SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P17405

- ASM_HUMAN

UniProt

P17405 - ASM_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Sphingomyelin phosphodiesterase

Gene
SMPD1, ASM
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.

Catalytic activityi

Sphingomyelin + H2O = N-acylsphingosine + phosphocholine.

GO - Molecular functioni

  1. hydrolase activity, acting on glycosyl bonds Source: UniProtKB-KW
  2. protein binding Source: IntAct
  3. sphingomyelin phosphodiesterase activity Source: ProtInc

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. ceramide biosynthetic process Source: BHF-UCL
  3. glycosphingolipid metabolic process Source: Reactome
  4. negative regulation of MAP kinase activity Source: BHF-UCL
  5. nervous system development Source: ProtInc
  6. positive regulation of apoptotic process Source: Ensembl
  7. positive regulation of protein dephosphorylation Source: BHF-UCL
  8. response to cocaine Source: Ensembl
  9. response to drug Source: Ensembl
  10. signal transduction Source: ProtInc
  11. small molecule metabolic process Source: Reactome
  12. sphingolipid metabolic process Source: Reactome
  13. sphingomyelin catabolic process Source: InterPro
  14. sphingomyelin metabolic process Source: ProtInc
  15. termination of signal transduction Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Enzyme and pathway databases

ReactomeiREACT_116105. Glycosphingolipid metabolism.

Names & Taxonomyi

Protein namesi
Recommended name:
Sphingomyelin phosphodiesterase (EC:3.1.4.12)
Alternative name(s):
Acid sphingomyelinase
Short name:
aSMase
Gene namesi
Name:SMPD1
Synonyms:ASM
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:11120. SMPD1.

