• Gene id: 79998

Gene Summary

• Gene Symbol: ANKRD53   Gene   UCSC   Ensembl
• Gene name: ankyrin repeat domain 53
• Alternate names: ankyrin repeat domain-containing protein 53,
• Gene location: 2p13.3 (70978444: 70986676)     Exons: 16     NC_000002.12
• OMIM: 617009

Protein Summary

• Protein general information: Q8N9V6  
  • Name: Ankyrin repeat domain containing protein 53
  • Length: 530  
  • Mass: 59571
• Sequence:

  MASAGSTARRAGSGSWHSERGEGRGARPQPTPSGSMQQANKVSLKATWTDAESKQPSQPLPDLADHLSAQATALA
  RPRRPASLTPPRADPSPSKESDQTAIDQTAIGSYYQLFAAAVGNVEWLRFCLNQSLREIPTDDKGFTAIHFAAQW
  GKLACLQVLVEEYKFPVDLLTNNSQTPLHLVIHRDNTTVALPCIYYLLEKGADLNAQTCNGSTPLHLAARDGLLD
  CVKVLVQSGANVHAQDAMGYKPIDFCKIWNHRACARFLKDAMWKKDKKDFAREMTKMKMFKSQLTLMEHNYLIEY
  QKEHKILREAAIRKWLHGKLHPGHSLVSNTKQARATALSKTPEQRESQRSRSFHPSVDARLQCIPQPTEMPKPIY
  RKPTVKRPTMWNVSNNPARPPTTQISHSQGIRLGVHPDPTPEHDFSSFLEVRPDGHGGARLHTVDGHWVAPVPRL
  PFEVLLRMLYPRVWPYRMKVPQGFYPISMREVPRKRHLGDNTFWTDTLAMNLRDTFDEAFLAAVRSHQGLPTLPS
  PQTNP

• Structural information:
  • Interpro: IPR042335  IPR002110  IPR020683  IPR036770  
  • Prosite: PS50297 PS50088
  • STRING: ENSP00000353796
• Other Databases: GeneCards:  ANKRD53  Malacards:  ANKRD53

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902412	regulation of mitotic cytokinesis	IBA	biological process
GO:0031116	positive regulation of microtubule polymerization	IBA	biological process
GO:0007080	mitotic metaphase plate congression	IBA	biological process
GO:0060236	regulation of mitotic spindle organization	IBA	biological process
GO:0000922	spindle pole	IBA	cellular component
GO:0005819	spindle	IDA	cellular component
GO:0000922	spindle pole	IDA	cellular component
GO:0007080	mitotic metaphase plate congression	IMP	biological process
GO:1902412	regulation of mitotic cytokinesis	IMP	biological process
GO:0031116	positive regulation of microtubule polymerization	IMP	biological process
GO:0060236	regulation of mitotic spindle organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1902412	regulation of mitotic cytokinesis	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005819	spindle	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)