ASPH
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesASPH, AAH, BAH, CASQ2BP1, FDLAB, HAAH, JCTN, junctin, aspartate beta-hydroxylase
External IDsOMIM: 600582 MGI: 1914186 HomoloGene: 20910 GeneCards: ASPH
EC number1.14.11.16
Orthologs
SpeciesHumanMouse
Entrez

444

65973

Ensembl

ENSG00000198363

ENSMUSG00000028207

UniProt

Q12797

Q8BSY0

RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 8: 61.5 – 61.71 MbChr 4: 9.45 – 9.67 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Aspartyl/asparaginyl beta-hydroxylase (HAAH) is an enzyme that in humans is encoded by the ASPH gene.[5][6][7] ASPH is an alpha-ketoglutarate-dependent hydroxylase, a superfamily non-haem iron-containing proteins.

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.[7]

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[8][9] adenocarcinoma (pancreatic cancer),[10] colorectal cancer,[11] prostate cancer.[9] and lung cancer.[12] The pancreatic study[10] showed elevated HAAH only in diseased tissue, but not in adjacent normal and inflamed tissue.

Mutations in ASPH cause Traboulsi syndrome.[13]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000198363 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028207 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ↑ Korioth F, Gieffers C, Frey J (December 1994). "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.
  6. ↑ Lim KY, Hong CS, Kim DH (September 2000). "cDNA cloning and characterization of human cardiac junctin". Gene. 255 (1): 35–42. doi:10.1016/S0378-1119(00)00299-7. PMID 10974562.
  7. 1 2 "Entrez Gene: ASPH aspartate beta-hydroxylase".
  8. ↑ Ince N, de la Monte SM, Wands JR (March 2000). "Overexpression of human aspartyl (asparaginyl) beta-hydroxylase is associated with malignant transformation". Cancer Research. 60 (5): 1261–6. PMID 10728685.
  9. 1 2 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. 28 (4): 251–7. doi:10.1089/hyb.2009.0017. PMID 19663697.
  10. 1 2 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. S2CID 2098747.
  11. ↑ "CC Detect - Serum-Based Diagnostic Test For Colon Cancer Available". Archived from the original on 2021-02-08. Retrieved 2011-11-29.
  12. ↑ 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.
  13. ↑ Patel N, Khan AO, Mansour A, Mohamed JY, Al-Assiri A, Haddad R, et al. (May 2014). "Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome". American Journal of Human Genetics. 94 (5): 755–9. doi:10.1016/j.ajhg.2014.04.002. PMC 4067561. PMID 24768550.

Further reading

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