Details for: SMPD1

Gene ID: 6609

Symbol: SMPD1

Ensembl ID: ENSG00000166311

Description: sphingomyelin phosphodiesterase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 104.5998
    Cell Significance Index: -16.2700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 62.9624
    Cell Significance Index: -15.9700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 38.2147
    Cell Significance Index: -15.5300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 37.0031
    Cell Significance Index: -17.4700
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 26.1094
    Cell Significance Index: -17.5200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 16.5385
    Cell Significance Index: -15.7900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 13.6015
    Cell Significance Index: -16.7700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.5392
    Cell Significance Index: -12.1600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.3563
    Cell Significance Index: -17.1900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 3.9590
    Cell Significance Index: -12.1600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.9293
    Cell Significance Index: 24.9000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8761
    Cell Significance Index: 791.0600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.7568
    Cell Significance Index: 20.6000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.6582
    Cell Significance Index: 30.6900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5908
    Cell Significance Index: 35.4700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5565
    Cell Significance Index: 60.5400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5023
    Cell Significance Index: 81.7000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.4718
    Cell Significance Index: 60.4800
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.4696
    Cell Significance Index: 7.4500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.4210
    Cell Significance Index: 21.9300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4048
    Cell Significance Index: 8.7700
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.3909
    Cell Significance Index: 11.4800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.3836
    Cell Significance Index: 44.7000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3788
    Cell Significance Index: 10.9200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3689
    Cell Significance Index: 36.4900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3638
    Cell Significance Index: 16.4900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.3482
    Cell Significance Index: 18.2800
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.3469
    Cell Significance Index: 3.5900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3314
    Cell Significance Index: 22.9200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2705
    Cell Significance Index: 20.1600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2454
    Cell Significance Index: 33.7000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2369
    Cell Significance Index: 40.4600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.2199
    Cell Significance Index: 3.0000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1725
    Cell Significance Index: 8.9600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1715
    Cell Significance Index: 34.4100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1561
    Cell Significance Index: 19.1900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1470
    Cell Significance Index: 18.9900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.1380
    Cell Significance Index: 2.0800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1217
    Cell Significance Index: 21.9400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1090
    Cell Significance Index: 59.5100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1055
    Cell Significance Index: 20.0700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0938
    Cell Significance Index: 41.4700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0697
    Cell Significance Index: 2.4500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0525
    Cell Significance Index: 10.4200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0401
    Cell Significance Index: 14.3900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0286
    Cell Significance Index: 19.8100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0137
    Cell Significance Index: 1.6200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0009
    Cell Significance Index: -0.0400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0012
    Cell Significance Index: -2.1800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0019
    Cell Significance Index: -1.4300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0031
    Cell Significance Index: -2.3800
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0092
    Cell Significance Index: -0.0600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0096
    Cell Significance Index: -6.0000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0102
    Cell Significance Index: -18.7800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0109
    Cell Significance Index: -0.2900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0121
    Cell Significance Index: -18.5900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0141
    Cell Significance Index: -19.1100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0149
    Cell Significance Index: -0.2500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0152
    Cell Significance Index: -9.6400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0157
    Cell Significance Index: -8.8300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0165
    Cell Significance Index: -1.6900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0220
    Cell Significance Index: -4.6300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0298
    Cell Significance Index: -13.5400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0328
    Cell Significance Index: -3.7600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0410
    Cell Significance Index: -2.9000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0425
    Cell Significance Index: -0.9100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0491
    Cell Significance Index: -14.1400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0512
    Cell Significance Index: -1.7800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0554
    Cell Significance Index: -8.0500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0882
    Cell Significance Index: -6.7700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1009
    Cell Significance Index: -2.8200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1055
    Cell Significance Index: -3.3800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1213
    Cell Significance Index: -2.5400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1313
    Cell Significance Index: -14.9900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1545
    Cell Significance Index: -10.3900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1632
    Cell Significance Index: -16.9900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1749
    Cell Significance Index: -4.6000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1864
    Cell Significance Index: -1.5200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1905
    Cell Significance Index: -12.2900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1966
    Cell Significance Index: -3.3700
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.2012
    Cell Significance Index: -1.6900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2069
    Cell Significance Index: -16.3900
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.2094
    Cell Significance Index: -1.3900
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.2099
    Cell Significance Index: -2.3900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2200
    Cell Significance Index: -13.5300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2224
    Cell Significance Index: -14.0200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2257
    Cell Significance Index: -13.8400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2385
    Cell Significance Index: -6.3800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2709
    Cell Significance Index: -7.7300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2731
    Cell Significance Index: -7.0200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3079
    Cell Significance Index: -17.2800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3155
    Cell Significance Index: -9.0500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3156
    Cell Significance Index: -7.8900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3419
    Cell Significance Index: -10.0700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3425
    Cell Significance Index: -7.5000
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.3492
    Cell Significance Index: -8.5200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3599
    Cell Significance Index: -15.9200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3794
    Cell Significance Index: -13.2900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3860
    Cell Significance Index: -14.1700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** SMPD1 is a lysosomal enzyme that exhibits acid sphingomyelin phosphodiesterase activity. It is a member of the sphingomyelin phosphodiesterase family, which consists of three isoforms: SMPD1, SMPD2, and SMPD3. SMPD1 is the most widely expressed isoform and is responsible for the majority of sphingomyelin hydrolysis in cells. The enzyme has a molecular weight of approximately 62 kDa and is composed of 556 amino acids. SMPD1 is highly conserved across species, suggesting its importance in maintaining cellular homeostasis. **Pathways and Functions** SMPD1 is involved in various cellular pathways, including: 1. **Sphingolipid metabolism**: SMPD1 is a key enzyme in the sphingomyelin catabolic pathway, which regulates the levels of ceramide, a key signaling molecule involved in cell survival, proliferation, and differentiation. 2. **Endolysosomal pathway**: SMPD1 is localized to the lysosomal membrane and plays a crucial role in the degradation of sphingomyelin and other lipids. 3. **Apoptosis regulation**: SMPD1 has been shown to regulate apoptosis by modulating the levels of ceramide, a pro-apoptotic signaling molecule. 4. **Inflammation**: SMPD1 has been implicated in the regulation of inflammatory responses, particularly in the context of immune cell activation and cytokine production. 5. **Neurodevelopment**: SMPD1 has been shown to play a role in the development and maintenance of the nervous system, particularly in the regulation of neuronal growth and differentiation. **Clinical Significance** Dysregulation of SMPD1 has been implicated in various diseases, including: 1. **Neurodegenerative disorders**: SMPD1 has been associated with Alzheimer's disease, Parkinson's disease, and other neurodegenerative disorders, where it is thought to contribute to the accumulation of toxic lipid species. 2. **Cancer**: SMPD1 has been shown to be overexpressed in certain types of cancer, including breast cancer and lung cancer, where it may contribute to tumorigenesis and metastasis. 3. **Inflammatory diseases**: SMPD1 has been implicated in the regulation of inflammatory responses, particularly in the context of immune-mediated diseases, such as rheumatoid arthritis and multiple sclerosis. 4. **Cardiovascular disease**: SMPD1 has been associated with cardiovascular disease, particularly in the context of atherosclerosis and cardiac remodeling. In conclusion, SMPD1 is a critical enzyme involved in the regulation of sphingolipid metabolism and has been implicated in various diseases, including neurodegenerative disorders, cancer, and inflammatory conditions. Further research is needed to fully elucidate the mechanisms by which SMPD1 regulates cellular processes and to explore its therapeutic potential in the treatment of these diseases.

Genular Protein ID: 2964717739

Symbol: ASM_HUMAN

Name: N/A

UniProtKB Accession Codes:

P17405 A8K8M3 E9PKS3 P17406 Q13811 Q16837 Q16841

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 34 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 5 DrugCentral 1 EC 3 EMBL 10 Ensembl 2 ExpressionAtlas 1 GO 39 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 2 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 Reactome 1 RefSeq 5 Rhea 10 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1840600

Title: Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs.

PubMed ID: 1840600

DOI: 10.1016/s0021-9258(18)93007-3

PubMed ID: 1292508

Title: Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene.

PubMed ID: 1292508

DOI: 10.1515/bchm3.1992.373.2.1233

PubMed ID: 1740330

Title: Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1).

PubMed ID: 1740330

DOI: 10.1016/0888-7543(92)90366-z

PubMed ID: 8407868

Title: Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive.

PubMed ID: 8407868

DOI: 10.1093/oxfordjournals.jbchem.a124131

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 2555181

Title: Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts.

PubMed ID: 2555181

DOI: 10.1002/j.1460-2075.1989.tb08382.x

PubMed ID: 8706124

Title: Acid sphingomyelinase-deficient human lymphoblasts and mice are defective in radiation-induced apoptosis.

PubMed ID: 8706124

DOI: 10.1016/s0092-8674(00)80091-4

PubMed ID: 8702487

Title: Zn2+-stimulated sphingomyelinase is secreted by many cell types and is a product of the acid sphingomyelinase gene.

PubMed ID: 8702487

DOI: 10.1074/jbc.271.31.18431

PubMed ID: 9030779

Title: Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis.

PubMed ID: 9030779

DOI: 10.1111/j.1432-1033.1997.511_1a.x

PubMed ID: 9393854

Title: Acidic sphingomyelinase mediates entry of N. gonorrhoeae into nonphagocytic cells.

PubMed ID: 9393854

DOI: 10.1016/s0092-8674(00)80448-1

PubMed ID: 12631268

Title: Human acid sphingomyelinase.

PubMed ID: 12631268

DOI: 10.1046/j.1432-1033.2003.03435.x

PubMed ID: 12563314

Title: Host defense against Pseudomonas aeruginosa requires ceramide-rich membrane rafts.

PubMed ID: 12563314

DOI: 10.1038/nm823

PubMed ID: 16787399

Title: The lysosomal trafficking of acid sphingomyelinase is mediated by sortilin and mannose 6-phosphate receptor.

PubMed ID: 16787399

DOI: 10.1111/j.1600-0854.2006.00429.x

PubMed ID: 18088425

Title: Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol.

PubMed ID: 18088425

DOI: 10.1186/1471-2350-8-79

PubMed ID: 17303575

Title: Activation of acid sphingomyelinase by protein kinase Cdelta-mediated phosphorylation.

PubMed ID: 17303575

DOI: 10.1074/jbc.m609424200

PubMed ID: 20807762

Title: Regulated secretion of acid sphingomyelinase: implications for selectivity of ceramide formation.

PubMed ID: 20807762

DOI: 10.1074/jbc.m110.125609

PubMed ID: 20530211

Title: Exocytosis of acid sphingomyelinase by wounded cells promotes endocytosis and plasma membrane repair.

PubMed ID: 20530211

DOI: 10.1083/jcb.201003053

PubMed ID: 21157428

Title: Caspase-8 and caspase-7 sequentially mediate proteolytic activation of acid sphingomyelinase in TNF-R1 receptosomes.

PubMed ID: 21157428

DOI: 10.1038/emboj.2010.326

PubMed ID: 22573858

Title: Ebolavirus requires acid sphingomyelinase activity and plasma membrane sphingomyelin for infection.

PubMed ID: 22573858

DOI: 10.1128/jvi.00136-12

PubMed ID: 25339683

Title: Acid sphingomyelinase activity is regulated by membrane lipids and facilitates cholesterol transfer by NPC2.

PubMed ID: 25339683

DOI: 10.1194/jlr.m054528

PubMed ID: 31155842

Title: Solving the secretory acid sphingomyelinase puzzle: Insights from lysosome-mediated parasite invasion and plasma membrane repair.

PubMed ID: 31155842

DOI: 10.1111/cmi.13065

PubMed ID: 33163980

Title: Pharmacological Inhibition of Acid Sphingomyelinase Prevents Uptake of SARS-CoV-2 by Epithelial Cells.

PubMed ID: 33163980

DOI: 10.1016/j.xcrm.2020.100142

PubMed ID: 27349982

Title: Structure of human acid sphingomyelinase reveals the role of the saposin domain in activating substrate hydrolysis.

PubMed ID: 27349982

DOI: 10.1016/j.jmb.2016.06.012

PubMed ID: 27725636

Title: Human acid sphingomyelinase structures provide insight to molecular basis of Niemann-Pick disease.

PubMed ID: 27725636

DOI: 10.1038/ncomms13082

PubMed ID: 1718266

Title: Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A.

PubMed ID: 1718266

DOI: 10.1016/0006-291x(91)91697-b

PubMed ID: 2023926

Title: Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.

PubMed ID: 2023926

DOI: 10.1073/pnas.88.9.3748

PubMed ID: 1885770

Title: Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.

PubMed ID: 1885770

DOI: 10.1172/jci115380

PubMed ID: 1391960

Title: Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients.

PubMed ID: 1391960

PubMed ID: 1301192

Title: Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.

PubMed ID: 1301192

DOI: 10.1002/humu.1380010111

PubMed ID: 1618760

Title: Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.

PubMed ID: 1618760

DOI: 10.1016/s0021-9258(18)42312-5

PubMed ID: 8051942

Title: A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate.

PubMed ID: 8051942

DOI: 10.1007/bf00735404

PubMed ID: 8680412

Title: Two new mutations in the acid sphingomyelinase gene causing type A Niemann-pick disease: N389T and R441X.

PubMed ID: 8680412

DOI: 10.1002/humu.1380060412

PubMed ID: 8693491

Title: Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease.

PubMed ID: 8693491

DOI: 10.1620/tjem.177.117

PubMed ID: 8664904

Title: Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann-Pick disease type A and B.

PubMed ID: 8664904

DOI: 10.1002/(sici)1098-1004(1996)7:1<65::aid-humu10>3.0.co;2-q

PubMed ID: 9266408

Title: Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency.

PubMed ID: 9266408

DOI: 10.1023/a:1005387932546

PubMed ID: 9660788

Title: The cellular trafficking and zinc dependence of secretory and lysosomal sphingomyelinase, two products of the acid sphingomyelinase gene.

PubMed ID: 9660788

DOI: 10.1074/jbc.273.29.18250

PubMed ID: 12369017

Title: The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.

PubMed ID: 12369017

DOI: 10.1086/345074

PubMed ID: 12556236

Title: Seven novel Acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients.

PubMed ID: 12556236

DOI: 10.1046/j.1469-1809.2003.00009.x

PubMed ID: 15221801

Title: Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.

PubMed ID: 15221801

DOI: 10.1002/humu.9258

PubMed ID: 15241805

Title: Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.

PubMed ID: 15241805

DOI: 10.1002/humu.9263

PubMed ID: 16010684

Title: Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick type B disease.

PubMed ID: 16010684

DOI: 10.1002/humu.9353

PubMed ID: 15877209

Title: Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.

PubMed ID: 15877209

DOI: 10.1007/s10545-005-5671-5

PubMed ID: 16472269

Title: Clinical findings in Niemann-Pick disease type B.

PubMed ID: 16472269

DOI: 10.1111/j.1445-5994.2005.01013.x

PubMed ID: 18815062

Title: Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models.

PubMed ID: 18815062

DOI: 10.1016/j.ymgme.2008.08.004

PubMed ID: 19050888

Title: A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease.

PubMed ID: 19050888

DOI: 10.1007/s00277-008-0648-8

PubMed ID: 19405096

Title: Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.

PubMed ID: 19405096

DOI: 10.1002/humu.21018

PubMed ID: 20386867

Title: Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.

PubMed ID: 20386867

DOI: 10.2119/molmed.2010.00017

PubMed ID: 21098024

Title: A novel mechanism of lysosomal acid sphingomyelinase maturation: requirement for carboxyl-terminal proteolytic processing.

PubMed ID: 21098024

DOI: 10.1074/jbc.m110.155234

PubMed ID: 21621718

Title: PAS-positive macrophages--not always infection.

PubMed ID: 21621718

DOI: 10.1016/s0140-6736(11)60285-7

PubMed ID: 22613662

Title: A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease.

PubMed ID: 22613662

PubMed ID: 23430884

Title: Molecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing niemann-pick disease.

PubMed ID: 23430884

DOI: 10.1007/8904_2011_80

PubMed ID: 22818240

Title: Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.

PubMed ID: 22818240

DOI: 10.1016/j.ymgme.2012.06.015

PubMed ID: 23252888

Title: Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.

PubMed ID: 23252888

DOI: 10.1111/cge.12076

PubMed ID: 23430512

Title: The acid sphingomyelinase sequence variant p.A487V is not associated with decreased levels of enzymatic activity.

PubMed ID: 23430512

DOI: 10.1007/8904_2012_147

PubMed ID: 27338287

Title: Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.

PubMed ID: 27338287

DOI: 10.1002/ajmg.a.37817

PubMed ID: 26499107

Title: SMPD1 mutation update: database and comprehensive analysis of published and novel variants.

PubMed ID: 26499107

DOI: 10.1002/humu.22923

PubMed ID: 26084044

Title: Alleged detrimental mutations in the SMPD1 gene in patients with Niemann-Pick disease.

PubMed ID: 26084044

DOI: 10.3390/ijms160613649

PubMed ID: 27659707

Title: Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency.

