Sphingomyelin phosphodiesterase 1

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SMPD1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSMPD1, ASM, ASMASE, NPD, Sphingomyelin phosphodiesterase 1
External IDsMGI: 98325 HomoloGene: 457 GeneCards: SMPD1
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for SMPD1
Genomic location for SMPD1
Band11p15.4Start6,390,440 bp[1]
End6,394,998 bp[1]
RNA expression pattern
PBB GE SMPD1 216230 x at fs.png

PBB GE SMPD1 209420 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000543
NM_001007593
NM_001318087
NM_001318088
NM_001365135

NM_011421

RefSeq (protein)

NP_000534
NP_001007594
NP_001305016
NP_001305017
NP_001352064

NP_035551

Location (UCSC)Chr 11: 6.39 – 6.39 MbChr 7: 105.55 – 105.56 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sphingomyelin phosphodiesterase 1 (SMPD1), also known as acid sphingomyelinase (ASM), is an enzyme that in humans is encoded by the SMPD1 gene.

Sphingomyelin phosphodiesterase 1 belongs to the sphingomyelin phosphodiesterase family.[5]

Clinical significance[edit]

Defects in SMPD1 gene cause Niemann-Pick disease, SMPD1-associated.[5]

A L302P mutation in the SMPD1 gene as a risk factor for Parkinson disease.[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166311 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037049 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b "Entrez Gene: SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)".
  6. ^ Gan-Or Z, Ozelius LJ, Bar-Shira A, Saunders-Pullman R, Mirelman A, Kornreich R, Gana-Weisz M, Raymond D, Rozenkrantz L, Deik A, Gurevich T, Gross SJ, Schreiber-Agus N, Giladi N, Bressman SB, Orr-Urtreger A (April 2013). "The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease". Neurology. 80 (17): 1606–10. doi:10.1212/WNL.0b013e31828f180e. PMC 3662322. PMID 23535491.

Further reading[edit]

External links[edit]