Homo sapiens Gene: ACER1
Summary
InnateDB Gene IDBG-21273.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ACER1
Gene Name alkaline ceramidase 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000167769
Encoded Proteins
alkaline ceramidase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:6306142-6333629
Strand Reverse strand
Band p13.3
Transcripts
ENST00000301452 ENSP00000301452
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides
GO:0017040 ceramidase activity
GO:0071633 dihydroceramidase activity
Biological Process
GO:0006665 sphingolipid metabolic process
GO:0006672 ceramide metabolic process
GO:0008544 epidermis development
GO:0010446 response to alkalinity
GO:0019216 regulation of lipid metabolic process
GO:0030148 sphingolipid biosynthetic process
GO:0030154 cell differentiation
GO:0030216 keratinocyte differentiation
GO:0044281 small molecule metabolic process
GO:0046512 sphingosine biosynthetic process
GO:0046514 ceramide catabolic process
GO:0071277 cellular response to calcium ion
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Sphingolipid de novo biosynthesis pathway
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Metabolism pathway
KEGG
Sphingolipid metabolism pathway
INOH
PID NCI
Cross-References
SwissProt Q8TDN7
TrEMBL
UniProt Splice Variant
Entrez Gene 125981
UniGene Hs.352609
RefSeq NM_133492
HUGO HGNC:18356
OMIM 613491
CCDS CCDS12161
HPRD
IMGT
EMBL AF347024 BC112122 BC112124
GenPept AAI12123 AAI12125 AAL83822
RNA Seq Atlas 125981