Format

Send to:

Choose Destination

Smpd1 sphingomyelin phosphodiesterase 1, acid lysosomal [ Mus musculus (house mouse) ]

Gene ID: 20597, updated on 7-May-2019

Summary

Official Symbol
Smpd1provided by MGI
Official Full Name
sphingomyelin phosphodiesterase 1, acid lysosomalprovided by MGI
Primary source
MGI:MGI:98325
See related
Ensembl:ENSMUSG00000037049
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
ASM; aSMase; A-SMase; Zn-SMase
Expression
Ubiquitous expression in heart adult (RPKM 61.3), kidney adult (RPKM 47.4) and 27 other tissues See more
Orthologs

Genomic context

See Smpd1 in Genome Data Viewer
Location:
7 E3; 7 55.9 cM
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 7 NC_000073.6 (105554360..105558389)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (112702874..112706903)

Chromosome 7 - NC_000073.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 36847 Neighboring gene predicted gene, 39063 Neighboring gene amyloid beta (A4) precursor protein-binding, family B, member 1 Neighboring gene hemopexin

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from BioSystems

General gene information

Markers

Homology

Gene Ontology Provided by MGI

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 
acid sphingomyelin phosphodiesterase activity ISO
Inferred from Sequence Orthology
more info
 
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
hydrolase activity, acting on glycosyl bonds IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphoric diester hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sphingomyelin phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
ceramide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ceramide biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
ceramide metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
metabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of MAP kinase activity ISO
Inferred from Sequence Orthology
more info
 
positive regulation of apoptotic process ISO
Inferred from Sequence Orthology
more info
 
positive regulation of protein dephosphorylation ISO
Inferred from Sequence Orthology
more info
 
response to cocaine ISO
Inferred from Sequence Orthology
more info
 
sphingomyelin catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sphingomyelin catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
sphingomyelin catabolic process ISO
Inferred from Sequence Orthology
more info
 
termination of signal transduction ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
endosome ISO
Inferred from Sequence Orthology
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space ISO
Inferred from Sequence Orthology
more info
 
lamellar body ISO
Inferred from Sequence Orthology
more info
 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome ISO
Inferred from Sequence Orthology
more info
 
plasma membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
sphingomyelin phosphodiesterase
Names
acid sphingomyelinase
NP_035551.1

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.

mRNA and Protein(s)

  1. NM_011421.2NP_035551.1  sphingomyelin phosphodiesterase precursor

    See identical proteins and their annotated locations for NP_035551.1

    Status: VALIDATED

    Source sequence(s)
    AK145702, BP760033
    Consensus CDS
    CCDS21653.1
    UniProtKB/Swiss-Prot
    Q04519
    Related
    ENSMUSP00000042187.8, ENSMUST00000046983.9
    Conserved Domains (3) summary
    smart00741
    Location:85158
    SapB; Saposin (B) Domains
    cd00842
    Location:199494
    MPP_ASMase; acid sphingomyelinase and related proteins, metallophosphatase domain
    pfam00149
    Location:252459
    Metallophos; Calcineurin-like phosphoesterase

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000073.6 Reference GRCm38.p4 C57BL/6J

    Range
    105554360..105558389
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center