Details for: ADSL
Associated with
Other Information
Genular Protein ID: 2820138176
Symbol: PUR8_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8404037
Title: Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1-->q13.2.
PubMed ID: 8404037
DOI: 10.1159/000133575
PubMed ID: 10888601
Title: Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.
PubMed ID: 10888601
PubMed ID: 15461802
Title: A genome annotation-driven approach to cloning the human ORFeome.
PubMed ID: 15461802
PubMed ID: 10591208
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: 1302001
Title: A mutation in adenylosuccinate lyase associated with mental retardation and autistic features.
PubMed ID: 1302001
DOI: 10.1038/ng0492-59
PubMed ID: 16973378
Title: Expression, purification, and characterization of stable, recombinant human adenylosuccinate lyase.
PubMed ID: 16973378
PubMed ID: 19608861
Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.
PubMed ID: 19608861
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: 25114211
Title: Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.
PubMed ID: 25114211
PubMed ID: 22812634
Title: Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation.
PubMed ID: 22812634
DOI: 10.1021/bi300796y
PubMed ID: 9266401
Title: Adenylosuccinase deficiency presenting with epilepsy in early infancy.
PubMed ID: 9266401
PubMed ID: 9545543
Title: Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells.
PubMed ID: 9545543
PubMed ID: 10090474
Title: Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.
PubMed ID: 10090474
DOI: 10.1002/(sici)1098-1004(1999)13:3<197::aid-humu3>3.0.co;2-d
PubMed ID: 10958654
Title: Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
PubMed ID: 10958654
PubMed ID: 12016589
Title: Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency.
PubMed ID: 12016589
DOI: 10.1086/341036
PubMed ID: 12070256
Title: Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
PubMed ID: 12070256
DOI: 10.1136/jmg.39.6.440
PubMed ID: 12368987
Title: Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.
PubMed ID: 12368987
DOI: 10.1055/s-2002-34493
PubMed ID: 12833398
Title: Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.
PubMed ID: 12833398
DOI: 10.1002/ajmg.a.20176
PubMed ID: 16839792
PubMed ID: 19405474
Title: Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.
PubMed ID: 19405474
DOI: 10.1021/bi802321m
Sequence Information:
- Length: 484
- Mass: 54889
- Checksum: 7AA3A0A2C681FD94
- Sequence:
MAAGGDHGSP DSYRSPLASR YASPEMCFVF SDRYKFRTWR QLWLWLAEAE QTLGLPITDE QIQEMKSNLE NIDFKMAAEE EKRLRHDVMA HVHTFGHCCP KAAGIIHLGA TSCYVGDNTD LIILRNALDL LLPKLARVIS RLADFAKERA SLPTLGFTHF QPAQLTTVGK RCCLWIQDLC MDLQNLKRVR DDLRFRGVKG TTGTQASFLQ LFEGDDHKVE QLDKMVTEKA GFKRAFIITG QTYTRKVDIE VLSVLASLGA SVHKICTDIR LLANLKEMEE PFEKQQIGSS AMPYKRNPMR SERCCSLARH LMTLVMDPLQ TASVQWFERT LDDSANRRIC LAEAFLTADT ILNTLQNISE GLVVYPKVIE RRIRQELPFM ATENIIMAMV KAGGSRQDCH EKIRVLSQQA ASVVKQEGGD NDLIERIQVD AYFSPIHSQL DHLLDPSSFT GRASQQVQRF LEEEVYPLLK PYESVMKVKA ELCL
Genular Protein ID: 1253245662
Symbol: X5D7W4_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 24722188
Title: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
PubMed ID: 24722188
Sequence Information:
- Length: 46
- Mass: 5193
- Checksum: 66ACB1E1AB65000B
- Sequence:
MAAGGDHGSP DSYRSPLASR YASPEMCFVF SDRHWVCLSQ MNKSRR
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.