Subcellular locationi

GO - Cellular componenti

  1. extracellular space Source: Ensembl
  2. extracellular vesicular exosome Source: UniProt
  3. lamellar body Source: Ensembl
  4. lysosomal lumen Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Niemann-Pick disease A (NPDA) [MIM:257200]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.12 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti103 – 1031L → P in NPDA and NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains very low enzyme activity. 3 Publications
VAR_060872
Natural varianti184 – 1841P → L in NPDA/NPDB; intermediate form. 1 Publication
VAR_060877
Natural varianti209 – 2091W → R in NPDA; results in less than 0.5% of wild-type activity. 1 Publication
VAR_068435
Natural varianti228 – 2281R → H in NPDA/NPDB; intermediate form. 1 Publication
VAR_060883
Natural varianti241 – 2411A → V in NPDA/NPDB; intermediate form. 1 Publication
VAR_060885
Natural varianti245 – 2451G → S in NPDA and NPDB. 3 Publications
VAR_060887
Natural varianti246 – 2461E → K in NPDA. 1 Publication
VAR_060888
Natural varianti248 – 2481S → R in NPDA and NPDB; also found in patients with an intermediate form. 3 Publications
VAR_015287
Natural varianti251 – 2511D → E in NPDA/NPDB; intermediate form. 1 Publication
VAR_060889
Natural varianti251 – 2511D → H in NPDA; results in loss of activity. 1 Publication
VAR_068436
Natural varianti278 – 2781D → A in NPDA/NPDB; intermediate form. 1 Publication
VAR_060890
Natural varianti292 – 2921Q → K in NPDA/NPDB; intermediate form. 3 Publications
VAR_060893
Natural varianti294 – 2941R → Q in NPDA. 1 Publication
VAR_060894
Natural varianti302 – 3021L → P in NPDA; in 23% of NPDA Ashkenazi Jewish patients. 1 Publication
VAR_005060
Natural varianti313 – 3131Y → H in NPDA. 1 Publication
VAR_060895
Natural varianti319 – 3191H → Y in NPDA. 1 Publication
VAR_015288
Natural varianti341 – 3411L → P in NPDA/NPDB; intermediate form. 2 Publications
VAR_060898
Natural varianti367 – 3671Y → C in NPDA. 1 Publication
VAR_060900
Natural varianti382 – 3821M → I in NPDA and NPDB. 2 Publications
VAR_005061
Natural varianti389 – 3891N → T in NPDA. 1 Publication
VAR_005063
Natural varianti390 – 3901Missing in NPDA. 1 Publication
VAR_060904
Natural varianti421 – 4211H → R in NPDA. 1 Publication
VAR_060906
Natural varianti446 – 4461Y → C in NPDA. 1 Publication
VAR_011388
Natural varianti450 – 4501L → P in NPDA. 1 Publication
VAR_060910
Natural varianti463 – 4631F → S in NPDA. 1 Publication
VAR_015291
Natural varianti467 – 4671Y → S in NPDA. 1 Publication
VAR_060913
Natural varianti475 – 4751P → L in NPDA and NPDB. 3 Publications
VAR_015292
Natural varianti482 – 4821A → E in NPDA. 1 Publication
VAR_060916
Natural varianti496 – 4961R → H in NPDA. 1 Publication
VAR_060922
Natural varianti496 – 4961R → L in NPDA; in 32% of NPDA Ashkenazi Jewish patients. 2 Publications
VAR_005066
Natural varianti517 – 5171Y → C in NPDA. 1 Publication
VAR_060926
Natural varianti537 – 5371Y → H in NPDA. 1 Publication
VAR_015293
Natural varianti577 – 5771G → S in NPDA; also in patients with an intermediate form. 2 Publications
VAR_005067
Natural varianti592 – 5921Missing in NPDA. 1 Publication
VAR_060931
Niemann-Pick disease B (NPDB) [MIM:607616]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.14 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti49 – 491D → V in NPDB. 1 Publication
VAR_060870
Natural varianti92 – 921C → W in NPDB. 1 Publication
VAR_060871
Natural varianti103 – 1031L → P in NPDA and NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains very low enzyme activity. 3 Publications
VAR_060872
Natural varianti130 – 1301V → A in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains 13% residual enzyme activity. 1 Publication
VAR_060873
Natural varianti137 – 1371L → P in NPDB. 1 Publication
VAR_060874
Natural varianti157 – 1571C → R in NPDB; seems to be less active. 2 Publications
VAR_011387
Natural varianti166 – 1661G → R in NPDB; also in patients with an intermediate form. 2 Publications
VAR_060875
Natural varianti176 – 1761I → N in NPDB. 1 Publication
VAR_060876
Natural varianti184 – 1841P → L in NPDA/NPDB; intermediate form. 1 Publication
VAR_060877
Natural varianti196 – 1961A → P in NPDB. 1 Publication
VAR_060878
Natural varianti200 – 2001R → C in NPDB. 1 Publication
VAR_060879
Natural varianti225 – 2251L → M in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 1 Publication
VAR_060880
Natural varianti225 – 2251L → P in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 2 Publications
VAR_060881
Natural varianti228 – 2281R → C in NPDB. 2 Publications
VAR_060882
Natural varianti228 – 2281R → H in NPDA/NPDB; intermediate form. 1 Publication
VAR_060883
Natural varianti232 – 2321G → D in NPDB. 1 Publication
VAR_060884
Natural varianti241 – 2411A → V in NPDA/NPDB; intermediate form. 1 Publication
VAR_060885
Natural varianti242 – 2421G → R in NPDB. 1 Publication
VAR_005058
Natural varianti244 – 2441W → C in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 2 Publications
VAR_060886
Natural varianti245 – 2451G → S in NPDA and NPDB. 3 Publications
VAR_060887
Natural varianti246 – 2461E → Q in NPDB; 30% residual activity. 1 Publication
VAR_005059
Natural varianti248 – 2481S → R in NPDA and NPDB; also found in patients with an intermediate form. 3 Publications
VAR_015287
Natural varianti251 – 2511D → E in NPDA/NPDB; intermediate form. 1 Publication
VAR_060889
Natural varianti278 – 2781D → A in NPDA/NPDB; intermediate form. 1 Publication
VAR_060890
Natural varianti281 – 2811A → T in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 2 Publications
VAR_060891
Natural varianti289 – 2891R → H in NPDB; also in patients with an intermediate form. 2 Publications
VAR_060892
Natural varianti292 – 2921Q → K in NPDA/NPDB; intermediate form. 3 Publications
VAR_060893
Natural varianti312 – 3121V → M in NPDB; results in 20% of wild-type activity. 1 Publication
VAR_068437
Natural varianti323 – 3231P → A in NPDB. 1 Publication
VAR_060896
Natural varianti330 – 3301P → R in NPDB. 2 Publications
VAR_060897
Natural varianti341 – 3411L → P in NPDA/NPDB; intermediate form. 2 Publications
VAR_060898
Natural varianti357 – 3571A → D in NPDB. 1 Publication
VAR_060899
Natural varianti371 – 3711P → S in NPDB. 1 Publication
VAR_015289
Natural varianti376 – 3761R → H in NPDB; also found in a patient with an intermediate form. 3 Publications
VAR_060901
Natural varianti376 – 3761R → L in NPDB. 1 Publication
VAR_060902
Natural varianti379 – 3791S → P in NPDB. 1 Publication
VAR_060903
Natural varianti382 – 3821M → I in NPDA and NPDB. 2 Publications
VAR_005061
Natural varianti383 – 3831N → S in NPDB. 1 Publication
VAR_005062
Natural varianti391 – 3911W → G in NPDB; low sphingomyelin degradation rates. 1 Publication
VAR_005064
Natural varianti413 – 4131A → V in NPDB. 1 Publication
VAR_060905
Natural varianti421 – 4211H → Y in NPDB. 1 Publication
VAR_015290
Natural varianti425 – 4251H → 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 Publication
VAR_068438
Natural varianti431 – 4311C → R in NPDB. 1 Publication
VAR_060907
Natural varianti432 – 4321L → P in NPDB. 1 Publication
VAR_060908
Natural varianti435 – 4351W → C in NPDB. 1 Publication
VAR_060909
Natural varianti436 – 4361S → R in NPDB. 1 Publication
VAR_005065
Natural varianti451 – 4511A → D in NPDB. 1 Publication
VAR_068439
Natural varianti452 – 4521A → V in NPDB. 1 Publication
VAR_060911
Natural varianti456 – 4561G → D in NPDB. 1 Publication
VAR_060912
Natural varianti474 – 4741R → W in NPDB; also in a patient with an intermediate form. 3 Publications
VAR_060914
Natural varianti475 – 4751P → L in NPDA and NPDB. 3 Publications
VAR_015292
Natural varianti480 – 4801F → L in NPDB. 1 Publication
VAR_060915
Natural varianti485 – 4851A → V in NPDB. 1 Publication
VAR_060917
Natural varianti486 – 4861T → A in NPDB. 1 Publication
VAR_060918
Natural varianti488 – 4881Y → N in NPDB. 1 Publication
VAR_060919
Natural varianti494 – 4941G → S in NPDB. 1 Publication
VAR_060920
Natural varianti496 – 4961R → C in NPDB. 1 Publication
VAR_060921
Natural varianti514 – 5141H → Q in NPDB. 1 Publication
VAR_060924
Natural varianti515 – 5151E → V in NPDB. 1 Publication
VAR_060925
Natural varianti520 – 5201N → S in NPDB. 1 Publication
VAR_068440
Natural varianti523 – 5231Q → H in NPDB; results in 64% of wild-type activity. 1 Publication
VAR_068441
Natural varianti533 – 5331W → R in NPDB; also in patients with an intermediate form. 2 Publications
VAR_060927
Natural varianti549 – 5491L → P in NPDB. 1 Publication
VAR_060928
Natural varianti563 – 5631D → Y in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains 6.8% residual enzyme activity. 1 Publication
VAR_060929
Natural varianti576 – 5761K → N in NPDB. 1 Publication
VAR_060930
Natural varianti600 – 6001R → H in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains about 10% residual enzyme activity. 2 Publications
VAR_060932
Natural varianti600 – 6001R → P in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains very low enzyme activity. 2 Publications
VAR_060933
Natural varianti608 – 6081Missing in NPDB; prevalent among NPDB patients from the North African Maghreb region. 3 Publications
VAR_005068

Keywords - Diseasei

Disease mutation, Neurodegeneration, Niemann-Pick disease

Organism-specific databases

MIMi257200. phenotype.
607616. phenotype.
Orphaneti77292. Niemann-Pick disease type A.
77293. Niemann-Pick disease type B.
PharmGKBiPA35969.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 4646Add
BLAST
Chaini47 – 629583Sphingomyelin phosphodiesterasePRO_0000002323Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi86 – 861N-linked (GlcNAc...)1 Publication
Disulfide bondi89 ↔ 165 By similarity
Disulfide bondi92 ↔ 157 By similarity
Disulfide bondi120 ↔ 1311 Publication
Glycosylationi175 – 1751N-linked (GlcNAc...)1 Publication
Disulfide bondi221 ↔ 2261 Publication
Disulfide bondi227 ↔ 2501 Publication
Glycosylationi335 – 3351N-linked (GlcNAc...)1 Publication
Disulfide bondi385 ↔ 4311 Publication
Glycosylationi395 – 3951N-linked (GlcNAc...)1 Publication
Glycosylationi520 – 5201N-linked (GlcNAc...)1 Publication
Disulfide bondi584 ↔ 5881 Publication
Disulfide bondi594 ↔ 6071 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP17405.
PaxDbiP17405.
PRIDEiP17405.

PTM databases

PhosphoSiteiP17405.

Expressioni

Gene expression databases

ArrayExpressiP17405.
BgeeiP17405.
CleanExiHS_SMPD1.
GenevestigatoriP17405.

Organism-specific databases

HPAiHPA001823.

Interactioni

Subunit structurei

Monomer.

Binary interactionsi

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

Protein-protein interaction databases

BioGridi112493. 5 interactions.
IntActiP17405. 7 interactions.
MINTiMINT-3008689.
STRINGi9606.ENSP00000340409.

Structurei

3D structure databases

ProteinModelPortaliP17405.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini85 – 16985Saposin B-typeAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG303902.
HOVERGENiHBG004288.
InParanoidiP17405.
KOiK12350.
OrthoDBiEOG79PJP3.
PhylomeDBiP17405.
TreeFamiTF313674.

Family and domain databases

Gene3Di1.10.225.10. 1 hit.
3.60.21.10. 1 hit.
InterProiIPR004843. Calcineurin-like_PHP_apaH.
IPR029052. Metallo-depent_PP-like.
IPR011001. Saposin-like.
IPR008139. SaposinB.
IPR011160. Sphingomy_PDE.
[Graphical view]
PfamiPF00149. Metallophos. 1 hit.
[Graphical view]
PIRSFiPIRSF000948. Sphingomy_PDE. 1 hit.
SMARTiSM00741. SapB. 1 hit.
[Graphical view]
SUPFAMiSSF47862. SSF47862. 1 hit.
SSF56300. SSF56300. 1 hit.
PROSITEiPS50015. SAP_B. 1 hit.
[Graphical view]

