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CHCHD3 - coiled-coil-helix-coiled-coil-helix domain containing 3 Gene

Also Known as Mic19; MINOS3; MICOS19; PPP1R22

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54927

About CHCHD3

Cytogenetic location: 7q32.3-q33 Genomic coordinates (GRCh38): 7:132,784,870-133,082,090 (from NCBI)

This gene has 6 transcripts (splice variants), 255 orthologues and 1 paralogue. Ubiquitous expression in heart (RPKM 24.9), duodenum (RPKM 14.8) and 25 other tissues.

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]

CHCHD3 Products (3)

mRNA	Protein	Name
NM_001317177.2	NP_001304106.1	MICOS complex subunit MIC19 isoform 1
NM_001317178.2	NP_001304107.1	MICOS complex subunit MIC19 isoform 3
NM_017812.4	NP_060282.1	MICOS complex subunit MIC19 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables phosphatase binding	IDA IDA: Inferred from direct assay	19389623	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cristae formation	IMP IMP: Inferred from mutant phenotype	25781180	GOA
involved in inner mitochondrial membrane organization	IMP IMP: Inferred from mutant phenotype	21081504	GOA
involved in mitochondrial fusion	IMP IMP: Inferred from mutant phenotype	21081504	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of MICOS complex	IDA IDA: Inferred from direct assay	25781180	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	25781180	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHCHD3 Protein Structure

DUF737

0
100
200
227 a.a.

Protein Preferred Names	Protein Names
MICOS complex subunit MIC19	coiled-coil-helix-coiled-coil-helix domain-containing protein 3, mitochondrial

