Gene/Proteome Database (LMPD)

LMPD ID
LMP002843
Gene ID
6609
Species
Homo sapiens (Human)
Gene Name
sphingomyelin phosphodiesterase 1, acid lysosomal
Gene Symbol
SMPD1
Synonyms
ASM; ASMASE; NPD
Alternate Names
sphingomyelin phosphodiesterase; acid sphingomyelinase
Chromosome
11
Map Location
11p15.4-p15.1
EC Number
3.1.4.12
Summary
The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
Orthologs
View orthologs and multiple alignments for SMPD1

Proteins

sphingomyelin phosphodiesterase isoform 1 precursor
Refseq ID NP_000534
Protein GI 56117840
UniProt ID P17405
mRNA ID NM_000543
Length 631
RefSeq Status REVIEWED
MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALALSDSRVLWAPAEAHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIKLCNLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISLPTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASRPGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTTVTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEALRTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGDKVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLSARADSPALCRHLMPDGSLPEAQSLWPRPLFC
sphingomyelin phosphodiesterase isoform 2 precursor
Refseq ID NP_001007594
Protein GI 56117840
UniProt ID P17405
mRNA ID NM_001007593
Length 631
RefSeq Status REVIEWED
MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALALSDSRVLWAPAEAHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIKLCNLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISLPTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASRPGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTTVTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEALRTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGDKVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLSARADSPALCRHLMPDGSLPEAQSLWPRPLFC
sig_peptide: 1..48 calculated_mol_wt: 4910 peptide sequence: MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALA mat_peptide: 49..631 product: sphingomyelin phosphodiesterase isoform 1 calculated_mol_wt: 65045 peptide sequence: LSDSRVLWAPAEAHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIKLCNLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISLPTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASRPGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTTVTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEALRTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGDKVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLSARADSPALCRHLMPDGSLPEAQSLWPRPLFC sig_peptide: 1..48 calculated_mol_wt: 4910 peptide sequence: MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALA mat_peptide: 49..630 product: sphingomyelin phosphodiesterase isoform 2 calculated_mol_wt: 64917 peptide sequence: LSDSRVLWAPAEAHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKEPNVARVGSVAIKLCNLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISLPTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASRPGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTTVTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEALRTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGDKVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLSARADSPALCRHLMPDGSLPEAQSLWPRPLFC

Gene Information

Entrez Gene ID
6609
Gene Name
sphingomyelin phosphodiesterase 1, acid lysosomal
Gene Symbol
SMPD1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005615 IEA:Ensembl C extracellular space
GO:0070062 IDA:UniProtKB C extracellular vesicular exosome
GO:0042599 IEA:Ensembl C lamellar body
GO:0043202 TAS:Reactome C lysosomal lumen
GO:0016798 IEA:UniProtKB-KW F hydrolase activity, acting on glycosyl bonds
GO:0004767 TAS:ProtInc F sphingomyelin phosphodiesterase activity
GO:0008219 IEA:UniProtKB-KW P cell death
GO:0046513 IMP:BHF-UCL P ceramide biosynthetic process
GO:0006687 TAS:Reactome P glycosphingolipid metabolic process
GO:0043407 IMP:BHF-UCL P negative regulation of MAP kinase activity
GO:0007399 TAS:ProtInc P nervous system development
GO:0043065 IEA:Ensembl P positive regulation of apoptotic process
GO:0035307 IMP:BHF-UCL P positive regulation of protein dephosphorylation
GO:0042220 IEA:Ensembl P response to cocaine
GO:0042493 IEA:Ensembl P response to drug
GO:0007165 TAS:ProtInc P signal transduction
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0006665 TAS:Reactome P sphingolipid metabolic process
GO:0006685 IEA:InterPro P sphingomyelin catabolic process
GO:0006684 TAS:ProtInc P sphingomyelin metabolic process
GO:0023021 IMP:BHF-UCL P termination of signal transduction

KEGG Pathway Links

KEGG Pathway ID Description
hsa04142 Lysosome

BIOCYC Pathway Links

BIOCYC Pathway ID Description
PWY3DJ-11281 sphingomyelin metabolism

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_116105 Glycosphingolipid metabolism

Domain Information

InterPro Annotations

Accession Description
IPR004843 Calcineurin-like phosphoesterase domain, apaH type
IPR029052 Metallo-dependent phosphatase-like
IPR008139 Saposin B
IPR011001 Saposin-like
IPR011160 Sphingomyelin phosphodiesterase

