RILP - Rab interacting lysosomal protein Gene

Homo sapiens

Also known as PP10141

Gene ID: 83547 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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