About   Help   FAQ
Smpd1 Gene Detail
Summary
  • Symbol
    Smpd1
  • Name
    sphingomyelin phosphodiesterase 1, acid lysosomal
  • Synonyms
    acid sphingomyelinase, ASM, aSMase, A-SMase, Zn-SMase
  • Feature Type
    protein coding gene
  • IDs
    MGI:98325
    NCBI Gene: 20597
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:105554360-105558389 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 55.90 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    41 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98325
protein coding gene Chr7:105554360-105558389 (.)
129S1/SvImJ MGP_129S1SvImJ_G0032754
protein coding gene Chr7:108812127-108816155 (+)
A/J MGP_AJ_G0032734
protein coding gene Chr7:105962463-105966491 (+)
AKR/J MGP_AKRJ_G0032667
protein coding gene Chr7:108735516-108739544 (+)
BALB/cJ MGP_BALBcJ_G0032740
protein coding gene Chr7:105678345-105682373 (+)
C3H/HeJ MGP_C3HHeJ_G0032449
protein coding gene Chr7:108835369-108839397 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033245
protein coding gene Chr7:113170297-113174325 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030229
protein coding gene Chr7:107942297-107946517 (+)
CAST/EiJ MGP_CASTEiJ_G0031779
protein coding gene Chr7:100665496-100669561 (+)
CBA/J MGP_CBAJ_G0032423
protein coding gene Chr7:116921564-116925592 (+)
DBA/2J MGP_DBA2J_G0032576
protein coding gene Chr7:104233383-104237411 (+)
FVB/NJ MGP_FVBNJ_G0032529
protein coding gene Chr7:104038502-104042530 (+)
LP/J MGP_LPJ_G0032667
protein coding gene Chr7:110208659-110212687 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032561
protein coding gene Chr7:118522516-118527943 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033266
protein coding gene Chr7:107793019-107797047 (+)
PWK/PhJ MGP_PWKPhJ_G0031492
protein coding gene Chr7:97170623-97174690 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031341
protein coding gene Chr7:94911701-94915769 (+)
WSB/EiJ MGP_WSBEiJ_G0031896
protein coding gene Chr7:108436651-108440679 (+)



Homology
more
  • Human Ortholog
    SMPD1, sphingomyelin phosphodiesterase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SMPD1, sphingomyelin phosphodiesterase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ASM, ASMASE, NPD
  • Links
    NCBI Gene ID: 6609
    neXtProt AC: NX_P17405
    UniProt: P17405

  • Chr Location
    11p15.4; chr11:6390301-6394998 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Smpd1 mouse models; 2 with human SMPD1 associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    35 phenotypes from 3 alleles in 4 genetic backgrounds
    3 phenotypes from multigenic genotypes
    97 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Nullizygous mutations cause tremors, ataxia, altered lipid homeostasis, increased foam cell number, Purkinje cell loss and premature death, and may lead to hepatosplenomegaly, hunched posture, reduced weight, abnormal apoptosis, sperm defects, dyspnea, and high susceptibility to bacterial infection.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20597 NCBI Gene Model | MGI Sequence Detail 4030 C57BL/6J ±  kb
    transcript NM_011421 RefSeq | MGI Sequence Detail 2430 C57BL/6  
    polypeptide Q04519 UniProt | EBI | MGI Sequence Detail 627 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 118
      Genomic 4
      cDNA 112
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-14452
    References
    more
    • Summaries
      All 153
      Developmental Gene Expression 5
      Diseases 7
      Gene Ontology 7
      Phenotypes 97
    • Earliest
      J:18511 Pentchev PG, et al., A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase. Biochim Biophys Acta. 1980 Sep 8;619(3):669-79
    • Latest
      J:257481 Novgorodov SA, et al., Acid sphingomyelinase promotes mitochondrial dysfunction due to glutamate-induced regulated necrosis. J Lipid Res. 2018 Feb;59(2):312-329

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory