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 bioregula... See more...

Aliases for ACER1 Gene

Aliases for ACER1 Gene

  • Alkaline Ceramidase 1 2 3 4 5
  • N-Acylsphingosine Amidohydrolase (Alkaline Ceramidase) 3 2 3
  • N-Acylsphingosine Amidohydrolase 3 3 4
  • Acylsphingosine Deacylase 3 3 4
  • Alkaline CDase 1 3 4
  • AlkCDase 1 3 4
  • ASAH3 3 4
  • CTB-180A7.3 3
  • EC 3.5.1.23 4
  • EC 3.5.1.- 4
  • ALKCDase1 3

External Ids for ACER1 Gene

Previous HGNC Symbols for ACER1 Gene

  • ASAH3

Previous GeneCards Identifiers for ACER1 Gene

  • GC19M006259
  • GC19M006260
  • GC19M006261
  • GC19M006065

Summaries for ACER1 Gene

Entrez Gene Summary for ACER1 Gene

  • 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]

GeneCards Summary for ACER1 Gene

ACER1 (Alkaline Ceramidase 1) is a Protein Coding gene. Diseases associated with ACER1 include Farber Lipogranulomatosis and Salt And Pepper Syndrome. Among its related pathways are Sphingolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides and dihydroceramidase activity. An important paralog of this gene is ACER2.

UniProtKB/Swiss-Prot Summary for ACER1 Gene

  • Endoplasmic reticulum ceramidase that catalyzes the hydrolysis of ceramides into sphingosine and free fatty acids at alkaline pH (PubMed:17713573, PubMed:20207939, PubMed:20628055). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:12783875). Exhibits a strong substrate specificity towards the natural stereoisomer of ceramides with D-erythro-sphingosine as a backbone and has a higher activity towards very long-chain unsaturated fatty acids like the C24:1-ceramide (PubMed:17713573, PubMed:20207939). May also hydrolyze dihydroceramides to produce dihydrosphingosine (PubMed:20207939, PubMed:20628055). ACER1 is a skin-specific ceramidase that regulates the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes and more generally plays an important role in skin homeostasis (PubMed:17713573).

Gene Wiki entry for ACER1 Gene

Additional gene information for ACER1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACER1 Gene

Genomics for ACER1 Gene

GeneHancer (GH) Regulatory Elements for ACER1 Gene

Promoters and enhancers for ACER1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J006360 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.4 -8.7 -8681 3 ZBTB40 ZNF217 EP300 NRF1 POLR2G PHF8 SIX5 PHB2 ZFX ZIC2 CLPP ENSG00000269802 NONHSAG024597.2 ACER1 SNRPEP4 ENSG00000267571 RPL36 GTF2F1 SLC25A41
GH19J006333 Promoter 0.6 EPDnew 500.4 +19.8 19831 0.1 DPF2 EGR1 SMARCE1 ACER1 CLPP ALKBH7 GTF2F1 FJ601684-212 piR-32214-334
GH19J006350 Enhancer 0.4 Ensembl 0.7 +2.6 2643 0.4 TCF12 SPI1 FOXA1 ZNF366 GTF2F1 ACER1 RF00017-2770 lnc-CLPP-1 ENSG00000269802
GH19J006340 Enhancer 0.5 Ensembl 0.4 +12.7 12743 0.6 CTCF TCF12 ZFHX2 BATF ZBTB7A EGR1 RAD21 ZNF366 EGR2 ETV6 GTF2F1 LOC390877 ACSBG2 FJ601684-212 lnc-CLPP-1 ACER1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACER1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACER1

Top Transcription factor binding sites by QIAGEN in the ACER1 gene promoter:
  • Lmo2
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Pax-4a

Genomic Locations for ACER1 Gene

Genomic Locations for ACER1 Gene
chr19:6,306,142-6,353,444
(GRCh38/hg38)
Size:
47,303 bases
Orientation:
Minus strand
chr19:6,306,153-6,333,640
(GRCh37/hg19)
Size:
27,488 bases
Orientation:
Minus strand

Genomic View for ACER1 Gene

Genes around ACER1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACER1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACER1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACER1 Gene

Proteins for ACER1 Gene

  • Protein details for ACER1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDN7-ACER1_HUMAN
    Recommended name:
    Alkaline ceramidase 1
    Protein Accession:
    Q8TDN7

    Protein attributes for ACER1 Gene

    Size:
    264 amino acids
    Molecular mass:
    31095 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

neXtProt entry for ACER1 Gene

Post-translational modifications for ACER1 Gene

No Post-translational modifications

Other Protein References for ACER1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACER1 Gene

Domains & Families for ACER1 Gene

Gene Families for ACER1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for ACER1 Gene

Blocks:
  • Alkaline phytoceramidase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ACER1 Gene

GenScript: Design optimal peptide antigens:
  • N-acylsphingosine amidohydrolase 3 (ACER1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TDN7

