ENSMUSG00000037049


Mus musculus

Features
Gene ID: ENSMUSG00000037049
  
Biological name :Smpd1
  
Synonyms : Q04519 / Smpd1 / sphingomyelin phosphodiesterase 1, acid lysosomal
  
Possible biological names infered from orthology : P17405 / sphingomyelin phosphodiesterase 1
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: E3
Gene start: 105554360
Gene end: 105558389
  
Corresponding Affymetrix probe sets: 10555946 (MoGene1.0st)   1447874_x_at (Mouse Genome 430 2.0 Array)   1448621_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000042187
NCBI entrez gene - 20597     See in Manteia.
MGI - MGI:98325
RefSeq - NM_011421
RefSeq Peptide - NP_035551
swissprot - Q04519
Ensembl - ENSMUSG00000037049
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 smpd1ENSDARG00000076121Danio rerio
 SMPD1ENSGALG00000036106Gallus gallus
 SMPD1ENSG00000166311Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P70158 / Smpdl3a / sphingomyelin phosphodiesterase, acid-like 3A / Q92484*ENSMUSG0000001987220
P58242 / Smpdl3b / sphingomyelin phosphodiesterase, acid-like 3B / Q92485*ENSMUSG0000002888519


Protein motifs (from Interpro)
Interpro ID Name
 IPR004843  Calcineurin-like phosphoesterase domain, ApaH type
 IPR008139  Saposin B type domain
 IPR011001  Saposin-like
 IPR011160  Sphingomyelin phosphodiesterase
 IPR029052  Metallo-dependent phosphatase-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006685 sphingomyelin catabolic process ISS
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0023021 termination of signal transduction IEA
 biological_processGO:0035307 positive regulation of protein dephosphorylation IEA
 biological_processGO:0042220 response to cocaine IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0043407 negative regulation of MAP kinase activity IEA
 biological_processGO:0046513 ceramide biosynthetic process IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005764 lysosome ISO
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0042599 lamellar body IEA
 molecular_functionGO:0004767 sphingomyelin phosphodiesterase activity IEA
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016798 hydrolase activity, acting on glycosyl bonds IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0061750 acid sphingomyelin phosphodiesterase activity IDA


Pathways (from Reactome)
Pathway description
Glycosphingolipid metabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000599 enlarged liver "larger than average size of the liver" [J:65146]
Show

Allelic Composition: Smpd1tm1Wst/Smpd1tm1Wst
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000691 enlarged spleen "increased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Smpd1tm1Wst/Smpd1tm1Wst
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000716 abnormal immune system cell morphology "anomalous structure, development, or number of immune cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Ncantm3Ref/Ncantm3Ref
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Smpd1tm1Wst/Smpd1tm1Wst
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: Smpd1tm1Wst/Smpd1tm1Wst
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000820 abnormal choroid plexus morphology "malformed or absent fringe of the tela choroidea of the cerebral ventricles" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:45302]
Show

Allelic Composition: Smpd1tm1Wst/Smpd1tm1Wst
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000876 Purkinje cell degeneration "a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [J:46854]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Smpd1tm1Wst/Smpd1tm1Wst
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Smpd1tm1Wst/Smpd1tm1Wst
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Smpd1tm1Wst/Smpd1tm1Wst
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001505 hunched posture "stooped low with the limbs pulled in close to the body and arched back" [J:67231, J:30404]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0001556 increased circulating HDL cholesterol level "higher than average level of high density lipoprotein in the blood; this molecule transports cholesterol to the liver for excretion in bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:47439]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0001648 abnormal apoptosis "excessive or absent cell death in a particular tissue or cell type" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:25248]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0001954 respiratory distress "physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
Show

Allelic Composition: Smpd1tm1Wst/Smpd1tm1Wst
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Smpd1tm1Wst/Smpd1tm1Wst
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002118 abnormal lipid homeostasis "anomaly in the state of equilibrium in the body with respect to lipids in the fluids and tissues" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Smpd1tm1Wst/Smpd1tm1Wst
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002183 gliosis "increased growth pattern of neuroglia in a damaged area of the brain or spinal cord" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Smpd1tm1Wst/Smpd1tm1Wst
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002270 abnormal alveoli morphology "any structural anomaly of the outpouching of the respiratory system where gas exchange occurs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Smpd1tm1Wst/Smpd1tm1Wst
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002412 increased susceptibility to bacterial infection "greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0002462 abnormal granulocyte physiology "functional anomaly of neutrophils, eosinophils, or basophils " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0002675 asthenozoospermia "loss or reduction of the mobility of the spermatozoa, frequently associated with infertility" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0003360 depression-related behavior 
Show

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: MRL/MpJ-Faslpr Cntn1usl/GrsrJ

Allelic Composition: Asah1tm1.1Jhkh/Asah1+,Smpd1tm1Esc/Smpd1+
Genetic Background: involves: 129S1/Sv

 MP:0003666 impaired sperm capacitation "anomaly in the change undergone by spermatozoa in the female genital tract that enables them to penetrate and fertilize an egg" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:96669]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0004778 increased foam cell number "greater than normal number of a type of macrophage containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions" [CL:0000517]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Smpd1tm1Wst/Smpd1tm1Wst
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005202 lethargy "mild impairment of consciousness resulting in reduced alertness and awareness; ultimately due to generalized brain dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0005578 teratozoospermia "presence of malformed spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0006362 abnormal male germ cell morphology "any structural anomaly of male germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0008872 abnormal response to xenobiotics "any anomaly in the physiological or morphological changes induced by a foreign compound, such as changes in blood pressure, changes in hormone or protein levels or hypertrophy or hypotrophy of an organ" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: MRL/MpJ-Faslpr Cntn1usl/GrsrJ

 MP:0009937 abnormal neuron differentiation "abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: MRL/MpJ-Faslpr Cntn1usl/GrsrJ

Allelic Composition: Asah1tm1.1Jhkh/Asah1+,Smpd1tm1Esc/Smpd1+
Genetic Background: involves: 129S1/Sv

 MP:0012232 abnormal ceramide level 
Show

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: MRL/MpJ-Faslpr Cntn1usl/GrsrJ

Allelic Composition: Asah1tm1.1Jhkh/Asah1+,Smpd1tm1Esc/Smpd1+
Genetic Background: involves: 129S1/Sv

 MP:0012507 midbrain atrophy "acquired diminution of the size of the midbrain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0014185 cerebellum atrophy "acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:Anna]
Show

Allelic Composition: Pik3r1tm1Khn/Pik3r1tm1Khn
Genetic Background: involves: 129S4/SvJae * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr