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
193004392009Acid sphingomyelinase activity triggers microparticle release from glial cells.172
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
158884382005Rhinoviruses infect human epithelial cells via ceramide-enriched membrane platforms.68
184269792008Remodeling of cellular cytoskeleton by the acid sphingomyelinase/ceramide pathway.67
237706922013Acid sphingomyelinase-ceramide system mediates effects of antidepressant drugs.58
158492012005Caspase-dependent and -independent activation of acid sphingomyelinase signaling.48
235354912013The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease.47
151750332004Impaired sphingomyelinase activity and epidermal differentiation in atopic dermatitis.45
225738582012Ebolavirus requires acid sphingomyelinase activity and plasma membrane sphingomyelin for infection.44
157697352005UV-C light induces raft-associated acid sphingomyelinase and JNK activation and translocation independently on a nuclear signal.43

Citation

Dessen P

SMPD1 (sphingomyelin phosphodiesterase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43980/smpd1-(sphingomyelin-phosphodiesterase-1)