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SMPD1 (sphingomyelin phosphodiesterase 1, acid lysosomal)

Identity

Other namesASM
ASMASE
NPD
HGNC (Hugo) SMPD1
LocusID (NCBI) 6609
Location 11p15.4
Location_base_pair Starts at 6411644 and ends at 6416228 bp from pter ( according to hg19-Feb_2009)
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

 

External links

Nomenclature
HGNC (Hugo)SMPD1   11120
Cards
Entrez_Gene (NCBI)SMPD1  6609  sphingomyelin phosphodiesterase 1, acid lysosomal
GeneCards (Weizmann)SMPD1
Ensembl hg19 (Hinxton)ENSG00000166311 [Gene_View]  chr11:6411644-6416228 [Contig_View]  SMPD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000166311 [Gene_View]  chr11:6411644-6416228 [Contig_View]  SMPD1 [Vega]
ICGC DataPortalENSG00000166311
cBioPortalSMPD1
AceView (NCBI)SMPD1
Genatlas (Paris)SMPD1
WikiGenes6609
SOURCE (Princeton)SMPD1
Genomic and cartography
GoldenPath hg19 (UCSC)SMPD1  -     chr11:6411644-6416228 +  11p15.4   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SMPD1  -     11p15.4   [Description]    (hg38-Dec_2013)
EnsemblSMPD1 - 11p15.4 [CytoView hg19]  SMPD1 - 11p15.4 [CytoView hg38]
Mapping of homologs : NCBISMPD1 [Mapview hg19]  SMPD1 [Mapview hg38]
OMIM257200   607608   607616   
Gene and transcription
Genbank (Entrez)AA746054 AB209775 AK292388 AY649987 BC041164
RefSeq transcript (Entrez)NM_000543 NM_001007593
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NG_011780 NT_009237 NW_001838021 NW_004929378
Consensus coding sequences : CCDS (NCBI)SMPD1
Cluster EST : UnigeneHs.498173 [ NCBI ]
CGAP (NCI)Hs.498173
Alternative Splicing : Fast-db (Paris)GSHG0004597
Alternative Splicing GalleryENSG00000166311
Gene ExpressionSMPD1 [ NCBI-GEO ]     SMPD1 [ SEEK ]   SMPD1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17405 (Uniprot)
NextProtP17405  [Medical]
With graphics : InterProP17405
Splice isoforms : SwissVarP17405 (Swissvar)
Catalytic activity : Enzyme3.1.4.12 [ Enzyme-Expasy ]   3.1.4.123.1.4.12 [ IntEnz-EBI ]   3.1.4.12 [ BRENDA ]   3.1.4.12 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)SAP_B (PS50015)   
Domains : Interpro (EBI)Calcineurin-like_PHP_apaH    Metallo-depent_PP-like    Saposin-like    SaposinB    Sphingomy_PDE   
Related proteins : CluSTrP17405
Domain families : Pfam (Sanger)Metallophos (PF00149)   
Domain families : Pfam (NCBI)pfam00149   
Domain families : Smart (EMBL)SapB (SM00741)  
DMDM Disease mutations6609
Blocks (Seattle)P17405
Human Protein AtlasENSG00000166311
Peptide AtlasP17405
HPRD06353
IPIIPI00296461   IPI00218785   IPI00980058   IPI00971183   IPI00977219   IPI00980680   IPI00978061   IPI00218784   
Protein Interaction databases
DIP (DOE-UCLA)P17405
IntAct (EBI)P17405
FunCoupENSG00000166311
BioGRIDSMPD1
IntegromeDBSMPD1
STRING (EMBL)SMPD1
Ontologies - Pathways
QuickGOP17405
Ontology : AmiGOsphingomyelin phosphodiesterase activity  protein binding  extracellular space  sphingolipid metabolic process  sphingomyelin metabolic process  sphingomyelin catabolic process  glycosphingolipid metabolic process  signal transduction  nervous system development  cell death  hydrolase activity, acting on glycosyl bonds  termination of signal transduction  positive regulation of protein dephosphorylation  response to cocaine  response to drug  lamellar body  positive regulation of apoptotic process  lysosomal lumen  negative regulation of MAP kinase activity  small molecule metabolic process  ceramide biosynthetic process  extracellular vesicular exosome  
Ontology : EGO-EBIsphingomyelin phosphodiesterase activity  protein binding  extracellular space  sphingolipid metabolic process  sphingomyelin metabolic process  sphingomyelin catabolic process  glycosphingolipid metabolic process  signal transduction  nervous system development  cell death  hydrolase activity, acting on glycosyl bonds  termination of signal transduction  positive regulation of protein dephosphorylation  response to cocaine  response to drug  lamellar body  positive regulation of apoptotic process  lysosomal lumen  negative regulation of MAP kinase activity  small molecule metabolic process  ceramide biosynthetic process  extracellular vesicular exosome  
Pathways : BIOCARTAPhospholipids as signalling intermediaries [Genes]    Ceramide Signaling Pathway [Genes]   
Pathways : KEGGSphingolipid metabolism    Lysosome   
Protein Interaction DatabaseSMPD1
DoCM (Curated mutations)SMPD1
Wikipedia pathwaysSMPD1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerSMPD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMPD1
dbVarSMPD1
ClinVarSMPD1
1000_GenomesSMPD1 
Exome Variant ServerSMPD1
SNP (GeneSNP Utah)SMPD1
SNP : HGBaseSMPD1
Genetic variants : HAPMAPSMPD1
Genomic VariantsSMPD1  SMPD1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000166311 
Somatic Mutations in Cancer : COSMICSMPD1 
CONAN: Copy Number AnalysisSMPD1 
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
LOVD (Leiden Open Variation Database)Mendelian genes
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:6411644-6416228
Mutations and Diseases : HGMDSMPD1
OMIM257200    607608    607616   
MedgenSMPD1
NextProtP17405 [Medical]
GENETestsSMPD1
Disease Genetic AssociationSMPD1
Huge Navigator SMPD1 [HugePedia]  SMPD1 [HugeCancerGEM]
snp3D : Map Gene to Disease6609
DGIdb (Drug Gene Interaction db)SMPD1
General knowledge
Homologs : HomoloGeneSMPD1
Homology/Alignments : Family Browser (UCSC)SMPD1
Phylogenetic Trees/Animal Genes : TreeFamSMPD1
Chemical/Protein Interactions : CTD6609
Chemical/Pharm GKB GenePA35969
Clinical trialSMPD1
Cancer Resource (Charite)ENSG00000166311
Other databases
Probes
Litterature
PubMed101 Pubmed reference(s) in Entrez
CoreMineSMPD1
GoPubMedSMPD1
iHOPSMPD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 01:32:54 CET 2014

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