SMPD1

GENERAL INFORMATION

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Gene name

SMPD1

Gene description

Sphingomyelin phosphodiesterase 1, acid lysosomal

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues displayed nuclear positivity of moderate intensity.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA001823
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 BROWSER

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ENST00000342245
 
ENST00000526280
 
ENST00000527275
 
ENST00000530395
 
 
 
 


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
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Show » Show » 631 69.9 No 0
SMPD1-004 ENSP00000436278
ENST00000526280
E9PL59
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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