• Gene id: 125988

Gene Summary

• Gene Symbol: MICOS13   Gene   UCSC   Ensembl
• Aliases: C19orf70, MIC13, P117, QIL1
• Gene name: mitochondrial contact site and cristae organizing system subunit 13
• Alternate names: MICOS complex subunit MIC13, protein QIL1,
• Gene location: 19p13.3 (5680895: 5678413)     Exons: 6     NC_000019.10
• OMIM: 616658

Protein Summary

• Protein general information: Q5XKP0  
  • Name: MICOS complex subunit MIC13 (Protein P117)
  • Length: 118  
  • Mass: 13087
• Sequence:

  MVARVWSLMRFLIKGSVAGGAVYLVYDQELLGPSDKSQAALQKAGEVVPPAMYQFSQYVCQQTGLQIPQLPAPPK
  IYFPIRDSWNAGIMTVMSALSVAPSKAREYSKEGWEYVKARTK

• Structural information:
  • Interpro: IPR026769  
  • STRING: ENSP00000309561
• Other Databases: GeneCards:  MICOS13  Malacards:  MICOS13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044284	mitochondrial crista junction	IBA	cellular component
GO:0042407	cristae formation	IBA	biological process
GO:0061617	MICOS complex	IBA	cellular component
GO:0061617	MICOS complex	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0044284	mitochondrial crista junction	IDA	cellular component
GO:0042407	cristae formation	IMP	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of 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:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0007007	inner mitochondrial membrane organization	IC	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
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray