1p36 copy number variation syndrome (Homo sapiens)

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372140384814384421161434423738424064521Increased energymetabolismunknown functionInteraction betweenactivated T-lymphocytes& endothelial cells & T-cell receptor mediated apoptosisunknown functionLong-term T-cellimunitryDNA-templated transcriptionTranscription by RNA polymerase IITonic inhibitionRegulates calcium-dependant activities in the ER lumen or post-ER compartmentDecrease stabilityof the leptin mRNATranscriptional repressorUnknown functionencodes a component of the extracellular matrix Retention of ER proteinsFormation NMJActivation ofinnate immunityPRC1 component together with SAMD7IFIH1ELAVL1Regulation of IGF transport and uptake by IGF binding proteinsLRP4TNFSF18Mitochondrial Biogenesis miR-targeted genes TNFSF4NFkB activationvia TRAF2/NIKMUSKIL-1 induced activation of NF-kBIFIT1MIR6726AGRNPEX5MIR429C1orf159NOC2L33PERM1TNFRSF430HES4MIR200APLEKHN1TNFRSF1819KLHL17AGRN50MIR200BSDF4ISG15RNF22344Chromosome 1:12,010 - 1,335,314MIR6859-1MIR6859-2OR4F29MIR1302-2ORF4F54Olfactory receptor activity OR4F16SAMD11Chromosome 1: 1,335,276 - 2,505,532 524584620, 35472293452Unknown function3Th2 differentiationGamma-secretase complex assemblyAnexome assemblyMembrane componentEnables calcium ion binding activity, Enzyme regulator activity.Regulation of catalytic activitySMAD2ApoptosisNADP+PIP2IP3Canonical NF-kB pathwaySMAD3IL-4 signaling pathwayTGF-B signaling pathwayPEX12DiacylglycerolSMAD4PI3K-Akt signaling pathwayNAD+DNA repair pathwaysCDK11ANADKGNB1CALML6CFAP74TMEM52GABRDPLCH2PEX10MORN1RER1PRKCZFAAP20SKIPEX2PEX10Retrotranslocation channelCell cycleCytokinesis55p53/TP53 apoptosisHDAC p53/TP531E3 ubiquitin-protein ligase complexCUL3BTBRBX1GRIK2/GLUR6Unknown functionUnknown function2427, 49265917, 2215ribosomal large subunit assembly zinc ion bindingmitochondrial organizationnucleotide/ATP bindingATP hydrolysis activity actin bindingzinc and metal ion bindingtransferase activityECM organizationcollagen catabolic processpepitdase/hydrolase activtiyzinc and metal ion bindingDLSTCOMMD1MMP23BCDK11BMCM2ANKRD65ATAD3CPARD6BMitochondrial translation ESR1KRT17PHKG2DKK3Chronic hyperglycemia impairment of neuron function SSU72TGFB118RNA polymerase II transcribes snRNA genes ATAD3B39S TRIM25ATAD3AMEPCEMitotic G2-G2/M phasesPost-translational protein phosphorylation FNDC10SLC35E2BMatrix metalloproteinasesTMEM88BHSPA8MRPL20METTL14 MIB2GDE128SVWA1TMEM240cytokinesisapoptosisNOTCH1/2/3 signaling Class I MHC mediated antigen processing and presentation36102511125697, 54, 5857563654, 58455During DevelopmentUnknownWNT-SignallingGlucose ImportINTS11TAS1R3IL-1B SynthesisPI3K-Akt-mTOR-signalingGlucogenesismRNA 3'-ProcessingtRNA pseudouridine synthesisPUSL1SCNN1DVEGFPI3K-AktArf6 GTP-aseINTS1131INTS9Insulin Receptor Signalling PathwayVTN Beta 1-3-linked galactoseUmami Taste PerceptionINTS13Proinflammatory Gene ExpressionCCNL2DVL1INTS4ACAP3Neuron MorphogenesisENaC Subunit of Epithelial Sodium ChannelINTS1039CPTPUbiquitination23UBE2J2INTS14AURKAIP1NLRP3 Inflammasomepre-RNA splicingC1QTNF12MXRA8UDP-galactoseB3GALT6C1PC1PMIR6727MIR6808Unknown functionUnknown functionUnknown functionUnknown functionUnknown functionUnknown function


Description

1p36 deletion syndrome is a rare genetic disorder caused by the deletion of the most distal light band of the short arm of chromosome 1.

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Bibliography

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  1. Chen S, Yin X, Zhu X, Yan J, Ji S, Chen C, Cai M, Zhang S, Zong H, Hu Y, Yuan Z, Shen Z, Gu J; ''The C-terminal kinase domain of the p34cdc2-related PITSLRE protein kinase (p110C) associates with p21-activated kinase 1 and inhibits its activity during anoikis.''; J Biol Chem, 2003 PubMed Europe PMC Scholia
  2. Liu S, Wei W, Wang P, Liu C, Jiang X, Li T, Li F, Wu Y, Chen S, Sun K, Xu R; ''LOF variants identifying candidate genes of laterality defects patients with congenital heart disease.''; PLoS Genet, 2022 PubMed Europe PMC Scholia
  3. Ma H, Feng PH, Yu SN, Lu ZH, Yu Q, Chen J; ''Identification and validation of TNFRSF4 as a high-profile biomarker for prognosis and immunomodulation in endometrial carcinoma.''; BMC Cancer, 2022 PubMed Europe PMC Scholia
  4. Lam SY, Murphy C, Foley LA, Ross SA, Wang TC, Fleming JV; ''The human ubiquitin conjugating enzyme UBE2J2 (Ubc6) is a substrate for proteasomal degradation.''; Biochem Biophys Res Commun, 2014 PubMed Europe PMC Scholia
  5. Gao Y, Zhang X, Wang T, Zhang Y, Wang Q, Hu Y; ''HNRNPCL1, PRAMEF1, CFAP74, and DFFB: Common Potential Biomarkers for Sporadic and Suspected Lynch Syndrome Endometrial Cancer.''; Cancer Manag Res, 2020 PubMed Europe PMC Scholia
  6. Lo Vasco VR; ''Role of phosphoinositide-specific phospholipase C eta·2 in isolated and syndromic mental retardation.''; Eur Neurol, 2011 PubMed Europe PMC Scholia
  7. Beckedorff F, Blumenthal E, daSilva LF, Aoi Y, Cingaram PR, Yue J, Zhang A, Dokaneheifard S, Valencia MG, Gaidosh G, Shilatifard A, Shiekhattar R; ''The Human Integrator Complex Facilitates Transcriptional Elongation by Endonucleolytic Cleavage of Nascent Transcripts.''; Cell Rep, 2020 PubMed Europe PMC Scholia
  8. Guo JC, Yang YJ, Guo M, Zhang JQ, Zheng JF, Liu Z; ''Involvement of CDK11B-mediated SPDEF ubiquitination and SPDEF-mediated microRNA-448 activation in the oncogenicity and self-renewal of hepatocellular carcinoma stem cells.''; Cancer Gene Ther, 2021 PubMed Europe PMC Scholia
  9. Hoxhaj G, Ben-Sahra I, Lockwood SE, Timson RC, Byles V, Henning GT, Gao P, Selfors LM, Asara JM, Manning BD; ''Direct stimulation of NADP(+) synthesis through Akt-mediated phosphorylation of NAD kinase.''; Science, 2019 PubMed Europe PMC Scholia
  10. ''Alliance of Genome Resources. (2023). Alliancegenome.org. https://www.alliancegenome.org/gene/HGNC:32151#summary''; , PubMed Europe PMC Scholia
  11. Hu D, Mayeda A, Trembley JH, Lahti JM, Kidd VJ; ''CDK11 complexes promote pre-mRNA splicing.''; J Biol Chem, 2003 PubMed Europe PMC Scholia
  12. Khakurel A, Kudlyk T, Pokrovskaya I, D'Souza Z, Lupashin VV; ''GARP dysfunction results in COPI displacement, depletion of Golgi v-SNAREs and calcium homeostasis proteins.''; Front Cell Dev Biol, 2022 PubMed Europe PMC Scholia
  13. Bai B, Ban B, Liu Z, Zhang MM, Tan BK, Chen J; ''Circulating C1q complement/TNF-related protein (CTRP) 1, CTRP9, CTRP12 and CTRP13 concentrations in Type 2 diabetes mellitus: In vivo regulation by glucose.''; PLoS One, 2017 PubMed Europe PMC Scholia
  14. Patel RY, Balaji PV; ''Fold-recognition and comparative modeling of human beta3GalT I, II, IV, V and VI and beta3GalNAcT I: prediction of residues conferring acceptor substrate specificity.''; J Mol Graph Model, 2007 PubMed Europe PMC Scholia
  15. Ji HL, Zhao RZ, Chen ZX, Shetty S, Idell S, Matalon S; ''Delta-ENaC: a novel divergent amiloride-inhibitable sodium channel.''; Am J Physiol Lung Cell Mol Physiol, 2012 PubMed Europe PMC Scholia
  16. Sargolzaei J, Chamani E, Kazemi T, Fallah S, Soori H; ''The role of adiponectin and adipolin as anti-inflammatory adipokines in the formation of macrophage foam cells and their association with cardiovascular diseases.''; Clin Biochem, 2018 PubMed Europe PMC Scholia
  17. Bai B, Ban B, Liu Z, Zhang MM, Tan BK, Chen J; ''Circulating C1q complement/TNF-related protein (CTRP) 1, CTRP9, CTRP12 and CTRP13 concentrations in Type 2 diabetes mellitus: In vivo regulation by glucose.''; PLoS One, 2017 PubMed Europe PMC Scholia
  18. Ji HL, Zhao RZ, Chen ZX, Shetty S, Idell S, Matalon S; ''ENaC: a novel divergent amiloride-inhibitable sodium channel.''; Am J Physiol Lung Cell Mol Physiol, 2012 PubMed Europe PMC Scholia
  19. Williams C, van den Berg M, Geers E, Distel B; ''Pex10p functions as an E3 ligase for the Ubc4p-dependent ubiquitination of Pex5p.''; Biochem Biophys Res Commun, 2008 PubMed Europe PMC Scholia
  20. Wikipedia Contributors.; ''Mitochondrial ribosome. Wikipedia; Wikimedia Foundation.''; https://en.wikipedia.org/wiki/Mitochondrial_ribosome, (2023, February 19) PubMed Europe PMC Scholia
  21. Hsu H, Solovyev I, Colombero A, Elliott R, Kelley M, Boyle WJ; ''ATAR, a novel tumor necrosis factor receptor family member, signals through TRAF2 and TRAF5.''; J Biol Chem, 1997 PubMed Europe PMC Scholia
  22. Esparza EM, Arch RH; ''Glucocorticoid-induced TNF receptor, a costimulatory receptor on naive and activated T cells, uses TNF receptor-associated factor 2 in a novel fashion as an inhibitor of NF-kappa B activation.''; J Immunol, 2005 PubMed Europe PMC Scholia
  23. Zimmermannova O, Doktorova E, Stuchly J, Kanderova V, Kuzilkova D, Strnad H, Starkova J, Alberich-Jorda M, Falkenburg JHF, Trka J, Petrak J, Zuna J, Zaliova M; ''An activating mutation of GNB1 is associated with resistance to tyrosine kinase inhibitors in ETV6-ABL1-positive leukemia.''; Oncogene, 2017 PubMed Europe PMC Scholia
  24. Cai G, Anumanthan A, Brown JA, Greenfield EA, Zhu B, Freeman GJ; ''CD160 inhibits activation of human CD4+ T cells through interaction with herpesvirus entry mediator.''; Nat Immunol, 2008 PubMed Europe PMC Scholia
  25. Chen QY, Alarcon S, Tharp A, Ahmed OM, Estrella NL, Greene TA, Rucker J, Breslin PA; ''Perceptual variation in umami taste and polymorphisms in TAS1R taste receptor genes.''; Am J Clin Nutr, 2009 PubMed Europe PMC Scholia
  26. Maeda A, Uchida M, Nishikawa S, Nishino T, Konishi H; ''Role of N-myristoylation in stability and subcellular localization of the CLPABP protein.''; Biochem Biophys Res Commun, 2018 PubMed Europe PMC Scholia
  27. Mishra SK, Gao YG, Deng Y, Chalfant CE, Hinchcliffe EH, Brown RE; ''CPTP: A sphingolipid transfer protein that regulates autophagy and inflammasome activation.''; Autophagy, 2018 PubMed Europe PMC Scholia
  28. ''Pathway Commons. (2023). Pathwaycommons.org. https://apps.pathwaycommons.org/interactions/?source=ATAD3C''; , PubMed Europe PMC Scholia
  29. Yamamura H, Ugawa S, Ueda T, Nagao M, Shimada S; ''Protons activate the delta-subunit of the epithelial Na+ channel in humans.''; J Biol Chem, 2004 PubMed Europe PMC Scholia
  30. Miura Y, Kanaho Y; ''ACAP3, the GTPase-activating protein specific to the small GTPase Arf6, regulates neuronal migration in the developing cerebral cortex.''; Biochem Biophys Res Commun, 2017 PubMed Europe PMC Scholia
  31. Zaganelli S, Rebelo-Guiomar P, Maundrell K, Rozanska A, Pierredon S, Powell CA, Jourdain AA, Hulo N, Lightowlers RN, Chrzanowska-Lightowlers ZM, Minczuk M, Martinou JC; ''The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules.''; J Biol Chem, 2017 PubMed Europe PMC Scholia
  32. Yamamura H, Ugawa S, Ueda T, Nagao M, Shimada S; ''Protons activate the delta-subunit of the epithelial Na+ channel in humans.''; J Biol Chem, 2004 PubMed Europe PMC Scholia
  33. Huang L, Khusnutdinova A, Nocek B, Brown G, Xu X, Cui H, Petit P, Flick R, Zallot R, Balmant K, Ziemak MJ, Shanklin J, de Crécy-Lagard V, Fiehn O, Gregory JF 3rd, Joachimiak A, Savchenko A, Yakunin AF, Hanson AD; ''A family of metal-dependent phosphatases implicated in metabolite damage-control.''; Nat Chem Biol, 2016 PubMed Europe PMC Scholia
  34. Patel RY, Balaji PV; ''Fold-recognition and comparative modeling of human beta3GalT I, II, IV, V and VI and beta3GalNAcT I: prediction of residues conferring acceptor substrate specificity.''; J Mol Graph Model, 2007 PubMed Europe PMC Scholia
  35. Zhang W, St-Gelais F, Grabner CP, Trinidad JC, Sumioka A, Morimoto-Tomita M, Kim KS, Straub C, Burlingame AL, Howe JR, Tomita S; ''A transmembrane accessory subunit that modulates kainate-type glutamate receptors.''; Neuron, 2009 PubMed Europe PMC Scholia
  36. Piccolo P, Attanasio S, Secco I, Sangermano R, Strisciuglio C, Limongelli G, Miele E, Mutarelli M, Banfi S, Nigro V, Pons T, Valencia A, Zentilin L, Campione S, Nardone G, Lynnes TC, Celestino-Soper PB, Spoonamore KG, D'Armiento FP, Giacca M, Staiano A, Vatta M, Collesi C, Brunetti-Pierri N; ''MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Menetrier-like gastropathy.''; Hum Mol Genet, 2017 PubMed Europe PMC Scholia
  37. Pagnamenta AT, Kaiyrzhanov R, Zou Y, Da'as SI, Maroofian R, Donkervoort S, Dominik N, Lauffer M, Ferla MP, Orioli A, Giess A, Tucci A, Beetz C, Sedghi M, Ansari B, Barresi R, Basiri K, Cortese A, Elgar G, Fernandez-Garcia MA, Yip J, Foley AR, Gutowski N, Jungbluth H, Lassche S, Lavin T, Marcelis C, Marks P, Marini-Bettolo C, Medne L, Moslemi AR, Sarkozy A, Reilly MM, Muntoni F, Millan F, Muraresku CC, Need AC, Nemeth AH, Neuhaus SB, Norwood F, O'Donnell M, O'Driscoll M, Rankin J, Yum SW, Zolkipli-Cunningham Z, Brusius I, Wunderlich G, Karakaya M, Wirth B, Fakhro KA, Tajsharghi H, Bonnemann CG, Taylor JC, Houlden H; ''An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.''; Brain, 2021 PubMed Europe PMC Scholia
  38. Chang Y, Huang Z, Quan H, Li H, Yang S, Song Y, Wang J, Yuan J, Wu C; ''Construction of a DNA damage repair gene signature for predicting prognosis and immune response in breast cancer.''; Front Oncol, 2022 PubMed Europe PMC Scholia
  39. Zhai X, Gao YG, Mishra SK, Simanshu DK, Boldyrev IA, Benson LM, Bergen HR 3rd, Malinina L, Mundy J, Molotkovsky JG, Patel DJ, Brown RE; ''Phosphatidylserine Stimulates Ceramide 1-Phosphate (C1P) Intermembrane Transfer by C1P Transfer Proteins.''; J Biol Chem, 2017 PubMed Europe PMC Scholia
  40. Jordan VK, Zaveri HP, Scott DA; ''1p36 deletion syndrome: an update.''; Appl Clin Genet, 2015 PubMed Europe PMC Scholia
  41. Hublitz P, Kunowska N, Mayer UP, Muller JM, Heyne K, Yin N, Fritzsche C, Poli C, Miguet L, Schupp IW, van Grunsven LA, Potiers N, van Dorsselaer A, Metzger E, Roemer K, Schule R; ''NIR is a novel INHAT repressor that modulates the transcriptional activity of p53.''; Genes Dev, 2005 PubMed Europe PMC Scholia
  42. Sharma M, Castro-Piedras I, Simmons GE Jr, Pruitt K; ''Dishevelled: A masterful conductor of complex Wnt signals.''; Cell Signal, 2018 PubMed Europe PMC Scholia
  43. Ohtsuka T, Sakamoto M, Guillemot F, Kageyama R; ''Roles of the basic helix-loop-helix genes Hes1 and Hes5 in expansion of neural stem cells of the developing brain.''; J Biol Chem, 2001 PubMed Europe PMC Scholia
  44. ''Gene group | HUGO Gene Nomenclature Committee. (2023). Genenames.org. https://www.genenames.org/data/genegroup/#!/group/413''; , PubMed Europe PMC Scholia
  45. Loyer P, Trembley JH, Grenet JA, Busson A, Corlu A, Zhao W, Kocak M, Kidd VJ, Lahti JM; ''Characterization of cyclin L1 and L2 interactions with CDK11 and splicing factors: influence of cyclin L isoforms on splice site selection.''; J Biol Chem, 2008 PubMed Europe PMC Scholia
  46. Liu G, Lee JH, Parker ZM, Acharya D, Chiang JJ, van Gent M, Riedl W, Davis-Gardner ME, Wies E, Chiang C, Gack MU; ''ISG15-dependent activation of the sensor MDA5 is antagonized by the SARS-CoV-2 papain-like protease to evade host innate immunity.''; Nat Microbiol, 2021 PubMed Europe PMC Scholia
  47. Oka SI, Sreedevi K, Shankar TS, Yedla S, Arowa S, James A, Stone KG, Olmos K, Sabry AD, Horiuchi A, Cawley KM, O'very SA, Tong M, Byun J, Xu X, Kashyap S, Mourad Y, Vehra O, Calder D, Lunde T, Liu T, Li H, Mashchek JA, Cox J, Saijoh Y, Drakos SG, Warren JS; ''PERM1 regulates energy metabolism in the heart via ERRalphaPGC-1alpha axis.''; Front Cardiovasc Med, 2022 PubMed Europe PMC Scholia
  48. Kubo S, Yamamoto H, Kajimura N, Omori Y, Maeda Y, Chaya T, Furukawa T; ''Functional analysis of Samd11, a retinal photoreceptor PRC1 component, in establishing rod photoreceptor identity.''; Sci Rep, 2021 PubMed Europe PMC Scholia
  49. Sargolzaei J, Chamani E, Kazemi T, Fallah S, Soori H; ''The role of adiponectin and adipolin as anti-inflammatory adipokines in the formation of macrophage foam cells and their association with cardiovascular diseases.''; Clin Biochem, 2018 PubMed Europe PMC Scholia
