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Sequence Detail
ID/Version
Q8BSY0 Q9EPA6 Q9EQ64 (UniProt | EBI) Last sequence update: 2003-03-01
Last annotation update: 2019-05-08
Sequence
description
from provider
RecName: Full=Aspartyl/asparaginyl beta-hydroxylase; EC=1.14.11.16 {ECO:0000269|PubMed:11773073};AltName: Full=Aspartate beta-hydroxylase; Short=ASP beta-hydroxylase;AltName: Full=Peptide-aspartate beta-dioxygenase;
Provider SWISS-PROT
Sequence
Polypeptide 741 aa
For this sequence
Source
Organism mouse
See UniProt | EBI for source
Annotated genes and markers Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.
Type Symbol Name GO Terms Expression
Assays
Orthologs Phenotypic
Alleles
Gene Asph aspartate-beta-hydroxylase 36 6 6 12
Sequence references in MGI J:66238 Dinchuk JE, et al., Aspartyl beta -hydroxylase (Asph) and an evolutionarily conserved isoform of asph missing the catalytic domain share exons with junctin. J Biol Chem. 2000 Dec 15;275(50):39543-54
J:68975 Jones LR, et al., Purification, primary structure, and immunological characterization of the 26-kDa calsequestrin binding protein (junctin) from cardiac junctional sarcoplasmic reticulum. J Biol Chem. 1995 Dec 22;270(51):30787-96
J:75888 Dinchuk JE, et al., Absence of Post-translational Aspartyl beta -Hydroxylation of Epidermal Growth Factor Domains in Mice Leads to Developmental Defects and an Increased Incidence of Intestinal Neoplasia. J Biol Chem. 2002 Apr 12;277(15):12970-7
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:189521 Boncompagni S, et al., Triadin/Junctin double null mouse reveals a differential role for Triadin and Junctin in anchoring CASQ to the jSR and regulating Ca(2+) homeostasis. PLoS One. 2012;7(7):e39962
J:229861 Patel N, et al., Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome. Am J Hum Genet. 2014 May 1;94(5):755-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
07/09/2019
MGI 6.14
The Jackson Laboratory