• Gene id: 122769

Gene Summary

• Gene Symbol: LRR1   Gene   UCSC   Ensembl
• Aliases: 4-1BBLRR, LRR-1, PPIL5
• Gene name: leucine rich repeat protein 1
• Alternate names: leucine-rich repeat protein 1, 4-1BB-mediated signaling molecule, LRR-repeat protein 1, cyclophilin-like 5, epididymis secretory sperm binding protein, peptidylprolyl isomerase (cyclophilin)-like 5, peptidylprolyl isomerase-like 5,
• Gene location: 14q21.3 (49598696: 49614671)     Exons: 10     NC_000014.9
• Gene summary(Entrez): The protein encoded by this gene contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor receptor (TNFR) superfamily. Overexpression of this gene suppresses the activation of NF-kappa B ind
• OMIM: 609193

Protein Summary

• Protein general information: Q96L50  
  • Name: Leucine rich repeat protein 1 (4 1BB mediated signaling molecule) (4 1BBlrr) (LRR repeat protein 1) (LRR 1) (Peptidylprolyl isomerase like 5)
  • Length: 414  
  • Mass: 46723
  • Tissue specificity: Ubiquitous. Maximal expression was seen in the heart and skeletal muscle and minimal expression seen in the kidney.
• Sequence:

  MKLHCEVEVISRHLPALGLRNRGKGVRAVLSLCQQTSRSQPPVRAFLLISTLKDKRGTRYELRENIEQFFTKFVD
  EGKATVRLKEPPVDICLSKAISSSLKGFLSAMRLAHRGCNVDTPVSTLTPVKTSEFENFKTKMVITSKKDYPLSK
  NFPYSLEHLQTSYCGLVRVDMRMLCLKSLRKLDLSHNHIKKLPATIGDLIHLQELNLNDNHLESFSVALCHSTLQ
  KSLRSLDLSKNKIKALPVQFCQLQELKNLKLDDNELIQFPCKIGQLINLRFLSAARNKLPFLPSEFRNLSLEYLD
  LFGNTFEQPKVLPVIKLQAPLTLLESSARTILHNRIPYGSHIIPFHLCQDLDTAKICVCGRFCLNSFIQGTTTMN
  LHSVAHTVVLVDNLGGTEAPIISYFCSLGCYVNSSDMLK

• Structural information:
  • Interpro: IPR001611  IPR025875  IPR003591  IPR032675  
  • Prosite: PS51450
  • STRING: ENSP00000298288
• Other Databases: GeneCards:  LRR1  Malacards:  LRR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IBA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016567	protein ubiquitination	IEA	biological process

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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R