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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
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:105203567-105207596 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 55.90 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    175 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 Chr7:105203567-105207596 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMPD1, sphingomyelin phosphodiesterase 1
  • Synonyms
    ASM, ASMASE, NPD
  • Links
    NCBI Gene ID: 6609
    neXtProt AC: NX_P17405
    UniProt: P17405

  • Chr Location
    11p15.4; chr11:6390440-6394998 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Smpd1 mouse models; 3 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
    36 phenotypes from 3 alleles in 3 genetic backgrounds
    3 phenotypes from multigenic genotypes
    132 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
    70
  • GO References
    15
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    929
  • Tissues
    99
  • cDNA Data
    112
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 ZRU/MplStud  
    polypeptide Q04519 UniProt | EBI | MGI Sequence Detail 627 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 119
      Genomic 4
      cDNA 112
      Primer pair 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-14452
    References
    more
    • Summaries
      All 203
      Developmental Gene Expression 6
      Diseases 7
      Gene Ontology 15
      Phenotypes 132
    • 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:351631 Chen Y, et al., ASM is a therapeutic target in dermatomyositis by regulating the differentiation of naive CD4 + T cells into Th17 and Treg subsets. Skelet Muscle. 2024 Jul 18;14(1):16
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory