ASAH1

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 (Chromosome progress)

Cytoband

p22

Chromosome location (bp)

17913934 - 17942494

Ensembl

ENSG00000104763 (version 73.37)

Entrez gene

427

UniProt

Q13510 (UniProt - Evidence at protein level)

neXtProt

NX_Q13510

Antibodypedia

ASAH1 antibodies
 

PROTEIN VIEW

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ASAH1-001
 
ASAH1-002
 
ASAH1-003
 
ASAH1-004
 
ASAH1-201
 
 
 
 
 

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
ASAH1-201 ENSP00000394125
ENST00000417108
E7ERV9
Show all »
Show » Show » 305 34.6 No 0