ASPRV1 (aspartic peptidase retroviral like 1)

2007-07-01  

Identity

HGNC
ASPRV1
LOCATION
2p13.3
LOCUSID
151516
ALIAS
ADLI,MUNO,SASP,SASPase,Taps

Other Information

Locus ID:

NCBI: 151516
MIM: 611765
HGNC: 26321
Ensembl: ENSG00000244617

Variants:

dbSNP: 151516
ClinVar: 151516
TCGA: ENSG00000244617
COSMIC: ASPRV1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000244617ENST00000320256Q53RT3

Expression (GTEx)

0
100
200
300
400
500
600
700
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
215421322011SASPase regulates stratum corneum hydration through profilaggrin-to-filaggrin processing.27
160980382005Identification and characterization of a novel retroviral-like aspartic protease specifically expressed in human epidermis.18
165655082006A novel aspartic proteinase-like gene expressed in stratified epithelia and squamous cell carcinoma of the skin.5
223183842012Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin.5

Citation

Dessen P

ASPRV1 (aspartic peptidase retroviral like 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-07-01

Online version: http://atlasgeneticsoncology.org/gene/47620/asprv1-(aspartic-peptidase-retroviral-like-1)