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ACER1 (alkaline ceramidase 1)

Identity

Alias_namesASAH3
N-acylsphingosine amidohydrolase (alkaline ceramidase) 3
Other aliasALKCDase1
HGNC (Hugo) ACER1
LocusID (NCBI) 125981
Atlas_Id 60082
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 6306510 and ends at 6333640 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACER1 (19p13.3) / KMT2A (11q23.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(11;19)(q23;p13.3) KMT2A/ACER1
t(11;19)(q23;p13.3) KMT2A/ACER1


External links

Nomenclature
HGNC (Hugo)ACER1   18356
Cards
Entrez_Gene (NCBI)ACER1  125981  alkaline ceramidase 1
AliasesALKCDase1; ASAH3
GeneCards (Weizmann)ACER1
Ensembl hg19 (Hinxton)ENSG00000167769 [Gene_View]  chr19:6306510-6333640 [Contig_View]  ACER1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000167769 [Gene_View]  chr19:6306510-6333640 [Contig_View]  ACER1 [Vega]
ICGC DataPortalENSG00000167769
TCGA cBioPortalACER1
AceView (NCBI)ACER1
Genatlas (Paris)ACER1
WikiGenes125981
SOURCE (Princeton)ACER1
Genetics Home Reference (NIH)ACER1
Genomic and cartography
GoldenPath hg19 (UCSC)ACER1  -     chr19:6306510-6333640 -  19p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ACER1  -     19p13.3   [Description]    (hg38-Dec_2013)
EnsemblACER1 - 19p13.3 [CytoView hg19]  ACER1 - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIACER1 [Mapview hg19]  ACER1 [Mapview hg38]
OMIM613491   
Gene and transcription
Genbank (Entrez)AF347024 BC112122 BC112124 CU449837 HG510303
RefSeq transcript (Entrez)NM_133492
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011295 NW_004929412
Consensus coding sequences : CCDS (NCBI)ACER1
Cluster EST : UnigeneHs.352609 [ NCBI ]
CGAP (NCI)Hs.352609
Alternative Splicing GalleryENSG00000167769
Gene ExpressionACER1 [ NCBI-GEO ]   ACER1 [ EBI - ARRAY_EXPRESS ]   ACER1 [ SEEK ]   ACER1 [ MEM ]
Gene Expression Viewer (FireBrowse)ACER1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)125981
GTEX Portal (Tissue expression)ACER1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TDN7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TDN7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TDN7
Splice isoforms : SwissVarQ8TDN7
Catalytic activity : Enzyme3.5.1.23 [ Enzyme-Expasy ]   3.5.1.233.5.1.23 [ IntEnz-EBI ]   3.5.1.23 [ BRENDA ]   3.5.1.23 [ KEGG ]   
PhosPhoSitePlusQ8TDN7
Domains : Interpro (EBI)Ceramidase   
Domain families : Pfam (Sanger)Ceramidase (PF05875)   
Domain families : Pfam (NCBI)pfam05875   
Conserved Domain (NCBI)ACER1
DMDM Disease mutations125981
Blocks (Seattle)ACER1
SuperfamilyQ8TDN7
Human Protein AtlasENSG00000167769
Peptide AtlasQ8TDN7
HPRD12496
IPIIPI00152570   
Protein Interaction databases
DIP (DOE-UCLA)Q8TDN7
IntAct (EBI)Q8TDN7
FunCoupENSG00000167769
BioGRIDACER1
STRING (EMBL)ACER1
ZODIACACER1
Ontologies - Pathways
QuickGOQ8TDN7
Ontology : AmiGOendoplasmic reticulum  endoplasmic reticulum membrane  sphingolipid metabolic process  sphingolipid metabolic process  epidermis development  response to alkaline pH  integral component of membrane  ceramidase activity  regulation of lipid metabolic process  sphingolipid biosynthetic process  sphingolipid biosynthetic process  cell differentiation  keratinocyte differentiation  small molecule metabolic process  sphingosine biosynthetic process  ceramide catabolic process  cellular response to calcium ion  dihydroceramidase activity  
Ontology : EGO-EBIendoplasmic reticulum  endoplasmic reticulum membrane  sphingolipid metabolic process  sphingolipid metabolic process  epidermis development  response to alkaline pH  integral component of membrane  ceramidase activity  regulation of lipid metabolic process  sphingolipid biosynthetic process  sphingolipid biosynthetic process  cell differentiation  keratinocyte differentiation  small molecule metabolic process  sphingosine biosynthetic process  ceramide catabolic process  cellular response to calcium ion  dihydroceramidase activity  
Pathways : KEGGSphingolipid metabolism   
NDEx NetworkACER1
Atlas of Cancer Signalling NetworkACER1
Wikipedia pathwaysACER1
Orthology - Evolution
OrthoDB125981
GeneTree (enSembl)ENSG00000167769
Phylogenetic Trees/Animal Genes : TreeFamACER1
HOVERGENQ8TDN7
HOGENOMQ8TDN7
Homologs : HomoloGeneACER1
Homology/Alignments : Family Browser (UCSC)ACER1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACER1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACER1
dbVarACER1
ClinVarACER1
1000_GenomesACER1 
Exome Variant ServerACER1
ExAC (Exome Aggregation Consortium)ACER1 (select the gene name)
Genetic variants : HAPMAP125981
Genomic Variants (DGV)ACER1 [DGVbeta]
DECIPHER (Syndromes)19:6306510-6333640  ENSG00000167769
CONAN: Copy Number AnalysisACER1 
Mutations
ICGC Data PortalACER1 
TCGA Data PortalACER1 
Broad Tumor PortalACER1
OASIS PortalACER1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACER1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDACER1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ACER1
DgiDB (Drug Gene Interaction Database)ACER1
DoCM (Curated mutations)ACER1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACER1 (select a term)
intoGenACER1
Cancer3DACER1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613491   
Orphanet
MedgenACER1
Genetic Testing Registry ACER1
NextProtQ8TDN7 [Medical]
TSGene125981
GENETestsACER1
Huge Navigator ACER1 [HugePedia]
snp3D : Map Gene to Disease125981
BioCentury BCIQACER1
ClinGenACER1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD125981
Chemical/Pharm GKB GenePA164714838
Clinical trialACER1
Miscellaneous
canSAR (ICR)ACER1 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACER1
EVEXACER1
GoPubMedACER1
iHOPACER1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 11:53:29 CET 2017

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