U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    ASPH aspartate beta-hydroxylase [ Homo sapiens (human) ]

    Gene ID: 444, updated on 10-Oct-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort.

    Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort.
    Chen ZX, Jia WN, Sun Y, Jiang YX.

    09/16/2024
    Overexpression of ASPH protein predicts poor outcomes in retroperitoneal liposarcoma patients.

    Overexpression of ASPH protein predicts poor outcomes in retroperitoneal liposarcoma patients.
    Xiao M, Chen X, Chen W, Wang L, Rao X, Luo C., Free PMC Article

    09/7/2023
    Aspartate beta-hydroxylase (ASPH) Accelerates Intrahepatic Cholangiocarcinoma Metastasis via Upregulating SHH Signaling Pathway.

    Aspartate β-hydroxylase (ASPH) Accelerates Intrahepatic Cholangiocarcinoma Metastasis via Upregulating SHH Signaling Pathway.
    Zou Y, Lin J, Liu J, Zhang F, Yang T, Gong J, Jiang T, Zuo J, Song R, Shen H, Shen F, Li J.

    07/24/2023
    Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.

    Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.
    Jones G, Johnson K, Eason J, Hamilton M, Osio D, Kanani F, Baptista J, Suri M.

    09/24/2022
    Overexpression of Human Aspartyl (Asparaginyl) beta-hydroxylase in NSCLC: Its Diagnostic Value by Means of Exosomes of Bronchoalveolar Lavage.

    Overexpression of Human Aspartyl (Asparaginyl) β-hydroxylase in NSCLC: Its Diagnostic Value by Means of Exosomes of Bronchoalveolar Lavage.
    Zhu H, Liu H, Wen J, Yuan T, Ren G, Jiang Y, Yuan Y, Mei J, Yu Y, Li G.

    03/12/2022
    Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH.

    Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH.
    Van Hoorde T, Nerinckx F, Kreps E, Roels D, Huyghe P, Van Heetvelde M, Verdin H, De Baere E, Balikova I, Leroy BP.

    01/29/2022
    Human Oxygenase Variants Employing a Single Protein Fe(II) Ligand Are Catalytically Active.

    Human Oxygenase Variants Employing a Single Protein Fe(II) Ligand Are Catalytically Active.
    Brasnett A, Pfeffer I, Brewitz L, Chowdhury R, Nakashima Y, Tumber A, McDonough MA, Schofield CJ., Free PMC Article

    11/13/2021
    A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome.

    A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome.
    Senthil S, Sharma S, Vishwakarma S, Kaur I.

    09/4/2021
    Diverse molecular functions of aspartate betahydroxylase in cancer (Review).

    Diverse molecular functions of aspartate β‑hydroxylase in cancer (Review).
    Zheng W, Wang X, Hu J, Bai B, Zhu H., Free PMC Article

    07/31/2021
    Aspartate beta-hydroxylase targeting in castration-resistant prostate cancer modulates the NOTCH/HIF1alpha/GSK3beta crosstalk.

    Aspartate β-hydroxylase targeting in castration-resistant prostate cancer modulates the NOTCH/HIF1α/GSK3β crosstalk.
    Barboro P, Benelli R, Tosetti F, Costa D, Capaia M, Astigiano S, Venè R, Poggi A, Ferrari N.

    05/29/2021
    Characterization of the Relationship Between the Expression of Aspartate beta-Hydroxylase and the Pathological Characteristics of Breast Cancer.

    Characterization of the Relationship Between the Expression of Aspartate β-Hydroxylase and the Pathological Characteristics of Breast Cancer.
    Zhang Y, Gao Y, Li Y, Zhang X, Xie H., Free PMC Article

    05/15/2021
    Kinetic parameters of human aspartate/asparagine-beta-hydroxylase suggest that it has a possible function in oxygen sensing.

    Kinetic parameters of human aspartate/asparagine-β-hydroxylase suggest that it has a possible function in oxygen sensing.
    Brewitz L, Tumber A, Schofield CJ., Free PMC Article

    01/2/2021
    High ASPH expression is associated with pancreatic ductal adenocarcinoma metastasisthrough activation of SRC signaling pathway.

    Aspartate β-hydroxylase promotes pancreatic ductal adenocarcinoma metastasis through activation of SRC signaling pathway.
    Ogawa K, Lin Q, Li L, Bai X, Chen X, Chen H, Kong R, Wang Y, Zhu H, He F, Xu Q, Liu L, Li M, Zhang S, Nagaoka K, Carlson R, Safran H, Charpentier K, Sun B, Wands J, Dong X., Free PMC Article

    07/11/2020
    ASPH-Notch axis guides particularly selective exosomes to potentiate multifaceted metastasis. ASPH's pro-oncogenic/pro-metastatic properties are essential for breast cancer development/progression, revealing a potential target for therapy.

