Details for: AGA
Associated with
Other Information
Genular Protein ID: 2633922562
Symbol: ASPG_HUMAN
Name: N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase
UniProtKB Accession Codes:
Database IDs:
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
PubMed ID: 2265705
PubMed ID: 1703489
Title: Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.
PubMed ID: 1703489
PubMed ID: 1840528
Title: Genomic structure of human lysosomal glycosylasparaginase.
PubMed ID: 1840528
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
PubMed ID: 2011603
Title: Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase.
PubMed ID: 2011603
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
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
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
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
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.