VPS51 (VPS51 subunit of GARP complex)

2014-11-01  

Identity

HGNC
VPS51
LOCATION
11q13.1
LOCUSID
738
ALIAS
ANG2,ANG3,C11orf2,C11orf3,FFR,PCH13

Other Information

Locus ID:

NCBI: 738
MIM: 615738
HGNC: 1172
Ensembl: ENSG00000149823

Variants:

dbSNP: 738
ClinVar: 738
TCGA: ENSG00000149823
COSMIC: VPS51

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149823ENST00000279281Q9UID3
ENSG00000149823ENST00000526578E9PMB6
ENSG00000149823ENST00000526856H0YEE1
ENSG00000149823ENST00000528588E9PQN6
ENSG00000149823ENST00000529180E9PKX7
ENSG00000149823ENST00000530673H0YCB7
ENSG00000149823ENST00000530773E9PRV0
ENSG00000149823ENST00000533487E9PKE5
ENSG00000149823ENST00000533827H0YDX9
ENSG00000149823ENST00000534124E9PQD5
ENSG00000149823ENST00000534557E9PJ36
ENSG00000149823ENST00000639871A0A1W2PQZ2

Expression (GTEx)

0
50
100
150
200
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
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Retrograde transport at the Trans-Golgi-NetworkREACTOMER-HSA-6811440

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
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
206859602010Ang2/fat-free is a conserved subunit of the Golgi-associated retrograde protein complex.36
239325922013Structural basis for the interaction of the Golgi-Associated Retrograde Protein Complex with the t-SNARE Syntaxin 6.5
312073182019VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.2

Citation

Dessen P

VPS51 (VPS51 subunit of GARP complex)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75639/vps51