RILP - Rab interacting lysosomal protein Gene

Also Known as PP10141

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 83547

About RILP

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:1,646,150-1,649,866 (from NCBI)

This gene has 4 transcripts (splice variants), 1 gene allele, 185 orthologues and 4 paralogues. Ubiquitous expression in fat (RPKM 11.4), duodenum (RPKM 8.5) and 25 other tissues.

Summary

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 RAB7, and both proteins act together in the regulation of late endocytic traffic. A unique region of this protein has also been shown to be involved in the regulation of lysosomal morphology. [provided by RefSeq, Sep 2011]

RILP Products (1)

mRNA	Protein	Name
NM_031430.3	NP_113618.2	rab-interacting lysosomal protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables dynein light intermediate chain binding	IPI IPI: Inferred from physical interaction	25272277	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15933719	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	18272684	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in early endosome to late endosome transport	IMP IMP: Inferred from mutant phenotype	17959629	GOA
involved in endosome to lysosome transport	IMP IMP: Inferred from mutant phenotype	18272684	GOA
involved in endosome transport via multivesicular body sorting pathway	IDA IDA: Inferred from direct assay	17010938	GOA
involved in intralumenal vesicle formation	IMP IMP: Inferred from mutant phenotype	17959629	GOA
involved in negative regulation of protein catabolic process	IDA IDA: Inferred from direct assay	17010938	GOA
involved in positive regulation of protein catabolic process	IMP IMP: Inferred from mutant phenotype	17959629	GOA
involved in regulation of multivesicular body size	IDA IDA: Inferred from direct assay	17010938	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in late endosome	IDA IDA: Inferred from direct assay	17010938	GOA
located in lysosome	IDA IDA: Inferred from direct assay	18272684	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RILP Protein Structure

Jnk-SapK_ap_N

RILP

0
100
200
300
401 a.a.

Protein Preferred Names	Protein Names
rab-interacting lysosomal protein

RILP Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RILP	Q96NA2	RAB7A	Homo sapiens	P51149	Pull Down	25500191
Intra	RILP	Q96NA2	RAB7A	Homo sapiens	P51149	Y2H	15933719
Intra	RILP	Q96NA2	RAB7A	Homo sapiens	P51149	Anti Tag CoIP	33961781
Intra	RILP	Q96NA2	RAB7A	Homo sapiens	P51149	GMS	30721249
Intra	RILP	Q96NA2	RAB7A	Homo sapiens	P51149	Pull Down	18787122
Intra	RILP	Q96NA2	VPS41	Homo sapiens	P49754	Pull Down	25445562
Intra	RILP	Q96NA2	VPS41	Homo sapiens	P49754	IF	25445562

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Charcot-Marie-Tooth Disease, Axonal, Type 2b	Charcot-Marie-Tooth Disease Type 2b CMT2B Hmsn Iib Hmsn2b Charcot-Marie-Tooth Disease, Type 2b Hereditary Motor And Sensory Neuropathy Iib Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b Charcot-Marie-Tooth Neuropathy Type 2b Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b Charcot-Marie-Tooth Neuropathy, Type 2b Hereditary Motor And Sensory Nueropathy Iib Cmt 2b Charcot Marie Tooth Disease Type 2b Charcot-Marie-Tooth Disease, Neuronal, Type 2b Hereditary Motor And Sensory Neuropathy 2 B Peripheral Sensory Neuropathy, Autosomal Dominant Charcot-Marie-Tooth Disease 2b Charcot-Marie-Tooth Disease Axonal Type 2b Charcot-Marie-Tooth Disease Neuronal Type 2b Peripheral Sensory Neuropathy Autosomal Dominant Psn
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11973	RILP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11093	PRICKLE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RILP	VGNC	VGNC:82422
Rattus norvegicus	RILP	RGD	RGD:1307691
Macaca mulatta	RILP	VGNC	VGNC:76866
Bos taurus	RILP	VGNC	VGNC:33966
Mus musculus	RILP	MGD	MGI:2144271
Canis familiaris	RILP	VGNC	VGNC:45576
Others	RILP	NCBI