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Aliases for ACER1 Gene

Aliases for ACER1 Gene

  • Alkaline Ceramidase 1 2 3
  • 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
  • EC 3.5.1.23 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 lipogranulomatosis. Among its related pathways are Sphingolipid metabolism and Sphingolipid metabolism. GO annotations related to this gene include ceramidase activity and dihydroceramidase activity. An important paralog of this gene is ACER2.

UniProtKB/Swiss-Prot for ACER1 Gene

  • Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid at an optimal pH of 8.0. Has a highly restricted substrate specificity for the natural stereoisomer of ceramide with D-erythro-sphingosine but not D-ribo-phytosphingosine or D-erythro-dihydrosphingosine as a backbone. May have a role in regulating the levels of bioactive lipids ceramide and sphingosine 1-phosphate, as well as complex sphingolipids (By similarity).

Gene Wiki entry for ACER1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACER1 Gene

Genomics for ACER1 Gene

Regulatory Elements for ACER1 Gene

Genomic Location for ACER1 Gene

Start:
6,306,142 bp from pter
End:
6,333,629 bp from pter
Size:
27,488 bases
Orientation:
Minus strand

Genomic View for ACER1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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
    Secondary Accessions:

    Protein attributes for ACER1 Gene

    Size:
    264 amino acids
    Molecular mass:
    31095 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ACER1 Gene

Proteomics data for ACER1 Gene at MOPED

Post-translational modifications for ACER1 Gene

No Post-translational modifications

Other Protein References for ACER1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ACER1 Gene

Domains for ACER1 Gene

Gene Families for ACER1 Gene

HGNC:
  • ACER :Alkaline ceramidase

Protein Domains for ACER1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ACER1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TDN7

UniProtKB/Swiss-Prot:

ACER1_HUMAN :
  • Q8TDN7
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 CatalyticActivity: N-acylsphingosine + H(2)O = a carboxylate + sphingosine
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by sphingosine.
UniProtKB/Swiss-Prot Function: Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid at an optimal pH of 8.0. Has a highly restricted substrate specificity for the natural stereoisomer of ceramide with D-erythro-sphingosine but not D-ribo-phytosphingosine or D-erythro-dihydrosphingosine as a backbone. May have a role in regulating the levels of bioactive lipids ceramide and sphingosine 1-phosphate, as well as complex sphingolipids (By similarity).

Enzyme Numbers (IUBMB) for ACER1 Gene

Gene Ontology (GO) - Molecular Function for ACER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides --
GO:0017040 ceramidase activity IDA 17713573
GO:0071633 dihydroceramidase activity IDA 20628055
genes like me logo Genes that share ontologies with ACER1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACER1

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for ACER1 Gene COMPARTMENTS Subcellular localization image for ACER1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3

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:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ACER1: view

Pathways for ACER1 Gene

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

Pathways by source for ACER1 Gene

Interacting Proteins for ACER1 Gene

Gene Ontology (GO) - Biological Process for ACER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006665 sphingolipid metabolic process TAS --
GO:0006672 ceramide metabolic process --
GO:0008544 epidermis development IEP 16477081
GO:0010446 response to alkaline pH IDA 17713573
GO:0019216 regulation of lipid metabolic process IEA --
genes like me logo Genes that share ontologies with ACER1: view

Compounds for ACER1 Gene

(120) HMDB Compounds for ACER1 Gene

Compound Synonyms Cas Number PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • Sulfatide (d18:1/18:1(9Z))
Not Available
genes like me logo Genes that share compounds with ACER1: view

Transcripts for ACER1 Gene

mRNA/cDNA for ACER1 Gene

(3) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(2) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACER1 Gene

Alkaline ceramidase 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACER1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ACER1

Flow Cytometry 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
ECgene alternative splicing isoforms for
ACER1

Expression for ACER1 Gene

mRNA expression in normal human tissues 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) (25.5) and Skin - Not Sun Exposed (Suprapubic) (19.9).

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.
genes like me logo Genes that share expressions with ACER1: view

In Situ Assay Products

No data available for Protein expression 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 35
  • 98.61 (n)
  • 98.48 (a)
ACER1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACER1 35
  • 84.62 (n)
  • 82.05 (a)
ACER1 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACER1 35
  • 87.96 (n)
  • 85.55 (a)
ACER1 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acer1 35
  • 80.93 (n)
  • 79.55 (a)
Acer1 16
Acer1 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACER1 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACER1 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acer1 35
  • 81.57 (n)
  • 79.17 (a)
chicken
(Gallus gallus)
Aves ACER1 35
  • 60.46 (n)
  • 47.53 (a)
ACER1 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acer1 35
  • 60.31 (n)
  • 58.4 (a)
zebrafish
(Danio rerio)
Actinopterygii acer1 35
  • 61.22 (n)
  • 49.05 (a)
acer1 36
  • 45 (a)
OneToOne
Dr.25118 35
fruit fly
(Drosophila melanogaster)
Insecta bwa 36
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W02F12.2 36
  • 25 (a)
OneToMany
Species with no ortholog for ACER1:
  • 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)

Paralogs for ACER1 Gene

Paralogs for ACER1 Gene

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

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

Variants for ACER1 Gene

Sequence variations from dbSNP and Humsavar for ACER1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs872664 -- 6,311,807(-) CTGGC(A/G)TTCCT intron-variant
rs1982082 -- 6,322,431(-) AAGAA(A/G)AAGAT intron-variant
rs2335192 -- 6,333,279(-) TGCCA(A/G)GCTCT intron-variant
rs4608434 -- 6,318,956(+) GGTTT(C/G)TCTTC intron-variant
rs4807863 -- 6,306,960(+) TCATG(A/G)CTCTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv910911 CNV Loss 21882294
nsv2397 CNV Insertion 18451855
nsv2399 CNV Loss 18451855
nsv513511 CNV Insertion 21212237
esv2629784 CNV Deletion 19546169
dgv3698n71 CNV Loss 21882294
nsv910916 CNV Loss 21882294

Relevant External Links for ACER1 Gene

HapMap Linkage Disequilibrium report
ACER1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACER1 Gene

Disorders for ACER1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for ACER1 Gene including...

Search for ACER1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for ACER1 Gene

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

No data available for UniProtKB/Swiss-Prot 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 L.M. (J. Biol. Chem. 2003) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Differentiation-associated expression of ceramidase isoforms in cultured keratinocytes and epidermis. (PMID: 16477081) Houben E. … Uchida Y. (J. Lipid Res. 2006) 3 4
  4. Large-scale identification of human genes implicated in epidermal barrier function. (PMID: 17562024) Toulza E. … Guerrin M. (Genome Biol. 2007) 3
  5. Upregulation of the human alkaline ceramidase 1 and acid ceramidase mediates calcium-induced differentiation of epidermal keratinocytes. (PMID: 17713573) Sun W. … Mao C. (J. Invest. Dermatol. 2008) 3

Products for ACER1 Gene

Sources for ACER1 Gene

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