UniProtKB/Swiss-Prot:

ACER1_HUMAN :
  • Belongs to the alkaline ceramidase family.
Family:
  • Belongs to the alkaline ceramidase family.
genes like me logo Genes that share domains with ACER1: view

Function for ACER1 Gene

Molecular function for ACER1 Gene

UniProtKB/Swiss-Prot Function:
Endoplasmic reticulum ceramidase that catalyzes the hydrolysis of ceramides into sphingosine and free fatty acids at alkaline pH (PubMed:17713573, PubMed:20207939, PubMed:20628055). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:12783875). Exhibits a strong substrate specificity towards the natural stereoisomer of ceramides with D-erythro-sphingosine as a backbone and has a higher activity towards very long-chain unsaturated fatty acids like the C24:1-ceramide (PubMed:17713573, PubMed:20207939). May also hydrolyze dihydroceramides to produce dihydrosphingosine (PubMed:20207939, PubMed:20628055). ACER1 is a skin-specific ceramidase that regulates the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes and more generally plays an important role in skin homeostasis (PubMed:17713573).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an N-acylsphing-4-enine + H2O = a fatty acid + sphing-4-enine; Xref=Rhea:RHEA:20856, ChEBI:CHEBI:15377, ChEBI:CHEBI:28868, ChEBI:CHEBI:52639, ChEBI:CHEBI:57756; EC=3.5.1.23; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:20857; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-(tetracosanoyl)-sphing-4-enine = sphing-4-enine + tetracosanoate; Xref=Rhea:RHEA:41283, ChEBI:CHEBI:15377, ChEBI:CHEBI:31014, ChEBI:CHEBI:57756, ChEBI:CHEBI:72965; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41284; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an N-acylsphinganine + H2O = a fatty acid + sphinganine; Xref=Rhea:RHEA:33551, ChEBI:CHEBI:15377, ChEBI:CHEBI:28868, ChEBI:CHEBI:31488, ChEBI:CHEBI:57817; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:33552; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-(9Z-octadecenoyl)-sphing-4-enine = (9Z)-octadecenoate + sphing-4-enine; Xref=Rhea:RHEA:41299, ChEBI:CHEBI:15377, ChEBI:CHEBI:30823, ChEBI:CHEBI:57756, ChEBI:CHEBI:77996; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41300; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-(15Z-tetracosenoyl)-sphing-4-enine = (15Z)-tetracosenoate + sphing-4-enine; Xref=Rhea:RHEA:41267, ChEBI:CHEBI:15377, ChEBI:CHEBI:32392, ChEBI:CHEBI:57756, ChEBI:CHEBI:74450; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41268; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by sphingosine (By similarity). Activity is Ca(2+)-dependent (PubMed:17713573).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 8.0. {ECO:0000269 PubMed:17713573};
UniProtKB/Swiss-Prot Induction:
Up-regulated by Ca(2+) (PubMed:17713573). Down-regulated by epidermal growth factor/EGF (PubMed:17713573).

Enzyme Numbers (IUBMB) for ACER1 Gene

Phenotypes From GWAS Catalog for ACER1 Gene

Gene Ontology (GO) - Molecular Function for ACER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IEA --
GO:0017040 N-acylsphingosine amidohydrolase activity TAS,IDA --
GO:0046872 metal ion binding IEA --
GO:0071633 dihydroceramidase activity IMP,IDA 20207939
genes like me logo Genes that share ontologies with ACER1: view
genes like me logo Genes that share phenotypes with ACER1: view

Animal Models for ACER1 Gene

MGI Knock Outs for ACER1:
  • Acer1 Acer1<tm1a(EUCOMM)Wtsi>
  • Acer1 Acer1<tm1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACER1 Gene

Localization for ACER1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACER1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACER1 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
lysosome 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ACER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 17713573
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ACER1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACER1 Gene

Pathways & Interactions for ACER1 Gene

genes like me logo Genes that share pathways with ACER1: view

Pathways by source for ACER1 Gene

1 Qiagen pathway for ACER1 Gene
  • S-1P Stimulated Signaling

UniProtKB/Swiss-Prot Q8TDN7-ACER1_HUMAN

  • Pathway: Lipid metabolism; sphingolipid metabolism.
;

Gene Ontology (GO) - Biological Process for ACER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process ISS --
GO:0006672 ceramide metabolic process IEA --
GO:0008544 epidermis development IEP 16477081
GO:0010446 response to alkaline pH IDA 17713573
genes like me logo Genes that share ontologies with ACER1: view

No data available for SIGNOR curated interactions for ACER1 Gene

Drugs & Compounds for ACER1 Gene

(10) Drugs for ACER1 Gene - From: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Palmitic Acid Approved Pharma Full agonist, Agonist 25
Stearic acid Approved, Experimental Pharma 0
Water Approved Pharma 0
arachidonic acid Experimental Pharma Activator, Agonist, Inhibitor, Activation, Potentiation 39
Myristic acid Experimental Pharma 0

