• Gene id: 84303

Gene Summary

• Gene Symbol: CHCHD6   Gene   UCSC   Ensembl
• Aliases: CHCM1, MICOS25, Mic25, PPP1R23
• Gene name: coiled-coil-helix-coiled-coil-helix domain containing 6
• Alternate names: MICOS complex subunit MIC25, coiled coil helix cristae morphology 1, coiled-coil-helix cristae morphology protein 1, coiled-coil-helix-coiled-coil-helix domain-containing protein 6, mitochondrial, mitochondrial contact site and cristae organizing system subun,
• Gene location: 3q21.3 (130069893: 130144810)     Exons: 19     NC_000011.10
• OMIM: 615634

Protein Summary

• Protein general information: Q9BRQ6  
  • Name: MICOS complex subunit MIC25 (Coiled coil helix cristae morphology protein 1) (Coiled coil helix coiled coil helix domain containing protein 6)
  • Length: 235  
  • Mass: 26458
• Sequence:

  MGSTESSEGRRVSFGVDEEERVRVLQGVRLSENVVNRMKEPSSPPPAPTSSTFGLQDGNLRAPHKESTLPRSGSS
  GGQQPSGMKEGVKRYEQEHAAIQDKLFQVAKREREAATKHSKASLPTGEGSISHEEQKSVRLARELESREAELRR
  RDTFYKEQLERIERKNAEMYKLSSEQFHEAASKMESTIKPRRVEPVCSGLQAQILHCYRDRPHEVLLCSDLVKAY
  QRCVSAAHKG

• Structural information:
  • Protein Domains: (194..23-)
    (/note="CHCH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01150"-)
  • Interpro: IPR007964  IPR042860  
  • Prosite: PS51808
  • STRING: ENSP00000290913
• Other Databases: GeneCards:  CHCHD6  Malacards:  CHCHD6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IBA	biological process
GO:0042407	cristae formation	IBA	biological process
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:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0042407	cristae formation	IMP	biological process
GO:0005739	mitochondrion	IMP	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:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0007007	inner mitochondrial membrane organization	IC	biological process
GO:0061617	MICOS complex	HDA	cellular component
GO:0001401	SAM complex	HDA	cellular component
GO:0140275	MIB complex	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq