Property Summary

NCBI Gene PubMed Count 46
Grant Count 185
R01 Count 81
Funding $54,027,368.21
PubMed Score 471.03
PubTator Score 176.71

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q12797 A6NDF4 A6NHI2 B4DIC9 B4E2K4 B7ZM95 E5RGP5 F5H667 Q6NXR7 Q8TB28 Q9H291 Q9H2C4 Q9NRI0 Q9NRI1 Q9Y4J0
Symbols AAH
BAH
HAAH
JCTN
FDLAB
junctin
CASQ2BP1

Gene

PANTHER Protein Class (2)

PDB

5APA  

Gene RIF (20)

PMID Text
25394783 Higher levels of HAAH/humbug mRNA were found in the hepatocellular carcinoma tissues relative to the adjacent cancerfree tissue.
24768550 this study provides evidence that ASPH is mutated in a distinct form of syndromic ectopia lentis.
22586105 Data show that junctate (ASPH) is an interacting partner of Orai1-STIM1 complex.
22123818 Ca(2+) and JNT-dependent disassembly of the CSQ2 polymer
21862239 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.
19663697 analysis of aspartyl (asparaginyl) beta-hydroxylase monoclonal antibodies
19200576 High levels of aspartyl (asparaginyl)-beta-hydroxylase/humbug correlate with poor prognosis in non-small cell lung cancer, particularly squamous cell carcinoma subtype.
19197126 Low expression of AAH in the endochylema and nucleus of trephocyte may play a role in patients with missed abortion.
19087304 USF1 and USF2 positively regulate the core of P1 promoter od AAH.
18288418 Expression analysis showed that the mRNA expression level of humbug was correlated with invasive potential in various human gastric cancer cell lines.
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AA Sequence

MAQRKNAKSSGNSSSSGSGSGSTSAGSSSPGARRETKHGGHKNGRKGGLSGTSFFTWFMVIALLGVWTSV      1 - 70
AVVWFDLVDYEEVLGKLGIYDADGDGDFDVDDAKVLLGLKERSTSEPAVPPEEAEPHTEPEEQVPVEAEP     71 - 140
QNIEDEAKEQIQSLLHEMVHAEHVEGEDLQQEDGPTGEPQQEDDEFLMATDVDDRFETLEPEVSHEETEH    141 - 210
SYHVEETVSQDCNQDMEEMMSEQENPDSSEPVVEDERLHHDTDDVTYQVYEEQAVYEPLENEGIEITEVT    211 - 280
APPEDNPVEDSQVIVEEVSIFPVEEQQEVPPETNRKTDDPEQKAKVKKKKPKLLNKFDKTIKAELDAAEK    281 - 350
LRKRGKIEEAVNAFKELVRKYPQSPRARYGKAQCEDDLAEKRRSNEVLRGAIETYQEVASLPDVPADLLK    351 - 420
LSLKRRSDRQQFLGHMRGSLLTLQRLVQLFPNDTSLKNDLGVGYLLIGDNDNAKKVYEEVLSVTPNDGFA    421 - 490
KVHYGFILKAQNKIAESIPYLKEGIESGDPGTDDGRFYFHLGDAMQRVGNKEAYKWYELGHKRGHFASVW    491 - 560
QRSLYNVNGLKAQPWWTPKETGYTELVKSLERNWKLIRDEGLAVMDKAKGLFLPEDENLREKGDWSQFTL    561 - 630
WQQGRRNENACKGAPKTCTLLEKFPETTGCRRGQIKYSIMHPGTHVWPHTGPTNCRLRMHLGLVIPKEGC    631 - 700
KIRCANETKTWEEGKVLIFDDSFEHEVWQDASSFRLIFIVDVWHPELTPQQRRSLPAI                701 - 758
//

Text Mined References (54)

PMID Year Title
27365365 2016 Diverse alternative back-splicing and alternative splicing landscape of circular RNAs.
25416956 2014 A proteome-scale map of the human interactome network.
25394783 2015 Evaluation of HAAH/humbug quantitative detection in the diagnosis of hepatocellular carcinoma.
24768550 2014 Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
22586105 2012 Junctate is a Ca2+-sensing structural component of Orai1 and stromal interaction molecule 1 (STIM1).
22123818 2012 Role of Junctin protein interactions in cellular dynamics of calsequestrin polymer upon calcium perturbation.
21862239 2011 siRNA inhibition of aspartyl-asparaginyl ?-hydroxylase expression impairs cell motility, Notch signaling, and fetal growth.
21269460 2011 Initial characterization of the human central proteome.
21062895 2010 Agonist-activated Ca2+ influx occurs at stable plasma membrane and endoplasmic reticulum junctions.
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