5q35 copy number variation (Homo sapiens)

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34141331104724481823843346291, 22, 37, 453013382731612352719344431012421420112433171121361541242259, 4032535282412chr5:175,720,924acts as a H3K27 mimicincreases selectively H3K27me3 when knocked outmay bind to miRNA hairpinsinvolved in ER secretory pathwayStimulationInvolved in autophagy-related processesATP-dependent RNA helicaseDesensitization and internalizationCatalysisFunction unknownFacilitates ribosome bindingAggregationLEGENDDNA damage repairConversionLiposomeMay be involved in the regulation of neuronalsurvival, differentiation and axonal outgrowthFunction unknownMay play a role in cell-cell adhesion and contact inhibitionLipid droplet degradationPhosphorylatedUbiquitinatedNeurite outgrowthInhibitionRenal brush border membraneAccumulationBinding446Phosphatidylinositol 4,5-bisphosphateB4GALT7phosphatidic acidsApoptosisF-ActinBARD1UNC5ACOX6A1MAGED1GPRIN1INPP5DMYCBRCA1-A complexDiacylglycerolCa2+CXCR4NELFBBABAM1dsRNAIGF-1 signalingCOX6CssRNAhsa-miR-654-5pFAF2DOK3Canonical NF-kB pathwayGRIN2BGRK6GRIN1RAB24LMAN2COX5BPTPRN2H2AMT-CO1COX5ACOX8AZNF346COX6B1SNCAInositol 1,4,5-trisphosphatedsDNAARL10StaurosporinePRR7GNAI1SLC34A1FRS2ABRAXAS1SOS1UDPTMED2JUNBABAM2H2AXRGS14BRCA1PNPLA2High-mannose N-glycan groupNetrin signaling pathwayMAXEED6-HydroxydopamineTSPAN17TMED10HIC2CYP7A1TPM2BRCC3PIK3R1NSD1MAPK10GNAI3DDX41NOP16HIP1SRCIGF1RDBN1N-acetyl-D-galactosamineDRD2RN7SL684PFBXW7PRELID1SIMC1Phosphatidylinositol 3-phosphatePFN3O3-(4-β-D-galactosyl-β-D-xylosyl)-L-serine residueProtein ubiquitinationGAB1D-glucose 6-phosphatePolyprolineD-fructose-6-phosphateMAPK8COX7BHK3TMED9ApoptosisUSH1CUDP-α-D-galactoseCAPN3cardiolipinsRNF44G protein-coupled receptorsCLTBPLCG1MIR1271CDHR5COX4I1ABL1Coagulation cascadeEIF4E1BPrimary bile acid biosynthesisKIAA1191ANKS4BCOX7CActinPhosphateMYO7B7-methylguanosine-containing mRNA cap MAPK9ABHD5GRB2FAM193BPDLIM7GNAI2O-glycansHistone 3MXD3MIR4281PTPN2O3-(β-D-xylosyl)-L-serine residueD-glucoseCOX7A1KDM6BSNCBUIMC1FGFR4FGF19HIGD2AMT-CO3RNAD-fructoseNTN1MT-CO2Phosphatidylinositol 4-phosphateHIP1RPTHF12ARFGAP2TRIAP1FGF125Controls the packing of microvilli at the apical membrane of epithelial cellsCDHR57ADAM10HIGD2ACDHR2CDHR2Function unknownFRS2PLCG1PPMAP kinase signaling pathwayPI3K-AKT1 signaling pathwaySecondary bile acid biosynthesisHistone 3MMPRELID1phosphatidic acidsLiposomephosphatidic acidsGNAI3MAP kinase signaling pathwayNa+PhosphateNa+G protein-coupled receptorsPJUNJUNJUNPUPUMethylatedMchr5:175,720,9242017415UIMC1424343PRR7PRR732484848


Description

A deletion in the chromosomal region 5q35 can cause the rare genetic disorder Sotos syndrome. Sotos syndrome is characterised by psychiatric disorders (autism, intellectual disability, developmental delay) and excessive growth. Also, duplication of 5q35 have been recorded.

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Ontology Terms

 

Bibliography

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  1. Mueller B, Klemm EJ, Spooner E, Claessen JH, Ploegh HL; ''SEL1L nucleates a protein complex required for dislocation of misfolded glycoproteins.''; Proc Natl Acad Sci U S A, 2008 PubMed Europe PMC Scholia
  2. Qiao Q, Li Y, Chen Z, Wang M, Reinberg D, Xu RM; ''The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation.''; J Biol Chem, 2011 PubMed Europe PMC Scholia
  3. Kubacka D, Miguel RN, Minshall N, Darzynkiewicz E, Standart N, Zuberek J; ''Distinct features of cap binding by eIF4E1b proteins.''; J Mol Biol, 2015 PubMed Europe PMC Scholia
  4. Chen CY, Brodsky FM; ''Huntingtin-interacting protein 1 (Hip1) and Hip1-related protein (Hip1R) bind the conserved sequence of clathrin light chains and thereby influence clathrin assembly in vitro and actin distribution in vivo.''; J Biol Chem, 2005 PubMed Europe PMC Scholia
  5. Burge RG, Martinez-Yamout MA, Dyson HJ, Wright PE; ''Structural characterization of interactions between the double-stranded RNA-binding zinc finger protein JAZ and nucleic acids.''; Biochemistry, 2014 PubMed Europe PMC Scholia
  6. Reyat JS, Chimen M, Noy PJ, Szyroka J, Rainger GE, Tomlinson MG; ''ADAM10-Interacting Tetraspanins Tspan5 and Tspan17 Regulate VE-Cadherin Expression and Promote T Lymphocyte Transmigration.''; J Immunol, 2017 PubMed Europe PMC Scholia
  7. Crawley SW, Shifrin DA Jr, Grega-Larson NE, McConnell RE, Benesh AE, Mao S, Zheng Y, Zheng QY, Nam KT, Millis BA, Kachar B, Tyska MJ; ''Intestinal brush border assembly driven by protocadherin-based intermicrovillar adhesion.''; Cell, 2014 PubMed Europe PMC Scholia
  8. Cool DE, MacGillivray RT; ''Characterization of the human blood coagulation factor XII gene. Intron/exon gene organization and analysis of the 5'-flanking region.''; J Biol Chem, 1987 PubMed Europe PMC Scholia
  9. da Costa CA, Masliah E, Checler F; ''Beta-synuclein displays an antiapoptotic p53-dependent phenotype and protects neurons from 6-hydroxydopamine-induced caspase 3 activation: cross-talk with alpha-synuclein and implication for Parkinson's disease.''; J Biol Chem, 2003 PubMed Europe PMC Scholia
  10. Tahvanainen J, Kallonen T, La¤hteenma¤ki H, Heiskanen KM, Westermarck J, Rao KV, Lahesmaa R; ''PRELI is a mitochondrial regulator of human primary T-helper cell apoptosis, STAT6, and Th2-cell differentiation.''; Blood, 2009 PubMed Europe PMC Scholia
  11. Vainikka S, Joukov V, Wennström S, Bergman M, Pelicci PG, Alitalo K; ''Signal transduction by fibroblast growth factor receptor-4 (FGFR-4). Comparison with FGFR-1.''; J Biol Chem, 1994 PubMed Europe PMC Scholia
  12. Luo R, Ha VL, Hayashi R, Randazzo PA; ''Arf GAP2 is positively regulated by coatomer and cargo.''; Cell Signal, 2009 PubMed Europe PMC Scholia
  13. Williams ME, Strickland P, Watanabe K, Hinck L; ''UNC5H1 induces apoptosis via its juxtamembrane region through an interaction with NRAGE.''; J Biol Chem, 2003 PubMed Europe PMC Scholia
  14. Treiber T, Treiber N, Plessmann U, Harlander S, Daiß JL, Eichner N, Lehmann G, Schall K, Urlaub H, Meister G; ''A Compendium of RNA-Binding Proteins that Regulate MicroRNA Biogenesis.''; Mol Cell, 2017 PubMed Europe PMC Scholia
  15. Anamika, Markin CJ, Rout MK, Spyracopoulos L; ''Molecular basis for impaired DNA damage response function associated with the RAP80 deltaE81 defect.''; J Biol Chem, 2014 PubMed Europe PMC Scholia
  16. Hrdinka M, Draber P, Stepa¡nek O, Ormsby T, Ota¡hal P, Angelisova¡ P, Brdicka T, Paces J, Horejsa­ V, Drbal K; ''PRR7 is a transmembrane adaptor protein expressed in activated T cells involved in regulation of T cell receptor signaling and apoptosis.''; J Biol Chem, 2011 PubMed Europe PMC Scholia
  17. Mishra M, Inoue N, Heese K; ''Characterizing the novel protein p33MONOX.''; Mol Cell Biochem, 2011 PubMed Europe PMC Scholia
  18. Luo F, Liao Y, Cao E, Yang Y, Tang K, Zhou D, Cai H; ''Hypermethylation of HIC2 is a potential prognostic biomarker and tumor suppressor of glioma based on bioinformatics analysis and experiments.''; CNS Neurosci Ther, 2023 PubMed Europe PMC Scholia
  19. Polprasert C, Schulze I, Sekeres MA, Makishima H, Przychodzen B, Hosono N, Singh J, Padgett RA, Gu X, Phillips JG, Clemente M, Parker Y, Lindner D, Dienes B, Jankowsky E, Saunthararajah Y, Du Y, Oakley K, Nguyen N, Mukherjee S, Pabst C, Godley LA, Churpek JE, Pollyea DA, Krug U, Berdel WE, Klein HU, Dugas M, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Yoshida K, Ogawa S, Müller-Tidow C, Maciejewski JP; ''Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms.''; Cancer Cell, 2015 PubMed Europe PMC Scholia
  20. Pa©rez-Marta­nez M, Gorda³n-Alonso M, Cabrero JR, Barrero-Villar M, Rey M, Mittelbrunn M, Lamana A, Morlino G, Calabia C, Yamazaki H, Shirao T, Va¡zquez J, Gonza¡lez-Amaro R, Veiga E, Sa¡nchez-Madrid F; ''F-actin-binding protein drebrin regulates CXCR4 recruitment to the immune synapse.''; J Cell Sci, 2010 PubMed Europe PMC Scholia
  21. Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K; ''A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.''; N Engl J Med, 2010 PubMed Europe PMC Scholia
  22. Nufer O, Mitrovic S, Hauri HP; ''Profile-based data base scanning for animal L-type lectins and characterization of VIPL, a novel VIP36-like endoplasmic reticulum protein.''; J Biol Chem, 2003 PubMed Europe PMC Scholia
  23. Magagnin S, Werner A, Markovich D, Sorribas V, Stange G, Biber J, Murer H; ''Expression cloning of human and rat renal cortex Na/Pi cotransport.''; Proc Natl Acad Sci U S A, 1993 PubMed Europe PMC Scholia
  24. Ylä-Anttila P, Eskelinen EL; ''Roles for RAB24 in autophagy and disease.''; Small GTPases, 2018 PubMed Europe PMC Scholia
  25. Behnen M, Murk K, Kursula P, Cappallo-Obermann H, Rothkegel M, Kierszenbaum AL, Kirchhoff C; ''Testis-expressed profilins 3 and 4 show distinct functional characteristics and localize in the acroplaxome-manchette complex in spermatids.''; BMC Cell Biol, 2009 PubMed Europe PMC Scholia
  26. Cho H, Kehrl JH; ''Localization of Gi alpha proteins in the centrosomes and at the midbody: implication for their role in cell division.''; J Cell Biol, 2007 PubMed Europe PMC Scholia
