CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHCHD10provided by HGNC
Official Full Name: coiled-coil-helix-coiled-coil-helix domain containing 10provided by HGNC
Primary source: HGNC:HGNC:15559
See related: Ensembl:ENSG00000250479 MIM:615903; AllianceGenome:HGNC:15559
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: IMMD; SMAJ; MIX17A; FTDALS2; N27C7-4; C22orf16
Summary: This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]
Expression: Broad expression in heart (RPKM 56.7), colon (RPKM 43.9) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q11.23

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (23765834..23767972, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (24213028..24215165, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (24108021..24110159, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NDV inhibited IFN-beta secretion through impeding CHCHD10-mediated mitochondrial fusion to promote viral proliferation.
Title: NDV inhibited IFN-β secretion through impeding CHCHD10-mediated mitochondrial fusion to promote viral proliferation.
Disruption of Mitophagy Flux through the PARL-PINK1 Pathway by CHCHD10 Mutations or CHCHD10 Depletion.
Title: Disruption of Mitophagy Flux through the PARL-PINK1 Pathway by CHCHD10 Mutations or CHCHD10 Depletion.
Effects of the Jokela type of spinal muscular atrophy-related G66V mutation on the structural ensemble characteristics of CHCHD10.
Title: Effects of the Jokela type of spinal muscular atrophy-related G66V mutation on the structural ensemble characteristics of CHCHD10.
CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability.
Title: CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability.
CHCHD10 Modulates Thermogenesis of Adipocytes by Regulating Lipolysis.
Title: CHCHD10 Modulates Thermogenesis of Adipocytes by Regulating Lipolysis.
Modulation of synaptic plasticity, motor unit physiology, and TDP-43 pathology by CHCHD10.
Title: Modulation of synaptic plasticity, motor unit physiology, and TDP-43 pathology by CHCHD10.
Structures of the Wild-Type and S59L Mutant CHCHD10 Proteins Important in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.
Title: Structures of the Wild-Type and S59L Mutant CHCHD10 Proteins Important in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.
Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses.
Title: Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses.
Meta-analysis of the association between CHCHD10 Pro34Ser variant and the risk of amyotrophic lateral sclerosis.
Title: Meta-analysis of the association between CHCHD10 Pro34Ser variant and the risk of amyotrophic lateral sclerosis.
ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons.
Title: ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons.

Submit: New GeneRIF Correction See all GeneRIFs (44)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant mitochondrial myopathy with exercise intolerance MedGen: C4015513 OMIM: 616209 GeneReviews: CHCHD10-Related Disorders	Compare labs
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 MedGen: C4014648 OMIM: 615911 GeneReviews: Amyotrophic Lateral Sclerosis Overview, CHCHD10-Related Disorders	Compare labs
Lower motor neuron syndrome with late-adult onset MedGen: C3554398 OMIM: 615048 GeneReviews: CHCHD10-Related Disorders	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in maintenance of protein location in nucleus	ISS Inferred from Sequence or Structural Similarity more info
involved_in maintenance of synapse structure	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondria-nucleus signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial nucleoid organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in oxidative phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cristae formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitochondrial transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein-containing complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in stabilization of membrane potential	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of MICOS complex	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial intermembrane space	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP 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	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial

Names: MIX17 homolog A

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.

Genomic

NG_034223.1 RefSeqGene

Range

5001..7139

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001301339.2 → NP_001288268.1 coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).

Source sequence(s)

BC065232, BM128374, BM128609, CB112856

Consensus CDS

CCDS77659.1

UniProtKB/TrEMBL

B5MBW9

Related

ENSP00000384973.3, ENST00000401675.7

Conserved Domains (2) summary

pfam06747
Location:109 → 140

CHCH; CHCH domain

cl26593
Location:40 → 88

DUF2076; Uncharacterized protein conserved in bacteria (DUF2076)
NM_213720.3 → NP_998885.1 coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial isoform b precursor

See identical proteins and their annotated locations for NP_998885.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.

Source sequence(s)

BC065232, CB112856

Consensus CDS

CCDS13815.1

UniProtKB/Swiss-Prot

A8K0J5, Q8WYQ3

Related

ENSP00000418428.3, ENST00000484558.3

Conserved Domains (1) summary

pfam06747
Location:102 → 133

CHCH; CHCH domain

RNA

NR_125755.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC065232, CB112856, CN273854
NR_125756.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AI247342, BC065232, CB112856

Related

ENST00000520222.1