Tissue expression of SMPD1 - Summary - The Human Protein Atlas

GENERAL INFORMATION
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

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
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 83.38)
Entrez gene	6609
UniProt	P17405 (UniProt - Evidence at protein level)
neXtProt	NX_P17405
Antibodypedia	SMPD1 antibodies

PROTEIN BROWSER

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

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
SMPD1-001 ENSP00000340409 ENST00000342245	P17405 [Direct mapping] Sphingomyelin phosphodiesterase Show all	Enzymes ENZYME proteins Hydrolases MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004767 [sphingomyelin phosphodiesterase activity] GO:0005515 [protein binding] GO:0005615 [extracellular space] GO:0005764 [lysosome] GO:0005768 [endosome] GO:0005886 [plasma membrane] GO:0006665 [sphingolipid metabolic process] GO:0006684 [sphingomyelin metabolic process] GO:0006685 [sphingomyelin catabolic process] GO:0006687 [glycosphingolipid metabolic process] GO:0007165 [signal transduction] GO:0007399 [nervous system development] GO:0016787 [hydrolase activity] GO:0016798 [hydrolase activity, acting on glycosyl bonds] GO:0023021 [termination of signal transduction] GO:0035307 [positive regulation of protein dephosphorylation] GO:0042220 [response to cocaine] GO:0042493 [response to drug] GO:0042599 [lamellar body] GO:0043065 [positive regulation of apoptotic process] GO:0043202 [lysosomal lumen] GO:0043407 [negative regulation of MAP kinase activity] GO:0044281 [small molecule metabolic process] GO:0046513 [ceramide biosynthetic process] GO:0070062 [extracellular exosome] Show all	631 aa 69.9 kDa	No	0
SMPD1-004 ENSP00000436278 ENST00000526280	H0YEP5 [Direct mapping] Sphingomyelin phosphodiesterase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0008152 [metabolic process] GO:0016787 [hydrolase activity] Show all	317 aa 36.1 kDa	No	0
SMPD1-008 ENSP00000435350 ENST00000527275	P17405 [Direct mapping] Sphingomyelin phosphodiesterase Show all	Enzymes ENZYME proteins Hydrolases MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004767 [sphingomyelin phosphodiesterase activity] GO:0005515 [protein binding] GO:0005764 [lysosome] GO:0005768 [endosome] GO:0005886 [plasma membrane] GO:0006665 [sphingolipid metabolic process] GO:0006684 [sphingomyelin metabolic process] GO:0006685 [sphingomyelin catabolic process] GO:0006687 [glycosphingolipid metabolic process] GO:0007165 [signal transduction] GO:0007399 [nervous system development] GO:0016787 [hydrolase activity] GO:0016798 [hydrolase activity, acting on glycosyl bonds] GO:0023021 [termination of signal transduction] GO:0035307 [positive regulation of protein dephosphorylation] GO:0043202 [lysosomal lumen] GO:0043407 [negative regulation of MAP kinase activity] GO:0044281 [small molecule metabolic process] GO:0046513 [ceramide biosynthetic process] GO:0070062 [extracellular exosome] Show all	630 aa 69.8 kDa	No	0
SMPD1-009 ENSP00000431479 ENST00000530395	E9PL59 [Direct mapping] Sphingomyelin phosphodiesterase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0008152 [metabolic process] GO:0016787 [hydrolase activity] Show all	53 aa 6 kDa	No	0