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CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 [ Homo sapiens (human) ]

Gene ID: 84303, updated on 5-Jan-2022

Summary

Official Symbol
CHCHD6provided by HGNC
Official Full Name
coiled-coil-helix-coiled-coil-helix domain containing 6provided by HGNC
Primary source
HGNC:HGNC:28184
See related
Ensembl:ENSG00000159685 MIM:615634
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
CHCM1; Mic25; MICOS25; PPP1R23
Summary
Involved in cellular response to DNA damage stimulus and cristae formation. Located in cytosol and mitochondrial inner membrane. Part of MICOS complex. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Broad expression in testis (RPKM 1.6), brain (RPKM 0.9) and 25 other tissues See more
Orthologs
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Genomic context

See CHCHD6 in Genome Data Viewer
Location:
3q21.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (126704240..126960420)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (126423083..126679263)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene nucleoporin 210 pseudogene 1 Neighboring gene splicing factor 3a subunit 2 pseudogene Neighboring gene Sharpr-MPRA regulatory region 10778 Neighboring gene Sharpr-MPRA regulatory regions 1012 and 11425 Neighboring gene regulator of chromosome condensation 2 pseudogene 4 Neighboring gene Sharpr-MPRA regulatory region 387 Neighboring gene Sharpr-MPRA regulatory region 11201 Neighboring gene Sharpr-MPRA regulatory region 421 Neighboring gene plexin A1

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

  • MGC13016

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 cellular response to DNA damage stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cristae formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cristae formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in inner mitochondrial membrane organization IC
Inferred by Curator
more info
PubMed 
Component Evidence Code Pubs
part_of MIB complex HDA PubMed 
part_of MICOS complex HDA PubMed 
part_of MICOS complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of SAM complex HDA PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
MICOS complex subunit MIC25
Names
coiled coil helix cristae morphology 1
coiled-coil-helix cristae morphology protein 1
coiled-coil-helix-coiled-coil-helix domain-containing protein 6, mitochondrial
mitochondrial contact site and cristae organizing system subunit 25
protein phosphatase 1, regulatory subunit 23

NCBI Reference Sequences (RefSeq)

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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_001320610.2NP_001307539.1  MICOS complex subunit MIC25 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC117450, AK310910, BC006123, BG192698, DN992600
    UniProtKB/Swiss-Prot
    Q9BRQ6
    Related
    ENSP00000422912.1, ENST00000508789.5
    Conserved Domains (1) summary
    pfam05300
    Location:17190
    DUF737; Protein of unknown function (DUF737)
  2. NM_032343.3NP_115719.1  MICOS complex subunit MIC25 isoform 2

    See identical proteins and their annotated locations for NP_115719.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC117450, BC006123, DN992600
    Consensus CDS
    CCDS3041.1
    UniProtKB/Swiss-Prot
    Q9BRQ6
    Related
    ENSP00000290913.3, ENST00000290913.8
    Conserved Domains (1) summary
    pfam05300
    Location:17189
    DUF737; Protein of unknown function (DUF737)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    126704240..126960420
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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