  27. Kurosu H, Choi M, Ogawa Y, Dickson AS, Goetz R, Eliseenkova AV, Mohammadi M, Rosenblatt KP, Kliewer SA, Kuro-O M; ''Tissue-specific expression of betaKlotho and fibroblast growth factor (FGF) receptor isoforms determines metabolic activity of FGF19 and FGF21.''; J Biol Chem, 2007 PubMed Europe PMC Scholia
  28. Wang B, Matsuoka S, Ballif BA, Zhang D, Smogorzewska A, Gygi SP, Elledge SJ; ''Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response.''; Science, 2007 PubMed Europe PMC Scholia
  29. Zhou W, Li P, Jin P; ''miR-654-5p promotes gastric cancer progression via the GPRIN1/NF-kappaB pathway.''; Open Med (Wars), 2021 PubMed Europe PMC Scholia
  30. Vukotic M, Oeljeklaus S, Wiese S, Va¶gtle FN, Meisinger C, Meyer HE, Zieseniss A, Katschinski DM, Jans DC, Jakobs S, Warscheid B, Rehling P, Deckers M; ''Rcf1 mediates cytochrome oxidase assembly and respirasome formation, revealing heterogeneity of the enzyme complex.''; Cell Metab, 2012 PubMed Europe PMC Scholia
  31. Hurlin PJ, Quéva C, Koskinen PJ, Steingrímsson E, Ayer DE, Copeland NG, Jenkins NA, Eisenman RN; ''Mad3 and Mad4: novel Max-interacting transcriptional repressors that suppress c-myc dependent transformation and are expressed during neural and epidermal differentiation.''; EMBO J, 1995 PubMed Europe PMC Scholia
  32. Kravchick DO, Karpova A, Hrdinka M, Lopez-Rojas J, Iacobas S, Carbonell AU, Iacobas DA, Kreutz MR, Jordan BA; ''Synaptonuclear messenger PRR7 inhibits c-Jun ubiquitination and regulates NMDA-mediated excitotoxicity.''; EMBO J, 2016 PubMed Europe PMC Scholia
  33. Takashima K, Lee DJ, Trovero MF, Rothi MH, Mistry M, Zhang Y, Li Z, Davis CP, Natale J, Schmid E, Al Haddad J, Hoffmann GB, Dietmann S, Sui SH, Oshiumi H, Lieberman J, Greer EL; ''NOP16 is a histone mimetic that regulates Histone H3K27 methylation and gene repression.''; bioRxiv, 2023 PubMed Europe PMC Scholia
  34. Osorio FG, Soria-Valles C, Santiago-Ferna¡ndez O, Bernal T, Mittelbrunn M, Colado E, Rodra­guez F, Bonzon-Kulichenko E, Va¡zquez J, Porta-de-la-Riva M, Cera³n J, Fueyo A, Li J, Green AR, Freije JM, La³pez-Ota­n C; ''Loss of the proteostasis factor AIRAPL causes myeloid transformation by deregulating IGF-1 signaling.''; Nat Med, 2016 PubMed Europe PMC Scholia
  35. Xia Y, Yan LH, Huang B, Liu M, Liu X, Huang C; ''Pathogenic mutation of UBQLN2 impairs its interaction with UBXD8 and disrupts endoplasmic reticulum-associated protein degradation.''; J Neurochem, 2014 PubMed Europe PMC Scholia
  36. Zhang Y, Zhang S, Wang Y, Yang Z, Chen Z, Wen N, Yang M, Huang Z, Xie Y, Cai L; ''ULK1 Suppresses Osteoclast Differentiation and Bone Resorption via Inhibiting Syk-JNK through DOK3.''; Oxid Med Cell Longev, 2021 PubMed Europe PMC Scholia
  37. Ono Y, Iemura S, Novak SM, Doi N, Kitamura F, Natsume T, Gregorio CC, Sorimachi H; ''PLEIAD/SIMC1/C5orf25, a novel autolysis regulator for a skeletal-muscle-specific calpain, CAPN3, scaffolds a CAPN3 substrate, CTBP1.''; J Mol Biol, 2013 PubMed Europe PMC Scholia
  38. Guy PM, Kenny DA, Gill GN; ''The PDZ domain of the LIM protein enigma binds to beta-tropomyosin.''; Mol Biol Cell, 1999 PubMed Europe PMC Scholia
