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{{For|camera lenses|Aspheric lens#Camera lenses}}
{{PBB_Controls
{{Infobox_gene}}
| update_page = yes
'''Aspartyl/asparaginyl beta-hydroxylase''' (''HAAH'') is an [[enzyme]] that in humans is encoded by the ''ASPH'' [[gene]].<ref name="pmid7821814">{{cite journal |vauthors=Korioth F, Gieffers C, Frey J | title = Cloning and characterization of the human gene encoding aspartyl beta-hydroxylase | journal = Gene | volume = 150 | issue = 2 | pages = 395–9 |date=Feb 1995 | pmid = 7821814 | pmc =  | doi =10.1016/0378-1119(94)90460-X  }}</ref><ref name="pmid10974562">{{cite journal |vauthors=Lim KY, Hong CS, Kim DH | title = cDNA cloning and characterization of human cardiac junctin | journal = Gene | volume = 255 | issue = 1 | pages = 35–42 |date=Nov 2000 | pmid = 10974562 | pmc =  | doi =10.1016/S0378-1119(00)00299-7  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ASPH aspartate beta-hydroxylase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=444| accessdate = }}</ref> ASPH is a member of the non-haem Fe(II) and [[2-oxoglutarate (2OG)-dependent dioxygenases]].
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| update_protein_box = yes
== Function ==
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| update_citations = yes
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.<ref name="entrez" />
}}
 
== Clinical significance ==


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
As early as 1996, the over-expression of ''HAAH'' was recognized as an indicator of carcinoma in humans.  Further research has correlated elevated ''HAAH'' levels (variously in affected tissue or [[blood serum]]) with hepatocellular ([[liver]]) [[carcinoma]]<ref name="Ince_2000">{{cite journal |vauthors=Ince N, de la Monte SM, Wands JR | title = Overexpression of human aspartyl (asparaginyl) beta-hydroxylase is associated with malignant transformation | journal = Cancer Res. | volume = 60 | issue = 5 | pages = 1261–6 |date=March 2000 | pmid = 10728685 | doi =  }}</ref><ref name="Xue_2009">{{cite journal |vauthors=Xue T, Xue XP, Huang QS, Wei L, Sun K, Xue T | title = Monoclonal antibodies against human aspartyl (asparaginyl) beta-hydroxylase developed by DNA immunization | journal = Hybridoma (Larchmt) | volume = 28 | issue = 4 | pages = 251–7 |date=August 2009 | pmid = 19663697 | doi = 10.1089/hyb.2009.0017 }}</ref> [[adenocarcinoma]] ([[pancreatic cancer]]),<ref name="Palumbo_2002">{{cite journal |vauthors=Palumbo KS, Wands JR, Safran H, King T, Carlson RI, de la Monte SM | title = Human aspartyl (asparaginyl) beta-hydroxylase monoclonal antibodies: potential biomarkers for pancreatic carcinoma | journal = Pancreas | volume = 25 | issue = 1 | pages = 39–44 |date=July 2002 | pmid = 12131769 | doi = 10.1097/00006676-200207000-00010}}</ref> [[colorectal cancer]],<ref name="urlCC Detect - Serum-Based Diagnostic Test For Colon Cancer Available">{{cite web | url = http://www.emaxhealth.com/100/18177.html | title = CC Detect - Serum-Based Diagnostic Test For Colon Cancer Available | date = | work = | publisher =  | quote = | accessdate = }}</ref> [[prostate cancer]].<ref name="Xue_2009" /> and [[lung cancer]].<ref name="pmid17986689">{{cite journal | author = Hampton T | title = New screening techniques show potential for early detection of lung cancer | journal = JAMA | volume = 298 | issue = 17 | pages = 1997 |date=November 2007 | pmid = 17986689 | doi = 10.1001/jama.298.17.1997 | url = }}</ref> The pancreatic study<ref name="Palumbo_2002" /> showed elevated ''HAAH'' only in diseased tissue, but not in adjacent normal and inflamed tissue.
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Aspartate beta-hydroxylase
| HGNCid = 757
| Symbol = ASPH
| AltSymbols =; BAH; CASQ2BP1; HAAH; JCTN; junctin
| OMIM = 600582
| ECnumber =
| Homologene = 20910
| MGIid = 1914186
  | GeneAtlas_image1 = PBB_GE_ASPH_207284_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_ASPH_209135_at_tn.png
| GeneAtlas_image3 = PBB_GE_ASPH_210896_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004597 |text = peptide-aspartate beta-dioxygenase activity}} {{GNF_GO|id=GO:0005488 |text = binding}} {{GNF_GO|id=GO:0005506 |text = iron ion binding}} {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0008307 |text = structural constituent of muscle}} {{GNF_GO|id=GO:0009055 |text = electron carrier activity}} {{GNF_GO|id=GO:0016702 |text = oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen}}
| Component = {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0005789 |text = endoplasmic reticulum membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0030176 |text = integral to endoplasmic reticulum membrane}}
| Process = {{GNF_GO|id=GO:0006936 |text = muscle contraction}} {{GNF_GO|id=GO:0008150 |text = biological_process}} {{GNF_GO|id=GO:0018193 |text = peptidyl-amino acid modification}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 444
    | Hs_Ensembl = ENSG00000198363
    | Hs_RefseqProtein = NP_004309
    | Hs_RefseqmRNA = NM_004318
    | Hs_GenLoc_db =   
    | Hs_GenLoc_chr = 8
    | Hs_GenLoc_start = 62578374
    | Hs_GenLoc_end = 62789681
    | Hs_Uniprot = Q12797
    | Mm_EntrezGene = 65973
    | Mm_Ensembl = ENSMUSG00000028207
    | Mm_RefseqmRNA = NM_023066
    | Mm_RefseqProtein = NP_075553
    | Mm_GenLoc_db =
    | Mm_GenLoc_chr = 4
    | Mm_GenLoc_start = 9378438
    | Mm_GenLoc_end = 9596255
    | Mm_Uniprot = Q9EQ69
  }}
}}
'''Aspartate beta-hydroxylase''', also known as '''ASPH''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ASPH aspartate beta-hydroxylase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=444| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
Mutations in ASPH cause {{SWL|type=mutation_results_in|target=Traboulsi syndrome|label=Traboulsi syndrome}}.{{Cite journal
{{PBB_Summary
  | pmid = 24768550
| section_title =  
| year = 2014
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: ASPH aspartate beta-hydroxylase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=444| accessdate = }}</ref>
| author1 = Patel
| first1 = N
| title = Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome
| journal = The American Journal of Human Genetics
| last2 = Khan
| first2 = A. O.
| last3 = Mansour
| first3 = A
| last4 = Mohamed
| first4 = J. Y.
| last5 = Al-Assiri
| first5 = A
| last6 = Haddad
| first6 = R
| last7 = Jia
| first7 = X
| last8 = Xiong
| first8 = Y
| last9 = Mégarbané
| first9 = A
| last10 = Traboulsi
| first10 = E. I.
| last11 = Alkuraya
| first11 = F. S.
| doi = 10.1016/j.ajhg.2014.04.002
| volume=94
| issue=5
| pages=755–9
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
{{Clear}}
 
==External links==
* {{UCSC gene info|ASPH}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  |vauthors=Hirota K, Semenza GL |title=Regulation of hypoxia-inducible factor 1 by prolyl and asparaginyl hydroxylases |journal=Biochem. Biophys. Res. Commun. |volume=338 |issue= 1 |pages= 610–6 |year= 2005 |pmid= 16154531 |doi= 10.1016/j.bbrc.2005.08.193 }}
| citations =
*{{cite journal  |vauthors=Lavaissiere L, Jia S, Nishiyama M |title=Overexpression of human aspartyl(asparaginyl)beta-hydroxylase in hepatocellular carcinoma and cholangiocarcinoma |journal=J. Clin. Invest. |volume=98 |issue= 6 |pages= 1313–23 |year= 1996 |pmid= 8823296 |doi=10.1172/JCI118918  | pmc=507557 |display-authors=etal}}
*{{cite journal  | author=Hirota K, Semenza GL |title=Regulation of hypoxia-inducible factor 1 by prolyl and asparaginyl hydroxylases. |journal=Biochem. Biophys. Res. Commun. |volume=338 |issue= 1 |pages= 610-6 |year= 2005 |pmid= 16154531 |doi= 10.1016/j.bbrc.2005.08.193 }}
*{{cite journal  |vauthors=Zhang L, Kelley J, Schmeisser G |title=Complex formation between junctin, triadin, calsequestrin, and the ryanodine receptor. Proteins of the cardiac junctional sarcoplasmic reticulum membrane |journal=J. Biol. Chem. |volume=272 |issue= 37 |pages= 23389–97 |year= 1997 |pmid= 9287354 |doi=10.1074/jbc.272.37.23389 |display-authors=etal}}
*{{cite journal  | author=Korioth F, Gieffers C, Frey J |title=Cloning and characterization of the human gene encoding aspartyl beta-hydroxylase. |journal=Gene |volume=150 |issue= 2 |pages= 395-9 |year= 1995 |pmid= 7821814 |doi=  }}
*{{cite journal  |vauthors=Wetzel GT, Ding S, Chen F |title=Molecular cloning of junctin from human and developing rabbit heart |journal=Mol. Genet. Metab. |volume=69 |issue= 3 |pages= 252–8 |year= 2000 |pmid= 10767180 |doi= 10.1006/mgme.2000.2966 }}
*{{cite journal  | author=Lavaissiere L, Jia S, Nishiyama M, ''et al.'' |title=Overexpression of human aspartyl(asparaginyl)beta-hydroxylase in hepatocellular carcinoma and cholangiocarcinoma. |journal=J. Clin. Invest. |volume=98 |issue= 6 |pages= 1313-23 |year= 1996 |pmid= 8823296 |doi=  }}
*{{cite journal  |vauthors=Dinchuk JE, Henderson NL, Burn TC |title=Aspartyl beta -hydroxylase (Asph) and an evolutionarily conserved isoform of Asph missing the catalytic domain share exons with junctin |journal=J. Biol. Chem. |volume=275 |issue= 50 |pages= 39543–54 |year= 2001 |pmid= 10956665 |doi= 10.1074/jbc.M006753200 |display-authors=etal}}
*{{cite journal  | author=Zhang L, Kelley J, Schmeisser G, ''et al.'' |title=Complex formation between junctin, triadin, calsequestrin, and the ryanodine receptor. Proteins of the cardiac junctional sarcoplasmic reticulum membrane. |journal=J. Biol. Chem. |volume=272 |issue= 37 |pages= 23389-97 |year= 1997 |pmid= 9287354 |doi= }}
*{{cite journal  |vauthors=Treves S, Feriotto G, Moccagatta L |title=Molecular cloning, expression, functional characterization, chromosomal localization, and gene structure of junctate, a novel integral calcium binding protein of sarco(endo)plasmic reticulum membrane |journal=J. Biol. Chem. |volume=275 |issue= 50 |pages= 39555–68 |year= 2001 |pmid= 11007777 |doi= 10.1074/jbc.M005473200 |display-authors=etal}}
*{{cite journal  | author=Wetzel GT, Ding S, Chen F |title=Molecular cloning of junctin from human and developing rabbit heart. |journal=Mol. Genet. Metab. |volume=69 |issue= 3 |pages= 252-8 |year= 2000 |pmid= 10767180 |doi= 10.1006/mgme.2000.2966 }}
*{{cite journal  |vauthors=Kirchhefer U, Neumann J, Baba HA |title=Cardiac hypertrophy and impaired relaxation in transgenic mice overexpressing triadin 1 |journal=J. Biol. Chem. |volume=276 |issue= 6 |pages= 4142–9 |year= 2001 |pmid= 11069905 |doi= 10.1074/jbc.M006443200 |display-authors=etal}}