UniProt Annotations

Entry Information

Gene Name
sphingomyelin phosphodiesterase 1, acid lysosomal
Protein Entry
ASM_HUMAN
UniProt ID
P17405
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=ASM-1; IsoId=P17405-1; Sequence=Displayed; Note=Most abundant (90%).; Name=2; Synonyms=ASM-2; IsoId=P17405-2; Sequence=VSP_000331, VSP_000332; Note=Intermediate abundance (10%).; Name=3; Synonyms=ASM-3; IsoId=P17405-3; Sequence=VSP_000333; Note=Low abundance (<1%).; Name=4; IsoId=P17405-4; Sequence=VSP_046964;
Catalytic Activity Sphingomyelin + H(2)O = N-acylsphingosine + phosphocholine.
Disease Niemann-Pick disease A (NPDA) [MIM
Disease Niemann-Pick disease B (NPDB) [MIM
Function Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. Isoform 2 and isoform 3 have lost catalytic activity.
Interaction P55210:CASP7; NbExp=6; IntAct=EBI-7095800, EBI-523958;
Miscellaneous There are two types of sphingomyelinases: ASM (acid), and NSM (neutral).
Polymorphism A common polymorphism arises from a variable number of hexanucleotide repeat sequence within the signal peptide region.
Similarity Belongs to the acid sphingomyelinase family.
Similarity Contains 1 saposin B-type domain.
Subcellular Location Lysosome.
Subunit Monomer.
Web Resource Name=Mendelian genes sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/SMPD1";

Identical and Related Proteins

Unique RefSeq proteins for LMP002843 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
56117840 RefSeq NP_000534 631 sphingomyelin phosphodiesterase isoform 1 precursor
56117840 RefSeq NP_001007594 631 sphingomyelin phosphodiesterase isoform 2 precursor

Identical Sequences to LMP002843 proteins

Reference Database Accession Length Protein Name
GI:56117840 EMBL CDM61370.1 631 unnamed protein product [Homo sapiens]
GI:56117840 EMBL CDM61370.1 631 unnamed protein product [Homo sapiens]
GI:56117840 GenBank EAW68728.1 631 sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase), isoform CRA_c [Homo sapiens]
GI:56117840 GenBank EAW68728.1 631 sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase), isoform CRA_c [Homo sapiens]
GI:56117840 GenBank ACP57215.1 631 Sequence 1344 from patent US 7482117
GI:56117840 GenBank ACP57215.1 631 Sequence 1344 from patent US 7482117
GI:56117840 GenBank ADS30812.1 631 Sequence 1344 from patent US 7781168
GI:56117840 GenBank ADS30812.1 631 Sequence 1344 from patent US 7781168
GI:56117840 GenBank AHD27534.1 631 Sequence 1 from patent US 8562993
GI:56117840 GenBank AHD27534.1 631 Sequence 1 from patent US 8562993

Related Sequences to LMP002843 proteins

Reference Database Accession Length Protein Name
GI:56117840 DBBJ BAD93012.1 664 sphingomyelin phosphodiesterase 1, acid lysosomal isoform 1 precursor variant, partial [Homo sapiens]
GI:56117840 DBBJ BAD93012.1 664 sphingomyelin phosphodiesterase 1, acid lysosomal isoform 1 precursor variant, partial [Homo sapiens]
GI:56117840 GenBank AAA75008.1 629 acid sphingomyelinase [Homo sapiens]
GI:56117840 GenBank AAA75008.1 629 acid sphingomyelinase [Homo sapiens]
GI:56117840 GenBank ACR92562.1 629 Sequence 1 from patent US 7527956
GI:56117840 GenBank ACR92562.1 629 Sequence 1 from patent US 7527956
GI:56117840 GenBank AGD75008.1 629 Sequence 1 from patent US 8349319
GI:56117840 GenBank AGD75008.1 629 Sequence 1 from patent US 8349319
GI:56117840 GenBank AHL64501.1 629 Sequence 1 from patent US 8658162
GI:56117840 GenBank AHL64501.1 629 Sequence 1 from patent US 8658162
GI:56117840 RefSeq NP_001007594.2 630 sphingomyelin phosphodiesterase isoform 2 precursor [Homo sapiens]
GI:56117840 RefSeq NP_001007594.2 630 sphingomyelin phosphodiesterase isoform 2 precursor [Homo sapiens]