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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACER1 Gene

protein-coding   GIFtS: 53
GCID: GC19M006261

alkaline ceramidase 1

(Previous name: N-acylsphingosine amidohydrolase (alkaline ceramidase)...)
(Previous symbol: ASAH3)
 Explore 2 diseases affiliated with
ACER1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ACER1    

Aliases
for ACER1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Alkaline Ceramidase 11 2     AlkCDase 12 3
ASAH31 2 3     N-Acylsphingosine Amidohydrolase 32 3
N-Acylsphingosine Amidohydrolase (Alkaline Ceramidase) 31 2     ALKCDase12
Acylsphingosine Deacylase 32 3     EC 3.5.1.233
Alkaline CDase 12 3     

External Ids:    HGNC: 183561   Entrez Gene: 1259812   Ensembl: ENSG000001677697   OMIM: 6134915   UniProtKB: Q8TDN73   

Export aliases for ACER1 gene to outside databases

Previous GC identifers: GC19M006259 GC19M006260 GC19M006065


Summaries
for ACER1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ACER1:
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)

UniProtKB/Swiss-Prot: ACER1_HUMAN, Q8TDN7
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)

Gene Wiki entry for ACER1


Genomic Views
for ACER1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011255.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACER1 gene promoter:
         NF-AT4   NF-AT2   Lmo2   NF-AT3   Pax-4a   NF-AT1   NF-AT   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACER1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACER1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACER1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

ACER1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACER1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M006261:  view genomic region     (about GC identifiers)

Start:
 6,306,510 bp from pter      End:
 6,333,640 bp from pter
Size:
 27,131 bases      Orientation:
 minus strand

Proteins
for ACER1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ACER1_HUMAN, Q8TDN7 (See protein sequence)
Recommended Name: Alkaline ceramidase 1  
Size: 264 amino acids; 31095 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)

Explore the universe of human proteins at neXtProt for ACER1: NX_Q8TDN7

ACER1 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_597999.1  
ENSEMBL proteins: 
 ENSP00000301452  
Reactome Protein details: Q8TDN7
Human Recombinant Protein Products: 
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OriGene Purified Protein: ACER1
OriGene Protein Over-expression Lysate: ACER1
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Novus Biologicals ACER1 Lysate
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Uscn Proteins for ACER1

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005783endoplasmic reticulum IDA17713573
GO:0005789endoplasmic reticulum membrane TAS--
GO:0005792microsome ----
GO:0016021integral to membrane IEA--


ACER1 for ontologies           About GeneDecksing



ACER1 Antibody Products: 
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Uscn Antibodies for ACER1
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Uscn ELISAs and CLIAs for ACER1

Protein Domains /
Families
for ACER1 gene

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
ACER1 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR008901 Ceramidase

Graphical View of Domain Structure for InterPro Entry Q8TDN7

ProtoNet protein and cluster: Q8TDN7

1 Blocks protein family: IPB008901 Alkaline phytoceramidase

UniProtKB/Swiss-Prot: ACER1_HUMAN, Q8TDN7
Similarity: Belongs to the alkaline ceramidase family


Function
for ACER1 gene

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section
Function Summary:

     UniProtKB/Swiss-Prot: ACER1_HUMAN, Q8TDN7
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)
Catalytic activity: N-acylsphingosine + H(2)O = a carboxylate + sphingosine
Enzyme regulation: Inhibited by sphingosine (By similarity)

Enzyme Number (IUBMB): EC 3.5.1.231

miRNA
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACER1
Search QIAGEN for miScript miRNA Assays for microRNAs that regulate ACER1
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:    		Browse for Gene Knock-down Tools from EMD Millipore
OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACER1 (see all 4)
OriGene shRNA RFP: ACER1
OriGene siRNA: ACER1
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACER1

Gene Editing
Products:		DNA2.0 Custom Protein Engineering Service for ACER1

Clone
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OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACER1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACER1
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACER1 

Cell Line
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Search LifeMap BioReagents cell lines for ACER1

In Situ Assay
Products:   
 		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACER1

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0017040ceramidase activity IDA17713573
GO:0071633dihydroceramidase activity IDA--


ACER1 for ontologies           About GeneDecksing



Pathways & Interactions
for ACER1 gene

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways  About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1Sphingolipid metabolism
Sphingolipid metabolism1.00
Sphingolipid de novo biosynthesis0.46
Sphingolipid metabolism0.54
2Metabolism
Metabolism1.00
Metabolism of lipids and lipoproteins0.34
Metabolic pathways0.38
3sphingosine and sphingosine-1-phosphate metabolism
sphingosine and sphingosine-1-phosphate metabolism1.00

Pathway sources
See GeneCards unified pathways
Show all pathways


1 BioSystems Pathway for ACER1 
    sphingosine and sphingosine-1-phosphate metabolism

4        Reactome Pathways for ACER1
    Sphingolipid metabolism
Metabolism
Metabolism of lipids and lipoproteins
Sphingolipid de novo biosynthesis


2         Kegg Pathways  (Kegg details for ACER1):
    Sphingolipid metabolism
Metabolic pathways


ACER1 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACER1

STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

5/21 Interacting proteins for ACER1 (ENSP000003014524) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
InteractantInteraction Details
GeneCardExternal ID(s)
CERKENSP000002162644STRING: ENSP00000216264
DEGS1ENSP000003164764STRING: ENSP00000316476
DEGS2ENSP000003071264STRING: ENSP00000307126
ENPP7ENSP000003326564STRING: ENSP00000332656
GBAENSP000003145084STRING: ENSP00000314508
About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006644phospholipid metabolic process TAS--
GO:0006665sphingolipid metabolic process TAS--
GO:0008544epidermis development IEP16477081
GO:0010446response to alkalinity IDA17713573
GO:0019216regulation of lipid metabolic process IEA--


ACER1 for ontologies           About GeneDecksing



Drugs & Compounds
for ACER1 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ACER1

10/120 HMDB Compounds for ACER1 (see all 120)    About this table
CompoundSynonyms CAS #PubMed Ids
3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--
3-O-Sulfogalactosylceramide (d18:1/26:1(17Z))Sulfatide (d18:1/26:1(17Z)) (see all 13)928346-40-1--
Search CenterWatch for drugs/clinical trials and news about ACER1 

Transcripts
for ACER1 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section
REFSEQ mRNAs for ACER1 gene: 
NM_133492.2  

Unigene Cluster for ACER1:

Alkaline ceramidase 1
Hs.352609  [show with all ESTs]
Unigene Representative Sequence: NM_133492
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000301452(uc002mel.2)

miRNA
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Search QIAGEN for miScript miRNA Assays for microRNAs that regulate ACER1
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:     		Browse for Gene Knock-down Tools from EMD Millipore
OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACER1 (see all 4)
OriGene shRNA RFP: ACER1
OriGene siRNA: ACER1
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACER1
Clone
Products:     		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACER1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACER1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
GenScript: all cDNA clones in your preferred vector: ACER1 (NM_133492)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACER1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACER1 
Primer
Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ACER1
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACER1
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACER1

Additional cDNA sequence: 

AF347024.1 BC112122.1 BC112124.1 

1 DOTS entry:

DT.91869736 

3 AceView cDNA sequences:

AF347024 NM_133492 BG698821 

GeneLoc Exon Structure


Expression
for ACER1 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ACER1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCTTGGTGG

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)
About this image

ACER1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
2 LifeMap In Vivo Development Anatomical Compartments/Cells 
Tissue Anatomical Compartment CellCategory (developmental path)
Skeletal MuscleHyoid Arch MusclesMyoblastsSkeletal Muscle
Skeletal MuscleMandibular Arch MusclesMyoblastsSkeletal Muscle
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization

See ACER1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACER1

SOURCE GeneReport for Unigene cluster: Hs.352609

UniProtKB/Swiss-Prot: ACER1_HUMAN, Q8TDN7
Tissue specificity: Mainly expressed in epidermis

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In Situ
Assay Products: 
 		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACER1

Orthologs
for ACER1 gene

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section
This gene was present in the common ancestor of eukaryotes.

Orthologs for ACER1 gene from 6/13 species (see all 13)    About this table
Organism Taxonomic
classification		 Gene Description Human
Similarity		 Orthology
Type		 Details
mouse
(Mus musculus)		 Mammalia Acer11 , 5 alkaline ceramidase 11, 5 80.93(n)1
79.55(a)1		   17 (29.59 cM)5
1711681  NM_175731.41  NP_783858.11 
 569534905 
chicken
(Gallus gallus)		 Aves ACER11 alkaline ceramidase 1 60.46(n)
47.53(a)		   420088  XM_418208.3  XP_418208.2 
zebrafish
(Danio rerio)		 Actinopterygii Dr.251182 Transcribed sequence with weak similarity to protein more 77.51(n)    BI887188.1 
worm
(Caenorhabditis elegans)		 Secernentea W02F12.26
 Alkaline ceramidase
 26(a)
 1 ↔ 1
 V(6695199-6697635)
thale cress
(Arabidopsis thaliana)		 eudicotyledons ATCES16
 dihydroceramidase
 21(a)
 1 → many
 4(11797567-11799856)
rice
(Oryza sativa)		 Liliopsida --
 alkaline phytoceramidase, putative, expressed
 21(a)
 1 → many
 3(28008018-28011928)