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. Align

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

MPRYGASLRQ SCPRSGREQG QDGTAGAPGL LWMGLVLALA LALALALSDS    50
RVLWAPAEAH PLSPQGHPAR LHRIVPRLRD VFGWGNLTCP ICKGLFTAIN 100
LGLKKEPNVA RVGSVAIKLC NLLKIAPPAV CQSIVHLFED DMVEVWRRSV 150
LSPSEACGLL LGSTCGHWDI FSSWNISLPT VPKPPPKPPS PPAPGAPVSR 200
ILFLTDLHWD HDYLEGTDPD CADPLCCRRG SGLPPASRPG AGYWGEYSKC 250
DLPLRTLESL LSGLGPAGPF DMVYWTGDIP AHDVWHQTRQ DQLRALTTVT 300
ALVRKFLGPV PVYPAVGNHE STPVNSFPPP FIEGNHSSRW LYEAMAKAWE 350
PWLPAEALRT LRIGGFYALS PYPGLRLISL NMNFCSRENF WLLINSTDPA 400
GQLQWLVGEL QAAEDRGDKV HIIGHIPPGH CLKSWSWNYY RIVARYENTL 450
AAQFFGHTHV DEFEVFYDEE TLSRPLAVAF LAPSATTYIG LNPGYRVYQI 500
DGNYSGSSHV VLDHETYILN LTQANIPGAI PHWQLLYRAR ETYGLPNTLP 550
TAWHNLVYRM RGDMQLFQTF WFLYHKGHPP SEPCGTPCRL ATLCAQLSAR 600
ADSPALCRHL MPDGSLPEAQ SLWPRPLFC 629

Note: Most abundant (90%).

Length:629
Mass (Da):69,752
Last modified:March 3, 2009 - v4
Checksum:iC9888CB8359C42AC
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:
     363-374: IGGFYALSPYPG → YLSSVETQEGKR
     375-418: Missing.

Note: Intermediate abundance (10%).

Show »
Length:585
Mass (Da):64,889
Checksum:iA5FC9FE28C0D3E42
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:
     363-418: Missing.

Note: Low abundance (<1%).

Show »
Length:573
Mass (Da):63,511
Checksum:i093B405E0C0AE061
GO
Isoform 4 (identifier: P17405-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     104-104: Missing.