  50. ''''; , PubMed Europe PMC Scholia
  51. Enomoto T, Ohashi K, Shibata R, Higuchi A, Maruyama S, Izumiya Y, Walsh K, Murohara T, Ouchi N; ''Adipolin/C1qdc2/CTRP12 protein functions as an adipokine that improves glucose metabolism.''; J Biol Chem, 2011 PubMed Europe PMC Scholia
  52. Miura Y, Kanaho Y; ''ACAP3, the GTPase-activating protein specific to the small GTPase Arf6, regulates neuronal migration in the developing cerebral cortex.''; Biochem Biophys Res Commun, 2017 PubMed Europe PMC Scholia
  53. Malnic B, Godfrey PA, Buck LB; ''The human olfactory receptor gene family.''; Proc Natl Acad Sci U S A, 2004 PubMed Europe PMC Scholia
  54. Lu S, Chen Z, Liu Z; ''Unmasking the biological function and regulatory mechanism of NOC2L: a novel inhibitor of histone acetyltransferase.''; J Transl Med, 2023 PubMed Europe PMC Scholia
  55. Tecalco-Cruz AC, Rios-Lopez DG, Vazquez-Victorio G, Rosales-Alvarez RE, Macias-Silva M; ''Transcriptional cofactors Ski and SnoN are major regulators of the TGF-beta/Smad signaling pathway in health and disease.''; Signal Transduct Target Ther, 2018 PubMed Europe PMC Scholia
  56. Liu Z, Zhao M, Jiang X, Zhang Y, Zhang S, Xu Y, Ren H, Su H, Wang H, Qiu X; ''Upregulation of KLHL17 promotes the proliferation and migration of non-small cell lung cancer by activating the Ras/MAPK signaling pathway.''; Lab Invest, 2022 PubMed Europe PMC Scholia
  57. Hong Q, Xu W, Lin Z, Liu J, Chen W, Zhu H, Lai M, Zhuang D, Xu Z, Fu D, Zhou W, Liu H; ''Role of GABRD Gene Methylation in the Nucleus Accumbens in Heroin-Seeking Behavior in Rats.''; Front Pharmacol, 2020 PubMed Europe PMC Scholia
  58. Šedý JR, Bjordahl RL, Bekiaris V, Macauley MG, Ware BC, Norris PS, Lurain NS, Benedict CA, Ware CF; ''CD160 activation by herpesvirus entry mediator augments inflammatory cytokine production and cytolytic function by NKcells.''; J Immunol, 2013 PubMed Europe PMC Scholia
  59. Cheong A, Lingutla R, Mager J; ''Expression analysis of mammalian mitochondrial ribosomal protein genes.''; Gene Expr Patterns, 2020 PubMed Europe PMC Scholia
  60. Chishti YZ, Feswick A, Munkittrick KR, Martyniuk CJ; ''Transcriptomic profiling of progesterone in the male fathead minnow (Pimephales promelas) testis.''; Gen Comp Endocrinol, 2013 PubMed Europe PMC Scholia
  61. Han SW, Jung YK, Lee EJ, Park HR, Kim GW, Jeong JH, Han MS, Choi JY; ''DICAM inhibits angiogenesis via suppression of AKT and p38 MAP kinase signalling.''; Cardiovasc Res, 2013 PubMed Europe PMC Scholia
  62. Marsters SA, Ayres TM, Skubatch M, Gray CL, Rothe M, Ashkenazi A; ''Herpesvirus entry mediator, a member of the tumor necrosis factor receptor (TNFR) family, interacts with members of the TNFR-associated factor family and activates the transcription factors NF-kappaB and AP-1.''; J Biol Chem, 1997 PubMed Europe PMC Scholia
  63. So T, Ishii N; ''The TNF-TNFR Family of Co-signal Molecules.''; Adv Exp Med Biol, 2019 PubMed Europe PMC Scholia
  64. El Yakoubi W, Borday C, Hamdache J, Parain K, Tran HT, Vleminckx K, Perron M, Locker M; ''Hes4 controls proliferative properties of neural stem cells during retinal ontogenesis.''; Stem Cells, 2012 PubMed Europe PMC Scholia
  65. Enomoto T, Ohashi K, Shibata R, Higuchi A, Maruyama S, Izumiya Y, Walsh K, Murohara T, Ouchi N; ''Adipolin/C1qdc2/CTRP12 protein functions as an adipokine that improves glucose metabolism.''; J Biol Chem, 2011 PubMed Europe PMC Scholia
  66. Lam SY, Murphy C, Foley LA, Ross SA, Wang TC, Fleming JV; ''The human ubiquitin conjugating enzyme UBE2J2 (Ubc6) is a substrate for proteasomal degradation.''; Biochem Biophys Res Commun, 2014 PubMed Europe PMC Scholia
  67. Lin YL, Nhieu J, Liu PY, Le G, Lee DJ, Wei CW, Lin YW, Oh SH, Lowe D, Wei LN; ''CRABP1-CaMKII-Agrn regulates the maintenance of neuromuscular junction in spinal motor neuron.''; Cell Death Differ, 2022 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
134459view00:16, 22 July 2024EweitzOntology Term : 'chromosomal duplication syndrome' added !
134458view00:16, 22 July 2024EweitzOntology Term : 'chromosomal deletion syndrome' added !
