SMPD1
Sign in to saveAlso known as ASM, ASMASE, NPD, Sphingomyelin phosphodiesterase 1
protein-coding gene in the species Homo sapiens
In the Vinony graph
Within Vinony's link graph, SMPD1 is referenced by 484 other articles, and connects out to PubMed, human chromosome 11 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 11.
Its subject is documented across 5 Wikipedia language editions.
Gene data
SMPD1- Name
- sphingomyelin phosphodiesterase 1
- Type
- protein-coding
- Position
- 6,390,381–6,394,998 (+)
- Aliases
- ASM, ASMASE, NPD
- Ensembl
- ENSG00000166311
- RefSeq RNA
- NM_000543.5, NM_001007593.3, NM_001318087.2, NM_001318088.2, NM_001365135.2
- RefSeq protein
- NP_000534.3, NP_001007594.2, NP_001305016.1, NP_001305017.1, NP_001352064.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
sphingomyelin phosphodiesterase 1
- Symbol
- SMPD1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 11:6,390,381-6,394,998
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 457
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/6609
- genomic end
- 6416228
- genomic start
- 6390440
- chromosome
- human chromosome 11
- cytogenetic location
- 11p15.4
- expressed in
- left ventricle
Sources (3)
via Wikidata · CC0