SMPD1

GENE INFORMATION

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Gene name

SMPD1 (HGNC Symbol)

Synonyms

ASM

Description

Sphingomyelin phosphodiesterase 1, acid lysosomal (HGNC Symbol)

Entrez gene 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]

Chromosome

11

Cytoband

p15.4

Chromosome location (bp)

6390431 - 6394998

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000166311 (version 78.38)

Entrez gene

6609

UniProt

P17405 (UniProt - Evidence at protein level)

neXtProt

NX_P17405

Antibodypedia

SMPD1 antibodies
 

PROTEIN VIEW

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SMPD1-001
 
SMPD1-004
 
SMPD1-008
 
SMPD1-009
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SMPD1-001 ENSP00000340409
ENST00000342245
P17405
Show all »
Show » Show » 631 69.9 No 0
SMPD1-004 ENSP00000436278
ENST00000526280
E9PL59
Show all »
Show » Show » 317 36.1 No 0
SMPD1-008 ENSP00000435350
ENST00000527275
P17405
Show all »
Show » Show » 630 69.8 No 0
SMPD1-009 ENSP00000431479
ENST00000530395
E9PL59
Show all »
Show » Show » 53 6 No 0