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

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: mouse all
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Genomic context

Location:: 7q32.3-q33

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (132784870..133082090, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (134106386..134403617, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (132469631..132766850, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sam50-Mic19-Mic60 axis determines mitochondrial cristae architecture by mediating mitochondrial outer and inner membrane contact.
Title: Sam50-Mic19-Mic60 axis determines mitochondrial cristae architecture by mediating mitochondrial outer and inner membrane contact.
Multicolor 3D MINFLUX nanoscopy of mitochondrial MICOS proteins.
Title: Multicolor 3D MINFLUX nanoscopy of mitochondrial MICOS proteins.
Sub-mitochondrial localization of the genetic-tagged mitochondrial intermembrane space-bridging components Mic19, Mic60 and Sam50.
Title: Sub-mitochondrial localization of the genetic-tagged mitochondrial intermembrane space-bridging components Mic19, Mic60 and Sam50.
The findings suggest that Mic19 is a redox-dependent regulator of mitochondrial contact site and crista organizing system complex function.
Title: The Oxidation Status of Mic19 Regulates MICOS Assembly.
both the myristoylation and the CHCH domain are essential for the import and mitochondrial localization of ChChd3. Once imported, ChChd3 binds to Mia40 for further folding and assembly into macromolecular complexes.
Title: Targeting and import mechanism of coiled-coil helix coiled-coil helix domain-containing protein 3 (ChChd3) into the mitochondrial intermembrane space.
ChChd3 is a scaffolding protein that stabilizes protein complexes involved in maintaining crista architecture and protein import and is thus essential for maintaining mitochondrial structure and function.
Title: ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
mitofilin helps regulate mitochondrial morphology and at least four of the associated proteins (metaxins 1 and 2, SAM50 and CHCHD3) have been implicated in protein import
Title: The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11.

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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

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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Markers

IB3127 (e-PCR)
- UniSTS:68392

A004S13 (e-PCR)
- UniSTS:40493

A003B39 (e-PCR)
- UniSTS:57666

GDB:4585575 (e-PCR)
- UniSTS:18779

RH66367 (e-PCR)
- UniSTS:45405

A006U30 (e-PCR)
- UniSTS:43885

G65571 (e-PCR)
- UniSTS:225415

D7S640 (e-PCR), detects polymorphism
- UniSTS:144

GDB:451619 (e-PCR)
- UniSTS:157328

SHGC-58524 (e-PCR)
- UniSTS:94379

D7S640 (e-PCR), detects polymorphism
- UniSTS:57536

SHGC-151105 (e-PCR)
- UniSTS:173272

D7S2645 (e-PCR)
- UniSTS:12251

G65719 (e-PCR)
- UniSTS:225506

SHGC-30795 (e-PCR)
- UniSTS:66279

D7S1771 (e-PCR)
- UniSTS:79083

D7S1566 (e-PCR)
- UniSTS:3831

SHGC-152102 (e-PCR)
- UniSTS:177402

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

Component	Evidence Code	Pubs
part_of MIB complex	HDA more info	PubMed
part_of MICOS complex	HDA more info	PubMed
part_of MICOS complex	IBA Inferred from Biological aspect of Ancestor more info
part_of MICOS complex	IDA Inferred from Direct Assay more info	PubMed
part_of MICOS complex	NAS Non-traceable Author Statement more info	PubMed
part_of SAM complex	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in mitochondrial crista junction	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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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)

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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)

NM_001317177.2 → NP_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:15 → 180

DUF737; Protein of unknown function (DUF737)

pfam06747
Location:188 → 220

CHCH; CHCH domain
NM_001317178.2 → NP_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:15 → 125

DUF737; Protein of unknown function (DUF737)
NM_017812.4 → NP_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:15 → 175

DUF737; Protein of unknown function (DUF737)

RNA

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