3q29 copy number variation syndrome (Homo sapiens)
From WikiPathways
Description
3q29 copy number variation (duplication or deletion) is a rare genetic condition that results in a variety of psychiatric problems.
Quality Tags
Ontology Terms
Bibliography
View all... |
- Kanie T, Abbott KL, Mooney NA, Plowey ED, Demeter J, Jackson PK; ''The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base.''; Dev Cell, 2017 PubMed Europe PMC Scholia
- Li X, Wen W, Liu K, Zhu F, Malakhova M, Peng C, Li T, Kim HG, Ma W, Cho YY, Bode AM, Dong Z; ''Phosphorylation of caspase-7 by p21-activated protein kinase (PAK) 2 inhibits chemotherapeutic drug-induced apoptosis of breast cancer cell lines.''; J Biol Chem, 2011 PubMed Europe PMC Scholia
- Berger A, Hoelbl-Kovacic A, Bourgeais J, Hoefling L, Warsch W, Grundschober E, Uras IZ, Menzl I, Putz EM, Hoermann G, Schuster C, Fajmann S, Leitner E, Kubicek S, Moriggl R, Gouilleux F, Sexl V; ''PAK-dependent STAT5 serine phosphorylation is required for BCR-ABL-induced leukemogenesis.''; Leukemia, 2014 PubMed Europe PMC Scholia
- Helmink BA, Braker JD, Kent C, Friesen JA; ''Identification of lysine 122 and arginine 196 as important functional residues of rat CTP:phosphocholine cytidylyltransferase alpha.''; Biochemistry, 2003 PubMed Europe PMC Scholia
- Qin Y, Garrison BS, Ma W, Wang R, Jiang A, Li J, Mistry M, Bronson RT, Santoro D, Franco C, Robinton DA, Stevens B, Rossi DJ, Lu C, Springer TA; ''A Milieu Molecule for TGF-β Required for Microglia Function in the Nervous System.''; Cell, 2018 PubMed Europe PMC Scholia
- Kato-Stankiewicz J, Ueda S, Kataoka T, Kaziro Y, Satoh T; ''Epidermal growth factor stimulation of the ACK1/Dbl pathway in a Cdc42 and Grb2-dependent manner.''; Biochem Biophys Res Commun, 2001 PubMed Europe PMC Scholia
- Seward DJ, Koh AS, Boyer JL, Ballatori N; ''Functional complementation between a novel mammalian polygenic transport complex and an evolutionarily ancient organic solute transporter, OSTalpha-OSTbeta.''; J Biol Chem, 2003 PubMed Europe PMC Scholia
- Coffer PJ, Woodgett JR; ''Molecular cloning and characterisation of a novel putative protein-serine kinase related to the cAMP-dependent and protein kinase C families.''; Eur J Biochem, 1991 PubMed Europe PMC Scholia
- Taron BW, Colussi PA, Wiedman JM, Orlean P, Taron CH; ''Human Smp3p adds a fourth mannose to yeast and human glycosylphosphatidylinositol precursors in vivo.''; J Biol Chem, 2004 PubMed Europe PMC Scholia
- Park JH, Lee SW, Yang SW, Yoo HM, Park JM, Seong MW, Ka SH, Oh KH, Jeon YJ, Chung CH; ''Modification of DBC1 by SUMO2/3 is crucial for p53-mediated apoptosis in response to DNA damage.''; Nat Commun, 2014 PubMed Europe PMC Scholia
- Leonard AS, Davare MA, Horne MC, Garner CC, Hell JW; ''SAP97 is associated with the alpha-amino-3-hydroxy-5-methylisoxazole-4-propionic acid receptor GluR1 subunit.''; J Biol Chem, 1998 PubMed Europe PMC Scholia
- Mahajan K, Coppola D, Challa S, Fang B, Chen YA, Zhu W, Lopez AS, Koomen J, Engelman RW, Rivera C, Muraoka-Cook RS, Cheng JQ, Schönbrunn E, Sebti SM, Earp HS, Mahajan NP; ''Ack1 mediated AKT/PKB tyrosine 176 phosphorylation regulates its activation.''; PLoS One, 2010 PubMed Europe PMC Scholia
- Christensen SM, Belew AT, El-Sayed NM, Tafuri WL, Silveira FT, Mosser DM; ''Host and parasite responses in human diffuse cutaneous leishmaniasis caused by L. amazonensis.''; PLoS Negl Trop Dis, 2019 PubMed Europe PMC Scholia
- Ashida H, Hong Y, Murakami Y, Shishioh N, Sugimoto N, Kim YU, Maeda Y, Kinoshita T; ''Mammalian PIG-X and yeast Pbn1p are the essential components of glycosylphosphatidylinositol-mannosyltransferase I.''; Mol Biol Cell, 2005 PubMed Europe PMC Scholia
- Alexandru G, Graumann J, Smith GT, Kolawa NJ, Fang R, Deshaies RJ; ''UBXD7 binds multiple ubiquitin ligases and implicates p97 in HIF1alpha turnover.''; Cell, 2008 PubMed Europe PMC Scholia
- Mahajan K, Coppola D, Rawal B, Chen YA, Lawrence HR, Engelman RW, Lawrence NJ, Mahajan NP; ''Ack1-mediated androgen receptor phosphorylation modulates radiation resistance in castration-resistant prostate cancer.''; J Biol Chem, 2012 PubMed Europe PMC Scholia
- Mahajan NP, Whang YE, Mohler JL, Earp HS; ''Activated tyrosine kinase Ack1 promotes prostate tumorigenesis: role of Ack1 in polyubiquitination of tumor suppressor Wwox.''; Cancer Res, 2005 PubMed Europe PMC Scholia
- Stracker TH, Roig I, Knobel PA, Marjanović M; ''The ATM signaling network in development and disease.''; Front Genet, 2013 PubMed Europe PMC Scholia
- West AP Jr, Bennett MJ, Sellers VM, Andrews NC, Enns CA, Bjorkman PJ; ''Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE.''; J Biol Chem, 2000 PubMed Europe PMC Scholia
- Ong CC, Gierke S, Pitt C, Sagolla M, Cheng CK, Zhou W, Jubb AM, Strickland L, Schmidt M, Duron SG, Campbell DA, Zheng W, Dehdashti S, Shen M, Yang N, Behnke ML, Huang W, McKew JC, Chernoff J, Forrest WF, Haverty PM, Chin SF, Rakha EA, Green AR, Ellis IO, Caldas C, O'Brien T, Friedman LS, Koeppen H, Rudolph J, Hoeflich KP; ''Small molecule inhibition of group I p21-activated kinases in breast cancer induces apoptosis and potentiates the activity of microtubule stabilizing agents.''; Breast Cancer Res, 2015 PubMed Europe PMC Scholia
- Nishijima Y, Hagiya Y, Kubo T, Takei R, Katoh Y, Nakayama K; ''RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly.''; Mol Biol Cell, 2017 PubMed Europe PMC Scholia
- Kennard ML, Richardson DR, Gabathuler R, Ponka P, Jefferies WA; ''A novel iron uptake mechanism mediated by GPI-anchored human p97.''; EMBO J, 1995 PubMed Europe PMC Scholia
- Mazza C, Ohno M, Segref A, Mattaj IW, Cusack S; ''Crystal structure of the human nuclear cap binding complex.''; Mol Cell, 2001 PubMed Europe PMC Scholia
- Satoh T, Kato J, Nishida K, Kaziro Y; ''Tyrosine phosphorylation of ACK in response to temperature shift-down, hyperosmotic shock, and epidermal growth factor stimulation.''; FEBS Lett, 1996 PubMed Europe PMC Scholia
- Mojarad BA, Gupta GD, Hasegan M, Goudiam O, Basto R, Gingras AC, Pelletier L; ''CEP19 cooperates with FOP and CEP350 to drive early steps in the ciliogenesis programme.''; Open Biol, 2017 PubMed Europe PMC Scholia
- Li T, Zhang J, Zhu F, Wen W, Zykova T, Li X, Liu K, Peng C, Ma W, Shi G, Dong Z, Bode AM; ''P21-activated protein kinase (PAK2)-mediated c-Jun phosphorylation at 5 threonine sites promotes cell transformation.''; Carcinogenesis, 2011 PubMed Europe PMC Scholia
- Jones PF, Jakubowicz T, Pitossi FJ, Maurer F, Hemmings BA; ''Molecular cloning and identification of a serine/threonine protein kinase of the second-messenger subfamily.''; Proc Natl Acad Sci U S A, 1991 PubMed Europe PMC Scholia
- Bandau S, Knebel A, Gage ZO, Wood NT, Alexandru G; ''UBXN7 docks on neddylated cullin complexes using its UIM motif and causes HIF1α accumulation.''; BMC Biol, 2012 PubMed Europe PMC Scholia
- Feder JN, Penny DM, Irrinki A, Lee VK, Lebrón JA, Watson N, Tsuchihashi Z, Sigal E, Bjorkman PJ, Schatzman RC; ''The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding.''; Proc Natl Acad Sci U S A, 1998 PubMed Europe PMC Scholia
- Stewart GS, Panier S, Townsend K, Al-Hakim AK, Kolas NK, Miller ES, Nakada S, Ylanko J, Olivarius S, Mendez M, Oldreive C, Wildenhain J, Tagliaferro A, Pelletier L, Taubenheim N, Durandy A, Byrd PJ, Stankovic T, Taylor AM, Durocher D; ''The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage.''; Cell, 2009 PubMed Europe PMC Scholia
- Rong R, Surace EI, Haipek CA, Gutmann DH, Ye K; ''Serine 518 phosphorylation modulates merlin intramolecular association and binding to critical effectors important for NF2 growth suppression.''; Oncogene, 2004 PubMed Europe PMC Scholia
- Zeng Y, Broxmeyer HE, Staser K, Chitteti BR, Park SJ, Hahn S, Cooper S, Sun Z, Jiang L, Yang X, Yuan J, Kosoff R, Sandusky G, Srour EF, Chernoff J, Clapp DW; ''Pak2 regulates hematopoietic progenitor cell proliferation, survival, and differentiation.''; Stem Cells, 2015 PubMed Europe PMC Scholia
