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

SMPDL3A Gene

protein-coding   GIFtS: 51
GCID: GC06P123152

sphingomyelin phosphodiesterase, acid-like 3A

 Explore 4 diseases affiliated with
SMPDL3A via our new
 Human Malady Compendium 
Biological research products
for SMPDL3A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Sphingomyelin Phosphodiesterase, Acid-Like 3A1 2     FLJ201771
ASM3A1 2     0610010C24Rik2
ASML3a1 2     Acid Sphingomyelinase-Like Phosphodiesterase 3a2
YR36GH4.11     EC 3.1.4.-3
ASM-Like Phosphodiesterase 3a2 3     EC 3.1.48
ASML3A3 5     

External Ids:    HGNC: 173891   Entrez Gene: 109242   Ensembl: ENSG000001725947   OMIM: 6107285   UniProtKB: Q924843   

Export aliases for SMPDL3A gene to outside databases

Previous GC identifers: GC06P123090 GC06P123091 GC06P120686


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

  --

(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_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMPDL3A gene promoter:
         TBP   USF1   NF-1   AML1a   Nkx2-5   C/EBPalpha   Evi-1   Egr-4   USF-1   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMPDL3A promoter sequence
   Search SABiosciences Chromatin IP Primers for SMPDL3A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMPDL3A


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

Entrez Gene cytogenetic band: 6q22.31   Ensembl cytogenetic band:  6q22.31   HGNC cytogenetic band: 6q22.32

SMPDL3A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMPDL3A gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P123152:  view genomic region     (about GC identifiers)

Start:
123,109,971 bp from pter      End:
123,130,865 bp from pter
Size:
20,895 bases      Orientation:
plus strand

(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: ASM3A_HUMAN, Q92484 (See protein sequence)
Recommended Name: Acid sphingomyelinase-like phosphodiesterase 3a precursor  
Size: 453 amino acids; 51260 Da
Subcellular location: Secreted (By similarity)
Secondary accessions: Q8WV13

Explore the universe of human proteins at neXtProt for SMPDL3A: NX_Q92484

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92484

  • 4 DME Specific Peptides for SMPDL3A (Q92484)
     LNTNLYY  DFIKNSGQ  HLDPTYHIT  SFMIWTGDSPPHVPV 

    SMPDL3A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006705.1  
    ENSEMBL proteins: 
     ENSP00000357425   ENSP00000442152  

    Human Recombinant Protein Products: 
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    Novus Biologicals SMPDL3A Protein
    Novus Biologicals SMPDL3A Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SMPDL3A

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS--
    GO:0005615extracellular space IEA--


    SMPDL3A for ontologies           About GeneDecksing



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

    SMPDL3A for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR004843 Metallo_PEstase_dom
     IPR017064 ASM-like_Pdiesterase_prd

    Graphical View of Domain Structure for InterPro Entry Q92484

    ProtoNet protein and cluster: Q92484

    UniProtKB/Swiss-Prot: ASM3A_HUMAN, Q92484
    Similarity: Belongs to the acid sphingomyelinase family


    (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

    Enzyme Numbers (IUBMB): EC 3.1.4.-1 EC 3.1.42

    miRNA
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004767sphingomyelin phosphodiesterase activity IEA--
    GO:0005515protein binding IPI12442002
    GO:0016787hydrolase activity ----
    GO:0016798hydrolase activity, acting on glycosyl bonds IEA--


    SMPDL3A for ontologies           About GeneDecksing



    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SMPDL3A

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for SMPDL3A (Q924843 ENSP000003574254) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DBC1O604773, ENSP000002659224I2D: score=1 STRING: ENSP00000265922
    APOA1P026473, ENSP000002368504I2D: score=1 STRING: ENSP00000236850
    HNF1AP208233I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006685sphingomyelin catabolic process IEA--
    GO:0008150biological_process ND--


    SMPDL3A for ontologies           About GeneDecksing



    (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 SMPDL3A
    Search CenterWatch for drugs/clinical trials and news about SMPDL3A / ASM3A 

    (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 SMPDL3A gene: 
    NM_006714.3  

    Unigene Cluster for SMPDL3A:

    Sphingomyelin phosphodiesterase, acid-like 3A
    Hs.486357  [show with all ESTs]
    Unigene Representative Sequence: AK096144
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368440(uc003pzg.3 uc003pzh.3) ENST00000487215 ENST00000539041


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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SMPDL3A (see all 7)
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    Additional cDNA sequence: 

    AK000184.1 AK096144.1 AK301365.1 BC018999.2 Y08136.1 

    9 DOTS entries:

    DT.411812  DT.40112298  DT.100788124  DT.91649755  DT.100723717  DT.75156210  DT.100788126  DT.40206248 
    DT.100788120 

    24/95 AceView cDNA sequences (see all 95):

    BM795153 BC018999 AV729052 BM985118 CR620022 BX360150 AI285540 BX360162 
    NM_006714 CB156170 BM846911 BI757489 BE222616 N31113 BX102025 BC066591 
    AK000184 BX337330 BM805174 AA406438 BI494241 CF994334 AI005229 CD109701 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for SMPDL3A (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b
    SP1:                                                        -                                                         
    SP2:                                -     -     -           -                                                         
    SP3:                                -     -     -           -     -     -                                             
    SP4:                                -     -     -           -     -                                                   
    SP5:                                                                                            -     -               


    ECgene alternative splicing isoforms for SMPDL3A

    (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

    SMPDL3A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAGGCCTTT

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

    About this image

    SMPDL3A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ progenitor EN27 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SMPDL3A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMPDL3A

    SOURCE GeneReport for Unigene cluster: Hs.486357
        SABiosciences Custom PCR Arrays for SMPDL3A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMPDL3A

    (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 animals.