134399view19:50, 21 July 2024EweitzRemove template comments
127117view22:40, 3 August 2023AlexanderPicofixed characters in bibliography
127026view10:08, 24 July 2023FehrhartModified description
127025view10:06, 24 July 2023Fehrhartupdate and corrections
127005view14:27, 17 July 2023Ash iyerupdated literature
126967view07:35, 9 July 2023EgonwLooked up the ChEBI identifier in Uniprot for the C1P with full stereochem defined
126542view09:04, 30 May 2023FehrhartConverted interaction to graphical line
126541view08:59, 30 May 2023Fehrhartgraphical update
126462view19:10, 1 May 2023AlexanderPicofixed citations
126451view19:51, 30 April 2023AlexanderPicoModified description
126450view19:48, 30 April 2023AlexanderPicoModified description
126161view17:07, 11 April 2023Ash iyerUpdated missing annotations
126111view15:21, 6 April 2023FehrhartModified title
126097view09:15, 5 April 2023KieranReidyChanged the interactions going from VEGF to PI3K-Akt and VTN to PI3K-Akt-mTor signaling from stimulatory to inhibitory
126082view16:37, 2 April 2023KieranReidyAdded 3 missing miRNA's. Changed 3 miRNA's to the correct color and changed their biological type to RNA. Fixed unconnected interactions. Fixed the annotation for the chromosomal location
126044view13:23, 29 March 2023Clarissafalempinthe node names were changes (punctuation issues) and the 4 unlinked interactions should have been fixed.
126043view12:49, 29 March 2023FehrhartOntology Term : 'disease pathway' added !
126021view12:27, 28 March 2023Kay.VeurinkChanged chromosome line from black to red
126020view12:25, 28 March 2023JHekmaWierdaChanged unkown Data nodes into labels
126004view10:37, 25 March 2023EgonwOne more clickable pathway
126001view21:12, 24 March 2023EgonwMade two pathways clickable
125999view21:09, 24 March 2023EgonwUse Uniprot-TrEMBL to make the linkout works
125950view10:32, 23 March 2023ElenaDR1Ontology Term : 'chromosome 1p36 deletion syndrome' added !
125934view22:28, 21 March 2023KieranReidyModified title
125933view22:26, 21 March 2023KieranReidyRemoved unnecessary information and changed certain "unknown function" data nodes to lables
125932view22:20, 21 March 2023KieranReidyNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
28SGeneProductENSG00000242485 (Ensembl) small ribosomal subunit
39S ProteinENSG00000242485 (Ensembl)
  • add the complex of the ribosome
  • good for yeast, add in the genes
ACAP3GeneProductENSG00000131584 (Ensembl)
AGRNGeneProductENSG00000188157 (Ensembl)
ANKRD65GeneProductENSG00000235098 (Ensembl) ankyrin repeat domain 65, 5 transcripts, Protein Coding gene. Diseases associated with ANKRD65 include Large Intestine Adenocarcinoma and Brachial Plexus Neuritis. An important paralog of this gene is CTTNBP2. protein binding
ATAD3AGeneProductENSG00000197785 (Ensembl) ATPase family AAA domain containing 3A, This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast cancer patients. regulation of cell growth, mitochondrial organization, negative regulation of apoptosis, antivial innate immune response, nucleotide/protein/ATP and identical protein binding, ATP hydrolysis activity
ATAD3BGeneProductENSG00000160072 (Ensembl) ATPase family AAA domain containing 3B mitochondrial organization, nucleotide/ATP binding, ATP hydrolysis activity. pathways: immune system, neutrophil degranulation, innnate immune system
ATAD3CGeneProductENSG00000215915 (Ensembl) "ATPase family AAA domain containing 3C, Predicted to enable zinc ion binding activity. Diseases associated with ATAD3C include Pontocerebellar Hypoplasia, Type 4 and Pontocerebellar Hypoplasia, Type 3. Gene Ontology (GO) annotations related to this gene include four-way junction helicase activity. An important paralog of this gene is ATAD3A. organization. Located in mitochondrion. lung carcinoma mitochondrial organization, nucleotide/ATP binding, ATP hydrolysis activity
AURKAIP1 GeneProductENSG00000175756 (Ensembl)
ApoptosisPathwayWP254 (WikiPathways)
Arf6 GTP-aseGeneProductP62330 (Uniprot-TrEMBL)
B3GALT6GeneProductENSG00000176022 (Ensembl)
BTBGeneProduct
Beta 1-3-linked galactoseMetabolite
C1PMetabolite6384103 (PubChem-compound)
C1QTNF12GeneProductENSG00000184163 (Ensembl)
C1orf159GeneProductENSG00000131591 (Ensembl)
CALML6GeneProductENSG00000169885 (Ensembl)
CCNL2 GeneProductENSG00000221978 (Ensembl)
CDK11AGeneProductENSG00000008128 (Ensembl)
CDK11BGeneProductENSG00000248333 (Ensembl) "cyclin dependent kinase 11B. member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Plays multiple roles in cell cycle progression, cytokinesis and apoptosis. Involved in pre-mRNA splicing in a kinase activity-dependent manner." mitotic cell cycle, regulation cell growth and DNA templated transcription, regulation of mRNA processing, nucleotide/RNA/ATP/protein . pathways: G2/M transition, centrosome maturation, cell cycle, recruitment mitotic centrosome binding, kinase/transferase activity
CFAP74GeneProductENSG00000142609 (Ensembl)
COMMD1GeneProductENSG00000173163 (Ensembl)
CPTPGeneProductENSG00000224051 (Ensembl)
CUL3GeneProduct8452 (Entrez Gene)
Canonical NF-kB pathwayPathwayWP4562 (WikiPathways)
Cell cyclePathwayWP844 (WikiPathways)
Chronic hyperglycemia impairment of neuron function PathwayWP5283 (WikiPathways)
Class I MHC mediated antigen processing and presentationPathwayWP2722 (WikiPathways)
CytokinesisPathwayWP530 (WikiPathways)
DKK3GeneProductENSG00000050165 (Ensembl)
DLSTGeneProductENSG00000119689 (Ensembl)
DNA repair pathwaysPathwayWP4946 (WikiPathways)
DVL1GeneProductENSG00000107404 (Ensembl)
DiacylglycerolMetaboliteHMDB0242173 (HMDB)
E3 ubiquitin-protein ligase complexGeneProduct
ELAVL1GeneProduct1994 (Entrez Gene)
ENaC Subunit of Epithelial Sodium ChannelGeneProductENST00000379116.10 (Ensembl)
ESR1GeneProductENSG00000091831 (Ensembl)
FAAP20GeneProductENSG00000162585 (Ensembl)
FNDC10GeneProductENSG00000228594 (Ensembl) fibronectin type III domain containing 10 in membrane Predicted to be integral component of membrane.
