• Gene id: 54741

Gene Summary

• Gene Symbol: LEPROT   Gene   UCSC   Ensembl
• Aliases: LEPR, OB-RGRP, OBRGRP, VPS55
• Gene name: leptin receptor overlapping transcript
• Alternate names: leptin receptor gene-related protein, DnaJ (Hsp40) homolog, subfamily C, member 6, OB-R gene-related protein, endospanin, endospanin-1, leptin receptor overlapping transcript protein,
• Gene location: 1p31.3 (65420667: 65436006)     Exons: 19     NC_000001.11
• Gene summary(Entrez): LEPROT is associated with the Golgi complex and endosomes and has a role in cell surface expression of growth hormone receptor (GHR; MIM 600946) and leptin receptor (OBR, or LEPR; MIM 601007), thereby altering receptor-mediated cell signaling (Couturier e
• OMIM: 613461

Protein Summary

• Protein general information: O15243  
  • Name: Leptin receptor gene related protein (Endospanin 1) (Leptin receptor overlapping transcript protein) (OB R gene related protein) (OB RGRP)
  • Length: 131  
  • Mass: 14254
  • Tissue specificity: Expressed at the highest levels in heart and placenta and at a lesser extent in lung, liver, skeletal muscle, kidney and pancreas.
• Sequence:

  MAGVKALVALSFSGAIGLTFLMLGCALEDYGVYWPLFVLIFHAISPIPHFIAKRVTYDSDATSSACRELAYFFTT
  GIVVSAFGFPVILARVAVIKWGACGLVLAGNAVIFLTIQGFFLIFGRGDDFSWEQW

• Structural information:
  • Interpro: IPR007262  
  • DIP: 29969
  • STRING: ENSP00000483521
• Other Databases: GeneCards:  LEPROT  Malacards:  LEPROT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903955	positive regulation of protein targeting to mitochondrion	HMP	biological process
GO:0005768	endosome	IBA	cellular component
GO:0046426	negative regulation of receptor signaling pathway via JAK-STAT	IBA	biological process
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0032511	late endosome to vacuole transport via multivesicular body sorting pathway	IBA	biological process
GO:0060400	negative regulation of growth hormone receptor signaling pathway	IBA	biological process
GO:2000009	negative regulation of protein localization to cell surface	IBA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
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: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: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:0000139	Golgi membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0046426	negative regulation of receptor signaling pathway via JAK-STAT	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:2000009	negative regulation of protein localization to cell surface	IDA	biological process
GO:0060400	negative regulation of growth hormone receptor signaling pathway	IDA	biological process
GO:0005102	signaling receptor binding	IDA	molecular function

Diseases

Associated diseases	References
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)