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Protein

Sphingomyelin phosphodiesterase

Gene

SMPD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Converts sphingomyelin to ceramide (PubMed:1840600, PubMed:18815062, PubMed:27659707, PubMed:25920558). Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol.Curated4 Publications
Isoform 2 lacks residues that bind the cofactor Zn2+ and has no enzyme activity.Curated1 Publication
Isoform 3 lacks residues that bind the cofactor Zn2+ and has no enzyme activity.Curated1 Publication

Miscellaneous

There are two types of sphingomyelinases: ASM (acid), and NSM (neutral).

Caution

Variants Gln-294 and Val-485 have been originally reported as disease-causing mutations in NPDA and NPDB (PubMed:12369017, PubMed:15221801). These variants have been reclassified as benign polymorphisms (PubMed:23430512).3 Publications

Catalytic activityi

Sphingomyelin + H2O = N-acylsphingosine + phosphocholine.7 Publications

Cofactori

Zn2+1 PublicationNote: Binds 2 Zn2+ ions per subunit (PubMed:27349982, PubMed:27725636). Zn2+ is particularly important for enzyme activity at neutral pH (PubMed:8702487).3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi208Zinc 1Combined sources1 Publication1
Metal bindingi210Zinc 1; via tele nitrogenCombined sources1 Publication1
Metal bindingi280Zinc 1Combined sources1 Publication1
Metal bindingi280Zinc 2Combined sources1 Publication1
Metal bindingi320Zinc 2Combined sources1 Publication1
Metal bindingi427Zinc 2; via tele nitrogenCombined sources1 Publication1
Metal bindingi459Zinc 2; via pros nitrogenCombined sources1 Publication1
Metal bindingi461Zinc 1; via tele nitrogenCombined sources1 Publication1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosidase, Hydrolase
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-1660662 Glycosphingolipid metabolism
SIGNORiP17405

Chemistry databases

SwissLipidsiSLP:000001748

Names & Taxonomyi

Protein namesi
Recommended name:
Sphingomyelin phosphodiesterase (EC:3.1.4.126 Publications)
Alternative name(s):
Acid sphingomyelinase1 Publication
Short name:
aSMase
Gene namesi
Name:SMPD1
Synonyms:ASM
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000166311.9
HGNCiHGNC:11120 SMPD1
MIMi607608 gene
neXtProtiNX_P17405

