VIPAS39 (VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog)

2016-10-01  

Identity

HGNC
VIPAS39
LOCATION
14q24.3
LOCUSID
63894
ALIAS
C14orf133,SPE-39,SPE39,VIPAR,VPS16B,hSPE-39
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 63894
MIM: 613401
HGNC: 20347
Ensembl: ENSG00000151445

Variants:

dbSNP: 63894
ClinVar: 63894
TCGA: ENSG00000151445
COSMIC: VIPAS39

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151445ENST00000327028Q9H9C1
ENSG00000151445ENST00000343765Q9H9C1
ENSG00000151445ENST00000343765Q6IA61
ENSG00000151445ENST00000448935Q9H9C1
ENSG00000151445ENST00000553888Q9H9C1
ENSG00000151445ENST00000553888Q6IA61
ENSG00000151445ENST00000556412G3V4K3
ENSG00000151445ENST00000557466G3V549
ENSG00000151445ENST00000557658Q9H9C1
ENSG00000151445ENST00000557658Q6IA61

Expression (GTEx)

0
5
10
15
20
25
30
35
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

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
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
191094252009SPE-39 family proteins interact with the HOPS complex and function in lysosomal delivery.31
230021152012The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis.29
239186592013Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.9
280398952017Genetic profiling of children with advanced cholestatic liver disease.5
226771732012Inhibitory effect of SPE-39 due to tyrosine phosphorylation and ubiquitination on the function of Vps33B in the EGF-stimulated cells.2
268084262016Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis.0
319883822020FERARI is required for Rab11-dependent endocytic recycling.0

Citation

Dessen P

VIPAS39 (VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56331/vipas39