*{{cite journal  | author=Dinchuk JE, Henderson NL, Burn TC, ''et al.'' |title=Aspartyl beta -hydroxylase (Asph) and an evolutionarily conserved isoform of Asph missing the catalytic domain share exons with junctin. |journal=J. Biol. Chem. |volume=275 |issue= 50 |pages= 39543-54 |year= 2001 |pmid= 10956665 |doi= 10.1074/jbc.M006753200 }}
*{{cite journal  |vauthors=Sepe PS, Lahousse SA, Gemelli B |title=Role of the aspartyl-asparaginyl-beta-hydroxylase gene in neuroblastoma cell motility |journal=Lab. Invest. |volume=82 |issue= 7 |pages= 881–91 |year= 2002 |pmid= 12118090 |doi= 10.1097/01.lab.0000020406.91689.7f|display-authors=etal}}
*{{cite journal  | author=Lim KY, Hong CS, Kim DH |title=cDNA cloning and characterization of human cardiac junctin. |journal=Gene |volume=255 |issue= 1 |pages= 35-42 |year= 2000 |pmid= 10974562 |doi= }}
*{{cite journal  |vauthors=Ho SP, Scully MS, Krauthauser CM |title=Antisense oligonucleotides selectively regulate aspartyl beta-hydroxylase and its truncated protein isoform in vitro but distribute poorly into A549 tumors in vivo |journal=J. Pharmacol. Exp. Ther. |volume=302 |issue= 2 |pages= 795–803 |year= 2002 |pmid= 12130746 |doi=10.1124/jpet.302.2.795  |display-authors=etal}}
*{{cite journal  | author=Treves S, Feriotto G, Moccagatta L, ''et al.'' |title=Molecular cloning, expression, functional characterization, chromosomal localization, and gene structure of junctate, a novel integral calcium binding protein of sarco(endo)plasmic reticulum membrane. |journal=J. Biol. Chem. |volume=275 |issue= 50 |pages= 39555-68 |year= 2001 |pmid= 11007777 |doi= 10.1074/jbc.M005473200 }}
*{{cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Kirchhefer U, Neumann J, Baba HA, ''et al.'' |title=Cardiac hypertrophy and impaired relaxation in transgenic mice overexpressing triadin 1. |journal=J. Biol. Chem. |volume=276 |issue= 6 |pages= 4142-9 |year= 2001 |pmid= 11069905 |doi= 10.1074/jbc.M006443200 }}
*{{cite journal  |vauthors=Maeda T, Sepe P, Lahousse S |title=Antisense oligodeoxynucleotides directed against aspartyl (asparaginyl) beta-hydroxylase suppress migration of cholangiocarcinoma cells |journal=J. Hepatol. |volume=38 |issue= 5 |pages= 615–22 |year= 2004 |pmid= 12713872 |doi=10.1016/S0168-8278(03)00052-7 |display-authors=etal}}
*{{cite journal  | author=Sepe PS, Lahousse SA, Gemelli B, ''et al.'' |title=Role of the aspartyl-asparaginyl-beta-hydroxylase gene in neuroblastoma cell motility. |journal=Lab. Invest. |volume=82 |issue= 7 |pages= 881-91 |year= 2002 |pmid= 12118090 |doi=  }}
*{{cite journal  |vauthors=Treves S, Franzini-Armstrong C, Moccagatta L |title=Junctate is a key element in calcium entry induced by activation of InsP3 receptors and/or calcium store depletion |journal=J. Cell Biol. |volume=166 |issue= 4 |pages= 537–48 |year= 2004 |pmid= 15302852 |doi= 10.1083/jcb.200404079  | pmc=1868564 |display-authors=etal}}
*{{cite journal  | author=Ho SP, Scully MS, Krauthauser CM, ''et al.'' |title=Antisense oligonucleotides selectively regulate aspartyl beta-hydroxylase and its truncated protein isoform in vitro but distribute poorly into A549 tumors in vivo. |journal=J. Pharmacol. Exp. Ther. |volume=302 |issue= 2 |pages= 795-803 |year= 2002 |pmid= 12130746 |doi=  }}
