Details for: AGA

Gene ID: 175

Symbol: AGA

Ensembl ID: ENSG00000038002

Description: aspartylglucosaminidase

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: 93.5419
    Cell Significance Index: -14.5500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 50.7800
    Cell Significance Index: -12.8800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 35.3717
    Cell Significance Index: -14.3700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 35.0333
    Cell Significance Index: -16.5400
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 31.1148
    Cell Significance Index: -16.0100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 15.2083
    Cell Significance Index: -14.5200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 12.5552
    Cell Significance Index: -15.4800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.4385
    Cell Significance Index: -11.8900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.0344
    Cell Significance Index: -15.9200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 3.9525
    Cell Significance Index: -12.1400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.0601
    Cell Significance Index: 63.6400
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.0151
    Cell Significance Index: 7.6700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.8605
    Cell Significance Index: 40.1200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7332
    Cell Significance Index: 119.2400
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.7031
    Cell Significance Index: 7.4700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.6097
    Cell Significance Index: 31.6700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4877
    Cell Significance Index: 33.7300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.4043
    Cell Significance Index: 30.1300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.3716
    Cell Significance Index: 5.0700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.3511
    Cell Significance Index: 7.5100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.3343
    Cell Significance Index: 34.1500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3310
    Cell Significance Index: 63.0000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3137
    Cell Significance Index: 31.0300
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.2668
    Cell Significance Index: 3.7500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2624
    Cell Significance Index: 116.0100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2532
    Cell Significance Index: 17.9100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2373
    Cell Significance Index: 5.1400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2256
    Cell Significance Index: 38.5300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2030
    Cell Significance Index: 110.8900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1991
    Cell Significance Index: 5.4200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1988
    Cell Significance Index: 35.8500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1913
    Cell Significance Index: 5.1300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1878
    Cell Significance Index: 25.7900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1834
    Cell Significance Index: 23.6900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1754
    Cell Significance Index: 7.9500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1749
    Cell Significance Index: 21.5100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1091
    Cell Significance Index: 12.8700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1048
    Cell Significance Index: 13.4400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0884
    Cell Significance Index: 61.1100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0867
    Cell Significance Index: 17.3900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0804
    Cell Significance Index: 5.1900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0797
    Cell Significance Index: 2.3400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0729
    Cell Significance Index: 2.1000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0512
    Cell Significance Index: 1.4300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0511
    Cell Significance Index: 96.2100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0475
    Cell Significance Index: 1.2500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0423
    Cell Significance Index: 1.9900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0360
    Cell Significance Index: 32.5100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0333
    Cell Significance Index: 2.1000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0284
    Cell Significance Index: 5.6400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0158
    Cell Significance Index: 11.9700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0088
    Cell Significance Index: 0.3100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0037
    Cell Significance Index: 0.1000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0024
    Cell Significance Index: 0.8500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0018
    Cell Significance Index: 1.3000
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.0017
    Cell Significance Index: 0.0400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0006
    Cell Significance Index: 0.3800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0005
    Cell Significance Index: -0.3900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0079
    Cell Significance Index: -14.5600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0083
    Cell Significance Index: -1.2100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0084
    Cell Significance Index: -5.2600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0094
    Cell Significance Index: -0.4900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0101
    Cell Significance Index: -15.5300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0129
    Cell Significance Index: -7.2900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0129
    Cell Significance Index: -17.5700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0174
    Cell Significance Index: -0.3700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0297
    Cell Significance Index: -13.4900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0335
    Cell Significance Index: -3.8400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0366
    Cell Significance Index: -7.7000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0377
    Cell Significance Index: -4.3000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0412
    Cell Significance Index: -1.4300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0450
    Cell Significance Index: -5.2500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0478
    Cell Significance Index: -2.6800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0512
    Cell Significance Index: -14.7300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.0539
    Cell Significance Index: -0.4300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0583
    Cell Significance Index: -1.5600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0596
    Cell Significance Index: -1.9100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0988
    Cell Significance Index: -2.5300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1106
    Cell Significance Index: -6.7800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1195
    Cell Significance Index: -2.0000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.1205
    Cell Significance Index: -1.1100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1282
    Cell Significance Index: -9.8400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1393
    Cell Significance Index: -7.0400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1443
    Cell Significance Index: -15.0300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1500
    Cell Significance Index: -3.7500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1824
    Cell Significance Index: -14.4500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1917
    Cell Significance Index: -12.8900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2067
    Cell Significance Index: -12.7100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2542
    Cell Significance Index: -10.4200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2722
    Cell Significance Index: -12.0400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2806
    Cell Significance Index: -2.9100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.2949
    Cell Significance Index: -5.4500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2958
    Cell Significance Index: -15.5300
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.3071
    Cell Significance Index: -2.5800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3123
    Cell Significance Index: -9.2000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3172
    Cell Significance Index: -4.7800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3193
    Cell Significance Index: -12.0900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3303
    Cell Significance Index: -8.4900
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.3389
    Cell Significance Index: -3.8500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3438
    Cell Significance Index: -12.6200