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome, Secreted

Pathology & Biotechi

Involvement in diseasei

Niemann-Pick disease A (NPDA)18 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn early-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Niemann-Pick disease type A is a primarily neurodegenerative disorder characterized by onset within the first year of life, mental retardation, digestive disorders, failure to thrive, major hepatosplenomegaly, and severe neurologic symptoms. The severe neurological disorders and pulmonary infections lead to an early death, often around the age of four. Clinical features are variable. A phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B.
See also OMIM:257200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060877186P → L in NPDA; reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication1
Natural variantiVAR_068435211W → R in NPDA; results in less than 0.5% of wild-type activity. 1 Publication1
Natural variantiVAR_077311216L → R in NPDA. 1 Publication1
Natural variantiVAR_075324228C → R in NPDA. 1 Publication1
Natural variantiVAR_060883230R → H in NPDA; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication1
Natural variantiVAR_060885243A → V in NPDA; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication1
Natural variantiVAR_075325247G → D in NPDA; severe decrease in activity; the mutant is highly unstable. 1 Publication1
Natural variantiVAR_060888248E → K in NPDA. 1 Publication1
Natural variantiVAR_060889253D → E in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication1
Natural variantiVAR_068436253D → H in NPDA; results in loss of activity. 1 Publication1
Natural variantiVAR_077312255P → S in NPDA. 1 Publication1
Natural variantiVAR_060890280D → A in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication1
Natural variantiVAR_060893294Q → K in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 3 Publications1
Natural variantiVAR_005060304L → P in NPDA; in 23% of NPDA Ashkenazi Jewish patients; abolishes enzyme activity. 2 Publications1
Natural variantiVAR_060895315Y → H in NPDA. 1 Publication1
Natural variantiVAR_077314319G → R in NPDA. 1 Publication1
Natural variantiVAR_015288321H → Y in NPDA. 2 Publications1
Natural variantiVAR_077316324T → P in NPDA; unknown pathological significance. 1 Publication1
Natural variantiVAR_060898343L → P in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 2 Publications1
Natural variantiVAR_077317343L → R in NPDA. 1 Publication1
Natural variantiVAR_077318363L → R in NPDA; unknown pathological significance. 1 Publication1
Natural variantiVAR_060900369Y → C in NPDA. 2 Publications1
Natural variantiVAR_075327387C → R in NPDA. 1 Publication1
Natural variantiVAR_077319391N → H in NPDA. 1 Publication1
Natural variantiVAR_005063391N → T in NPDA. 1 Publication1
Natural variantiVAR_060904392Missing in NPDA. 1 Publication1
Natural variantiVAR_077320393W → R in NPDA; intermediate form. 1 Publication1
Natural variantiVAR_060906423H → R in NPDA. 1 Publication1
Natural variantiVAR_077321426G → S in NPDA. 1 Publication1
Natural variantiVAR_011388448Y → C in NPDA. 1 Publication1
Natural variantiVAR_060910452L → P in NPDA. 1 Publication1
Natural variantiVAR_015291465F → S in NPDA. 2 Publications1
Natural variantiVAR_060913469Y → S in NPDA. 1 Publication1
Natural variantiVAR_075329482Missing in NPDA; unknown pathological significance. 1 Publication1
Natural variantiVAR_060916484A → E in NPDA. 1 Publication1
Natural variantiVAR_077322494N → I in NPDA; intermediate form. 1 Publication1
Natural variantiVAR_060922498R → H in NPDA. 2 Publications1
Natural variantiVAR_005066498R → L in NPDA; in 32% of NPDA Ashkenazi Jewish patients; nearly abolishes enzyme activity. 3 Publications1
Natural variantiVAR_060926519Y → C in NPDA. 1 Publication1
Natural variantiVAR_015293539Y → H in NPDA. 2 Publications1
Natural variantiVAR_075331572F → L in NPDA; results in decreased activity; decreased stability. 1 Publication1
Natural variantiVAR_005067579G → S in NPDA; impairs enzyme activity; also in patients with an intermediate form. 2 Publications1
Natural variantiVAR_060931594Missing in NPDA. 1 Publication1
Niemann-Pick disease B (NPDB)24 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA late-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Clinical signs involve only visceral organs. The most constant sign is hepatosplenomegaly which can be associated with pulmonary symptoms. Patients remain free of neurologic manifestations. However, a phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B. In Niemann-Pick disease type B, onset of the first symptoms occurs in early childhood and patients can survive into adulthood.
See also OMIM:607616
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06087051D → V in NPDB; unknown pathological significance. 1 Publication1
Natural variantiVAR_07532291C → H in NPDB; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_06087194C → W in NPDB. 1 Publication1
Natural variantiVAR_060873132V → A in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains 13% residual enzyme activity. 1 Publication1
