Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal [ Homo sapiens (human) ]

Gene ID: 6609, updated on 12-Apr-2014
Official Symbol
SMPD1provided by HGNC
Official Full Name
sphingomyelin phosphodiesterase 1, acid lysosomalprovided by HGNC
Primary source
HGNC:11120
See related
Ensembl:ENSG00000166311; HPRD:06353; 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]
Location :
11p15.4-p15.1
Sequence :
Chromosome: 11; NC_000011.10 (6390331..6394998)
See SMPD1 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927825 Neighboring gene protein kinase C, delta binding protein Neighboring gene amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) Neighboring gene hemopexin

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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, p27 nef HIV-1 Nef expression in human glial cells modulates the sphingomyelinase signaling pathway triggered by TNF-alpha PubMed

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hydrolase activity, acting on glycosyl bonds IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
 
sphingomyelin phosphodiesterase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell death IEA
Inferred from Electronic Annotation
more info
 
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
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
sphingolipid metabolic process TAS
Traceable Author Statement
more info
 
sphingomyelin catabolic process IEA
Inferred from Electronic Annotation
more info
 
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
extracellular space IEA
Inferred from Electronic Annotation
more info
 
lamellar body IEA
Inferred from Electronic Annotation
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
Preferred Names
sphingomyelin phosphodiesterase
Names
sphingomyelin phosphodiesterase
acid sphingomyelinase
NP_000534.3
NP_001007594.2

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 proteins identical to NP_000534.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA746054, AB209775, BI599208, M59916
    Consensus CDS
    CCDS44531.1
    UniProtKB/Swiss-Prot
    P17405
    UniProtKB/TrEMBL
    Q59EN6
    Related
    ENSP00000340409, OTTHUMP00000229836, ENST00000342245, OTTHUMT00000384205
    Conserved Domains (3) summary
    cd00842
    Location:203498
    Blast Score: 997
    MPP_ASMase; acid sphingomyelinase and related proteins, metallophosphatase domain
    smart00741
    Location:89162
    Blast Score: 118
    SapB; Saposin (B) Domains
    COG1409
    Location:258521
    Blast Score: 95
    Icc; Predicted phosphohydrolases [General function prediction only]
  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, OTTHUMP00000232789, ENST00000527275, OTTHUMT00000389550
    Conserved Domains (3) summary
    cd00842
    Location:202497
    Blast Score: 996
    MPP_ASMase; acid sphingomyelinase and related proteins, metallophosphatase domain
    smart00741
    Location:89161
    Blast Score: 110
    SapB; Saposin (B) Domains
    COG1409
    Location:257520
    Blast Score: 95
    Icc; Predicted phosphohydrolases [General function prediction only]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10

    Range
    6390331..6394998
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005253075.2XP_005253132.1  

    Conserved Domains (3) summary
    cd00842
    Location:203495
    Blast Score: 988
    MPP_ASMase; acid sphingomyelinase and related proteins, metallophosphatase domain
    smart00741
    Location:89162
    Blast Score: 118
    SapB; Saposin (B) Domains
    COG1409
    Location:258463
    Blast Score: 86
    Icc; Predicted phosphohydrolases [General function prediction only]

Alternate HuRef

Genomic

  1. AC_000143.1 Alternate HuRef

    Range
    6070739..6075337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    6410778..6415363
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_027400.1: Suppressed sequence

    Description
    NR_027400.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...