Gene/Proteome Database (LMPD)

LMPD ID
LMP001883
Gene ID
Species
Mus musculus (Mouse)
Gene Name
sphingomyelin phosphodiesterase 3, neutral
Gene Symbol
Synonyms
4631433G07Rik; AI427456; AW537966; fro; nSMase2
Alternate Names
sphingomyelin phosphodiesterase 3; nSMase-2; neutral sphingomyelinase 2; neutral sphingomyelinase II
Chromosome
8
Map Location
8|8 D2
EC Number
3.1.4.12

Proteins

sphingomyelin phosphodiesterase 3
Refseq ID NP_067466
Protein GI 10946902
UniProt ID Q9JJY3
mRNA ID NM_021491
Length 655
RefSeq Status PROVISIONAL
MVLYTTPFPNSCLSALHAVSWALIFPCYWLVDRLLASFIPTTYEKRQRADDPCCLQLFCTVLFTPVYLALLVAALPFAFLGFIFWSPLQSARRPYSYSRLEDKNPAGGAALLSEWKGTGAGKSFCFATANVCLLPDSLARLNNVFNTQARAKEIGQRIRNGAARPQIKIYIDSPTNTSISAASFSSLVSPQGGDGSRAVPGSIKRTASVEYKGDGGRHPSDEAANGPASGEQADGSLEDSCIVRIGGEEGGRPQEADDPAAGSQARNGAGGTPKGQTPNHNQRDGDSGSLGSPSASRESLVKARAGQDSGGSGEPGANSKLLYKTSVVKKAAARRRRHPDEAFDHEVSAFFPANLDFLCLQEVFDKRAAAKLKEQLHGYFEYILYDVGVYGCHGCCNFKCLNSGLFFASRYPVMDVAYHCYPNGCSFDALASKGALFLKVQVGSTPQDQRIVGYIACTHLHAPPEDSAVRCEQLDLLQDWLADFRKSTSSTSTANPEELVVFDVICGDLNFDNCSSDDKLEQQHSLFTRYKDPCRLGPGEEKPWAIGTLLDTNGLYDEDVCTPDNLQKVLESEEGRREYLAFPTSKSPGAGQKGRKDLLKGNGRRIDYMLHAEEGLCPDWKAEVEEFSFITQLSGLTDHLPVAMRLMVSAGEEEA

Gene Information

Entrez Gene ID
Gene Name
sphingomyelin phosphodiesterase 3, neutral
Gene Symbol
Species
Mus musculus

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005794 IDA:MGI C Golgi apparatus
GO:0000137 IDA:MGI C Golgi cis cisterna
GO:0005886 IEA:UniProtKB-KW C plasma membrane
GO:0046872 IEA:UniProtKB-KW F metal ion binding
GO:0004767 IDA:MGI F sphingomyelin phosphodiesterase activity
GO:0007049 IEA:UniProtKB-KW P cell cycle
GO:0002244 IMP:MGI P hematopoietic progenitor cell differentiation
GO:0030072 IMP:MGI P peptide hormone secretion
GO:0007165 TAS:MGI P signal transduction
GO:0006684 IDA:MGI P sphingomyelin metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
mmu01100 Metabolic pathways
mmu00600 Sphingolipid metabolism

BIOCYC Pathway Links

BIOCYC Pathway ID Description
PWY3DJ-11281 sphingomyelin metabolism

REACTOME Pathway Links

REACTOME Pathway ID Description
5893995 Glycosphingolipid metabolism

Domain Information

InterPro Annotations

Accession Description
IPR005135 Endonuclease/exonuclease/phosphatase

UniProt Annotations

Entry Information

Gene Name
sphingomyelin phosphodiesterase 3, neutral
Protein Entry
NSMA2_MOUSE
UniProt ID
Species
Mouse