Show »
Length:628
Mass (Da):69,624
Checksum:i3504FAA2AC7A10B2
GO

Polymorphismi

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti36 – 361V → A.1 Publication
Corresponds to variant rs1050228 [ dbSNP | Ensembl ].
VAR_038191
Natural varianti49 – 491D → V in NPDB. 1 Publication
VAR_060870
Natural varianti92 – 921C → W in NPDB. 1 Publication
VAR_060871
Natural varianti103 – 1031L → P in NPDA and NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains very low enzyme activity. 3 Publications
VAR_060872
Natural varianti130 – 1301V → A in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains 13% residual enzyme activity. 1 Publication
VAR_060873
Natural varianti137 – 1371L → P in NPDB. 1 Publication
VAR_060874
Natural varianti157 – 1571C → R in NPDB; seems to be less active. 2 Publications
VAR_011387
Natural varianti166 – 1661G → R in NPDB; also in patients with an intermediate form. 2 Publications
VAR_060875
Natural varianti176 – 1761I → N in NPDB. 1 Publication
VAR_060876
Natural varianti184 – 1841P → L in NPDA/NPDB; intermediate form. 1 Publication
VAR_060877
Natural varianti196 – 1961A → P in NPDB. 1 Publication
VAR_060878
Natural varianti200 – 2001R → C in NPDB. 1 Publication
VAR_060879
Natural varianti209 – 2091W → R in NPDA; results in less than 0.5% of wild-type activity. 1 Publication
VAR_068435
Natural varianti225 – 2251L → M in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 1 Publication
VAR_060880
Natural varianti225 – 2251L → P in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 2 Publications
VAR_060881
Natural varianti228 – 2281R → C in NPDB. 2 Publications
VAR_060882
Natural varianti228 – 2281R → H in NPDA/NPDB; intermediate form. 1 Publication
VAR_060883
Natural varianti232 – 2321G → D in NPDB. 1 Publication
VAR_060884
Natural varianti241 – 2411A → V in NPDA/NPDB; intermediate form. 1 Publication
VAR_060885
Natural varianti242 – 2421G → R in NPDB. 1 Publication
VAR_005058
Natural varianti244 – 2441W → C in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 2 Publications
VAR_060886
Natural varianti245 – 2451G → S in NPDA and NPDB. 3 Publications
VAR_060887
Natural varianti246 – 2461E → K in NPDA. 1 Publication
VAR_060888
Natural varianti246 – 2461E → Q in NPDB; 30% residual activity. 1 Publication
VAR_005059
Natural varianti248 – 2481S → R in NPDA and NPDB; also found in patients with an intermediate form. 3 Publications
VAR_015287
Natural varianti251 – 2511D → E in NPDA/NPDB; intermediate form. 1 Publication
VAR_060889
Natural varianti251 – 2511D → H in NPDA; results in loss of activity. 1 Publication
VAR_068436
Natural varianti278 – 2781D → A in NPDA/NPDB; intermediate form. 1 Publication
VAR_060890
Natural varianti281 – 2811A → T in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 2 Publications
VAR_060891
Natural varianti289 – 2891R → H in NPDB; also in patients with an intermediate form. 2 Publications
VAR_060892
Natural varianti292 – 2921Q → K in NPDA/NPDB; intermediate form. 3 Publications
VAR_060893
Natural varianti294 – 2941R → Q in NPDA. 1 Publication
VAR_060894
Natural varianti302 – 3021L → P in NPDA; in 23% of NPDA Ashkenazi Jewish patients. 1 Publication
VAR_005060
Natural varianti312 – 3121V → M in NPDB; results in 20% of wild-type activity. 1 Publication
VAR_068437
Natural varianti313 – 3131Y → H in NPDA. 1 Publication
VAR_060895
Natural varianti316 – 3161V → E.
Corresponds to variant rs12575136 [ dbSNP | Ensembl ].
VAR_054642
Natural varianti319 – 3191H → Y in NPDA. 1 Publication
VAR_015288
Natural varianti322 – 3221T → I.2 Publications
Corresponds to variant rs1050233 [ dbSNP | Ensembl ].
VAR_054643
Natural varianti323 – 3231P → A in NPDB. 1 Publication
VAR_060896
Natural varianti330 – 3301P → R in NPDB. 2 Publications
VAR_060897
Natural varianti341 – 3411L → P in NPDA/NPDB; intermediate form. 2 Publications
VAR_060898
Natural varianti357 – 3571A → D in NPDB. 1 Publication
VAR_060899
Natural varianti367 – 3671Y → C in NPDA. 1 Publication
VAR_060900
Natural varianti371 – 3711P → S in NPDB. 1 Publication
VAR_015289
Natural varianti376 – 3761R → H in NPDB; also found in a patient with an intermediate form. 3 Publications
VAR_060901
Natural varianti376 – 3761R → L in NPDB. 1 Publication
VAR_060902
Natural varianti379 – 3791S → P in NPDB. 1 Publication
VAR_060903
Natural varianti382 – 3821M → I in NPDA and NPDB. 2 Publications
VAR_005061
Natural varianti383 – 3831N → S in NPDB. 1 Publication
VAR_005062
Natural varianti389 – 3891N → T in NPDA. 1 Publication
VAR_005063
Natural varianti390 – 3901Missing in NPDA. 1 Publication
VAR_060904
Natural varianti391 – 3911W → G in NPDB; low sphingomyelin degradation rates. 1 Publication
VAR_005064
Natural varianti413 – 4131A → V in NPDB. 1 Publication
VAR_060905
Natural varianti421 – 4211H → R in NPDA. 1 Publication
VAR_060906
Natural varianti421 – 4211H → Y in NPDB. 1 Publication
VAR_015290
Natural varianti425 – 4251H → 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 Publication
VAR_068438
Natural varianti431 – 4311C → R in NPDB. 1 Publication
VAR_060907
Natural varianti432 – 4321L → P in NPDB. 1 Publication
VAR_060908
Natural varianti435 – 4351W → C in NPDB. 1 Publication
VAR_060909
Natural varianti436 – 4361S → R in NPDB. 1 Publication
VAR_005065
Natural varianti446 – 4461Y → C in NPDA. 1 Publication
VAR_011388
Natural varianti450 – 4501L → P in NPDA. 1 Publication
VAR_060910
Natural varianti451 – 4511A → D in NPDB. 1 Publication
VAR_068439
Natural varianti452 – 4521A → V in NPDB. 1 Publication
VAR_060911
Natural varianti456 – 4561G → D in NPDB. 1 Publication
VAR_060912
Natural varianti463 – 4631F → S in NPDA. 1 Publication
VAR_015291
Natural varianti467 – 4671Y → S in NPDA. 1 Publication
VAR_060913
Natural varianti474 – 4741R → W in NPDB; also in a patient with an intermediate form. 3 Publications
VAR_060914
Natural varianti475 – 4751P → L in NPDA and NPDB. 3 Publications
VAR_015292
Natural varianti480 – 4801F → L in NPDB. 1 Publication
VAR_060915
Natural varianti482 – 4821A → E in NPDA. 1 Publication
VAR_060916
Natural varianti485 – 4851A → V in NPDB. 1 Publication
VAR_060917
Natural varianti486 – 4861T → A in NPDB. 1 Publication
VAR_060918
Natural varianti488 – 4881Y → N in NPDB. 1 Publication
VAR_060919
Natural varianti494 – 4941G → S in NPDB. 1 Publication
VAR_060920
Natural varianti496 – 4961R → C in NPDB. 1 Publication
VAR_060921
Natural varianti496 – 4961R → H in NPDA. 1 Publication
VAR_060922
Natural varianti496 – 4961R → L in NPDA; in 32% of NPDA Ashkenazi Jewish patients. 2 Publications
VAR_005066
Natural varianti505 – 5051S → G.1 Publication
VAR_060923
Natural varianti506 – 5061G → R.5 Publications
Corresponds to variant rs1050239 [ dbSNP | Ensembl ].
VAR_054644
Natural varianti514 – 5141H → Q in NPDB. 1 Publication
VAR_060924
Natural varianti515 – 5151E → V in NPDB. 1 Publication
VAR_060925
Natural varianti517 – 5171Y → C in NPDA. 1 Publication
VAR_060926
Natural varianti520 – 5201N → S in NPDB. 1 Publication
VAR_068440
Natural varianti523 – 5231Q → H in NPDB; results in 64% of wild-type activity. 1 Publication
VAR_068441
Natural varianti533 – 5331W → R in NPDB; also in patients with an intermediate form. 2 Publications
VAR_060927
Natural varianti537 – 5371Y → H in NPDA. 1 Publication
VAR_015293
Natural varianti549 – 5491L → P in NPDB. 1 Publication
VAR_060928
Natural varianti563 – 5631D → Y in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains 6.8% residual enzyme activity. 1 Publication
VAR_060929
Natural varianti576 – 5761K → N in NPDB. 1 Publication
VAR_060930
Natural varianti577 – 5771G → S in NPDA; also in patients with an intermediate form. 2 Publications
VAR_005067
Natural varianti592 – 5921Missing in NPDA. 1 Publication
VAR_060931
Natural varianti600 – 6001R → H in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains about 10% residual enzyme activity. 2 Publications
VAR_060932
Natural varianti600 – 6001R → P in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains very low enzyme activity. 2 Publications
VAR_060933
Natural varianti608 – 6081Missing in NPDB; prevalent among NPDB patients from the North African Maghreb region. 3 Publications
VAR_005068