*{{cite journal  |vauthors=Beausoleil SA, Jedrychowski M, Schwartz D |title=Large-scale characterization of HeLa cell nuclear phosphoproteins |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 33 |pages= 12130–5 |year= 2004 |pmid= 15302935 |doi= 10.1073/pnas.0404720101 | pmc=514446 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  |vauthors=Xian ZH, Zhang SH, Cong WM |title=Expression of aspartyl beta-hydroxylase and its clinicopathological significance in hepatocellular carcinoma |journal=Mod. Pathol. |volume=19 |issue= 2 |pages= 280–6 |year= 2006 |pmid= 16341145 |doi= 10.1038/modpathol.3800530 |display-authors=etal}}
*{{cite journal  | author=Maeda T, Sepe P, Lahousse S, ''et al.'' |title=Antisense oligodeoxynucleotides directed against aspartyl (asparaginyl) beta-hydroxylase suppress migration of cholangiocarcinoma cells. |journal=J. Hepatol. |volume=38 |issue= 5 |pages= 615-22 |year= 2004 |pmid= 12713872 |doi=  }}
*{{cite journal  |vauthors=de la Monte SM, Tamaki S, Cantarini MC |title=Aspartyl-(asparaginyl)-beta-hydroxylase regulates hepatocellular carcinoma invasiveness |journal=J. Hepatol. |volume=44 |issue= 5 |pages= 971–83 |year= 2006 |pmid= 16564107 |doi= 10.1016/j.jhep.2006.01.038 |display-authors=etal}}
*{{cite journal  | author=Treves S, Franzini-Armstrong C, Moccagatta L, ''et al.'' |title=Junctate is a key element in calcium entry induced by activation of InsP3 receptors and/or calcium store depletion. |journal=J. Cell Biol. |volume=166 |issue= 4 |pages= 537-48 |year= 2004 |pmid= 15302852 |doi= 10.1083/jcb.200404079 }}
*{{cite journal  |vauthors=Feldmann G, Nattermann J, Nischalke HD |title=Detection of human aspartyl (asparaginyl) beta-hydroxylase and homeobox B7 mRNA in brush cytology specimens from patients with bile duct cancer |journal=Endoscopy |volume=38 |issue= 6 |pages= 604–9 |year= 2006 |pmid= 16673309 |doi= 10.1055/s-2006-925065 |display-authors=etal}}
*{{cite journal  | author=Beausoleil SA, Jedrychowski M, Schwartz D, ''et al.'' |title=Large-scale characterization of HeLa cell nuclear phosphoproteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 33 |pages= 12130-5 |year= 2004 |pmid= 15302935 |doi= 10.1073/pnas.0404720101 }}
*{{cite journal  |vauthors=Gundogan F, Elwood G, Greco D |title=Role of aspartyl-(asparaginyl) beta-hydroxylase in placental implantation: Relevance to early pregnancy loss |journal=Hum. Pathol. |volume=38 |issue= 1 |pages= 50–9 |year= 2007 |pmid= 16949909 |doi= 10.1016/j.humpath.2006.06.005 |display-authors=etal}}
*{{cite journal  | author=Xian ZH, Zhang SH, Cong WM, ''et al.'' |title=Expression of aspartyl beta-hydroxylase and its clinicopathological significance in hepatocellular carcinoma. |journal=Mod. Pathol. |volume=19 |issue= 2 |pages= 280-6 |year= 2006 |pmid= 16341145 |doi= 10.1038/modpathol.3800530 }}
*{{cite journal  | author=de la Monte SM, Tamaki S, Cantarini MC, ''et al.'' |title=Aspartyl-(asparaginyl)-beta-hydroxylase regulates hepatocellular carcinoma invasiveness. |journal=J. Hepatol. |volume=44 |issue= 5 |pages= 971-83 |year= 2006 |pmid= 16564107 |doi= 10.1016/j.jhep.2006.01.038 }}
*{{cite journal  | author=Feldmann G, Nattermann J, Nischalke HD, ''et al.'' |title=Detection of human aspartyl (asparaginyl) beta-hydroxylase and homeobox B7 mRNA in brush cytology specimens from patients with bile duct cancer. |journal=Endoscopy |volume=38 |issue= 6 |pages= 604-9 |year= 2006 |pmid= 16673309 |doi= 10.1055/s-2006-925065 }}
*{{cite journal  | author=Gundogan F, Elwood G, Greco D, ''et al.'' |title=Role of aspartyl-(asparaginyl) beta-hydroxylase in placental implantation: Relevance to early pregnancy loss. |journal=Hum. Pathol. |volume=38 |issue= 1 |pages= 50-9 |year= 2007 |pmid= 16949909 |doi= 10.1016/j.humpath.2006.06.005 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
{{Dioxygenases}}
{{WikiDoc Sources}}
{{Enzymes}}
{{Portal bar|Molecular and Cellular Biology|border=no}}
 
