• Gene id: 353116

Gene Summary

• Gene Symbol: RILPL1   Gene   UCSC   Ensembl
• Aliases: GOSPEL, RLP1
• Gene name: Rab interacting lysosomal protein like 1
• Alternate names: RILP-like protein 1, GAPDH competitor of SIAH protein enhances life,
• Gene location: 12q24.31 (123533718: 123470053)     Exons: 14     NC_000012.12
• OMIM: 610363

Protein Summary

• Protein general information: Q5EBL4  
  • Name: RILP like protein 1 (Rab interacting lysosomal like protein 1)
  • Length: 403  
  • Mass: 47108
  • Tissue specificity: Widely expressed. Expressed at lower level in liver and kidney. {ECO
• Sequence:

  MEEERGSALAAESALEKNVAELTVMDVYDIASLVGHEFERVIDQHGCEAIARLMPKVVRVLEILEVLVSRHHVAP
  ELDELRLELDRLRLERMDRIEKERKHQKELELVEDVWRGEAQDLLSQIAQLQEENKQLMTNLSHKDVNFSEEEFQ
  KHEGMSERERQVMKKLKEVVDKQRDEIRAKDRELGLKNEDVEALQQQQTRLMKINHDLRHRVTVVEAQGKALIEQ
  KVELEADLQTKEQEMGSLRAELGKLRERLQGEHSQNGEEEPETEPVGEESISDAEKVAMDLKDPNRPRFTLQELR
  DVLHERNELKSKVFLLQEELAYYKSEEMEEENRIPQPPPIAHPRTSPQPESGIKRLFSFFSRDKKRLANTQRNVH
  IQESFGQWANTHRDDGYTEQGQEALQHL

• Structural information:
  • Protein Domains: (10..9-)
    (/note="RH1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01112-)
    (291..35-)
    (/note="RH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01113"-)
  • Interpro: IPR019143  IPR034743  IPR034744  IPR021563  
  • Prosite: PS51776 PS51777
  • STRING: ENSP00000366070
• Other Databases: GeneCards:  RILPL1  Malacards:  RILPL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051959	dynein light intermediate chain binding	IBA	molecular function
GO:0031267	small GTPase binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:1903445	protein transport from ciliary membrane to plasma membrane	ISS	biological process
GO:0005829	cytosol	ISS	cellular component
GO:0005813	centrosome	ISS	cellular component
GO:0005929	cilium	ISS	cellular component
GO:0003382	epithelial cell morphogenesis	ISS	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005813	centrosome	IEA	cellular component
GO:1903445	protein transport from ciliary membrane to plasma membrane	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0003382	epithelial cell morphogenesis	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:1901214	regulation of neuron death	IEA	biological process
GO:1901214	regulation of neuron death	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1901214	regulation of neuron death	ISS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq