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

Also Known as Mic19; MINOS3; MICOS19; PPP1R22

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子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 参考文献 由来
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 参考文献 由来
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 参考文献 由来
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

DUF737: Protein of unknown function (DUF737) (14 - 175)

  • 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
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
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

関連疾患

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)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS02600 CHCHD3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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