- Licciulli S, Maksimoska J, Zhou C, Troutman S, Kota S, Liu Q, Duron S, Campbell D, Chernoff J, Field J, Marmorstein R, Kissil JL; ''FRAX597, a small molecule inhibitor of the p21-activated kinases, inhibits tumorigenesis of neurofibromatosis type 2 (NF2)-associated Schwannomas.''; J Biol Chem, 2013 PubMed Europe PMC Scholia
- Baumgart F, Corral-Escariz M, Pérez-Gil J, Rodríguez-Crespo I; ''Palmitoylation of R-Ras by human DHHC19, a palmitoyl transferase with a CaaX box.''; Biochim Biophys Acta, 2010 PubMed Europe PMC Scholia
- Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Coté AG, Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF, Kishore N, Knapp JJ, Kovács IA, Lemmens I, Mee MW, Mellor JC, Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM, Simonovsky E, Taşan M, Tejeda A, Tropepe V, Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP, Calderwood MA; ''A reference map of the human binary protein interactome.''; Nature, 2020 PubMed Europe PMC Scholia
- Veitch DP, Gilham D, Cornell RB; ''The role of histidine residues in the HXGH site of CTP:phosphocholine cytidylyltransferase in CTP binding and catalysis.''; Eur J Biochem, 1998 PubMed Europe PMC Scholia
- Zhao W, Kruse JP, Tang Y, Jung SY, Qin J, Gu W; ''Negative regulation of the deacetylase SIRT1 by DBC1.''; Nature, 2008 PubMed Europe PMC Scholia
- Mahajan NP, Liu Y, Majumder S, Warren MR, Parker CE, Mohler JL, Earp HS, Whang YE; ''Activated Cdc42-associated kinase Ack1 promotes prostate cancer progression via androgen receptor tyrosine phosphorylation.''; Proc Natl Acad Sci U S A, 2007 PubMed Europe PMC Scholia
- Dawson PA, Hubbert ML, Rao A; ''Getting the mOST from OST: Role of organic solute transporter, OSTalpha-OSTbeta, in bile acid and steroid metabolism.''; Biochim Biophys Acta, 2010 PubMed Europe PMC Scholia
- Kim JE, Chen J, Lou Z; ''DBC1 is a negative regulator of SIRT1.''; Nature, 2008 PubMed Europe PMC Scholia
- Huang Z, Traugh JA, Bishop JM; ''Negative control of the Myc protein by the stress-responsive kinase Pak2.''; Mol Cell Biol, 2004 PubMed Europe PMC Scholia
- Linseman DA, Heidenreich KA, Fisher SK; ''Stimulation of M3 muscarinic receptors induces phosphorylation of the Cdc42 effector activated Cdc42Hs-associated kinase-1 via a Fyn tyrosine kinase signaling pathway.''; J Biol Chem, 2001 PubMed Europe PMC Scholia
- Carraway KL, Perez A, Idris N, Jepson S, Arango M, Komatsu M, Haq B, Price-Schiavi SA, Zhang J, Carraway CA; ''Muc4/sialomucin complex, the intramembrane ErbB2 ligand, in cancer and epithelia: to protect and to survive.''; Prog Nucleic Acid Res Mol Biol, 2002 PubMed Europe PMC Scholia
- Dawson PA, Hubbert M, Haywood J, Craddock AL, Zerangue N, Christian WV, Ballatori N; ''The heteromeric organic solute transporter alpha-beta, Ostalpha-Ostbeta, is an ileal basolateral bile acid transporter.''; J Biol Chem, 2005 PubMed Europe PMC Scholia
- Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB; ''TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.''; Nat Commun, 2015 PubMed Europe PMC Scholia
- Lee JH, Wittki S, Bräu T, Dreyer FS, Krätzel K, Dindorf J, Johnston IC, Gross S, Kremmer E, Zeidler R, Schlötzer-Schrehardt U, Lichtenheld M, Saksela K, Harrer T, Schuler G, Federico M, Baur AS; ''HIV Nef, paxillin, and Pak1/2 regulate activation and secretion of TACE/ADAM10 proteases.''; Mol Cell, 2013 PubMed Europe PMC Scholia
- Nemeth E, Ganz T; ''Regulation of iron metabolism by hepcidin.''; Annu Rev Nutr, 2006 PubMed Europe PMC Scholia
- Richter KT, Kschonsak YT, Vodicska B, Hoffmann I; ''FBXO45-MYCBP2 regulates mitotic cell fate by targeting FBXW7 for degradation.''; Cell Death Differ, 2020 PubMed Europe PMC Scholia
History
View all... |
External references
DataNodes
View all... |
Annotated Interactions
No annotated interactions