VPS45 (vacuolar protein sorting 45 homolog)

2014-11-01  

Identity

HGNC
VPS45
LOCATION
1q21.2
LOCUSID
11311
ALIAS
H1,H1VPS45,SCN5,VPS45A,VPS45B,VPS54A,VSP45,VSP45A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11311
MIM: 610035
HGNC: 14579
Ensembl: ENSG00000136631

Variants:

dbSNP: 11311
ClinVar: 11311
TCGA: ENSG00000136631
COSMIC: VPS45

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136631ENST00000369128Q9NRW7
ENSG00000136631ENST00000419023A0A1B0GXI6
ENSG00000136631ENST00000462852B7Z7G7
ENSG00000136631ENST00000491789A0A2R8YF01
ENSG00000136631ENST00000535106Q9NRW7
ENSG00000136631ENST00000611412A0A087WU65
ENSG00000136631ENST00000642919A0A2R8YDP1
ENSG00000136631ENST00000643611A0A2R8Y7W9
ENSG00000136631ENST00000643970A0A2R8YE10
ENSG00000136631ENST00000644510Q9NRW7
ENSG00000136631ENST00000644526A0A2R8YD95
ENSG00000136631ENST00000644704A0A2R8YEX8

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Intra-Golgi trafficREACTOMER-HSA-6811438

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
237385102013A congenital neutrophil defect syndrome associated with mutations in VPS45.29
235992702013The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy.18
199312442010Common and distinct roles for the binding partners Rabenosyn-5 and Vps45 in the regulation of endocytic trafficking in mammalian cells.16
263587562015Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.7
319883822020FERARI is required for Rab11-dependent endocytic recycling.0

Citation

Dessen P

VPS45 (vacuolar protein sorting 45 homolog)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75638/vps45