ASPA

GENERAL INFORMATION

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Gene name

ASPA

Gene description

Aspartoacylase

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (kidney)
GTEx:Tissue enhanced (hippocampus)

Protein evidence

Evidence at protein level

Protein localization

Distinct cytoplasmic expression in selected tissues, most abundant in renal tubules and CNS.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA022142 , HPA022145
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (kidney)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (hippocampus)

Organ

Expression



GENE INFORMATION

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Gene name

ASPA (HGNC Symbol)

Synonyms

ACY2, ASP

Description

Aspartoacylase (HGNC Symbol)

Entrez gene summary

This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

Chromosome

17

Cytoband

p13.2

Chromosome location (bp)

3472374 - 3503419

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000108381 (version 78.38)

Entrez gene

443

UniProt

P45381 (UniProt - Evidence at protein level)

neXtProt

NX_P45381

Antibodypedia

ASPA antibodies


PROTEIN BROWSER

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ENST00000263080
 
ENST00000456349
 
ENST00000577034
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ASPA-001 ENSP00000263080
ENST00000263080
P45381
Show all »
Show » Show » 313 35.7 No 0
ASPA-002 ENSP00000409976
ENST00000456349
P45381
Show all »
Show » Show » 313 35.7 No 0
ASPA-003 ENSP00000458324
ENST00000577034
I3L0T3
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Show » Show » 79 8.9 No 0