CHCHD3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CHCHD3	Q9NX63	KRT40	Homo sapiens	Q6A162	Y2H Prey Pooling	25416956
Intra	CHCHD3	Q9NX63	KRT40	Homo sapiens	Q6A162	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	PDE4DIP	Homo sapiens	Q5VU43	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	PDE4DIP	Homo sapiens	Q5VU43	Y2H Array	25416956
Intra	CHCHD3	Q9NX63	SHANK3	Homo sapiens	Q9BYB0	Crosslink	30021884
Intra	CHCHD3	Q9NX63	SSX2IP	Homo sapiens	Q9Y2D8	Y2H Array	25416956
Intra	CHCHD3	Q9NX63	SSX2IP	Homo sapiens	Q9Y2D8	Y2H Prey Pooling	25416956
Intra	CHCHD3	Q9NX63	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Prey Pooling	32296183
Intra	CHCHD3	Q9NX63	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Array	32296183
Intra	CHCHD3	Q9NX63	BLZF1	Homo sapiens	Q9H2G9	Y2H Array	32296183
Intra	CHCHD3	Q9NX63	BLZF1	Homo sapiens	Q9H2G9	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	BLZF1	Homo sapiens	Q9H2G9	Y2H Array	25416956
Intra	CHCHD3	Q9NX63	BLZF1	Homo sapiens	Q9H2G9	Y2H Prey Pooling	32296183
Intra	CHCHD3	Q9NX63	CHCHD6	Homo sapiens	Q9BRQ6	Crosslink	30021884
Intra	CHCHD3	Q9NX63	CHCHD6	Homo sapiens	Q9BRQ6	Anti Tag CoIP	33961781
Intra	CHCHD3	Q9NX63	PPP1CA	Homo sapiens	P62136	Far-WB	19389623
Intra	CHCHD3	Q9NX63	PPP1CA	Homo sapiens	P62136	Pull Down	19389623
Intra	CHCHD3	Q9NX63	TRAF1	Homo sapiens	Q13077	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	TRAF1	Homo sapiens	Q13077	Y2H Array	25416956
Intra	CHCHD3	Q9NX63	YWHAG	Homo sapiens	P61981	Validated Y2H	32814053
Intra	CHCHD3	Q9NX63	YWHAG	Homo sapiens	P61981	Y2H Pooling	32814053
Intra	CHCHD3	Q9NX63	YWHAG	Homo sapiens	P61981	Y2H Array	32814053
Intra	CHCHD3	Q9NX63	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	CHCHD3	Q9NX63	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	CHCHD3	Q9NX63	KAT5	Homo sapiens	Q92993	Y2H Array	32814053
Intra	CHCHD3	Q9NX63	KAT5	Homo sapiens	Q92993	Validated Y2H	32814053
Intra	CHCHD3	Q9NX63	KAT5	Homo sapiens	Q92993	Y2H Pooling	32814053
Intra	CHCHD3	Q9NX63	SPAG5	Homo sapiens	Q96R06	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	GOLGA2	Homo sapiens	Q08379	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	TRIM27	Homo sapiens	P14373	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	TRIM27	Homo sapiens	P14373	Y2H Array	25416956
Intra	CHCHD3	Q9NX63	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	CHCHD3	Q9NX63	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	CHCHD3	Q9NX63	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	CHCHD3	Q9NX63	CEP72	Homo sapiens	Q9P209	Y2H Array	32296183
Intra	CHCHD3	Q9NX63	CEP72	Homo sapiens	Q9P209	Y2H Prey Pooling	32296183
Intra	CHCHD3	Q9NX63	CEP72	Homo sapiens	Q9P209	Validated Y2H	32296183
Intra	CHCHD3	Q9NX63	CALCOCO2	Homo sapiens	Q13137	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	CALCOCO2	Homo sapiens	Q13137	Y2H Prey Pooling	25416956
Intra	CHCHD3	Q9NX63	CCDC85B	Homo sapiens	Q15834	Pull Down	16189514
Intra	CHCHD3	Q9NX63	LZTS2	Homo sapiens	Q9BRK4	Y2H Array	25416956
Intra	CHCHD3	Q9NX63	LZTS2	Homo sapiens	Q9BRK4	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	GMCL2	Homo sapiens	Q8NEA9	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	RAB3IP	Homo sapiens	Q96QF0	Y2H Prey Pooling	25416956
Intra	CHCHD3	Q9NX63	SAMM50	Homo sapiens	Q9Y512	Anti Tag CoIP	33961781
Intra	CHCHD3	Q9NX63	SAMM50	Homo sapiens	Q9Y512	Validated Y2H	32296183
Intra	CHCHD3	Q9NX63	SETDB1	Homo sapiens	Q15047-2	Y2H Array	32814053
Intra	CHCHD3	Q9NX63	SETDB1	Homo sapiens	Q15047-2	Y2H Pooling	32814053
Intra	CHCHD3	Q9NX63	SETDB1	Homo sapiens	Q15047-2	Validated Y2H	32814053
Intra	CHCHD3	Q9NX63	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Prey Pooling	25416956
Intra	CHCHD3	Q9NX63	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Combined Oxidative Phosphorylation Deficiency 37	COXPD37
Barth Syndrome	3-Methylglutaconic Aciduria Type 2 BTHS Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria Mga Type Ii Mga2 Mgca2 Mga Type 2 3-Methylglutaconic Aciduria Type Ii 3-Methylglutaconic Aciduria, Type Ii Mga, Type Ii 3-Methylglutaconicaciduria Type 2 3-Methylglutaconicaciduria Type Ii Taz Defect 3 Methylglutaconic Aciduria, Type Ii Dnajc19 Defect Cardioskeletal Myopathy-Neutropenia Syndrome X-Linked Cardioskeletal Myopathy And Neutropenia 3-Alpha-Methylglutaconic Aciduria Type 2 Agm2 Cardioskeletal Myopathy-Neutropenia Invm Left Ventricular Non-Compaction Isolated X-Linked Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked Agammaglobulinemia 2, Autosomal Recessive

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02600	CHCHD3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CHCHD3	VGNC	VGNC:60839
Mus musculus	CHCHD3	MGD	MGI:1913325
Canis familiaris	CHCHD3	VGNC	VGNC:39195
Bos taurus	CHCHD3	VGNC	VGNC:27272
Rattus norvegicus	CHCHD3	RGD	RGD:1310325
Macaca mulatta	CHCHD3	VGNC	VGNC:80860
Others	CHCHD3	NCBI