ASPA (aspartoacylase)

2016-10-01  

Identity

HGNC
ASPA
LOCATION
17p13.2
LOCUSID
443
ALIAS
ACY2,ASP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 443
MIM: 608034
HGNC: 756
Ensembl: ENSG00000108381

Variants:

dbSNP: 443
ClinVar: 443
TCGA: ENSG00000108381
COSMIC: ASPA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108381ENST00000263080P45381
ENSG00000108381ENST00000263080Q6FH48
ENSG00000108381ENST00000456349P45381
ENSG00000108381ENST00000456349Q6FH48
ENSG00000108381ENST00000571278I3L4M0
ENSG00000108381ENST00000577034I3L0T3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Histidine metabolismKEGGko00340
Histidine metabolismKEGGhsa00340
Alanine, aspartate and glutamate metabolismKEGGko00250
Alanine, aspartate and glutamate metabolismKEGGhsa00250
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Amino acid synthesis and interconversion (transamination)REACTOMER-HSA-70614

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
373917092023Aspartoacylase promotes the process of tumour development and is associated with immune infiltrates in gastric cancer.0
373917092023Aspartoacylase promotes the process of tumour development and is associated with immune infiltrates in gastric cancer.0
339147342021Mapping the degradation pathway of a disease-linked aspartoacylase variant.8
339147342021Mapping the degradation pathway of a disease-linked aspartoacylase variant.8
304312652019Allosteric Control of N-Acetyl-Aspartate Hydrolysis by the Y231C and F295S Mutants of Human Aspartoacylase.1
308342722019First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan.6
304312652019Allosteric Control of N-Acetyl-Aspartate Hydrolysis by the Y231C and F295S Mutants of Human Aspartoacylase.1
308342722019First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan.6
246321422014Reexamination of aspartoacylase: is this human enzyme really a glycoprotein?1
250038212014Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective.0
246321422014Reexamination of aspartoacylase: is this human enzyme really a glycoprotein?1
250038212014Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective.0
228789302013Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.2
240362232013New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.0
228789302013Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.2

Citation

Dessen P

ASPA (aspartoacylase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56197