Natural variantiVAR_060874139L → P in NPDB. 1 Publication1
Natural variantiVAR_011387159C → R in NPDB. 2 Publications1
Natural variantiVAR_075323163L → P in NPDB. 1 Publication1
Natural variantiVAR_060875168G → R in NPDB; also in patients with an intermediate form. 2 Publications1
Natural variantiVAR_060876178I → N in NPDB. 1 Publication1
Natural variantiVAR_060878198A → P in NPDB. 1 Publication1
Natural variantiVAR_060879202R → C in NPDB. 1 Publication1
Natural variantiVAR_060880227L → M in NPDB. 1 Publication1
Natural variantiVAR_060881227L → P in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 2 Publications1
Natural variantiVAR_060884234G → D in NPDB. 1 Publication1
Natural variantiVAR_005058244G → R in NPDB. 1 Publication1
Natural variantiVAR_060886246W → C in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 2 Publications1
Natural variantiVAR_005059248E → Q in NPDB; 30% residual activity. 1 Publication1
Natural variantiVAR_075326258T → I in NPDB. 1 Publication1
Natural variantiVAR_077313282P → F in NPDB; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_060891283A → T in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 2 Publications1
Natural variantiVAR_060892291R → H in NPDB; also in patients with an intermediate form; unknown pathological significance. 2 Publications1
Natural variantiVAR_068437314V → M in NPDB; results in 20% of wild-type activity. 1 Publication1
Natural variantiVAR_077315320N → D in NPDB; unknown pathological significance. 1 Publication1
Natural variantiVAR_060896325P → A in NPDB; results in 1-4% of wild type activity. 3 Publications1
Natural variantiVAR_060897332P → R in NPDB. 2 Publications1
Natural variantiVAR_060899359A → D in NPDB; sphingomyelinase activity is decreased to 4% of wild-type activity; no effect on protein abundance; no effect on protein localization to lysosome; no effect on protein localization to extracellular space. 3 Publications1
Natural variantiVAR_015289373P → S in NPDB. 2 Publications1
Natural variantiVAR_060901378R → H in NPDB; reduces enzyme activity; some patients have a NPDA/NPDB intermediate phenotype. 4 Publications1
Natural variantiVAR_060902378R → L in NPDB. 1 Publication1
Natural variantiVAR_060903381S → P in NPDB. 1 Publication1
Natural variantiVAR_005062385N → S in NPDB. 1 Publication1
Natural variantiVAR_005064393W → G in NPDB; low sphingomyelin degradation rates. 1 Publication1
Natural variantiVAR_060905415A → V in NPDB. 1 Publication1
Natural variantiVAR_015290423H → Y in NPDB; abolishes enzyme activity. 2 Publications1
Natural variantiVAR_068438427H → R in NPDB; results in loss of activity; the patient also carries mutation H-228 that has sufficient activity to account for the Niemann-Pick disease type B phenotype. 1 Publication1
Natural variantiVAR_060907433C → R in NPDB. 1 Publication1
Natural variantiVAR_060908434L → P in NPDB. 1 Publication1
Natural variantiVAR_060909437W → C in NPDB. 1 Publication1
Natural variantiVAR_005065438S → R in NPDB. 1 Publication1
Natural variantiVAR_068439453A → D in NPDB. 1 Publication1
Natural variantiVAR_060911454A → V in NPDB. 1 Publication1
Natural variantiVAR_060912458G → D in NPDB. 1 Publication1
Natural variantiVAR_075328476R → Q in NPDB; unknown pathological significance. 1 Publication1
Natural variantiVAR_060914476R → W in NPDB; some patients have a NPDA/NPDB intermediate phenotype. 4 Publications1
Natural variantiVAR_060915482F → L in NPDB. 1 Publication1
Natural variantiVAR_060918488T → A in NPDB. 1 Publication1
Natural variantiVAR_060919490Y → N in NPDB. 1 Publication1
Natural variantiVAR_075330492G → S in NPDB. 1 Publication1
Natural variantiVAR_060920496G → S in NPDB. 1 Publication1
Natural variantiVAR_060921498R → C in NPDB. 1 Publication1
Natural variantiVAR_060924516H → Q in NPDB. 1 Publication1
Natural variantiVAR_060925517E → V in NPDB. 1 Publication1
Natural variantiVAR_077324520I → L in NPDB. 1 Publication1
Natural variantiVAR_068440522N → S in NPDB. 1 Publication1
Natural variantiVAR_068441525Q → H in NPDB; results in 64% of wild-type activity. 1 Publication1
Natural variantiVAR_077325549N → K in NPDB. 1 Publication1
Natural variantiVAR_060928551L → P in NPDB. 2 Publications1
Natural variantiVAR_060929565D → Y in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains 6.8% residual enzyme activity. 1 Publication1
Natural variantiVAR_075332577H → D in NPDB; unknown pathological significance. 1 Publication1
Natural variantiVAR_060930578K → N in NPDB. 1 Publication1
Natural variantiVAR_075333598Q → R in NPDB. 1 Publication1
Natural variantiVAR_075334599L → F in NPDB; unknown pathological significance. 1 Publication1
Natural variantiVAR_060933602R → P in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains very low enzyme activity. 2 Publications1
Natural variantiVAR_075335610R → C in NPDB; unknown pathological significance. 1 Publication1
Natural variantiVAR_005068610Missing in NPDB; nearly abolishes enzyme activity; some patients have a NPDA/NPDB intermediate phenotype. 6 Publications1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Niemann-Pick disease