Comments

Comment Type Description
Catalytic Activity Sphingomyelin + H(2)O = N-acylsphingosine + phosphocholine. {ECO:0000269|PubMed:12566438}.
Cofactor Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000269|PubMed:12566438};
Disruption Phenotype Defects in smpd3 are the cause of fragilitas ossium (fro) mutation characterized by severe osteogenesis and dentinogenesis imperfecta with no detectable collagen defect. Mice lacking Smpd2 and Smpd3 are completely devoid of neutral SMase activity but do not developed sphingomyelin storage abnormalities. Mice lacking Smpd3 develop a form of dwarfism and delayed puberty as part of a hypothalamus-induced combined pituitary hormone deficiency (CPHD). Growth retardation is probably due to delayed ossification of long bones. {ECO:0000269|PubMed:15764706}.
Enzyme Regulation Inhibited by nSMase inhibitor GW4869. {ECO:0000269|PubMed:12566438}.
Function Catalyzes the hydrolysis of sphingomyelin to form ceramide and phosphocholine. Ceramide mediates numerous cellular functions, such as apoptosis and growth arrest, and is capable of regulating these 2 cellular events independently. Also hydrolyzes sphingosylphosphocholine. Regulates the cell cycle by acting as a growth suppressor in confluent cells. Acts as a regulator of postnatal development and participates in bone and dentin mineralization. Overexpression enhances cell death, suggesting that it may be involved in apoptosis control. {ECO:0000269|PubMed:15051724, ECO:0000269|PubMed:15764706, ECO:0000269|PubMed:15929065, ECO:0000269|PubMed:16025116}.
Pathway Lipid metabolism; sphingolipid metabolism.
Ptm Palmitoylated, palmitoylation-deficient proteins are targeted for lysosomal degradation. {ECO:0000269|PubMed:17272284}.
Similarity Belongs to the neutral sphingomyelinase family. {ECO:0000305}.
Subcellular Location Golgi apparatus membrane; Lipid-anchor. Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}. Note=May localize to detergent-resistant subdomains of Golgi membranes of hypothalamic neurosecretory neurons.
Tissue Specificity Predominantly expressed in brain (at protein level). {ECO:0000269|PubMed:10823942}.

Identical and Related Proteins

Unique RefSeq proteins for LMP001883 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
10946902 RefSeq NP_067466 655 sphingomyelin phosphodiesterase 3

Identical Sequences to LMP001883 proteins

Reference Database Accession Length Protein Name
GI:10946902 GenBank EDL11360.1 655 sphingomyelin phosphodiesterase 3, neutral, isoform CRA_a [Mus musculus]
GI:10946902 GenBank EDL11361.1 655 sphingomyelin phosphodiesterase 3, neutral, isoform CRA_a [Mus musculus]
GI:10946902 GenBank EDL11362.1 655 sphingomyelin phosphodiesterase 3, neutral, isoform CRA_a [Mus musculus]
GI:10946902 RefSeq XP_006531302.1 655 PREDICTED: sphingomyelin phosphodiesterase 3 isoform X1 [Mus musculus]
GI:10946902 RefSeq XP_006531303.1 655 PREDICTED: sphingomyelin phosphodiesterase 3 isoform X2 [Mus musculus]
GI:10946902 RefSeq XP_006531304.1 655 PREDICTED: sphingomyelin phosphodiesterase 3 isoform X3 [Mus musculus]

Related Sequences to LMP001883 proteins

Reference Database Accession Length Protein Name
GI:10946902 GenBank EDL92444.1 655 sphingomyelin phosphodiesterase 3, neutral [Rattus norvegicus]
GI:10946902 RefSeq XP_006255605.1 655 PREDICTED: sphingomyelin phosphodiesterase 3 isoform X1 [Rattus norvegicus]
GI:10946902 RefSeq XP_006986908.1 655 PREDICTED: sphingomyelin phosphodiesterase 3 [Peromyscus maniculatus bairdii]
GI:10946902 RefSeq XP_008770763.1 655 PREDICTED: sphingomyelin phosphodiesterase 3 isoform X1 [Rattus norvegicus]
GI:10946902 RefSeq XP_008770764.1 655 PREDICTED: sphingomyelin phosphodiesterase 3 isoform X1 [Rattus norvegicus]
GI:10946902 SwissProt O35049.2 655 RecName: Full=Sphingomyelin phosphodiesterase 3; AltName: Full=Confluent 3Y1 cell-associated protein 1; AltName: Full=Neutral sphingomyelinase 2; Short=nSMase-2; Short=nSMase2; AltName: Full=Neutral sphingomyelinase II [Rattus norvegicus]