GABRDGeneProductENSG00000187730 (Ensembl)
GDE1GeneProductENSG00000006007 (Ensembl)
GNB1GeneProductENSG00000078369 (Ensembl)
GRIK2/GLUR6GeneProduct2898 (Entrez Gene)
Glucogenesis PathwayWP534 (WikiPathways)
Glucose ImportPathwayWP534 (WikiPathways)
HDAC p53/TP53 GeneProduct
HES4GeneProductENSG00000188290 (Ensembl) HES4 promotes inititiation of early T-cell development via notch signalling
HSPA8GeneProductENSG00000109971 (Ensembl)
IFIH1GeneProductENSG00000115267 (Ensembl)
IFIT1GeneProductENSG00000185745 (Ensembl)
IL-1 induced activation of NF-kBPathwayWP3656 (WikiPathways)
IL-1B Synthesis PathwayR-HSA-448706 (Reactome)
IL-4 signaling pathwayPathwayWP395 (WikiPathways)
INTS10GeneProductENSG00000104613 (Ensembl)
INTS11 GeneProductENSG00000127054 (Ensembl)
INTS13 GeneProductENSG00000064102 (Ensembl)
INTS14 GeneProductENSG00000138614 (Ensembl)
INTS4GeneProductENSG00000149262 (Ensembl)
INTS9 GeneProductENSG00000104299 (Ensembl)
IP3MetaboliteCHEBI:16595 (ChEBI)
ISG15GeneProductENSG00000187608 (Ensembl) Ubiquiting-like protein
Insulin Receptor Signalling PathwayPathwayWP481 (WikiPathways)
KLHL17GeneProductENSG00000187961 (Ensembl) Promotes profileration + migration via the Ras + MAPK pathway
KRT17GeneProductENSG00000128422 (Ensembl)
LRP4GeneProductENSG00000134569 (Ensembl)
MCM2GeneProductENSG00000073111 (Ensembl)
MEPCEGeneProductENSG00000146834 (Ensembl)
METTL14 GeneProductENSG00000145388 (Ensembl)
MIB2GeneProductENSG00000197530 (Ensembl) MIB E3 ubiquitin protein ligase 2 or skeletrophin. The protein encoded by this gene is an E3 ubiquitin protein ligase that mediates ubiquitination of proteins in the Notch signaling pathway. The encoded protein may be a suppressor of melanoma invasion. "protein encoding, pathways: notch signaling and siganl transduction, protein ubiquitination, regulation of NFkB singaling, actrin binding, zinc and metal ion binding, transferase activity. mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors."
MIR1302-2RnaENSG00000284332 (Ensembl) Chromosome 1:30,366-30,503
MIR200ARnaENSG00000207607 (Ensembl)
MIR200BRnaENSG00000207730 (Ensembl) ncRNA (MiRNA)
MIR429RnaENSG00000198976 (Ensembl)
MIR6726RnaENSG00000278073 (Ensembl)
MIR6727RnaENSG00000283712 (Ensembl)
MIR6808RnaENSG00000284372 (Ensembl)
MIR6859-1RnaENSG00000278267 (Ensembl) RS:Chromosome 1:17,369-17,436
MIR6859-2RnaENSG00000273874 (Ensembl) RS:Chromosome 1:187,891-187,958
MMP23BGeneProductENSG00000189409 (Ensembl) matrix metallopeptidase 23B. it is part of a duplicated region of chromosome 1p36.3. Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis.

"reproduction, proteolysis, ECM organization, collagen catabolic process, pepitdase/hydrolase activtiy, zinc and metal ion binding. Protease.

May regulate the surface expression of some potassium channels by retaining them in the endoplasmic reticulum "
MORN1GeneProductENSG00000116151 (Ensembl)
MRPL20GeneProductENSG00000224870 (Ensembl)
  • affiliated with the lncRNA class, appendicular lean mass; is a measurement of skeletal strength of lower limbs and is used as a predictive measure of hip fracture.
