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

2016-10-01 Affiliation

Identity

HGNC

VIPAS39

LOCATION

14q24.3

LOCUSID

63894

ALIAS

C14orf133,SPE-39,SPE39,VIPAR,VPS16B,hSPE-39

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000151445	ENST00000327028	Q9H9C1
ENSG00000151445	ENST00000343765	Q9H9C1
ENSG00000151445	ENST00000343765	Q6IA61
ENSG00000151445	ENST00000448935	Q9H9C1
ENSG00000151445	ENST00000553888	Q9H9C1
ENSG00000151445	ENST00000553888	Q6IA61
ENSG00000151445	ENST00000556412	G3V4K3
ENSG00000151445	ENST00000557466	G3V549
ENSG00000151445	ENST00000557658	Q9H9C1
ENSG00000151445	ENST00000557658	Q6IA61

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
37062417	2023	The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B.	2
37062417	2023	The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B.	2
31988382	2020	FERARI is required for Rab11-dependent endocytic recycling.	35
31988382	2020	FERARI is required for Rab11-dependent endocytic recycling.	35
31501156	2019	Mechanism of platelet α-granule biogenesis: study of cargo transport and the VPS33B-VPS16B complex in a model system.	7
31501156	2019	Mechanism of platelet α-granule biogenesis: study of cargo transport and the VPS33B-VPS16B complex in a model system.	7
28039895	2017	Genetic profiling of children with advanced cholestatic liver disease.	14
28039895	2017	Genetic profiling of children with advanced cholestatic liver disease.	14
26808426	2016	Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis.	3
26808426	2016	Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis.	3
23918659	2013	Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.	12
23918659	2013	Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.	12
22677173	2012	Inhibitory effect of SPE-39 due to tyrosine phosphorylation and ubiquitination on the function of Vps33B in the EGF-stimulated cells.	2
23002115	2012	The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis.	35
22677173	2012	Inhibitory effect of SPE-39 due to tyrosine phosphorylation and ubiquitination on the function of Vps33B in the EGF-stimulated cells.	2

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/favicon/manifest.json