Aspartate Beta Hydroxylase (ASPH)

BAH; CASQ2BP1; HAAH; JCTN; Junctin; Humbug; Junctate; Aspartyl/Asparaginyl Beta-Hydroxylase; Peptide-aspartate beta-dioxygenase

SPN	Q660
HGNC	757
MGI	1914186
PubMed	7821814
RGD	1312000
UniProt	Q12797
Wiki	ASPH

ASPH is is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum.

Reference

"Cloning and characterization of the human gene encoding aspartyl beta-hydroxylase."
Gene 150:395-399(1994) [PubMed] [Europe PMC] [Abstract]

"Overexpression of human aspartyl(asparaginyl)beta-hydroxylase in hepatocellular carcinoma and cholangiocarcinoma."
J. Clin. Invest. 98:1313-1323(1996) [PubMed] [Europe PMC] [Abstract]

"cDNA cloning and characterization of human cardiac junctin."
Gene 255:35-42(2000) [PubMed] [Europe PMC] [Abstract]

"Aspartyl beta -hydroxylase (Asph) and an evolutionarily conserved isoform of Asph missing the catalytic domain share exons with junctin."
J. Biol. Chem. 275:39543-39554(2000) [PubMed] [Europe PMC] [Abstract]

"Molecular cloning, expression, functional characterization, chromosomal localization, and gene structure of junctate, a novel integral calcium binding protein of sarco(endo)plasmic reticulum membrane."
J. Biol. Chem. 275:39555-39568(2000) [PubMed] [Europe PMC] [Abstract]

"Molecular cloning of junctin from human and developing rabbit heart."
Mol. Genet. Metab. 69:252-258(2000) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"DNA sequence and analysis of human chromosome 8."
Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Junctate is a Ca2+-sensing structural component of Orai1 and stromal interaction molecule 1 (STIM1)."
Proc. Natl. Acad. Sci. U.S.A. 109:8682-8687(2012) [PubMed] [Europe PMC] [Abstract]

"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]

"Calsequestrin mutant D307H exhibits depressed binding to its protein targets and a depressed response to calcium."
Cardiovasc. Res. 64:227-233(2004) [PubMed] [Europe PMC] [Abstract]

"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. 277:12970-12977(2002) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of human aspartate beta-hydroxylase isoform A."
Submitted (MAY-2011) to the PDB data bank

"Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome."
Am. J. Hum. Genet. 94:755-759(2014) [PubMed] [Europe PMC] [Abstract]