    ASPH-notch Axis guided Exosomal delivery of Prometastatic Secretome renders breast Cancer multi-organ metastasis.
    Lin Q, Chen X, Meng F, Ogawa K, Li M, Song R, Zhang S, Zhang Z, Kong X, Xu Q, He F, Bai X, Sun B, Hung MC, Liu L, Wands J, Dong X., Free PMC Article

    04/18/2020
    We report the 14th individual with Traboulsi syndrome and a novel homozygous deletion variant in exon 22 of ASPH gene associated with the phenotype.

    A novel 5 bp homozygous deletion mutation in ASPH gene associates with Traboulsi syndrome.
    Chandran P, Chermakani P, Venkataraman P, Thilagar SP, Raman GV, Sundaresan P.

    03/14/2020
    An unexpected Cys3-4 disulfide bonding pattern is observed in the epidermal growth factor-like domains of AspH.

    Aspartate/asparagine-β-hydroxylase crystal structures reveal an unexpected epidermal growth factor-like domain substrate disulfide pattern.
    Pfeffer I, Brewitz L, Krojer T, Jensen SA, Kochan GT, Kershaw NJ, Hewitson KS, McNeill LA, Kramer H, Münzel M, Hopkinson RJ, Oppermann U, Handford PA, McDonough MA, Schofield CJ., Free PMC Article

    02/29/2020
    Expression of aspartate beta-hydroxylase (ASPH) promoted direct protein interaction between RB1, cyclin-dependent kinases, and cyclins.

    Aspartate beta-hydroxylase promotes cholangiocarcinoma progression by modulating RB1 phosphorylation.
    Huang CK, Iwagami Y, Zou J, Casulli S, Lu S, Nagaoka K, Ji C, Ogawa K, Cao KY, Gao JS, Carlson RI, Wands JR., Free PMC Article

    08/10/2019
    The mRNA expression and promoter methylation rate of ASPH gene may play a role in the development and progression of breast cancer.

    [Expression of ASPH Gene in Invasive Breast Cancer and Its Clinical Significance in Promoter Methylation].
    Li C, Li HJ, Chen Q, Zhang XM, Li CL.

    01/12/2019
    the role of FTH1 in the FIH control of HIF-1 activity, is reported.

    Ferritin heavy chain controls the HIF-driven hypoxic response by activating the asparaginyl hydroxylase FIH.
    Jin P, Kang J, Lee MK, Park JW.

    10/13/2018
    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.

    Hydroxylase Activity of ASPH Promotes Hepatocellular Carcinoma Metastasis Through Epithelial-to-Mesenchymal Transition Pathway.
    Zou Q, Hou Y, Wang H, Wang K, Xing X, Xia Y, Wan X, Li J, Jiao B, Liu J, Huang A, Wu D, Xiang H, Pawlik TM, Wang H, Lau WY, Wang Y, Shen F., Free PMC Article

    09/29/2018
    Higher levels of HAAH/humbug mRNA were found in the hepatocellular carcinoma tissues relative to the adjacent cancerfree tissue.

    Evaluation of HAAH/humbug quantitative detection in the diagnosis of hepatocellular carcinoma.
    Xue T, Su J, Li H, Xue X.

    10/3/2015
    this study provides evidence that ASPH is mutated in a distinct form of syndromic ectopia lentis.

    Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
    Patel N, Khan AO, Mansour A, Mohamed JY, Al-Assiri A, Haddad R, Jia X, Xiong Y, Mégarbané A, Traboulsi EI, Alkuraya FS., Free PMC Article

    06/28/2014
    Data show that junctate (ASPH) is an interacting partner of Orai1-STIM1 complex.

    Junctate is a Ca2+-sensing structural component of Orai1 and stromal interaction molecule 1 (STIM1).
    Srikanth S, Jew M, Kim KD, Yee MK, Abramson J, Gwack Y., Free PMC Article

    08/25/2012
    Ca(2+) and JNT-dependent disassembly of the CSQ2 polymer

    Role of Junctin protein interactions in cellular dynamics of calsequestrin polymer upon calcium perturbation.
    Lee KW, Maeng JS, Choi JY, Lee YR, Hwang CY, Park SS, Park HK, Chung BH, Lee SG, Kim YS, Jeon H, Eom SH, Kang C, Kim DH, Kwon KS., Free PMC Article

    03/10/2012
    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.

    siRNA inhibition of aspartyl-asparaginyl β-hydroxylase expression impairs cell motility, Notch signaling, and fetal growth.
    Gundogan F, Bedoya A, Gilligan J, Lau E, Mark P, De Paepe ME, de la Monte SM., Free PMC Article

    02/11/2012
    firstprevious page of 2 nextlast