SMPD1 (sphingomyelin phosphodiesterase 1)

2007-02-01  

Identity

HGNC
SMPD1
LOCATION
11p15.4
LOCUSID
6609
ALIAS
ASM,ASMASE,NPD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6609
MIM: 607608
HGNC: 11120
Ensembl: ENSG00000166311

Variants:

dbSNP: 6609
ClinVar: 6609
TCGA: ENSG00000166311
COSMIC: SMPD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166311ENST00000342245P17405
ENSG00000166311ENST00000526280H0YEP5
ENSG00000166311ENST00000527275P17405
ENSG00000166311ENST00000530395E9PL59
ENSG00000166311ENST00000531303E9PPK6
ENSG00000166311ENST00000533123G3V1E1
ENSG00000166311ENST00000534405E9PQT3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Sphingolipid metabolismKEGGko00600
Sphingolipid metabolismKEGGhsa00600
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Sphingolipid signaling pathwayKEGGhsa04071
Sphingolipid signaling pathwayKEGGko04071
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662

References

Pubmed IDYearTitleCitations
383370582024Acid sphingomyelinase as a pathological and therapeutic target in neurological disorders: focus on Alzheimer's disease.0
383370582024Acid sphingomyelinase as a pathological and therapeutic target in neurological disorders: focus on Alzheimer's disease.0
367257472023SMPD1 gene variants in patients with β-Thalassemia major.0
368826192023Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.1
369079562023SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.2
372469802023Acid sphingomyelinase expression is associated with survival in resectable pancreatic ductal adenocarcinoma.2
373418822023Effect of acid sphingomyelinase deficiency in type A Niemann-Pick disease on the transport of therapeutic nanocarriers across the blood-brain barrier.0
367257472023SMPD1 gene variants in patients with β-Thalassemia major.0
368826192023Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.1
369079562023SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.2
372469802023Acid sphingomyelinase expression is associated with survival in resectable pancreatic ductal adenocarcinoma.2
373418822023Effect of acid sphingomyelinase deficiency in type A Niemann-Pick disease on the transport of therapeutic nanocarriers across the blood-brain barrier.0
345543972022Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.1
345543972022Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.1
336657562021Acid Sphingomyelinase and Acid β-Glucosidase 1 Exert Opposite Effects on Interleukin-1β-Induced Interleukin 6 Production in Rheumatoid Arthritis Fibroblast-Like Synoviocytes.3

Citation

Dessen P

SMPD1 (sphingomyelin phosphodiesterase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43980