Details for: AGA

Gene ID: 175

Symbol: AGA

Ensembl ID: ENSG00000038002

Description: aspartylglucosaminidase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.49
    Marker Score: 2142
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.16
    Marker Score: 2639
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.09
    Marker Score: 9430
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.08
    Marker Score: 1349
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.03
    Marker Score: 1069
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71722
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47947
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.99
    Marker Score: 1868
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30397
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.98
    Marker Score: 282
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 479
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 435
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2705
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.9
    Marker Score: 14014
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.86
    Marker Score: 5241
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.86
    Marker Score: 518
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.85
    Marker Score: 4878
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 307
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.85
    Marker Score: 842
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.79
    Marker Score: 630
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1266
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 0.77
    Marker Score: 660
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.76
    Marker Score: 1227.5
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.75
    Marker Score: 1103
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.74
    Marker Score: 298
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 562
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.73
    Marker Score: 342
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 0.73
    Marker Score: 291
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.73
    Marker Score: 362
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 374
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.72
    Marker Score: 601
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.72
    Marker Score: 2824
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.72
    Marker Score: 257
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.71
    Marker Score: 392
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.71
    Marker Score: 1445
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.71
    Marker Score: 2723
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.69
    Marker Score: 919
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.69
    Marker Score: 630
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2858
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.68
    Marker Score: 621.5
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.67
    Marker Score: 166
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.67
    Marker Score: 444
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.67
    Marker Score: 7732
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.65
    Marker Score: 16599.5
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.65
    Marker Score: 271
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.64
    Marker Score: 4793
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.64
    Marker Score: 1351
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.63
    Marker Score: 216
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.63
    Marker Score: 2734
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.63
    Marker Score: 2643
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.61
    Marker Score: 1545
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.61
    Marker Score: 176
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.61
    Marker Score: 389
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.61
    Marker Score: 4728
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.61
    Marker Score: 640
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.6
    Marker Score: 404
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.6
    Marker Score: 1403
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.57
    Marker Score: 2329
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.56
    Marker Score: 3677
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.56
    Marker Score: 181
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.55
    Marker Score: 3371
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.55
    Marker Score: 130
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.55
    Marker Score: 363
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.55
    Marker Score: 1001
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.55
    Marker Score: 1072
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 431
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.54
    Marker Score: 955
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.54
    Marker Score: 340
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.54
    Marker Score: 142
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.53
    Marker Score: 215
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 0.53
    Marker Score: 5226
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.53
    Marker Score: 836
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.52
    Marker Score: 467
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.52
    Marker Score: 213
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.52
    Marker Score: 1248
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.52
    Marker Score: 379
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.51
    Marker Score: 459.5
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.51
    Marker Score: 1069
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.51
    Marker Score: 103
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.51
    Marker Score: 498
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 0.51
    Marker Score: 113
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.5
    Marker Score: 249
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.5
    Marker Score: 530
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.5
    Marker Score: 1134
  • Cell Name: IgM plasma cell (CL0000986)
    Fold Change: 0.5
    Marker Score: 174
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.5
    Marker Score: 109
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.5
    Marker Score: 798
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.5
    Marker Score: 245
  • Cell Name: tendon cell (CL0000388)
    Fold Change: 0.49
    Marker Score: 121
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.49
    Marker Score: 259
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.49
    Marker Score: 368.5
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.49
    Marker Score: 496
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.49
    Marker Score: 212
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.49
    Marker Score: 224
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.48
    Marker Score: 121
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.47
    Marker Score: 125
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.47
    Marker Score: 198
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.47
    Marker Score: 142

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Other Information

**Key characteristics:** - Function: Aspartylglucosaminidase is an enzyme that catalyzes the removal of a sugar group from a glycoprotein, resulting in the formation of a free amino acid. - Expression: The gene encoding aspartylglucosaminidase is significantly expressed in cells of the immune system, particularly in immune cells such as neutrophils, macrophages, and dendritic cells. - Regulation: The expression of the AGA gene is regulated by various factors, including cytokines, growth factors, and hormones. **Pathways and functions:** - The aspartylglucosaminidase gene is involved in several pathways, including the regulation of inflammation, cell migration, and cell death. - In immune cells, the enzyme is essential for the degranulation of immune complexes, which are large proteins that are taken up by macrophages and dendritic cells. - It also plays a role in the regulation of cell migration and adhesion, and is involved in the development and maintenance of immune tissues. **Clinical significance:** - Mutations in the AGA gene have been linked to several human diseases, including autoimmune disorders, cancer, and inflammation. - In one condition associated with the gene, called alpha-1 antitrypsin deficiency, mutations in the AGA gene result in the accumulation of a mutant protein that can damage liver cells and lead to liver damage and fibrosis. - Understanding the role of aspartylglucosaminidase in human health and disease has potential implications for the development of new diagnostic and therapeutic strategies for these conditions.

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 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 11 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 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 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 6 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. For the full schema, download it here.