ENSEMBL Gene Tree for ACER1 (if available)
TreeFam Gene Tree for ACER1 (if available) 

Paralogs
for ACER1 gene

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for ACER1 gene
ACER22  ACER32  
1 SIMAP similar gene for ACER1 using alignment to 1 protein entry:     ACER1_HUMAN:
ACER2

ACER1 for paralogs           About GeneDecksing



Genomic Variants
for ACER1 gene

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/656 NCBI SNPs in ACER1 are shown (see all 656)     About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance		Chr 19 posSequence#AA
Chg		TypeMore#Allele
freq		PopTotal
sample		More
----------
rs1381714861,2
C,Fother6333510(+) GGAAGC/G/TTGCTC 3 N T S mis12NA EU 4901
rs1919947581,2
--6306028(+) AGTGAC/GCACCA 1 -- ds50010--------
rs1426270551,2
--6306096(+) TCTTGC/TTGCCC 1 -- ds50010--------
rs1509971681,2
--6306215(+) CACCAC/TGCCCG 1 -- ds50010--------
rs1838820911,2
--6306220(+) CGCCCA/GGCTAA 1 -- ds50010--------
rs1884746471,2
--6306260(+) TGCCAC/TGTTGG 1 -- ds50010--------
rs1930462651,2
--6306351(+) ACCGTG/TCCCAG 1 -- ds50010--------
rs1842853141,2
--6306385(+) CACATC/TCTTCA 1 -- ds50010--------
rs803018181,2
F,--6306508(+) GATGCA/TCGAGA 1 -- ds50011Minor allele frequency- T:0.05NA 120
rs1871054761,2
--6306635(+) ACGAGA/TGTCCC 1 -- ut310--------

HapMap Linkage Disequilibrium report for ACER1 (6306510 - 6333640 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ACER1
     1 CNV: 102779

SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ACER1
DNA2.0 Custom Variant and Variant Library Synthesis for ACER1

Disorders / Diseases
for ACER1 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
ACER1 for disorders           About GeneDecksing

OMIM gene information: 613491    OMIM disorders: --

2 diseases for ACER1:    About MalaCards
farber lipogranulomatosis    lipogranulomatosis

1 disease from the University of Copenhagen DISEASES database for ACER1:
Farber lipogranulomatosis

Export disorders for ACER1 gene to outside databases

Publications
for ACER1 gene

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for ACER1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with ACER1)		    Utopia: connect your pdf to the dynamic
world of online information

  1. Cloning and characterization of a mouse endoplasmic reticulum alkaline ceramidase: an enzyme that preferentially regulates metabolism of very long chain ceramides. (PubMed id 12783875)1, 2, 3 Mao C.... Obeid L.M. (2003)
  2. Differentiation-associated expression of ceramidase isoforms in cultured keratinocytes and epidermis. (PubMed id 16477081)1, 2 Houben E.... Uchida Y. (2006)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  4. Upregulation of the human alkaline ceramidase 1 and acid ceramidase mediates calcium-induced differentiation of epidermal keratinocytes. (PubMed id 17713573)1 Sun W....Mao C. (2008)
  5. Large-scale identification of human genes implicated in epidermal barrier function. (PubMed id 17562024)1 Toulza E.... Guerrin M. (2007)
  6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
  7. [Molecular evolution of neutral ceramidase: signalling molecule and virulence factor] (PubMed id 11915342)1 Ito M....Mori K. (2002)
  8. Ceramidases: regulators of cellular responses mediated by ceramide, sphingosine, and sphingosine-1-phosphate. (PubMed id 18619555)9 Mao C. and Obeid L.M. (2008)

External Searches for ACER1 gene

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Genome Databases showing ACER1 gene

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 125981 HGNC: 18356 AceView: ASAH3 Ensembl:ENSG00000167769 euGenes: HUgn125981
ECgene: ACER1 Kegg: 125981 H-InvDB: ACER1

Other Databases showing ACER1 gene

(According to HUGE)
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Specialized Databases showing ACER1 gene

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for ACER1 Pharmacogenomics, SNPs, Pathways

Intellectual Property
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