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:** 1. **Lysosomal localization**: AGA is primarily localized to lysosomes, where it plays a crucial role in protein deglycosylation and degradation. 2. **N-acetylglucosaminidase activity**: AGA exhibits N-acetylglucosaminidase activity, breaking down N-acetylglucosamine residues from glycoproteins. 3. **Proteolytic activity**: AGA has been shown to possess proteolytic activity, contributing to the degradation of proteins. 4. **Cellular expression**: AGA is expressed in various cell types, including oogonial cells, acinar cells of the salivary gland, and epithelial cells of the esophagus. **Pathways and Functions:** 1. **Neutrophil degranulation**: AGA has been implicated in the regulation of neutrophil degranulation, a process essential for the clearance of pathogens. 2. **Protein binding**: AGA interacts with various proteins, influencing their function and degradation. 3. **Proteolysis**: AGA contributes to the degradation of proteins, regulating protein homeostasis and cellular function. 4. **Immune system regulation**: AGA may play a role in modulating the immune response, influencing the activity of immune cells such as neutrophils and macrophages. **Clinical Significance:** While AGA's role in immune function is still being elucidated, its dysregulation has been linked to various diseases, including: 1. **Neurodegenerative disorders**: Alterations in AGA expression have been observed in neurodegenerative diseases, such as Alzheimer's and Parkinson's. 2. **Autoimmune disorders**: AGA may contribute to the development of autoimmune diseases, such as rheumatoid arthritis and lupus. 3. **Cancer**: AGA's role in protein deglycosylation and proteolysis may influence cancer progression and metastasis. In conclusion, aspartylglucosaminidase (AGA) is a multifunctional enzyme that plays a crucial role in immune system regulation and disease. Further research is necessary to fully elucidate AGA's mechanisms of action and its clinical significance.

Genular Protein ID: 2633922562

Symbol: ASPG_HUMAN

Name: N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase

UniProtKB Accession Codes:

P20933 B2R7H2 D3DP47 Q4W5Q2 Q6FHN6 Q9UCK6 Q9UCK7 Q9UCK8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 5 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 23 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 10 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MEROPS 1 MIM 3 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 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 1 RefSeq 2 Rhea 1 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2401370

Title: Cloning and sequence analysis of a cDNA for human glycosylasparaginase. A single gene encodes the subunits of this lysosomal amidase.

PubMed ID: 2401370

DOI: 10.1016/0014-5793(90)81211-6

PubMed ID: 2265705

Title:

PubMed ID: 2265705

DOI: 10.1016/0014-5793(90)80551-s

PubMed ID: 1703489

Title: Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.

PubMed ID: 1703489

DOI: 10.1002/j.1460-2075.1991.tb07920.x

PubMed ID: 1840528

Title: Genomic structure of human lysosomal glycosylasparaginase.

PubMed ID: 1840528

DOI: 10.1016/0014-5793(91)81027-6

PubMed ID: 1904874

Title: Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163-->Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits.

PubMed ID: 1904874

DOI: 10.1016/s0021-9258(18)99071-x

PubMed ID: 2011603

Title: Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase.

PubMed ID: 2011603

DOI: 10.1073/pnas.88.7.2941

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 1281977

Title: Purification and structure of human liver aspartylglucosaminidase.

PubMed ID: 1281977

DOI: 10.1042/bj2881005

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 8846222

Title: Three-dimensional structure of human lysosomal aspartylglucosaminidase.

PubMed ID: 8846222

DOI: 10.1038/nsb1295-1102

PubMed ID: 1301945

Title: Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease.

PubMed ID: 1301945

DOI: 10.1002/humu.1380010503

PubMed ID: 8776587

Title: Ser72-->Pro active-site disease mutation in human lysosomal aspartylglucosaminidase: abnormal intracellular processing and evidence for extracellular activation.

PubMed ID: 8776587

DOI: 10.1093/hmg/5.6.737

PubMed ID: 9137882

Title: Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.

PubMed ID: 9137882

DOI: 10.1111/j.1399-0004.1997.tb02448.x

PubMed ID: 11309371

Title: Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.

PubMed ID: 11309371

DOI: 10.1093/hmg/10.9.983

Sequence Information:

  • Length: 346
  • Mass: 37208
  • Checksum: 766F1690B5B62FFA
  • Sequence:
    • MARKSNLPVL LVPFLLCQAL VRCSSPLPLV VNTWPFKNAT EAAWRALASG GSALDAVESG 
CAMCEREQCD GSVGFGGSPD ELGETTLDAM IMDGTTMDVG AVGDLRRIKN AIGVARKVLE 
HTTHTLLVGE SATTFAQSMG FINEDLSTTA SQALHSDWLA RNCQPNYWRN VIPDPSKYCG 
PYKPPGILKQ DIPIHKETED DRGHDTIGMV VIHKTGHIAA GTSTNGIKFK IHGRVGDSPI 
PGAGAYADDT AGAAAATGNG DILMRFLPSY QAVEYMRRGE DPTIACQKVI SRIQKHFPEF 
FGAVICANVT GSYGAACNKL STFTQFSFMV YNSEKNQPTE EKVDCI

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.