RBSN (rabenosyn, RAB effector)

2016-10-01  

Identity

HGNC
LOCATION
3p25.1
LOCUSID
ALIAS
Rabenosyn-5,ZFYVE20
FUSION GENES

Other Information

Locus ID:

NCBI: 64145
MIM: 609511
HGNC: 20759
Ensembl: ENSG00000131381

Variants:

dbSNP: 64145
ClinVar: 64145
TCGA: ENSG00000131381
COSMIC: RBSN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131381ENST00000253699Q9H1K0
ENSG00000131381ENST00000253699A0A024R2H4
ENSG00000131381ENST00000426541H7C204
ENSG00000131381ENST00000441057F8WE50
ENSG00000131381ENST00000449050C9JZZ1
ENSG00000131381ENST00000476527Q9H1K0
ENSG00000131381ENST00000476527A0A024R2H4
ENSG00000131381ENST00000507357D6RD50

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Toll-Like Receptors CascadesREACTOMER-HSA-168898
Toll Like Receptor 9 (TLR9) CascadeREACTOMER-HSA-168138
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
160344202005Structural basis of family-wide Rab GTPase recognition by rabenosyn-5.85
223083882012Rabenosyn-5 defines the fate of the transferrin receptor following clathrin-mediated endocytosis.29
199312442010Common and distinct roles for the binding partners Rabenosyn-5 and Vps45 in the regulation of endocytic trafficking in mammalian cells.16
252338402014Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.9
297846382018Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.0
319883822020FERARI is required for Rab11-dependent endocytic recycling.0

Citation

Dessen P

RBSN (rabenosyn, RAB effector)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56002/rbsn