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)

6411655 - 6416228

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000166311 (version 75.37)

Entrez gene

6609

UniProt

P17405 (UniProt - Evidence at protein level)

neXtProt

NX_P17405

Antibodypedia

SMPD1 antibodies
 

PROTEIN VIEW

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SMPD1-001
 
SMPD1-002
 
SMPD1-003
 
SMPD1-004
 
SMPD1-007
 
SMPD1-008
 
SMPD1-009
 
SMPD1-201
 
SMPD1-202
 
 
 
 
 

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
SMPD1-002 ENSP00000435950
ENST00000533123
G3V1E1
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Show » Show » 366 39.8 No 0
SMPD1-003 ENSP00000432625
ENST00000531303
E9PPK6
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Show » 171 18.5 No 0
SMPD1-004 ENSP00000436278
ENST00000526280
E9PL59
Show all »
Show » Show » 317 36.1 No 0
SMPD1-007 ENSP00000434353
ENST00000534405
E9PQT3
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Show » Show » 402 44 No 0
SMPD1-008 ENSP00000435350
ENST00000527275
P17405
Show all »
Show » Show » 630 69.8 No 0
SMPD1-009 ENSP00000431479
ENST00000530395
E9PL59
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Show » Show » 53 6 No 0
SMPD1-201 ENSP00000299397
ENST00000299397
G3XAB5
Show all »
Show » Show » 587 65.1 No 0
SMPD1-202 ENSP00000349203
ENST00000356761
E7EWE2
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Show » Show » 575 63.7 No 0