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    SMPD1 sphingomyelin phosphodiesterase 1 [ Homo sapiens (human) ]

    Gene ID: 6609, updated on 13-Oct-2018

    Summary

    Official Symbol
    SMPD1provided by HGNC
    Official Full Name
    sphingomyelin phosphodiesterase 1provided by HGNC
    Primary source
    HGNC:HGNC:11120
    See related
    Ensembl:ENSG00000166311 MIM:607608; Vega:OTTHUMG00000165453
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ASM; NPD; ASMASE
    Summary
    The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
    Expression
    Ubiquitous expression in kidney (RPKM 23.5), thyroid (RPKM 14.4) and 25 other tissues See more
    Orthologs

    Genomic context

    See SMPD1 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (6390414..6394998)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (6411644..6416228)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene cholecystokinin B receptor Neighboring gene uncharacterized LOC101927825 Neighboring gene caveolae associated protein 3 Neighboring gene amyloid beta precursor protein binding family B member 1 Neighboring gene hemopexin

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Treatment of cells with sphingomyelinase inhibits viral fusion after the engagement of HIV-1 gp120 with CD4 and sphingomyelinase restricts CD4 mobility. This inhibition is dependent on CD4 expression levels PubMed
    env In human primary neurons, HIV-1 gp120 induces the activation of sphingomyelinases (primarily neutral sphingomyelinase); antisense knockdown of neutral sphingomyelinase markedly inhibits gp120-mediated apoptosis and cell death of primary neurons PubMed
    Nef nef HIV-1 Nef inhibits sphingomyelinase activity in human podocyte PubMed
    nef HIV-1 Nef expression in human glial cells modulates the sphingomyelinase signaling pathway triggered by TNF-alpha PubMed
    Tat tat HIV-1 Tat upregulates sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1) expression in Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acid sphingomyelin phosphodiesterase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acid sphingomyelin phosphodiesterase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hydrolase activity, acting on glycosyl bonds IEA
    Inferred from Electronic Annotation
    more info
     
    phosphoric diester hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sphingomyelin phosphodiesterase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sphingomyelin phosphodiesterase activity TAS
    Traceable Author Statement
    more info
     
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    ceramide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ceramide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ceramide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glycosphingolipid metabolic process TAS
    Traceable Author Statement
    more info
     
    negative regulation of MAP kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein dephosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to cocaine IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    sphingomyelin catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sphingomyelin catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sphingomyelin metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    termination of signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lamellar body IEA
    Inferred from Electronic Annotation
    more info
     
    lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    sphingomyelin phosphodiesterase
    Names
    acid sphingomyelinase
    sphingomyelin phosphodiesterase 1, acid lysosomal
    NP_000534.3
    NP_001007594.2
    NP_001305016.1
    NP_001305017.1
    XP_011518605.1
    XP_011518606.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011780.1 RefSeqGene

      Range
      4990..9574
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000543.4NP_000534.3  sphingomyelin phosphodiesterase isoform 1 precursor

      See identical proteins and their annotated locations for NP_000534.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA746054, AB209775, BI599208, M59916
      Consensus CDS
      CCDS44531.1
      UniProtKB/Swiss-Prot
      P17405
      UniProtKB/TrEMBL
      Q59EN6
      Related
      ENSP00000340409.4, OTTHUMP00000229836, ENST00000342245.8, OTTHUMT00000384205
      Conserved Domains (3) summary
      smart00741
      Location:89162
      SapB; Saposin (B) Domains
      cd00842
      Location:203498
      MPP_ASMase; acid sphingomyelinase and related proteins, metallophosphatase domain
      pfam00149
      Location:256463
      Metallophos; Calcineurin-like phosphoesterase
    2. NM_001007593.2NP_001007594.2  sphingomyelin phosphodiesterase isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded protein (isoform 2) is one amino acid shorter than isoform 1.
      Source sequence(s)
      AA746054, AB209775, BI599208, M59916
      Consensus CDS
      CCDS31409.2
      UniProtKB/Swiss-Prot
      P17405
      UniProtKB/TrEMBL
      Q59EN6
      Related
      ENSP00000435350.1, OTTHUMP00000232789, ENST00000527275.5, OTTHUMT00000389550
      Conserved Domains (3) summary
      smart00741
      Location:89161
      SapB; Saposin (B) Domains
      cd00842
      Location:202497
      MPP_ASMase; acid sphingomyelinase and related proteins, metallophosphatase domain
      pfam00149
      Location:255462
      Metallophos; Calcineurin-like phosphoesterase
    3. NM_001318087.1NP_001305016.1  sphingomyelin phosphodiesterase isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in its 3' exon resulting in a frameshift and an early stop codon compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AA746054, BC041164, BI599208, HQ132747, M59916
      UniProtKB/Swiss-Prot
      P17405
      UniProtKB/TrEMBL
      E9LUE8, Q8IUN0
      Conserved Domains (3) summary
      smart00741
      Location:89162
      SapB; Saposin (B) Domains
      cd00842
      Location:203495
      MPP_ASMase; acid sphingomyelinase and related proteins, metallophosphatase domain
      pfam00149
      Location:256463
      Metallophos; Calcineurin-like phosphoesterase
    4. NM_001318088.1NP_001305017.1  sphingomyelin phosphodiesterase isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate translation start site compared to variant 1. The encoded isoform (4) has a shorter and distinct N-terminus, and lacks a predicted signal peptide compared to isoform 1.
      Source sequence(s)
      AB209775, BI599208, BM977655, HQ132748, M59916
      UniProtKB/Swiss-Prot
      P17405
      UniProtKB/TrEMBL
      E9LUE9, Q59EN6
      Conserved Domains (2) summary
      COG1409
      Location:95214
      CpdA; 3',5'-cyclic AMP phosphodiesterase CpdA [Signal transduction mechanisms]
      cd00842
      Location:47191
      MPP_ASMase; acid sphingomyelinase and related proteins, metallophosphatase domain
    5. NM_001365135.1NP_001352064.1  sphingomyelin phosphodiesterase isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC068733
      Conserved Domains (2) summary
      smart00741
      Location:89162
      SapB; Saposin (B) Domains
      cd00842
      Location:203454
      MPP_ASMase; acid sphingomyelinase and related proteins, metallophosphatase domain

    RNA

    1. NR_027400.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ASM-3) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA746054, BC041164, HY095805
      Related
      ENST00000533123.5, OTTHUMT00000384206
    2. NR_134502.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AY649987, BI599208, BM977655, M59916

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      6390414..6394998
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520303.2XP_011518605.1  sphingomyelin phosphodiesterase isoform X1

      Conserved Domains (2) summary
      smart00741
      Location:89162
      SapB; Saposin (B) Domains
      cd00842
      Location:203454
      MPP_ASMase; acid sphingomyelinase and related proteins, metallophosphatase domain
    2. XM_011520304.2XP_011518606.1  sphingomyelin phosphodiesterase isoform X2

      Conserved Domains (3) summary
      smart00741
      Location:89162
      SapB; Saposin (B) Domains
      cd00842
      Location:203451
      MPP_ASMase; acid sphingomyelinase and related proteins, metallophosphatase domain
      pfam00149
      Location:256419
      Metallophos; Calcineurin-like phosphoesterase

    RNA

    1. XR_002957158.1 RNA Sequence

    2. XR_001747940.2 RNA Sequence

      Related
      ENST00000534405.5
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