[[Category:Human 2OG oxygenases]]
[[Category:EC 1.14.11]]
 
 
{{gene-8-stub}}

Revision as of 09:31, 23 November 2017

For camera lenses, see Aspheric lens § Camera lenses.
VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Aspartyl/asparaginyl beta-hydroxylase (HAAH) is an enzyme that in humans is encoded by the ASPH gene.[1][2][3] ASPH is a member of the non-haem Fe(II) and 2-oxoglutarate (2OG)-dependent dioxygenases.

Function

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.[3]

Clinical significance

As early as 1996, the over-expression of HAAH was recognized as an indicator of carcinoma in humans. Further research has correlated elevated HAAH levels (variously in affected tissue or blood serum) with hepatocellular (liver) carcinoma[4][5] adenocarcinoma (pancreatic cancer),[6] colorectal cancer,[7] prostate cancer.[5] and lung cancer.[8] The pancreatic study[6] showed elevated HAAH only in diseased tissue, but not in adjacent normal and inflamed tissue.

Mutations in ASPH cause Traboulsi syndrome .Patel, N; Khan, A. O.; Mansour, A; Mohamed, J. Y.; Al-Assiri, A; Haddad, R; Jia, X; Xiong, Y; Mégarbané, A; Traboulsi, E. I.; Alkuraya, F. S. (2014). "Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome". The American Journal of Human Genetics. 94 (5): 755–9. doi:10.1016/j.ajhg.2014.04.002. PMID 24768550.

References

  1. ↑ Korioth F, Gieffers C, Frey J (Feb 1995). "Cloning and characterization of the human gene encoding aspartyl beta-hydroxylase". Gene. 150 (2): 395–9. doi:10.1016/0378-1119(94)90460-X. PMID 7821814.
  2. ↑ Lim KY, Hong CS, Kim DH (Nov 2000). "cDNA cloning and characterization of human cardiac junctin". Gene. 255 (1): 35–42. doi:10.1016/S0378-1119(00)00299-7. PMID 10974562.
  3. ↑ 3.0 3.1 "Entrez Gene: ASPH aspartate beta-hydroxylase".
  4. ↑ Ince N, de la Monte SM, Wands JR (March 2000). "Overexpression of human aspartyl (asparaginyl) beta-hydroxylase is associated with malignant transformation". Cancer Res. 60 (5): 1261–6. PMID 10728685.
  5. ↑ 5.0 5.1 Xue T, Xue XP, Huang QS, Wei L, Sun K, Xue T (August 2009). "Monoclonal antibodies against human aspartyl (asparaginyl) beta-hydroxylase developed by DNA immunization". Hybridoma (Larchmt). 28 (4): 251–7. doi:10.1089/hyb.2009.0017. PMID 19663697.
  6. ↑ 6.0 6.1 Palumbo KS, Wands JR, Safran H, King T, Carlson RI, de la Monte SM (July 2002). "Human aspartyl (asparaginyl) beta-hydroxylase monoclonal antibodies: potential biomarkers for pancreatic carcinoma". Pancreas. 25 (1): 39–44. doi:10.1097/00006676-200207000-00010. PMID 12131769.
  7. ↑ "CC Detect - Serum-Based Diagnostic Test For Colon Cancer Available".
  8. ↑ Hampton T (November 2007). "New screening techniques show potential for early detection of lung cancer". JAMA. 298 (17): 1997. doi:10.1001/jama.298.17.1997. PMID 17986689.

External links

Further reading


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