Organism-specific databases

DisGeNETi6609
GeneReviewsiSMPD1
MalaCardsiSMPD1
MIMi257200 phenotype
607616 phenotype
Orphaneti77292 Niemann-Pick disease type A
77293 Niemann-Pick disease type B
PharmGKBiPA35969

Chemistry databases

ChEMBLiCHEMBL2760
DrugBankiDB00381 Amlodipine
DB00477 Chlorpromazine
DB01151 Desipramine

Polymorphism and mutation databases

BioMutaiSMPD1
DMDMi224471897

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 46Add BLAST46
ChainiPRO_000000232347 – 631Sphingomyelin phosphodiesteraseAdd BLAST585

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi88N-linked (GlcNAc...) asparaginePROSITE-ProRule annotationCombined sources2 Publications1
Disulfide bondi91 ↔ 167PROSITE-ProRule annotationCombined sources1 Publication
Disulfide bondi94 ↔ 159PROSITE-ProRule annotationCombined sources1 Publication
Disulfide bondi122 ↔ 133PROSITE-ProRule annotationCombined sources2 Publications
Glycosylationi177N-linked (GlcNAc...) asparaginePROSITE-ProRule annotationCombined sources2 Publications1
Disulfide bondi223 ↔ 228PROSITE-ProRule annotationCombined sources2 Publications
Disulfide bondi229 ↔ 252PROSITE-ProRule annotationCombined sources2 Publications
Glycosylationi337N-linked (GlcNAc...) asparaginePROSITE-ProRule annotationCombined sources2 Publications1
Disulfide bondi387 ↔ 433PROSITE-ProRule annotationCombined sources2 Publications
Glycosylationi397N-linked (GlcNAc...) asparaginePROSITE-ProRule annotationCombined sources2 Publications1
Glycosylationi505N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Glycosylationi522N-linked (GlcNAc...) asparaginePROSITE-ProRule annotationCombined sources2 Publications1
Disulfide bondi586 ↔ 590PROSITE-ProRule annotationCombined sources2 Publications
Disulfide bondi596 ↔ 609PROSITE-ProRule annotationCombined sources2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP17405
PaxDbiP17405
PeptideAtlasiP17405
PRIDEiP17405
ProteomicsDBi53470
53471 [P17405-2]
53472 [P17405-3]

PTM databases

iPTMnetiP17405
PhosphoSitePlusiP17405

Expressioni

Gene expression databases

BgeeiENSG00000166311 Expressed in 212 organ(s), highest expression level in right lobe of liver
CleanExiHS_SMPD1
ExpressionAtlasiP17405 baseline and differential
GenevisibleiP17405 HS

Interactioni

Subunit structurei

Monomer.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CASP7P552106EBI-7095800,EBI-523958

Protein-protein interaction databases

BioGridi112493, 14 interactors
IntActiP17405, 7 interactors
MINTiP17405
STRINGi9606.ENSP00000340409

Chemistry databases

BindingDBiP17405

Structurei

Secondary structure

1631
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP17405
SMRiP17405
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini87 – 171Saposin B-typePROSITE-ProRule annotationAdd BLAST85

Sequence similaritiesi

Belongs to the acid sphingomyelinase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3770 Eukaryota
ENOG410YYPB LUCA
HOVERGENiHBG004288
InParanoidiP17405
KOiK12350
OrthoDBiEOG091G03M6
PhylomeDBiP17405
TreeFamiTF313674