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MUSKGeneProductENSG00000030304 (Ensembl)
MXRA8 GeneProductENSG00000162576 (Ensembl)
Matrix metalloproteinasesPathwayWP129 (WikiPathways)
Mitochondrial Biogenesis PathwayWP3331 (WikiPathways)
Mitochondrial translation PathwayWP3310 (WikiPathways)
Mitotic G2-G2/M phasesPathwayWP1859 (WikiPathways)
NAD+MetaboliteCHEBI:15846 (ChEBI)
NADKGeneProductENSG00000008130 (Ensembl)
NADP+MetaboliteHMDB0304435 (HMDB)
NFkB activation via TRAF2/NIKPathwayWP3849 (WikiPathways)
NLRP3 InflammasomePathwayR-HSA-844456 (Reactome)
NOC2LGeneProductENSG00000188976 (Ensembl) NOC2L is an inhibitor of histone acetyltransferase (INHAT)
NOTCH1/2/3 signaling PathwayWP2720 / WP2718 / WP2722 (WikiPathways)
Neuron MorphogenesisPathway
OR4F16GeneProductENSG00000284662 (Ensembl)
OR4F29GeneProductENSG00000284733 (Ensembl) RS:Chromosome 1:450,740-451,678
ORF4F5GeneProductENSG00000186092 (Ensembl) Chromosome 1: 65,419-71,585
Olfactory receptor activity PathwayWP3608 (WikiPathways)
PARD6BGeneProductENSG00000124171 (Ensembl)
PERM1GeneProductENSG00000187642 (Ensembl) Regulates energy metabolism via ERPa/PGC-1a
PEX10GeneProduct5192 (Entrez Gene)
PEX12GeneProduct5193 (Entrez Gene)
PEX2GeneProduct5828 (Entrez Gene)
PEX5GeneProductENSG00000139197 (Ensembl)
PHKG2GeneProductENSG00000156873 (Ensembl)
PI3K-Akt signaling pathwayPathwayWP4172 (WikiPathways)
PI3K-Akt-mTOR-signalingPathwayWP3932 (WikiPathways)
PI3K-AktPathwayWP4172 (WikiPathways)
PIP2MetaboliteQ3083814 (Wikidata)
PLCH2GeneProductENSG00000149527 (Ensembl)
PLEKHN1GeneProductENSG00000187583 (Ensembl) Promote apoptosis via Bax-Bak
PRKCZGeneProductENSG00000067606 (Ensembl)
PUSL1GeneProductENSG00000169972 (Ensembl)
Post-translational

protein phosphorylation

PathwayWP4110 (WikiPathways)
Proinflammatory Gene ExpressionPathwayWP195 (WikiPathways)
RBX1GeneProduct9978 (Entrez Gene)
RER1GeneProductENSG00000157916 (Ensembl)
RNA polymerase II transcribes snRNA genes PathwayWP3827 (WikiPathways)
RNF223GeneProductENSG00000237330 (Ensembl)
Regulation of IGF

transport and uptake by IGF binding proteins

PathwayWP2799 (WikiPathways)
SAMD11GeneProductENSG00000187634 (Ensembl)
SCNN1DGeneProductENSG00000162572 (Ensembl)
SDF4GeneProductENSG00000078808 (Ensembl)
SKIGeneProductENSG00000157933 (Ensembl)
SLC35E2BGeneProductSLC35E2B (HGNC) solute carrier family 35 member E2B , . Predicted to be involved in transmembrane transport. Predicted to act upstream of or within blastocyst hatching. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. transmembrane transport, antiporter activity
SMAD2GeneProductSMAD2 (HGNC)
SMAD3GeneProductSMAD3 (HGNC)
SMAD4GeneProductSMAD4 (HGNC)
SSU72GeneProductENSG00000160075 (Ensembl)
TAS1R3GeneProductENSG00000169962 (Ensembl)
TGF-B signaling pathway PathwayWP366 (WikiPathways)
TGFB1 GeneProductENSG00000105329 (Ensembl)
TMEM240GeneProductENSG00000228594 (Ensembl)
  • transmembrane protein 240 inplasma membrane. synaptic membrane as well. this gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. protein encoding
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TMEM52GeneProductENSG00000178821 (Ensembl)
TMEM88BGeneProductENSG00000205116 (Ensembl) transmembrane protein 88B, Diseases associated with TMEM88B include Alexithymia. protein coding
TNFRSF18GeneProductENSG00000186891 (Ensembl)
TNFRSF4GeneProductENSG00000186827 (Ensembl)
TNFSF18GeneProductENSG00000120337 (Ensembl)
TNFSF4GeneProductENSG00000117586 (Ensembl)
TRIM25GeneProductENSG00000121060 (Ensembl)
UBE2J2GeneProductENSG00000160087 (Ensembl)
UDP-galactoseMetaboliteHMDB0000302 (HMDB)
UbiquitinationPathwayWP3199 (WikiPathways)
Umami Taste PerceptionPathwayWP1397 (WikiPathways)
VEGFProteinA0A024RD37 (Uniprot-TrEMBL)
VTN ProteinP04004 (Uniprot-TrEMBL)
VWA1GeneProductENSG00000179403 (Ensembl) von Willebrand factor A domain containing 1, A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function protein coding, enables ECM organization and identical protein binding, behavioral response to pain, protein binding. pathway regulation of insulin growth like factor binding, vital capacity, PTM phosphorylation/ modification, protein metabolism

cartilage structure ECM organization

identical protein binding
WNT-Signalling Pathway19587085 (WikiPathways)
mRNA 3'-Processing PathwayR-HSA-72187 (Reactome)
miR-targeted genes PathwayWP2002 (WikiPathways)
p53/TP53 apoptosisGeneProduct
pre-RNA splicingPathway
tRNA pseudouridine synthesisPathwayR-SCE-6790166 (Reactome)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5345"
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