:14180
    DUF737; Protein of unknown function (DUF737)
  2. XM_011516364.1XP_011514666.1  

    Conserved Domains (1) summary
    pfam05300
    Location:14125
    DUF737; Protein of unknown function (DUF737)
  3. XM_011516365.1XP_011514667.1  

    Conserved Domains (1) summary
    pfam05300
    Location:1495
    DUF737; Protein of unknown function (DUF737)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    132405107..132701867 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)