• Gene id: 126549

Gene Summary

• Gene Symbol: ANKLE1   Gene   UCSC   Ensembl
• Aliases: ANKRD41, LEM3, LEMD6
• Gene name: ankyrin repeat and LEM domain containing 1
• Alternate names: ankyrin repeat and LEM domain-containing protein 1, LEM domain containing 6, LEM-domain containing 3, ankyrin repeat domain-containing protein 41,
• Gene location: 19p13.11 (17281900: 17287645)     Exons: 9     NC_000019.10

Protein Summary

• Protein general information: Q8NAG6  
  • Name: Ankyrin repeat and LEM domain containing protein 1 (EC 3.1. . ) (Ankyrin repeat domain containing protein 41) (LEM domain containing protein 3)
  • Length: 615  
  • Mass: 66890
  • Tissue specificity: Expression is predominant in adult bone marrow. {ECO
• Sequence:

  MCSEARLARRLRDALREEEPWAVEELLRCGADPNLVLEDGAAAVHLAAGARHPRGLRCLGALLRQGGDPNARSVE
  ALTPLHVAAAWGCRRGLELLLSQGADPALRDQDGLRPLDLALQQGHLECARVLQDLDTRTRTRTRIGAETQEPEP
  APGTPGLSGPTDETLDSIALQKQPCRGDNRDIGLEADPGPPSLPVPLETVDKHGSSASPPGHWDYSSDASFVTAV
  EVSGAEDPASDTPPWAGSLPPTRQGLLHVVHANQRVPRSQGTEAELNARLQALTLTPPNAAGFQSSPSSMPLLDR
  SPAHSPPRTPTPGASDCHCLWEHQTSIDSDMATLWLTEDEASSTGGREPVGPCRHLPVSTVSDLELLKGLRALGE
  NPHPITPFTRQLYHQQLEEAQIAPGPEFSGHSLELAAALRTGCIPDVQADEDALAQQFEQPDPARRWREGVVKSS
  FTYLLLDPRETQDLPARAFSLTPAERLQTFIRAIFYVGKGTRARPYVHLWEALGHHGRSRKQPHQACPKVRQILD
  IWASGCGVVSLHCFQHVVAVEAYTREACIVEALGIQTLTNQKQGHCYGVVAGWPPARRRRLGVHLLHRALLVFLA
  EGERQLHPQDIQARG

• Structural information:
  • Protein Domains: (355..39-)
    (/note="LEM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00313-)
    (448..56-)
    (/note="GIY-YIG-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00977"-)
  • Interpro: IPR034998  IPR002110  IPR020683  IPR036770  IPR000305   IPR011015  IPR003887  
  • Prosite: PS50297 PS50088 PS50164 PS50954
  • STRING: ENSP00000377971
• Other Databases: GeneCards:  ANKLE1  Malacards:  ANKLE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004519	endonuclease activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0004519	endonuclease activity	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	colocalizes with
GO:2001022	positive regulation of response to DNA damage stimulus	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IC	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0004519	endonuclease activity	IDA	molecular function
GO:0006611	protein export from nucleus	IDA	biological process
GO:0006611	protein export from nucleus	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IMP	colocalizes with

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)