Family and domain databases

Gene3Di3.60.21.10, 1 hit
InterProiView protein in InterPro
IPR004843 Calcineurin-like_PHP_ApaH
IPR029052 Metallo-depent_PP-like
IPR011001 Saposin-like
IPR008139 SaposinB_dom
IPR011160 Sphingomy_PDE
PfamiView protein in Pfam
PF00149 Metallophos, 1 hit
PIRSFiPIRSF000948 Sphingomy_PDE, 1 hit
SMARTiView protein in SMART
SM00741 SapB, 1 hit
SUPFAMiSSF47862 SSF47862, 1 hit
PROSITEiView protein in PROSITE
PS50015 SAP_B, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: P17405-1) [UniParc]FASTAAdd to basket
Also known as: ASM-1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPRYGASLRQ SCPRSGREQG QDGTAGAPGL LWMGLVLALA LALALALALS
60 70 80 90 100
DSRVLWAPAE AHPLSPQGHP ARLHRIVPRL RDVFGWGNLT CPICKGLFTA
110 120 130 140 150
INLGLKKEPN VARVGSVAIK LCNLLKIAPP AVCQSIVHLF EDDMVEVWRR
160 170 180 190 200
SVLSPSEACG LLLGSTCGHW DIFSSWNISL PTVPKPPPKP PSPPAPGAPV
210 220 230 240 250
SRILFLTDLH WDHDYLEGTD PDCADPLCCR RGSGLPPASR PGAGYWGEYS
260 270 280 290 300
KCDLPLRTLE SLLSGLGPAG PFDMVYWTGD IPAHDVWHQT RQDQLRALTT
310 320 330 340 350
VTALVRKFLG PVPVYPAVGN HESTPVNSFP PPFIEGNHSS RWLYEAMAKA
360 370 380 390 400
WEPWLPAEAL RTLRIGGFYA LSPYPGLRLI SLNMNFCSRE NFWLLINSTD
410 420 430 440 450
PAGQLQWLVG ELQAAEDRGD KVHIIGHIPP GHCLKSWSWN YYRIVARYEN
460 470 480 490 500
TLAAQFFGHT HVDEFEVFYD EETLSRPLAV AFLAPSATTY IGLNPGYRVY
510 520 530 540 550
QIDGNYSGSS HVVLDHETYI LNLTQANIPG AIPHWQLLYR ARETYGLPNT
560 570 580 590 600
LPTAWHNLVY RMRGDMQLFQ TFWFLYHKGH PPSEPCGTPC RLATLCAQLS
610 620 630
ARADSPALCR HLMPDGSLPE AQSLWPRPLF C
Note: Most abundant (90%).
Length:631
Mass (Da):69,936
Last modified:September 12, 2018 - v5
Checksum:iF229709F6A9B0E9E
GO
Isoform 2 (identifier: P17405-2) [UniParc]FASTAAdd to basket
Also known as: ASM-2

The sequence of this isoform differs from the canonical sequence as follows:
     365-376: IGGFYALSPYPG → YLSSVETQEGKR
     377-420: Missing.

Note: Intermediate abundance (10%).
Show »
Length:587
Mass (Da):65,074
Checksum:i6CC3B78ECC26F486
GO
Isoform 3 (identifier: P17405-3) [UniParc]FASTAAdd to basket
Also known as: ASM-3

The sequence of this isoform differs from the canonical sequence as follows:
     365-420: Missing.

Note: Low abundance (<1%).
Show »
Length:575
Mass (Da):63,695
Checksum:i1C5A1828208B388D
GO
Isoform 4 (identifier: P17405-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     106-106: Missing.

Show »
Length:630
Mass (Da):69,808
Checksum:i14F8DDFDAB36229A
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PQT3E9PQT3_HUMAN
Sphingomyelin phosphodiesterase
SMPD1
402Annotation score:
G3V1E1G3V1E1_HUMAN
Sphingomyelin phosphodiesterase 1, ...
SMPD1 hCG_24080
366Annotation score:
E9PPK6E9PPK6_HUMAN
Sphingomyelin phosphodiesterase
SMPD1
171Annotation score:
H0YEP5H0YEP5_HUMAN
Sphingomyelin phosphodiesterase
SMPD1
317Annotation score:
E9PL59E9PL59_HUMAN
Sphingomyelin phosphodiesterase
SMPD1
52Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti270G → D in BAF85077 (PubMed:14702039).Curated1