    Orthologs for SMPDL3A gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smpdl3a1 , 5 sphingomyelin phosphodiesterase, acid-like 3A1, 5 82.54(n)1
    81.04(a)1
      10 (29.25 cM)5
    573191  NM_020561.21  NP_065586.31 
     577943355 
    chicken
    (Gallus gallus)
    Aves SMPDL3A1 sphingomyelin phosphodiesterase, acid-like 3A 71.62(n)
    68.19(a)
      776223  XM_001235756.2  XP_001235757.2 
    lizard
    (Anolis carolinensis)
    Reptilia SMPDL3A6
    --
    65(a)
    1 ↔ 1
    1(182221410-182246860)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL854787.22   -- 78.79(n)    AL854787.2 
    zebrafish
    (Danio rerio)
    Actinopterygii smpdl3a1 sphingomyelin phosphodiesterase, acid-like 3A 64.39(n)
    64.77(a)
      541525  NM_001014338.1  NP_001014360.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG320526
    --
    28(a)
    1 → many
    3L(9792162-9801813)
    worm
    (Caenorhabditis elegans)
    Secernentea ZK856.56
    Protein ZK856.5
    27(a)
    1 → many
    V(10185981-10190113)


    ENSEMBL Gene Tree for SMPDL3A (if available)
    TreeFam Gene Tree for SMPDL3A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMPDL3A gene
    SMPD12  SMPDL3B2  
    2 SIMAP similar genes for SMPDL3A using alignment to 2 protein entries:     ASM3A_HUMAN (see all proteins):
    SMPDL3B    ASM

    SMPDL3A for paralogs           About GeneDecksing



    (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

    10/439 NCBI SNPs in SMPDL3A are shown (see all 439    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2010594311,2
    C--123107999(-) TCACTC/TCTTTT 1 -- us2k10--------
    rs1421134821,2
    --123108029(+) TTATCC/GTTTTC 1 -- us2k10--------
    rs1154738151,2
    --123108073(+) GTTGTT/CTTGTT 1 -- us2k11Minor allele frequency- C:0.01WA 118
    rs1896331541,2
    --123108114(+) CACCAG/TTTTTT 1 -- us2k10--------
    rs1926071121,2
    --123108165(+) GAGAAA/GCTCCA 1 -- us2k10--------
    rs94822871,2
    C,F,A,H,--123108171(+) CTCCAG/AGGACC 1 -- us2k16Minor allele frequency- A:0.05NS EA WA NA 616
    rs1475215121,2
    --123108186(+) TGTCCA/TCCACT 1 -- us2k10--------
    rs1169270601,2
    F,--123108433(+) GATACA/GGCAAT 1 -- us2k11Minor allele frequency- G:0.02NA 120
    rs1843583881,2
    --123108476(+) CTAGAC/TGGGCA 1 -- us2k10--------
    rs760749891,2
    C--123108501(+) TGGGCA/GGGGGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SMPDL3A (123109971 - 123130865 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SMPDL3A
         1 Indel: 59288

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SMPDL3A
    DNA2.0 Custom Variant and Variant Library Synthesis for SMPDL3A

    (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

    SMPDL3A for disorders           About GeneDecksing

    OMIM gene information: 610728    OMIM disorders: --

    4 diseases for SMPDL3A:    About MalaCards
    fibrous histiocytoma    malignant fibrous histiocytoma    histiocytoma    sarcoma

    Human Genome Epidemiology (HuGE) Navigator: SMPDL3A (1 document)

    Export disorders for SMPDL3A gene to outside databases

    (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 SMPDL3A gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SMPDL3A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Increased expression of the acid sphingomyelinase-like protein ASML3a in bladder tumors. (PubMed id 12442002)1, 3, 9 Wright K.O....Reeder J.E. (2002)
    2. 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)
    3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    4. Regulation of sphingomyelin phosphodiesterase acid-lik e 3A gene (SMPDL3A) by liver X receptors. (PubMed id 22810003)1 Noto P.B....Lala D.S. (2012)
    5. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (2009)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    7. 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)
    8. Malignant fibrous histiocytoma--pleomorphic sarcoma, NOS gene expression, histology, and clinical course. A pilot study. (PubMed id 19159951)9 Daigeler A....Marcus L. (2010)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10924 HGNC: 17389 AceView: SMPDL3A Ensembl:ENSG00000172594 euGenes: HUgn10924
    ECgene: SMPDL3A H-InvDB: SMPDL3A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SMPDL3A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SMPDL3A gene:
    Search GeneIP for patents involving SMPDL3A

    GeneCards and IP:
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