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Aliases for ACER1 Gene

Aliases for ACER1 Gene

  • Alkaline Ceramidase 1 2 3 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
  • 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 Corneal Dystrophy, Posterior Amorphous. Among its related pathways are Sphingolipid metabolism and Sphingolipid signaling pathway. 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 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 CIViC summary , 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

Chromosome:
19
Start:
6,306,142 bp from pter
End:
6,353,444 bp from pter
Size:
47,303 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
    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

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 :
  • 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 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:0016787 hydrolase activity IEA --
GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IEA --
GO:0017040 ceramidase activity TAS --
GO:0071633 dihydroceramidase activity IDA 20628055
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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

Pathways & Interactions for ACER1 Gene

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

Interacting Proteins for ACER1 Gene

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 IEA,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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
MYRISTIC ACID Experimental Pharma 0
Palmitic Acid Experimental Pharma Full agonist, Agonist 22
Sphingosine Experimental Pharma 0
Stearic acid Experimental Pharma 0

(86) 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

Transcripts for ACER1 Gene

mRNA/cDNA for ACER1 Gene

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

Unigene Clusters for ACER1 Gene

Alkaline ceramidase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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).

NURSA nuclear receptor signaling pathways regulating expression of ACER1 Gene:

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

Primer Products

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 35 34
  • 98.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACER1 35 34
  • 87.96 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACER1 35 34
  • 84.62 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acer1 34
  • 81.57 (n)
mouse
(Mus musculus)
Mammalia Acer1 16 35 34
  • 80.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACER1 35
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACER1 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACER1 35 34
  • 60.46 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acer1 34
  • 60.31 (n)
zebrafish
(Danio rerio)
Actinopterygii acer1 35 34
  • 61.22 (n)
OneToOne
Dr.25118 34
fruit fly
(Drosophila melanogaster)
Insecta bwa 35
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W02F12.2 35
  • 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)

Paralogs for ACER1 Gene

Paralogs for ACER1 Gene

(1) 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
rs398123035 Pathogenic 6,361,944(+) CGGTG(A/G)GCGCC intron-variant, upstream-variant-2KB
rs75589928 Benign 6,361,570(+) GTGCG(A/G)AGGGA upstream-variant-2KB, utr-variant-5-prime
rs1000144012 -- 6,321,140(+) CTTTC(-/T)TTTTT intron-variant
rs1000180285 -- 6,353,512(+) TATTT(A/C)AGATC intron-variant
rs1000194419 -- 6,349,449(+) GGAAA(C/G)AAGGA intron-variant

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)

Relevant External Links for ACER1 Gene

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

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

Disorders for ACER1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACER1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
corneal dystrophy, posterior amorphous
  • posterior amorphous corneal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search ACER1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ACER1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 L.M. (J. Biol. Chem. 2003) 2 3 4 64
  2. Differentiation-associated expression of ceramidase isoforms in cultured keratinocytes and epidermis. (PMID: 16477081) Houben E. … Uchida Y. (J. Lipid Res. 2006) 3 4 64
  3. 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 64
  4. 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. (J. Biol. Chem. 2010) 3 64
  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 64

Products for ACER1 Gene

Sources for ACER1 Gene

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