• Gene id: 54927

Gene Summary

• Gene Symbol: CHCHD3   Gene   UCSC   Ensembl
• Aliases: MICOS19, MINOS3, Mic19, PPP1R22
• Gene name: coiled-coil-helix-coiled-coil-helix domain containing 3
• Alternate names: MICOS complex subunit MIC19, 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, regulato,
• Gene location: 7q32.3-q33 (133082157: 132784861)     Exons: 13     NC_000007.14
• Gene summary(Entrez): 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.
• OMIM: 613748

Protein Summary

• Protein general information: Q9NX63  
  • Name: MICOS complex subunit MIC19 (Coiled coil helix coiled coil helix domain containing protein 3)
  • Length: 227  
  • Mass: 26152
  • Tissue specificity: Detected at low levels in brain, placenta, lung, liver, kidney and pancreas with increased levels in heart and skeletal muscle. Higher expression in primary lung cancers than in normal lung tissue. {ECO
• Sequence:

  MGGTTSTRRVTFEADENENITVVKGIRLSENVIDRMKESSPSGSKSQRYSGAYGASVSDEELKRRVAEELALEQA
  KKESEDQKRLKQAKELDRERAAANEQLTRAILRERICSEEERAKAKHLARQLEEKDRVLKKQDAFYKEQLARLEE
  RSSEFYRVTTEQYQKAAEEVEAKFKRYESHPVCADLQAKILQCYRENTHQTLKCSALATQYMHCVNHAKQSMLEK
  GG

• Structural information:
  • Protein Domains: (180..22-)
    (/note="CHCH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01150"-)
  • Interpro: IPR007964  
  • Prosite: PS51808
  • STRING: ENSP00000262570
• Other Databases: GeneCards:  CHCHD3  Malacards:  CHCHD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061617	MICOS complex	IDA	cellular component
GO:0061617	MICOS complex	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0019902	phosphatase binding	IDA	molecular function
GO:0042407	cristae formation	IMP	biological process
GO:0060090	molecular adaptor activity	ISS	molecular function
GO:0005743	mitochondrial inner membrane	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061617	MICOS complex	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0007007	inner mitochondrial membrane organization	IC	biological process
GO:0008053	mitochondrial fusion	IMP	biological process
GO:0005739	mitochondrion	ISS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005739	mitochondrion	HDA	cellular component
GO:0007007	inner mitochondrial membrane organization	IMP	biological process
GO:0061617	MICOS complex	HDA	cellular component
GO:0140275	MIB complex	HDA	cellular component
GO:0001401	SAM complex	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq