• Gene id: 136332

Gene Summary

• Gene Symbol: LRGUK   Gene   UCSC   Ensembl
• Aliases: CFAP246
• Gene name: leucine rich repeats and guanylate kinase domain containing
• Alternate names: leucine-rich repeat and guanylate kinase domain-containing protein,
• Gene location: 7q33 (134127339: 134282474)     Exons: 26     NC_000007.14
• OMIM: 182381

Protein Summary

• Protein general information: Q96M69  
  • Name: Leucine rich repeat and guanylate kinase domain containing protein
  • Length: 825  
  • Mass: 93618
• Sequence:

  MATSERALLRTRAASLLRGLGRSRTGARSLQFRAEKERQPCWSFPMGQKTKGSSNIASSYLLQQLMHRYQELDSD
  GDEDQGEGEAGSEESSESEMLNLEEEFDGVLREEAVAKALHHLGRSGSGTEQVYLNLTLSGCNLIDVSILCGYVH
  LQKLDLSANKIEDLSCVSCMPYLLELNASQNNLTTFFNFKPPKNLKKADFSHNQISEICDLSAYHALTKLILDGN
  EIEEISGLEMCNNLIHLSLANNKITTINGLNKLPIKILCLSNNQIEMITGLEDLKALQNLDLSHNQISSLQGLEN
  HDLLEVINLEDNKIAELREIEYIKNLPILRVLNLLENPIQEKSEYWFFVIFMLLRLTELDQKKIKVEEKVSAVNK
  YDPPPEVVAAQDHLTHVVNSVMQPQRIFDSTLPSLDAPYPMLILAGPEACGKRELAHRLCRQFSTYFRYGACHTT
  RPPYFGEGDRVDYHFISQDVFDEMVNMGKFILTFSYGNHKYGLNRDTVEGIARDGLASCIHMEIEGVRSLKYSYF
  EPRYILVVPMNKEKYEGYLRRKGLFSRAEIEFAVSRVDLYIKINQNFPGYFDEVINADDLDVAYQKLSQLIREYL
  GLTEEPAKSLATTADVKTSHLKPEAHPTKYISSNMGDFLHSTDRNYLIKFWAKLSAKKTPAERDSIHRQHEAARQ
  ALMGRIRPDHTLLFQRGPVPAPLTSGLHYYTTLEELWKSFDLCEDYFKPPFGPYPEKSGKDSLVSMKCSLFRFCP
  WSKELPFQPPEGSISSHLGSGASDSETEETRKALPIQSFSHEKESHQHRQHSVPVISRPGSNVKPTLPPIPQGRR

• Structural information:
  • Protein Domains: (337..37-)
    (/note="LRRCT-)
    (414..59-)
    (/note="Guanylate-kinase-like)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00100"-)
  • Interpro: IPR008145  IPR008144  IPR001611  IPR032675  IPR027417  
  • Prosite: PS50052 PS51450
  • STRING: ENSP00000285928
• Other Databases: GeneCards:  LRGUK  Malacards:  LRGUK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004385	guanylate kinase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0002177	manchette	ISS	cellular component
GO:0007283	spermatogenesis	ISS	biological process
GO:0001669	acrosomal vesicle	ISS	cellular component
GO:0035082	axoneme assembly	ISS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007283	spermatogenesis	IEA	biological process
GO:0002177	manchette	IEA	cellular component
GO:0035082	axoneme assembly	IEA	biological process
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0046710	GDP metabolic process	IEA	biological process
GO:0046037	GMP metabolic process	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881