• Gene id: 55631

Gene Summary

• Gene Symbol: LRRC40   Gene   UCSC   Ensembl
• Aliases: dJ677H15.1
• Gene name: leucine rich repeat containing 40
• Alternate names: leucine-rich repeat-containing protein 40, testicular tissue protein Li 109,
• Gene location: 1p31.1 (70205675: 70144804)     Exons: 15     NC_000001.11

Protein Summary

• Protein general information: Q9H9A6  
  • Name: Leucine rich repeat containing protein 40
  • Length: 602  
  • Mass: 68250
• Sequence:

  MSRLKRIAGQDLRAGFKAGGRDCGTSVPQGLLKAARKSGQLNLSGRNLSEVPQCVWRINVDIPEEANQNLSFGAT
  ERWWEQTDLTKLIISNNKLQSLTDDLRLLPALTVLDIHDNQLTSLPSAIRELENLQKLNVSHNKLKILPEEITNL
  RNLKCLYLQHNELTCISEGFEQLSNLEDLDLSNNHLTTVPASFSSLSSLVRLNLSSNELKSLPAEINRMKRLKHL
  DCNSNLLETIPPELAGMESLELLYLRRNKLRFLPEFPSCSLLKELHVGENQIEMLEAEHLKHLNSILVLDLRDNK
  LKSVPDEIILLRSLERLDLSNNDISSLPYSLGNLHLKFLALEGNPLRTIRREIISKGTQEVLKYLRSKIKDDGPS
  QSESATETAMTLPSESRVNIHAIITLKILDYSDKQATLIPDEVFDAVKSNIVTSINFSKNQLCEIPKRMVELKEM
  VSDVDLSFNKLSFISLELCVLQKLTFLDLRNNFLNSLPEEMESLVRLQTINLSFNRFKMLPEVLYRIFTLETILI
  SNNQVGSVDPQKMKMMENLTTLDLQNNDLLQIPPELGNCVNLRTLLLDGNPFRVPRAAILMKGTAAILEYLRDRI
  PT

• Structural information:
  • Interpro: IPR001611  IPR025875  IPR003591  IPR032675  
  • Prosite: PS51450
  • STRING: ENSP00000359990
• Other Databases: GeneCards:  LRRC40  Malacards:  LRRC40

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R