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei104 – 1041Missing in isoform 4. VSP_046964
Alternative sequencei363 – 41856Missing in isoform 3. VSP_000333Add
BLAST
Alternative sequencei363 – 37412IGGFY…SPYPG → YLSSVETQEGKR in isoform 2. VSP_000331Add
BLAST
Alternative sequencei375 – 41844Missing in isoform 2. VSP_000332Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti35 – 362Missing in CAA42584. 1 Publication
Sequence conflicti268 – 2681G → D in BAF85077. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M59916 mRNA. Translation: AAA58377.1.
M59917 Genomic DNA. Translation: AAA58378.1.
X63600 Genomic DNA. Translation: CAA45145.1.
M81780 Genomic DNA. Translation: AAA75008.1.
M81780 Genomic DNA. Translation: AAA75009.1.
X59960 mRNA. Translation: CAA42584.1.
AK292388 mRNA. Translation: BAF85077.1.
AC068733 Genomic DNA. No translation available.
X52678 mRNA. Translation: CAA36901.1.
X52679 mRNA. Translation: CAA36902.1.
PIRiS06958.
S27009. A39825.
RefSeqiNP_000534.3. NM_000543.4.
NP_001007594.2. NM_001007593.2.
UniGeneiHs.498173.

Genome annotation databases

EnsembliENST00000342245; ENSP00000340409; ENSG00000166311.
ENST00000527275; ENSP00000435350; ENSG00000166311.
GeneIDi6609.
KEGGihsa:6609.

Polymorphism databases

DMDMi224471897.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Mendelian genes sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M59916 mRNA. Translation: AAA58377.1 .
M59917 Genomic DNA. Translation: AAA58378.1 .
X63600 Genomic DNA. Translation: CAA45145.1 .
M81780 Genomic DNA. Translation: AAA75008.1 .
M81780 Genomic DNA. Translation: AAA75009.1 .
X59960 mRNA. Translation: CAA42584.1 .
AK292388 mRNA. Translation: BAF85077.1 .
AC068733 Genomic DNA. No translation available.
X52678 mRNA. Translation: CAA36901.1 .
X52679 mRNA. Translation: CAA36902.1 .
PIRi S06958.
S27009. A39825.
RefSeqi NP_000534.3. NM_000543.4.
NP_001007594.2. NM_001007593.2.
UniGenei Hs.498173.

3D structure databases

ProteinModelPortali P17405.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112493. 5 interactions.
IntActi P17405. 7 interactions.
MINTi MINT-3008689.
STRINGi 9606.ENSP00000340409.

Chemistry

BindingDBi P17405.
ChEMBLi CHEMBL2760.
DrugBanki DB01151. Desipramine.

PTM databases

PhosphoSitei P17405.

Polymorphism databases

DMDMi 224471897.

Proteomic databases

MaxQBi P17405.
PaxDbi P17405.
PRIDEi P17405.

Protocols and materials databases

DNASUi 6609.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000342245 ; ENSP00000340409 ; ENSG00000166311 .
ENST00000527275 ; ENSP00000435350 ; ENSG00000166311 .
GeneIDi 6609.
KEGGi hsa:6609.

