• Gene id: 54839

Gene Summary

• Gene Symbol: LRRC49   Gene   UCSC   Ensembl
• Aliases: PGs4
• Gene name: leucine rich repeat containing 49
• Alternate names: leucine-rich repeat-containing protein 49, tubulin polyglutamylase complex subunit 4,
• Gene location: 15q23 (80779369: 80951770)     Exons: 30     NC_000015.10

Protein Summary

• Protein general information: Q8IUZ0  
  • Name: Leucine rich repeat containing protein 49 (Tubulin polyglutamylase complex subunit 4) (PGs4)
  • Length: 686  
  • Mass: 78894
• Sequence:

  MIPGKYRSVSGRAANNVNCGLHLVIQTSSLPEKNKVEFKLNKDTSSFPGRLLQHDLERNYSSRQGDHINLVSSSL
  SSFPILQRSSEEKILYSDRLSLERQKLTVCPIINGEDHLRLLNFQHNFITRIQNISNLQKLISLDLYDNQIEEIS
  GLSTLRCLRVLLLGKNRIKKISNLENLKSLDVLDLHGNQITKIENINHLCELRVLNLARNFLSHVDNLNGLDSLT
  ELNLRHNQITFVRDVDNLPCLQHLFLSFNNISSFDSVSCLADSSSLSDITFDGNPIAQESWYKHTVLQNMMQLRQ
  LDMKRITEEERRMASVLAKKEEEKKRESHKQSLLKEKKRLTINNVARQWDLQQQRVANIATNEDRKDSDSPQDPC
  QIDGSTLSAFPEETGPLDSGLNNALQGLSVIDTYLVEVDGDTLSLYGSGALESLDRNWSVQTAGMITTVSFTFIE
  FDEIVQVLPKLKIKFPNSLHLKFKETNLVMLQQFNALAQLRRIDQLTIDPQGNPVVNFTLWKYYVLFRLSHFSMQ
  KINGTEVTQNDMIMAERLFGILAHVASSELPQYRLISILGDARKKQFRYLLESKGKKPGIINEENNDSKRLVGEN
  TNRATLNYTTRDFYNEKLEEIKEKKKFCKTYIEDLVKEATEINMKNEALQKLWPQMFIELVRDAVIEIRNKNSYM
  KLCLQQITDQK

• Structural information:
  • Protein Domains: (279..31-)
    (/note="LRRCT"-)
  • Interpro: IPR001611  IPR003591  IPR032675  
  • Prosite: PS51450
  • STRING: ENSP00000453273
• Other Databases: GeneCards:  LRRC49  Malacards:  LRRC49

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036158	outer dynein arm assembly	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component

Diseases

Associated diseases	References
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray