Details for: NEU1

Gene ID: 4758

Symbol: NEU1

Ensembl ID: ENSG00000204386

Description: neuraminidase 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: 205.2136
    Cell Significance Index: -31.9200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 116.0685
    Cell Significance Index: -29.4400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 78.4330
    Cell Significance Index: -37.0300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 75.3956
    Cell Significance Index: -30.6300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 69.5477
    Cell Significance Index: -28.6500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 67.3620
    Cell Significance Index: -34.6500
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 55.3335
    Cell Significance Index: -37.1300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 32.1971
    Cell Significance Index: -30.7400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 26.2215
    Cell Significance Index: -32.3300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 12.4643
    Cell Significance Index: -33.3900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.2538
    Cell Significance Index: -32.5700
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.2055
    Cell Significance Index: -19.0600
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 4.9168
    Cell Significance Index: 52.2400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.8958
    Cell Significance Index: 243.0300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.6215
    Cell Significance Index: 46.4800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 1.3364
    Cell Significance Index: 62.8100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.1346
    Cell Significance Index: 123.4100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.1005
    Cell Significance Index: 29.9600
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.0916
    Cell Significance Index: 18.3600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.0857
    Cell Significance Index: 49.2100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.0250
    Cell Significance Index: 47.7900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.9581
    Cell Significance Index: 71.4100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.8840
    Cell Significance Index: 45.9200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.8784
    Cell Significance Index: 479.7300
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 0.8376
    Cell Significance Index: 5.1500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8295
    Cell Significance Index: 82.0600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.8253
    Cell Significance Index: 106.6200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.8064
    Cell Significance Index: 131.1600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.7906
    Cell Significance Index: 41.5100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.7845
    Cell Significance Index: 107.7400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.6794
    Cell Significance Index: 9.2700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.6757
    Cell Significance Index: 5.4000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.6613
    Cell Significance Index: 119.2100
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.6201
    Cell Significance Index: 5.7100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5973
    Cell Significance Index: 12.9400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5485
    Cell Significance Index: 67.4400
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.5140
    Cell Significance Index: 9.5000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4674
    Cell Significance Index: 92.7600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4657
    Cell Significance Index: 420.5300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.3635
    Cell Significance Index: 4.1300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3400
    Cell Significance Index: 21.9400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3339
    Cell Significance Index: 9.6200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3255
    Cell Significance Index: 143.9000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3129
    Cell Significance Index: 21.6400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3109
    Cell Significance Index: 215.0200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2927
    Cell Significance Index: 49.9800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.2671
    Cell Significance Index: 7.1500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.2542
    Cell Significance Index: 5.3200
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.2464
    Cell Significance Index: 2.5500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1662
    Cell Significance Index: 31.6300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1416
    Cell Significance Index: 28.4100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1358
    Cell Significance Index: 8.5600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1086
    Cell Significance Index: 7.6800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1000
    Cell Significance Index: 2.6700
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.0809
    Cell Significance Index: 1.4300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0632
    Cell Significance Index: 2.2200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.0601
    Cell Significance Index: 0.9000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0469
    Cell Significance Index: 1.2300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0350
    Cell Significance Index: 4.1300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0324
    Cell Significance Index: 24.5500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0195
    Cell Significance Index: 6.9800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0053
    Cell Significance Index: 0.2700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0011
    Cell Significance Index: 0.1200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0007
    Cell Significance Index: -0.5400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0022
    Cell Significance Index: -1.6300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0064
    Cell Significance Index: -0.6500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0088
    Cell Significance Index: -16.5500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0194
    Cell Significance Index: -35.8700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0219
    Cell Significance Index: -33.6400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0221
    Cell Significance Index: -13.7800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0267
    Cell Significance Index: -36.3700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0336
    Cell Significance Index: -18.9400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0364
    Cell Significance Index: -4.1800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0368
    Cell Significance Index: -23.3500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0587
    Cell Significance Index: -26.6300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0594
    Cell Significance Index: -12.5200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0604
    Cell Significance Index: -2.4700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0771
    Cell Significance Index: -1.2900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0960
    Cell Significance Index: -2.8200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1165
    Cell Significance Index: -4.0500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1232
    Cell Significance Index: -35.4500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1360
    Cell Significance Index: -3.8000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1489
    Cell Significance Index: -21.6500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1515
    Cell Significance Index: -17.6500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1550
    Cell Significance Index: -3.3000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1856
    Cell Significance Index: -9.6700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2314
    Cell Significance Index: -4.8000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2526
    Cell Significance Index: -8.0900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3116
    Cell Significance Index: -32.4500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3615
    Cell Significance Index: -27.7400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3961
    Cell Significance Index: -31.3700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.4111
    Cell Significance Index: -4.9000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4114
    Cell Significance Index: -10.5100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4858
    Cell Significance Index: -27.2600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5117
    Cell Significance Index: -31.3700
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.5181
    Cell Significance Index: -8.2200
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.5889
    Cell Significance Index: -3.9900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.5933
    Cell Significance Index: -14.8300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.6431
    Cell Significance Index: -16.5300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6593
    Cell Significance Index: -19.4200

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** NEU1 is a type II transmembrane enzyme with a single transmembrane domain and a catalytic domain located on the extracellular side of the cell membrane. The enzyme has specific substrate specificity, with a preference for cleaving alpha-2, 3, 6, and 8 sialic acid residues from glycoproteins and glycolipids. NEU1 is also involved in the catabolism of gangliosides, which are sialic acid-containing lipids that play a crucial role in cell signaling and immune function. **Pathways and Functions** NEU1 is involved in several cellular processes, including: 1. **Sialic acid metabolism**: NEU1 is responsible for the breakdown of sialic acid-containing glycoproteins and glycolipids, which is essential for maintaining proper sialic acid homeostasis in the cell. 2. **Glycosphingolipid catabolism**: NEU1 is involved in the catabolism of gangliosides, which are sialic acid-containing lipids that play a crucial role in cell signaling and immune function. 3. **Neuropathic signaling**: NEU1 has been implicated in the regulation of neuropathic signaling pathways, including the activation of pro-inflammatory cytokines and the modulation of immune responses. 4. **Cell adhesion and migration**: NEU1 has been shown to regulate cell adhesion and migration by modulating the expression of adhesion molecules and the activity of signaling pathways involved in cell migration. **Clinical Significance** Dysregulation of NEU1 has been implicated in several diseases, including: 1. **Sialidosis**: A rare genetic disorder characterized by the accumulation of sialic acid-containing molecules, leading to cellular dysfunction and organ damage. 2. **Neurological disorders**: NEU1 has been implicated in the pathogenesis of neurological disorders, including Alzheimer's disease, Parkinson's disease, and multiple sclerosis. 3. **Cancer**: NEU1 has been shown to regulate cancer cell growth, invasion, and metastasis by modulating the expression of adhesion molecules and signaling pathways involved in cell migration. 4. **Inflammatory disorders**: NEU1 has been implicated in the regulation of immune responses and the pathogenesis of inflammatory disorders, including rheumatoid arthritis and atherosclerosis. In conclusion, NEU1 is a crucial enzyme involved in sialic acid metabolism and glycosphingolipid catabolism. Its dysregulation has been implicated in several diseases, including sialidosis, neurological disorders, cancer, and inflammatory disorders. Further research is needed to fully understand the role of NEU1 in human health and disease.

Genular Protein ID: 3483032348

Symbol: NEUR1_HUMAN

Name: Sialidase-1

UniProtKB Accession Codes:

Q99519

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 EC 2 EMBL 8 Ensembl 8 ExpressionAtlas 1 GO 18 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 4 RefSeq 1 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8985184

Title: Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.

PubMed ID: 8985184

DOI: 10.1101/gad.10.24.3156

PubMed ID: 9020182

Title: Identification of a sialidase encoded in the human major histocompatibility complex.

PubMed ID: 9020182

DOI: 10.1074/jbc.272.7.4549

PubMed ID: 9054950

Title: Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis.

PubMed ID: 9054950

DOI: 10.1038/ng0397-316

PubMed ID: 14656967

Title: Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse.

PubMed ID: 14656967

DOI: 10.1101/gr.1736803

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

PubMed ID: 9480870

Title: Molecular mechanism of lysosomal sialidase deficiency in galactosialidosis involves its rapid degradation.

PubMed ID: 9480870

DOI: 10.1042/bj3300641

PubMed ID: 11571282

Title: Intracellular distribution of lysosomal sialidase is controlled by the internalization signal in its cytoplasmic tail.

PubMed ID: 11571282

DOI: 10.1074/jbc.m104547200

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 10767332

Title: Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.

PubMed ID: 10767332

DOI: 10.1093/hmg/9.7.1075

PubMed ID: 11063730

Title: Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis.

PubMed ID: 11063730

DOI: 10.1093/hmg/9.18.2715

PubMed ID: 10944856

Title: Molecular and structural studies of Japanese patients with sialidosis type 1.

PubMed ID: 10944856

DOI: 10.1007/s100380070034

PubMed ID: 11279074

Title: Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex.

PubMed ID: 11279074

DOI: 10.1074/jbc.m100460200

PubMed ID: 11829139

Title: Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.

PubMed ID: 11829139

DOI: 10.1007/s10038-002-8652-7

PubMed ID: 14695530

Title: Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression.

PubMed ID: 14695530

DOI: 10.1002/humu.10278

PubMed ID: 25153125

Title: In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization.

PubMed ID: 25153125

DOI: 10.1371/journal.pone.0104229

PubMed ID: 33798445

Title: Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.

PubMed ID: 33798445

DOI: 10.1016/j.ajhg.2021.03.013

Sequence Information:

  • Length: 415
  • Mass: 45467
  • Checksum: 360E60A256DEA07F
  • Sequence:
    • MTGERPSTAL PDRRWGPRIL GFWGGCRVWV FAAIFLLLSL AASWSKAEND FGLVQPLVTM 
EQLLWVSGRQ IGSVDTFRIP LITATPRGTL LAFAEARKMS SSDEGAKFIA LRRSMDQGST 
WSPTAFIVND GDVPDGLNLG AVVSDVETGV VFLFYSLCAH KAGCQVASTM LVWSKDDGVS 
WSTPRNLSLD IGTEVFAPGP GSGIQKQREP RKGRLIVCGH GTLERDGVFC LLSDDHGASW 
RYGSGVSGIP YGQPKQENDF NPDECQPYEL PDGSVVINAR NQNNYHCHCR IVLRSYDACD 
TLRPRDVTFD PELVDPVVAA GAVVTSSGIV FFSNPAHPEF RVNLTLRWSF SNGTSWRKET 
VQLWPGPSGY SSLATLEGSM DGEEQAPQLY VLYEKGRNHY TESISVAKIS VYGTL

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.