(113) Additional Compounds for ACER1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate

(1) Tocris Compounds for ACER1 Gene

Compound Action Cas Number
Ceranib 1 Ceramidase inhibitor; antiproliferative 328076-61-5

(1) ApexBio Compounds for ACER1 Gene

Compound Action Cas Number
Ceranib 1 328076-61-5
genes like me logo Genes that share compounds with ACER1: view

Drug Products

Transcripts for ACER1 Gene

mRNA/cDNA for ACER1 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACER1 Gene

No ASD Table

Relevant External Links for ACER1 Gene

GeneLoc Exon Structure for
ACER1

Expression for ACER1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACER1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACER1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x25.5) and Skin - Not Sun Exposed (Suprapubic) (x19.9).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACER1

SOURCE GeneReport for Unigene cluster for ACER1 Gene:

Hs.352609

mRNA Expression by UniProt/SwissProt for ACER1 Gene:

Q8TDN7-ACER1_HUMAN
Tissue specificity: Mainly expressed in epidermis.

Evidence on tissue expression from TISSUES for ACER1 Gene

  • Skin(2.2)
genes like me logo Genes that share expression patterns with ACER1: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACER1 Gene

Orthologs for ACER1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACER1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACER1 31 30
  • 98.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACER1 31 30
  • 87.96 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACER1 31 30
  • 84.62 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acer1 30
  • 81.57 (n)
mouse
(Mus musculus)
Mammalia Acer1 17 31 30
  • 80.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACER1 31
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACER1 31
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACER1 31 30
  • 60.46 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acer1 30
  • 60.31 (n)
zebrafish
(Danio rerio)
Actinopterygii acer1 31 30
  • 61.22 (n)
OneToOne
Dr.25118 30
fruit fly
(Drosophila melanogaster)
Insecta bwa 31
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W02F12.2 31
  • 25 (a)
OneToMany
Species where no ortholog for ACER1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACER1 Gene

ENSEMBL:
Gene Tree for ACER1 (if available)
TreeFam:
Gene Tree for ACER1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACER1: view image

Paralogs for ACER1 Gene

Paralogs for ACER1 Gene

(1) SIMAP similar genes for ACER1 Gene using alignment to 1 proteins:

  • ACER1_HUMAN
genes like me logo Genes that share paralogs with ACER1: view

Variants for ACER1 Gene

Additional dbSNP identifiers (rs#s) for ACER1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACER1 Gene

Variant ID Type Subtype PubMed ID
esv2629784 CNV deletion 19546169
esv3643551 CNV loss 21293372
nsv1055913 CNV gain 25217958
nsv1138662 CNV deletion 24896259
nsv1146210 OTHER inversion 26484159
nsv2397 CNV insertion 18451855
nsv2399 CNV deletion 18451855
nsv513511 CNV insertion 21212237

Variation tolerance for ACER1 Gene

Residual Variation Intolerance Score: 58.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.46; 77.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACER1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACER1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACER1 Gene

Disorders for ACER1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ACER1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
farber lipogranulomatosis
  • frbrl
salt and pepper syndrome
  • salt & pepper syndrome
intracranial berry aneurysm
  • aneurysm, intracranial berry, 1
- elite association - COSMIC cancer census association via MalaCards
Search ACER1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACER1

genes like me logo Genes that share disorders with ACER1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACER1 Gene

Publications for ACER1 Gene

  1. Cloning and characterization of a mouse endoplasmic reticulum alkaline ceramidase: an enzyme that preferentially regulates metabolism of very long chain ceramides. (PMID: 12783875) Mao C … Obeid LM (The Journal of biological chemistry 2003) 2 3 4 54
  2. Role of alkaline ceramidases in the generation of sphingosine and its phosphate in erythrocytes. (PMID: 20207939) Xu R … Mao C (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2010) 3 4 54
  3. Alkaline ceramidase 2 (ACER2) and its product dihydrosphingosine mediate the cytotoxicity of N-(4-hydroxyphenyl)retinamide in tumor cells. (PMID: 20628055) Mao Z … Mao C (The Journal of biological chemistry 2010) 3 4 54
  4. Upregulation of the human alkaline ceramidase 1 and acid ceramidase mediates calcium-induced differentiation of epidermal keratinocytes. (PMID: 17713573) Sun W … Mao C (The Journal of investigative dermatology 2008) 3 4 54
  5. Differentiation-associated expression of ceramidase isoforms in cultured keratinocytes and epidermis. (PMID: 16477081) Houben E … Uchida Y (Journal of lipid research 2006) 3 4 54

Products for ACER1 Gene

Sources for ACER1 Gene