ACER1

GENE INFORMATION

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Gene name

ACER1 (HGNC Symbol)

Synonyms

ASAH3

Description

Alkaline ceramidase 1 (HGNC Symbol)

Entrez gene summary

Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic signals and induce apoptosis, and the ceramide metabolites sphingosine and sphingosine-1-phosphate (S1P) are important bioregulatory molecules. Ceramide hydrolysis in the nucleated cell layers regulates keratinocyte proliferation and apoptosis in response to external stress. Ceramide hydrolysis also occurs at the stratum corneum, releasing free sphingoid base that functions as an endogenous antimicrobial agent. ACER1 is highly expressed in epidermis and catalyzes the hydrolysis of very long chain ceramides to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun et al., 2008 [PubMed 17713573]).[supplied by OMIM, Jul 2010]

Chromosome

19

Cytoband

p13.3

Chromosome location (bp)

6306142 - 6333629

Protein evidence

Evidence at transcript level (all genes)

Ensembl

ENSG00000167769 (version 78.38)

Entrez gene

125981

UniProt

Q8TDN7 (UniProt - Evidence at transcript level)

neXtProt

NX_Q8TDN7

Antibodypedia

ACER1 antibodies
 

PROTEIN VIEW

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ACER1-001
 
 
 
 
 

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)

ACER1-001 ENSP00000301452
ENST00000301452
Q8TDN7
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