ASPH

Aspartate beta-hydroxylase
Identifiers
Symbols	ASPH ; BAH; CASQ2BP1; HAAH; JCTN; junctin
External IDs	Template:OMIM5 Template:MGI HomoloGene: 20910
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Aspartate beta-hydroxylase, also known as ASPH, is a human gene.

This gene is thought to play an important role in calcium homeostasis. Alternative splicing of this gene results in five transcript variants which vary in protein translation, the coding of catalytic domains, and tissue expression. Variation among these transcripts impacts their functions which involve roles in the calcium storage and release process in the endoplasmic and sarcoplasmic reticulum as well as hydroxylation of aspartic acid and asparagine in epidermal growth factor-like domains of various proteins.

Further reading

• Hirota K, Semenza GL (2005). "Regulation of hypoxia-inducible factor 1 by prolyl and asparaginyl hydroxylases". Biochem. Biophys. Res. Commun. 338 (1): 610–6. doi:10.1016/j.bbrc.2005.08.193. PMID 16154531.
• Korioth F, Gieffers C, Frey J (1995). "Cloning and characterization of the human gene encoding aspartyl beta-hydroxylase". Gene. 150 (2): 395–9. PMID 7821814.CS1 maint: Multiple names: authors list (link)
• Lavaissiere L, Jia S, Nishiyama M; et al. (1996). "Overexpression of human aspartyl(asparaginyl)beta-hydroxylase in hepatocellular carcinoma and cholangiocarcinoma". J. Clin. Invest. 98 (6): 1313–23. PMID 8823296.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zhang L, Kelley J, Schmeisser G; et al. (1997). "Complex formation between junctin, triadin, calsequestrin, and the ryanodine receptor. Proteins of the cardiac junctional sarcoplasmic reticulum membrane". J. Biol. Chem. 272 (37): 23389–97. PMID 9287354.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wetzel GT, Ding S, Chen F (2000). "Molecular cloning of junctin from human and developing rabbit heart". Mol. Genet. Metab. 69 (3): 252–8. doi:10.1006/mgme.2000.2966. PMID 10767180.CS1 maint: Multiple names: authors list (link)
• Dinchuk JE, Henderson NL, Burn TC; et al. (2001). "Aspartyl beta -hydroxylase (Asph) and an evolutionarily conserved isoform of Asph missing the catalytic domain share exons with junctin". J. Biol. Chem. 275 (50): 39543–54. doi:10.1074/jbc.M006753200. PMID 10956665.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lim KY, Hong CS, Kim DH (2000). "cDNA cloning and characterization of human cardiac junctin". Gene. 255 (1): 35–42. PMID 10974562.CS1 maint: Multiple names: authors list (link)
• Treves S, Feriotto G, Moccagatta L; et al. (2001). "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 (50): 39555–68. doi:10.1074/jbc.M005473200. PMID 11007777.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kirchhefer U, Neumann J, Baba HA; et al. (2001). "Cardiac hypertrophy and impaired relaxation in transgenic mice overexpressing triadin 1". J. Biol. Chem. 276 (6): 4142–9. doi:10.1074/jbc.M006443200. PMID 11069905.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sepe PS, Lahousse SA, Gemelli B; et al. (2002). "Role of the aspartyl-asparaginyl-beta-hydroxylase gene in neuroblastoma cell motility". Lab. Invest. 82 (7): 881–91. PMID 12118090.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ho SP, Scully MS, Krauthauser CM; et al. (2002). "Antisense oligonucleotides selectively regulate aspartyl beta-hydroxylase and its truncated protein isoform in vitro but distribute poorly into A549 tumors in vivo". J. Pharmacol. Exp. Ther. 302 (2): 795–803. PMID 12130746.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Maeda T, Sepe P, Lahousse S; et al. (2004). "Antisense oligodeoxynucleotides directed against aspartyl (asparaginyl) beta-hydroxylase suppress migration of cholangiocarcinoma cells". J. Hepatol. 38 (5): 615–22. PMID 12713872.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Treves S, Franzini-Armstrong C, Moccagatta L; et al. (2004). "Junctate is a key element in calcium entry induced by activation of InsP3 receptors and/or calcium store depletion". J. Cell Biol. 166 (4): 537–48. doi:10.1083/jcb.200404079. PMID 15302852.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Beausoleil SA, Jedrychowski M, Schwartz D; et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMID 15302935.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Xian ZH, Zhang SH, Cong WM; et al. (2006). "Expression of aspartyl beta-hydroxylase and its clinicopathological significance in hepatocellular carcinoma". Mod. Pathol. 19 (2): 280–6. doi:10.1038/modpathol.3800530. PMID 16341145.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• de la Monte SM, Tamaki S, Cantarini MC; et al. (2006). "Aspartyl-(asparaginyl)-beta-hydroxylase regulates hepatocellular carcinoma invasiveness". J. Hepatol. 44 (5): 971–83. doi:10.1016/j.jhep.2006.01.038. PMID 16564107.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Feldmann G, Nattermann J, Nischalke HD; et al. (2006). "Detection of human aspartyl (asparaginyl) beta-hydroxylase and homeobox B7 mRNA in brush cytology specimens from patients with bile duct cancer". Endoscopy. 38 (6): 604–9. doi:10.1055/s-2006-925065. PMID 16673309.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gundogan F, Elwood G, Greco D; et al. (2007). "Role of aspartyl-(asparaginyl) beta-hydroxylase in placental implantation: Relevance to early pregnancy loss". Hum. Pathol. 38 (1): 50–9. doi:10.1016/j.humpath.2006.06.005. PMID 16949909.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)