RBSN (rabenosyn, RAB effector)

2016-10-01  

Identity

HGNC
RBSN
LOCATION
3p25.1
LOCUSID
64145
ALIAS
Rabenosyn-5,ZFYVE20
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
356524442022RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.0
356524442022RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.0
319883822020FERARI is required for Rab11-dependent endocytic recycling.35
319883822020FERARI is required for Rab11-dependent endocytic recycling.35
297846382018Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.0
297846382018Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.0
252338402014Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.13
252338402014Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.13
223083882012Rabenosyn-5 defines the fate of the transferrin receptor following clathrin-mediated endocytosis.44
223083882012Rabenosyn-5 defines the fate of the transferrin receptor following clathrin-mediated endocytosis.44
199312442010Common and distinct roles for the binding partners Rabenosyn-5 and Vps45 in the regulation of endocytic trafficking in mammalian cells.27
199312442010Common and distinct roles for the binding partners Rabenosyn-5 and Vps45 in the regulation of endocytic trafficking in mammalian cells.27
160344202005Structural basis of family-wide Rab GTPase recognition by rabenosyn-5.111
160344202005Structural basis of family-wide Rab GTPase recognition by rabenosyn-5.111

Citation

Dessen P

RBSN (rabenosyn, RAB effector)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

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