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RBSN - rabenosyn, RAB effector Gene

Also Known as ZFYVE20; Rabenosyn-5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 64145

About RBSN

Cytogenetic location: 3p25.1 Genomic coordinates (GRCh38): 3:15,070,073-15,099,148 (from NCBI)

This gene has 9 transcripts (splice variants), 202 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 10.8), thyroid (RPKM 6.4) and 25 other tissues.

Summary

This gene encodes a protein that belongs to the FYVE zinc finger family of proteins. The encoded protein interacts with Ras-related proteins that regulate membrane trafficking. A missense mutation in this gene is associated with a defect in the early endocytic pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

RBSN Products (2)

mRNA	Protein	Name
NM_001302378.2	NP_001289307.1	rabenosyn-5
NM_022340.4	NP_071735.2	rabenosyn-5

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15020713	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Golgi to lysosome transport	IMP IMP: Inferred from mutant phenotype	19139087	GOA
involved in early endosome to Golgi transport	IMP IMP: Inferred from mutant phenotype	19139087	GOA
involved in regulation of Golgi organization	IMP IMP: Inferred from mutant phenotype	19139087	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

RBSN Protein Structure

FYVE

Rbsn

0
200
400
600
784 a.a.

Protein Preferred Names	Protein Names
rabenosyn-5	110 kDa protein

RBSN Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RBSN	Q9H1K0	VPS45	Homo sapiens	Q9NRW7	Anti Tag CoIP	33961781
Intra	RBSN	Q9H1K0	VPS45	Homo sapiens	Q9NRW7	Y2H Prey Pooling	25416956
Intra	RBSN	Q9H1K0	VPS45	Homo sapiens	Q9NRW7	Anti Tag CoIP	35271311
Intra	RBSN	Q9H1K0	VPS45	Homo sapiens	Q9NRW7	Y2H Array	25416956
Intra	RBSN	Q9H1K0	VPS45	Homo sapiens	Q9NRW7	Anti Tag CoIP	28514442
Intra	RBSN	Q9H1K0	EHD3	Homo sapiens	Q9NZN3	Y2H	15020713
Intra	RBSN	Q9H1K0	EHD3	Homo sapiens	Q9NZN3	Anti Tag CoIP	33961781
Intra	RBSN	Q9H1K0	EHD3	Homo sapiens	Q9NZN3	Anti Tag CoIP	28514442
Intra	RBSN	Q9H1K0	EHD1	Homo sapiens	Q9H4M9	Anti Tag CoIP	33961781
Intra	RBSN	Q9H1K0	EHD1	Homo sapiens	Q9H4M9	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Severe Congenital Neutropenia 5	Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome Vps45 Deficiency Scn5
Cataract 14, Multiple Types	Cataract 14 Multiple Types CTRCT14 Czp3 Cae3 Cataract, Zonular Pulverulent 3 Zonular Pulverulent Cataract 3 Cataract, Zonular Pulverulent-3 Cataract, Type 14, Multiple Types
Gaucher Disease, Type Iii	Gaucher Disease, Subacute Neuronopathic Type Gd Iii Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease Type 3 GD3 Gaucher'S Disease Type Iii Gaucher Disease Type Iii Gd 3 Cerebral Juvenile And Adult Form Of Gaucher Disease Chronic Neuronopathic Gaucher Disease Gaucher Disease 3 Cerebral, Juvenile And Adult, Gaucher Disease Gaucher Disease Chronic Neuronopathic Type Gaucher Disease Type Ii Subacute Neuronopathic Gaucher Disease Type 3 Gaucher Disease Gaucher Disease, Type 3 Gaucher Disease, Type 2

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11775	RBSN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	RBSN	RGD	RGD:1305397
Macaca mulatta	RBSN	VGNC	VGNC:76784
Mus musculus	RBSN	MGD	MGI:1925537
Canis familiaris	RBSN	VGNC	VGNC:97217
Bos taurus	RBSN	VGNC	VGNC:33818
Felis catus	RBSN	VGNC	VGNC:64539
Others	RBSN	NCBI