• Gene id: 83547

Gene Summary

• Gene Symbol: RILP   Gene   UCSC   Ensembl
• Aliases: PP10141
• Gene name: Rab interacting lysosomal protein
• Alternate names: rab-interacting lysosomal protein,
• Gene location: 17p13.3 (1650076: 1646149)     Exons: 8     NC_000017.11
• Gene summary(Entrez): This gene encodes a lysosomal protein that interacts with RAB7, a small GTPase that controls transport to endocytic degradative compartments. Studies using mutant forms of the two proteins suggest that this protein represents a downstream effector for RAB
• OMIM: 300647

Protein Summary

• Protein general information: Q96NA2  
  • Name: Rab interacting lysosomal protein
  • Length: 401  
  • Mass: 44200
  • Tissue specificity: Ubiquitous. Strongly expressed in fetal heart, heart, stomach, spleen, adrenal gland, thyroid gland, salivary gland, fetal liver, liver and lung. Poorly expressed in brain. {ECO
• Sequence:

  MEPRRAAPGVPGWGSREAAGSASAAELVYHLAGALGTELQDLARRFGPEAAAGLVPLVVRALELLEQAAVGPAPD
  SLQVSAQPAEQELRRLREENERLRRELRAGPQEERALLRQLKEVTDRQRDELRAHNRDLRQRGQETEALQEQLQR
  LLLVNAELRHKLAAMQTQLRAAQDRERERQQPGEAATPQAKERARGQAGRPGHQHGQEPEWATAGAGAPGNPEDP
  AEAAQQLGRPSEAGQCRFSREEFEQILQERNELKAKVFLLKEELAYFQRELLTDHRVPGLLLEAMKVAVRKQRKK
  IKAKMLGTPEEAESSEDEAGPWILLSDDKGDHPPPPESKIQSFFGLWYRGKAESSEDETSSPAPSKLGGEEEAQP
  QSPAPDPPCSALHEHLCLGASAAPEA

• Structural information:
  • Protein Domains: (11..10-)
    (/note="RH1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01112-)
    (240..31-)
    (/note="RH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01113"-)
  • Interpro: IPR019143  IPR034743  IPR034744  IPR021563  
  • Prosite: PS51776 PS51777
  • PDB: 1YHN
  • PDBsum: 1YHN
  • DIP: 29458
  • STRING: ENSP00000301336
• Other Databases: GeneCards:  RILP  Malacards:  RILP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031267	small GTPase binding	IPI	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0031267	small GTPase binding	IBA	molecular function
GO:0045022	early endosome to late endosome transport	IBA	biological process
GO:0051959	dynein light intermediate chain binding	IBA	molecular function
GO:0005764	lysosome	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0051959	dynein light intermediate chain binding	IPI	molecular function
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0005765	lysosomal membrane	TAS	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:0032991	protein-containing complex	IEA	cellular component
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0008333	endosome to lysosome transport	IMP	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0030670	phagocytic vesicle membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005770	late endosome	IDA	cellular component
GO:0010796	regulation of multivesicular body size	IDA	biological process
GO:0032509	endosome transport via multivesicular body sorting pathway	IDA	biological process
GO:0042177	negative regulation of protein catabolic process	IDA	biological process
GO:0017137	Rab GTPase binding	TAS	molecular function
GO:0015031	protein transport	NAS	biological process
GO:0005770	late endosome	NAS	cellular component
GO:0005765	lysosomal membrane	NAS	cellular component
GO:0070676	intralumenal vesicle formation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045022	early endosome to late endosome transport	IMP	biological process
GO:0045732	positive regulation of protein catabolic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05132	Salmonella infection
hsa04145	Phagosome

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq