ASAH1

GENERAL INFORMATION

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Gene name

ASAH1

Gene description

N-acylsphingosine amidohydrolase (acid ceramidase) 1

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

High expression in lysosomes.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 1 antibody.
HPA005468
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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

Epididymis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

ASAH1 (HGNC Symbol)

Synonyms

AC, ASAH, FLJ21558, PHP32

Description

N-acylsphingosine amidohydrolase (acid ceramidase) 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Chromosome

8

Cytoband

p22

Chromosome location (bp)

18056425 - 18084985

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000104763 (version 78.38)

Entrez gene

427

UniProt

Q13510 (UniProt - Evidence at protein level)

neXtProt

NX_Q13510

Antibodypedia

ASAH1 antibodies


PROTEIN BROWSER

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ENST00000262097
 
ENST00000314146
 
ENST00000381733
 
ENST00000520781
 
 
 
 


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)

ASAH1-001 ENSP00000262097
ENST00000262097
Q13510
Show all »
Show » Show » 395 44.7 Yes 0
ASAH1-002 ENSP00000371152
ENST00000381733
Q13510
Show all »
Show » Show » 411 46.5 No 0
ASAH1-003 ENSP00000326970
ENST00000314146
Q13510
Show all »
Show » Show » 389 44 No 0
ASAH1-004 ENSP00000427751
ENST00000520781
E7EMM4
Show all »
Show » Show » 370 41.8 Yes 0