PubMed ID: 27659707

DOI: 10.1016/j.bbrc.2016.09.096

PubMed ID: 25920558

Title: Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.

PubMed ID: 25920558

DOI: 10.1038/ejhg.2015.89

Sequence Information:

  • Length: 631
  • Mass: 69936
  • Checksum: F229709F6A9B0E9E
  • Sequence:
    • MPRYGASLRQ SCPRSGREQG QDGTAGAPGL LWMGLVLALA LALALALALS DSRVLWAPAE 
AHPLSPQGHP ARLHRIVPRL RDVFGWGNLT CPICKGLFTA INLGLKKEPN VARVGSVAIK 
LCNLLKIAPP AVCQSIVHLF EDDMVEVWRR SVLSPSEACG LLLGSTCGHW DIFSSWNISL 
PTVPKPPPKP PSPPAPGAPV SRILFLTDLH WDHDYLEGTD PDCADPLCCR RGSGLPPASR 
PGAGYWGEYS KCDLPLRTLE SLLSGLGPAG PFDMVYWTGD IPAHDVWHQT RQDQLRALTT 
VTALVRKFLG PVPVYPAVGN HESTPVNSFP PPFIEGNHSS RWLYEAMAKA WEPWLPAEAL 
RTLRIGGFYA LSPYPGLRLI SLNMNFCSRE NFWLLINSTD PAGQLQWLVG ELQAAEDRGD 
KVHIIGHIPP GHCLKSWSWN YYRIVARYEN TLAAQFFGHT HVDEFEVFYD EETLSRPLAV 
AFLAPSATTY IGLNPGYRVY QIDGNYSGSS HVVLDHETYI LNLTQANIPG AIPHWQLLYR 
ARETYGLPNT LPTAWHNLVY RMRGDMQLFQ TFWFLYHKGH PPSEPCGTPC RLATLCAQLS 
ARADSPALCR HLMPDGSLPE AQSLWPRPLF C

Genular Protein ID: 3220452479

Symbol: E9LUE8_HUMAN

Name: N/A

UniProtKB Accession Codes:

E9LUE8

Database IDs:

ARBA 8 AlphaFoldDB 1 BRENDA 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 9 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 8 Gene3D 1 InterPro 6 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PIRSR 2 PROSITE 2 PeptideAtlas 1 Pfam 1 RefSeq 1 SAM 2 SMART 1 SUPFAM 2

Sequence Information:

  • Length: 506
  • Mass: 55617
  • Checksum: 901F74BCAF45173A
  • Sequence:
    • MPRYGASLRQ SCPRSGREQG QDGTAGAPGL LWMGLVLALA LALALALSDS RVLWAPAEAH 
PLSPQGHPAR LHRIVPRLRD VFGWGNLTCP ICKGLFTAIN LGLKKEPNVA RVGSVAIKLC 
NLLKIAPPAV CQSIVHLFED DMVEVWRRSV LSPSEACGLL LGSTCGHWDI FSSWNISLPT 
VPKPPPKPPS PPAPGAPVSR ILFLTDLHWD HDYLEGTDPD CADPLCCRRG SGLPPASRPG 
AGYWGEYSKC DLPLRTLESL LSGLGPAGPF DMVYWTGDIP AHDVWHQTRQ DQLRALTTVT 
ALVRKFLGPV PVYPAVGNHE STPVNSFPPP FIEGNHSSRW LYEAMAKAWE PWLPAEALRT 
LRIGGFYALS PYPGLRLISL NMNFCSRENF WLLINSTDPA GQLQWLVGEL QAAEDRGDKV 
HIIGHIPPGH CLKSWSWNYY RIVARYENTL AAQFFGHTHV DEFEVFYDEE TLSRPLAVAF 
LAPSATTYIG LNPVSPTSLQ VTVCTK

Genular Protein ID: 1649746299

Symbol: Q59EN6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q59EN6

Database IDs:

ARBA 9 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 14 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 8 Gene3D 1 InterPro 7 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PIRSR 2 PROSITE 2 PeptideAtlas 1 Pfam 2 RefSeq 3 Rhea 2 SAM 2 SMART 1 SMR 1 SUPFAM 2

Sequence Information:

  • Length: 664
  • Mass: 73054
  • Checksum: B361244D57C8B24D
  • Sequence:
    • SGVPGAARGP EGWLGSRPGG TGQTNQPRVG SATMPRYGAS LRQSCPRSGR EQGQDGTAGA 
PGLLWMGLAL ALALALALAL ALSDSRVLWA PAEAHPLSPQ GHPARLHRIV PRLRDVFGWG 
NLTCPICKGL FTAINLGLKK EPNVARVGSV AIKLCNLLKI APPAVCQSIV HLFEDDMVEV 
WRRSVLSPSE ACGLLLGSTC GHWDIFSSWN ISLPTVPKPP PKPPSPPAPG APVSRILFLT 
DLHWDHDYLE GTDPDCADPL CCRRGSGLPP ASRPGAGYWG EYSKCDLPLR TLESLLSGLG 
PAGPFDMVYW TGDIPAHDVW HQTRQDQLRA LTTVTALVRK FLGPVPVYPA VGNHESTPVN 
SFPPPFIEGN HSSRWLYEAM AKAWEPWLPA EALRTLRIGG FYALSPYPGL RLISLNMNFC 
SRENFWLLIN STDPAGQLQW LVGELQAAED RGDKVHIIGH IPPGHCLKSW SWNYYRIVAR 
YENTLAAQFF GHTHVDEFEV FYDEETLSRP LAVAFLAPSA TTYIGLNPGY RVYQIDGNYS 
GSSHVVLDHE TYILNLTQAN IPGAIPHWQL LYRARETYGL PNTLPTAWHN LVYRMRGDMQ 
LFQTFWFLYH KGHPPSEPCG TPCRLATLCA QLSARADSPA LCRHLMPDGS LPEAQSLWPR 
PLFC

Genular Protein ID: 2273074478

Symbol: E9LUE9_HUMAN

Name: N/A

UniProtKB Accession Codes:

E9LUE9

Database IDs:

ARBA 4 AlphaFoldDB 1 BRENDA 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 6 Gene3D 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 Pfam 1 RefSeq 1 SAM 1 SMART 1 SUPFAM 2

Sequence Information:

  • Length: 398
  • Mass: 43650
  • Checksum: 39864E2CA9617CF4
  • Sequence:
    • MPRYGASLRQ SCPRSGREQG QDGTAGAPGL LWMGLALALA LALALSDSRV LWAPAEAHPL 
SPQGHPARLH RIVPRLRDVF GWGNLTCPIC KGLFTAINLG LKKEPNVARV GSVAIKLCNL 
LKIAPPAVCQ SIVHLFEDDM VEVWRRSVLS PSEACGLLLG STCGHWDIFS SWNISLPTVP 
KPPPKPPSPP APGAPVSRIL FLTDLHWDHD YLEGTDPDCA DPLCCRRGSG LPPASRPGAG 
YWGEYSKCDL PLRTLESLLS GLGPAGPFDM VYWTGDIPAH DVWHQTRQDQ LRALTTVTAL 
VRKFLGPVPV YPAVGNHEST PVNSFPPPFI EGNHSSRWLY EAMAKAWEPW LPAEALRTLR 
YLSSVETQEG KRKNWGVLCS FPIPRSPPHL SQYEFLFP

Genular Protein ID: 745890549

Symbol: Q8IUN0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8IUN0

Database IDs:

ARBA 4 AlphaFoldDB 1 BRENDA 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 7 Gene3D 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 1 SAM 2 SMART 1 SMR 1 SUPFAM 2

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 364
  • Mass: 39630
  • Checksum: 75708D79065B1CF2
  • Sequence:
    • MPRYGASLRQ SCPRSGREQG QDGTAGAPGL LWMGLALALA LALALALSDS RVLWAPAEAH 
PLSPQGHPAR LHRIVPRLRD VFGWGNLTCP ICKGLFTAIN LGLKKEPNVA RVGSVAIKLC 
NLLKIAPPAV CQSIVHLFED DMVEVWRRSV LSPSEACGLL LGSTCGHWDI FSSWNISLPT 
VPKPPPKPPS PPAPGAPVSR ILFLTDLHWD HDYLEGTDPD CADPLCCRRG SGLPPASRPG 
AGYWGEYSKC DLPLRTLESL LSGLGPAGPF DMVYWTGDIP AHDVWHQTRQ DQLRALTTVT 
ALVRKFLGPV PVYPAVGNHE STPVNSFPPP FIEGNHSSRW LYEAMAKAWE PWLPAEALRT 
LRCI

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.