Organism-specific databases

CTDi 6609.
GeneCardsi GC11P006411.
GeneReviewsi SMPD1.
HGNCi HGNC:11120. SMPD1.
HPAi HPA001823.
MIMi 257200. phenotype.
607608. gene.
607616. phenotype.
neXtProti NX_P17405.
Orphaneti 77292. Niemann-Pick disease type A.
77293. Niemann-Pick disease type B.
PharmGKBi PA35969.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG303902.
HOVERGENi HBG004288.
InParanoidi P17405.
KOi K12350.
OrthoDBi EOG79PJP3.
PhylomeDBi P17405.
TreeFami TF313674.

Enzyme and pathway databases

Reactomei REACT_116105. Glycosphingolipid metabolism.

Miscellaneous databases

ChiTaRSi SMPD1. human.
GeneWikii Sphingomyelin_phosphodiesterase_1.
GenomeRNAii 6609.
NextBioi 25729.
PROi P17405.
SOURCEi Search...

Gene expression databases

ArrayExpressi P17405.
Bgeei P17405.
CleanExi HS_SMPD1.
Genevestigatori P17405.

Family and domain databases

Gene3Di 1.10.225.10. 1 hit.
3.60.21.10. 1 hit.
InterProi IPR004843. Calcineurin-like_PHP_apaH.
IPR029052. Metallo-depent_PP-like.
IPR011001. Saposin-like.
IPR008139. SaposinB.
IPR011160. Sphingomy_PDE.
[Graphical view ]
Pfami PF00149. Metallophos. 1 hit.
[Graphical view ]
PIRSFi PIRSF000948. Sphingomy_PDE. 1 hit.
SMARTi SM00741. SapB. 1 hit.
[Graphical view ]
SUPFAMi SSF47862. SSF47862. 1 hit.
SSF56300. SSF56300. 1 hit.
PROSITEi PS50015. SAP_B. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs."
    Schuchman E.H., Suchi M., Takahashi T., Sandhoff K., Desnick R.J.
    J. Biol. Chem. 266:8531-8539(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING, VARIANTS ILE-322 AND ARG-506.
  2. "Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene."
    Newrzella D., Stoffel W.
    Biol. Chem. Hoppe-Seyler 373:1233-1238(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ARG-506.
  3. "Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)."
    Schuchman E.H., Levran O., Pereira L.V., Desnick R.J.
    Genomics 12:197-205(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-36.
  4. "Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive."
    Ida H., Rennert O.M., Eto Y., Chan W.Y.
    J. Biochem. 114:15-20(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ARG-157.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), VARIANT ARG-506.
    Tissue: Testis.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts."
    Quintern L.E., Schuchman E.H., Levran O., Suchi M., Ferlinz K., Reinke H., Sandhoff K., Desnick R.J.
    EMBO J. 8:2469-2473(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 128-629, PARTIAL PROTEIN SEQUENCE, ALTERNATIVE SPLICING, VARIANTS ILE-322 AND ARG-506.
    Tissue: Fibroblast.
  8. "Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis."
    Ferlinz K., Hurwitz R., Moczall H., Lansmann S., Schuchman E.H., Sandhoff K.
    Eur. J. Biochem. 243:511-517(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION AT ASN-86; ASN-175; ASN-335; ASN-395 AND ASN-520.
  9. Cited for: DISULFIDE BONDS.
  10. "Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol."
    Dastani Z., Ruel I.L., Engert J.C., Genest J. Jr., Marcil M.
    BMC Med. Genet. 8:79-79(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: POLYMORPHISM.
  11. "Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A."
    Ferlinz K., Hurwitz R., Sandhoff K.
    Biochem. Biophys. Res. Commun. 179:1187-1191(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NPDA SER-577.
  12. "Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients."
    Levran O., Desnick R.J., Schuchman E.H.
    Proc. Natl. Acad. Sci. U.S.A. 88:3748-3752(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NPDA LEU-496.
  13. "Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients."
    Levran O., Desnick R.J., Schuchman E.H.
    J. Clin. Invest. 88:806-810(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NPDB ARG-608 DEL.
  14. "Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients."
    Levran O., Desnick R.J., Schuchman E.H.
    Blood 80:2081-2087(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NPDA PRO-302.
  15. "Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease."
    Takahashi T., Desnick R.J., Takada G., Schuchman E.H.
    Hum. Mutat. 1:70-71(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NPDB ARG-436.
  16. "Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms."
    Takahashi T., Suchi M., Desnick R.J., Takada G., Schuchman E.H.
    J. Biol. Chem. 267:12552-12558(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NPDA ILE-382, VARIANTS NPDB ARG-242 AND SER-383.
  17. "A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate."
    Sperl W., Bart G., Vanier M.T., Christomanou H., Baldissera I., Steichensdorf E., Paschke E.
    J. Inherit. Metab. Dis. 17:93-103(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NPDB GLY-391.
  18. "Two new mutations in the acid sphingomyelinase gene causing type A Niemann-pick disease: N389T and R441X."
    Schuchman E.H.
    Hum. Mutat. 6:352-354(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NPDA THR-389.
  19. "Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease."
    Takahashi T., Suchi M., Sato W., Ten S.B., Sakuragawa N., Desnick R.J., Schuchman E.H., Takada G.
    Tohoku J. Exp. Med. 177:117-123(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NPDA CYS-446.
  20. "Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann-Pick disease type A and B."
    Ida H., Rennert O.M., Maekawa K., Eto Y.
    Hum. Mutat. 7:65-67(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NPDB GLN-246.
  21. "Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency."
    Pavluu H., Elleder M.
    J. Inherit. Metab. Dis. 20:615-616(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPDA/NPDB LYS-292 AND PRO-341.
  22. "The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations."
    Simonaro C.M., Desnick R.J., McGovern M.M., Wasserstein M.P., Schuchman E.H.
    Am. J. Hum. Genet. 71:1413-1419(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPDB VAL-49; TRP-92; PRO-137; ARG-157; PRO-196; CYS-200; MET-225; CYS-228; ASP-232; SER-245; ARG-248; HIS-289; ALA-323; ARG-330; ASP-357; HIS-376; LEU-376; PRO-379; VAL-413; TYR-421; ARG-431; PRO-432; CYS-435; VAL-452; ASP-456; TRP-474; LEU-475; LEU-480; VAL-485; ASN-488; SER-494; CYS-496; GLN-514; VAL-515; ARG-533; PRO-549; ASN-576; HIS-600 AND PRO-600.
  23. "Seven novel Acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients."
    Sikora J., Pavluu-Pereira H., Elleder M., Roelofs H., Wevers R.A.
    Ann. Hum. Genet. 67:63-70(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPDA ARG-248; TYR-319; SER-463; LEU-475 AND HIS-537, VARIANTS NPDB SER-371 AND ARG-608 DEL.
  24. "Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1."
    Ricci V., Stroppiano M., Corsolini F., Di Rocco M., Parenti G., Regis S., Grossi S., Biancheri R., Mazzotti R., Filocamo M.
    Hum. Mutat. 24:105-105(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPDA PRO-103; SER-245; LYS-246; GLN-294; HIS-313; PRO-450; LEU-475; LEU-496; HIS-496 AND CYS-517.
  25. "Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon."
    Pittis M.G., Ricci V., Guerci V.I., Marcais C., Ciana G., Dardis A., Gerin F., Stroppiano M., Vanier M.T., Filocamo M., Bembi B.
    Hum. Mutat. 24:186-187(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPDB PRO-103; PRO-225; CYS-244; THR-281; LYS-292 AND ILE-382.
  26. "Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick type B disease."
    Dardis A., Zampieri S., Filocamo M., Burlina A., Bembi B., Pittis M.G.
    Hum. Mutat. 26:164-164(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPDB ALA-130 AND TYR-563, CHARACTERIZATION OF VARIANTS NPDB PRO-103; ALA-130; PRO-225; CYS-244; THR-281; TYR-563; HIS-600 AND PRO-600.
  27. "Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study."
    Pavluu-Pereira H., Asfaw B., Poupctova H., Ledvinova J., Sikora J., Vanier M.T., Sandhoff K., Zeman J., Novotna Z., Chudoba D., Elleder M.
    J. Inherit. Metab. Dis. 28:203-227(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPDA/NPDB ARG-166; LEU-184; HIS-228; VAL-241; ARG-248; GLU-251; ALA-278; HIS-289; LYS-292; PRO-341; HIS-376; TRP-474; ARG-533 AND SER-577, VARIANT ARG-506.
  28. Cited for: VARIANTS NPDB ARG-166 AND ASN-176, VARIANT GLY-505.
  29. "A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease."
    Lan M.Y., Lin S.J., Chen Y.F., Peng C.H., Liu Y.F.
    Ann. Hematol. 88:695-697(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPDB ARG-330 AND ASP-451.
  30. "Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients."
    Rodriguez-Pascau L., Gort L., Schuchman E.H., Vilageliu L., Grinberg D., Chabas A.
    Hum. Mutat. 30:1117-1122(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPDA SER-245; CYS-367; PHE-390 DEL; ARG-421; SER-467; GLU-482 AND THR-592 DEL, VARIANTS NPDB CYS-228; HIS-376; TRP-474; ALA-486 AND ARG-608 DEL.
  31. "Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease."
    Desnick J.P., Kim J., He X., Wasserstein M.P., Simonaro C.M., Schuchman E.H.
    Mol. Med. 16:316-321(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPDA ARG-209 AND HIS-251, VARIANTS NPDB MET-312; ARG-425 AND HIS-523, CHARACTERIZATION OF VARIANTS NPDA ARG-209 AND HIS-251, CHARACTERIZATION OF VARIANTS NPDB MET-312; ARG-425 AND HIS-523.
  32. "A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease."
    Hua R., Wu H., Cui Z., Chen J.X., Wang Z.
    Chin. Med. J. 125:1511-1512(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NPDB SER-520.

Entry informationi

Entry nameiASM_HUMAN
AccessioniPrimary (citable) accession number: P17405
Secondary accession number(s): A8K8M3
, E9PKS3, P17406, Q13811, Q16837, Q16841
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: March 3, 2009
Last modified: September 3, 2014
This is version 167 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

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

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi