Basic Information

Symbol
SMPD1
RNA class
mRNA
Alias
Sphingomyelin Phosphodiesterase 1 ASM Acid Sphingomyelinase Sphingomyelin Phosphodiesterase 1, Acid Lysosomal Sphingomyelin Phosphodiesterase Niemann-Pick Type A/B EC 3.1.4.12 EC 3.1.4.3 ASMASE ASMase NPD
Location (GRCh38)
11:6390414-6394998
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Time since deposition estimation
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_000543.5
Sequence length
2410.0 nt
GC content
0.5996

Transcripts

ID Sequence Length GC content
NM_000543.5 NCBI
AGUCAGCCGACUACAGAGAAGGGUAAUCGGGUGUCCCCGGCGCCGCCCG… 2410 nt 0.5996
NM_001007593.3 NCBI
AGUCAGCCGACUACAGAGAAGGGUAAUCGGGUGUCCCCGGCGCCGCCCG… 2407 nt 0.5999
NM_001318087.2 NCBI
AGUCAGCCGACUACAGAGAAGGGUAAUCGGGUGUCCCCGGCGCCGCCCG… 2430 nt 0.5996
NM_001318088.2 NCBI
AGUCAGCCGACUACAGAGAAGGGUAAUCGGGUGUCCCCGGCGCCGCCCG… 2450 nt 0.5976
NM_001365135.2 NCBI
AGUCAGCCGACUACAGAGAAGGGUAAUCGGGUGUCCCCGGCGCCGCCCG… 2278 nt 0.6018
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]

Forensic Context

A study in *Phormia regina* maggots demonstrated that the biomarker [asm], identified as sphingomyelin phosphodiesterase, is an RNA marker for maggot age estimation, showing upregulated expression as maggots age from 80 to 130 hours and being associated with sphingolipid metabolism and cellular development [Lin et al. DOI:10.1371/journal.pgen.1011948].