Function
specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins.; membrane-bound Ca(2+)-sensing protein, which is a structural component of the ER-plasma membrane junctions. Isoform 8 regulates the activity of Ca(+2) released-activated Ca(+2) (CRAC) channels in T-cells.
Gene References into Functions
- the role of FTH1 in the FIH control of HIF-1 activity, is reported. PMID: 29580991
- the hydroxylase activity of ASPH affected HCC metastasis through interacting with vimentin and regulating EMT. As such, ASPH might be a promising therapeutic target of HCC. PMID: 29764768
- Higher levels of HAAH/humbug mRNA were found in the hepatocellular carcinoma tissues relative to the adjacent cancerfree tissue. PMID: 25394783
- this study provides evidence that ASPH is mutated in a distinct form of syndromic ectopia lentis. PMID: 24768550
- Data show that junctate (ASPH) is an interacting partner of Orai1-STIM1 complex. PMID: 22586105
- Ca(2+) and JNT-dependent disassembly of the CSQ2 polymer PMID: 22123818
- Aspartyl-asparaginyl-beta-hydroxylase is an important, positive regulator of trophoblastic cell motility, and it's inhibition in vivo leads to impaired implantation and fetal growth, and alters Notch-signaling mechanisms. PMID: 21862239
- Low expression of AAH in the endochylema and nucleus of trephocyte may play a role in patients with missed abortion. PMID: 19197126
- role of gene in neuroblastoma cell motility PMID: 12118090
- AAH over-expression may contribute to the infiltrative growth pattern of cholangiocarcinoma cells by promoting motility. PMID: 12713872
- junctate has a role in calcium homeostasis in eukaryotic cells PMID: 15302852
- This review summarizes recent progress in elucidating the molecular mechanisms of hypoxia-inducible factor (HIF)-1 activation, focusing on the role of oxygen-dependent prolyl hydroxylase in hypoxia signal transduction. PMID: 16154531
- Overexpression of aspartyl beta-hydroxylase plays a role in the development and progression of hepatocellular carcinoma. PMID: 16341145
- enhanced AAH gene activity is a common feature of human hepatocellular carcinoma and growth factor signaling through IRS-1 regulates AAH expression and increases cell motility and invasion PMID: 16564107
- Human aspartyl (asparaginyl) beta-hydroxylase (HAAH) mRNA is overexpressed in biliary cancer cell lines and possibly involved in the pathogenesis of bile duct cancer. PMID: 16673309
- Abundant AAH expression in trophoblasts as well as in decidua and endometrial glands, with reduced expression in spontaneous abortion and small-for-gestational-age term deliveries, suggesting that AAH may serve as a biomarker of impaired implantation. PMID: 16949909
- Study demonstrates that high levels of humbug immunoreactivity in colon carcinomas correlate with histologic grade and tumor behavior, suggesting that humbug can serve as a prognostic biomarker. PMID: 17020779
- AAH and Humbug are over-expressed in SH-Sy5y neuroblastoma cells, and their mRNAs are regulated by insulin/IGF-1 signaling through Erk MAPK, PI3 kinase-Akt, and Cdk-5, which are known mediators of cell migration. PMID: 17156427
- Expression analysis showed that the mRNA expression level of humbug was correlated with invasive potential in various human gastric cancer cell lines. PMID: 18288418
- USF1 and USF2 positively regulate the core of P1 promoter od AAH. PMID: 19087304
- High levels of aspartyl (asparaginyl)-beta-hydroxylase/humbug correlate with poor prognosis in non-small cell lung cancer, particularly squamous cell carcinoma subtype. PMID: 19200576
- analysis of aspartyl (asparaginyl) beta-hydroxylase monoclonal antibodies PMID: 19663697
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Involvement in disease
Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB)
Subcellular Location
[Isoform 1]: Endoplasmic reticulum membrane; Single-pass type II membrane protein.; [Isoform 4]: Sarcoplasmic reticulum membrane; Single-pass type II membrane protein.; [Isoform 8]: Endoplasmic reticulum membrane; Single-pass type II membrane protein.
Protein Families
Aspartyl/asparaginyl beta-hydroxylase family
Tissue Specificity
Isoform 1 is detected in all tissues tested. Isoform 8 is mainly expressed in pancreas, heart, brain, kidney and liver. Isoform 8 is expressed in kidney (at protein level).