Polymorphismi

A common polymorphism arises from a variable number of hexanucleotide repeat sequence within the signal peptide region.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08064136 – 39Missing 2 PublicationsCorresponds to variant dbSNP:rs550365194Ensembl.4
Natural variantiVAR_03819136V → A Polymorphism; does not affect enzymatic activity. 3 PublicationsCorresponds to variant dbSNP:rs1050228EnsemblClinVar.1
Natural variantiVAR_08064248 – 49Missing 4 PublicationsCorresponds to variant dbSNP:rs3838786Ensembl.2
Natural variantiVAR_06087051D → V in NPDB; unknown pathological significance. 1 Publication1
Natural variantiVAR_07532291C → H in NPDB; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_06087194C → W in NPDB. 1 Publication1
Natural variantiVAR_060872105L → P in NPDA and NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains very low enzyme activity. 5 Publications1
Natural variantiVAR_060873132V → A in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains 13% residual enzyme activity. 1 Publication1
Natural variantiVAR_060874139L → P in NPDB. 1 Publication1
Natural variantiVAR_011387159C → R in NPDB. 2 Publications1
Natural variantiVAR_075323163L → P in NPDB. 1 Publication1
Natural variantiVAR_060875168G → R in NPDB; also in patients with an intermediate form. 2 Publications1
Natural variantiVAR_060876178I → N in NPDB. 1 Publication1
Natural variantiVAR_060877186P → L in NPDA; reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication1
Natural variantiVAR_060878198A → P in NPDB. 1 Publication1
Natural variantiVAR_060879202R → C in NPDB. 1 Publication1
Natural variantiVAR_068435211W → R in NPDA; results in less than 0.5% of wild-type activity. 1 Publication1
Natural variantiVAR_077311216L → R in NPDA. 1 Publication1
Natural variantiVAR_060880227L → M in NPDB. 1 Publication1
Natural variantiVAR_060881227L → P in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 2 Publications1
Natural variantiVAR_075324228C → R in NPDA. 1 Publication1
Natural variantiVAR_060882230R → C in NPDB and NPDA; some patients have a NPDA/NPDB intermediate phenotype. 5 Publications1
Natural variantiVAR_060883230R → H in NPDA; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication1
Natural variantiVAR_060884234G → D in NPDB. 1 Publication1
Natural variantiVAR_060885243A → V in NPDA; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication1
Natural variantiVAR_005058244G → R in NPDB. 1 Publication1
Natural variantiVAR_060886246W → C in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 2 Publications1
Natural variantiVAR_075325247G → D in NPDA; severe decrease in activity; the mutant is highly unstable. 1 Publication1
Natural variantiVAR_060887247G → S in NPDA and NPDB. 4 Publications1
Natural variantiVAR_060888248E → K in NPDA. 1 Publication1
Natural variantiVAR_005059248E → Q in NPDB; 30% residual activity. 1 Publication1
Natural variantiVAR_015287250S → R in NPDA and NPDB; also found in patients with an intermediate form. 4 Publications1
Natural variantiVAR_060889253D → E in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication1
Natural variantiVAR_068436253D → H in NPDA; results in loss of activity. 1 Publication1
Natural variantiVAR_077312255P → S in NPDA. 1 Publication1
Natural variantiVAR_075326258T → I in NPDB. 1 Publication1
Natural variantiVAR_060890280D → A in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication1
Natural variantiVAR_077313282P → F in NPDB; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_060891283A → T in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 2 Publications1
Natural variantiVAR_060892291R → H in NPDB; also in patients with an intermediate form; unknown pathological significance. 2 Publications1
Natural variantiVAR_060893294Q → K in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 3 Publications1
Natural variantiVAR_060894296R → Q1 PublicationCorresponds to variant dbSNP:rs35824453EnsemblClinVar.1
Natural variantiVAR_005060304L → P in NPDA; in 23% of NPDA Ashkenazi Jewish patients; abolishes enzyme activity. 2 Publications1
Natural variantiVAR_068437314V → M in NPDB; results in 20% of wild-type activity. 1 Publication1
Natural variantiVAR_060895