  39. Hashimoto M, Rockenstein E, Mante M, Mallory M, Masliah E; ''beta-Synuclein inhibits alpha-synuclein aggregation: a possible role as an anti-parkinsonian factor.''; Neuron, 2001 PubMed Europe PMC Scholia
  40. Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M; ''Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.''; J Am Soc Nephrol, 2016 PubMed Europe PMC Scholia
  41. Loo BB, Darwish KK, Vainikka SS, Saarikettu JJ, Vihko PP, Hermonen JJ, Goldman AA, Alitalo KK, Jalkanen MM; ''Production and characterization of the extracellular domain of recombinant human fibroblast growth factor receptor 4.''; Int J Biochem Cell Biol, 2000 PubMed Europe PMC Scholia
  42. Olzmann JA, Richter CM, Kopito RR; ''Spatial regulation of UBXD8 and p97/VCP controls ATGL-mediated lipid droplet turnover.''; Proc Natl Acad Sci U S A, 2013 PubMed Europe PMC Scholia
  43. Tsutsui Y, Ramakrishnan B, Qasba PK; ''Crystal structures of β-1,4-galactosyltransferase 7 enzyme reveal conformational changes and substrate binding.''; J Biol Chem, 2013 PubMed Europe PMC Scholia
  44. Pria© D, Huart V, Bakouh N, Planelles G, Dellis O, Ga©rard B, Hulin P, Benqua©-Blanchet F, Silve C, Grandchamp B, Friedlander G; ''Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.''; N Engl J Med, 2002 PubMed Europe PMC Scholia
  45. Okazaki N, Takahashi N, Kojima S, Masuho Y, Koga H; ''Protocadherin LKC, a new candidate for a tumor suppressor of colon and liver cancers, its association with contact inhibition of cell proliferation.''; Carcinogenesis, 2002 PubMed Europe PMC Scholia
  46. Gainetdinov RR, Bohn LM, Sotnikova TD, Cyr M, Laakso A, Macrae AD, Torres GE, Kim KM, Lefkowitz RJ, Caron MG, Premont RT; ''Dopaminergic supersensitivity in G protein-coupled receptor kinase 6-deficient mice.''; Neuron, 2003 PubMed Europe PMC Scholia
  47. Potting C, Tatsuta T, Ka¶nig T, Haag M, Wai T, Aaltonen MJ, Langer T; ''TRIAP1/PRELI complexes prevent apoptosis by mediating intramitochondrial transport of phosphatidic acid.''; Cell Metab, 2013 PubMed Europe PMC Scholia
  48. Palma F, Agostini D, Mason P, Dacha M, Piccoli G, Biagiarelli B, Fiorani M, Stocchi V; ''Purification and characterization of the carboxyl-domain of human hexokinase type III expressed as fusion protein.''; Mol Cell Biochem, 1996 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
134531view16:31, 22 July 2024EgonwAdded a missing datasource
134530view14:34, 22 July 2024EgonwRemoved template comments
134447view23:53, 21 July 2024EweitzOntology Term : 'disease of mental health' added !
127451view18:32, 3 October 2023Khanspersconnected one interaction and updated legend from interactions to graphical lines
127116view22:26, 3 August 2023AlexanderPicofixed characters in bibliography
127093view10:48, 2 August 2023FehrhartOntology Term : 'disease pathway' added !
127092view10:48, 2 August 2023FehrhartOntology Term : 'Sotos syndrome' added !
127091view10:47, 2 August 2023FehrhartModified description
127090view10:42, 2 August 2023Fehrhartcorrection
127089view10:00, 2 August 2023Fehrhartcorrection and update in progress
127084view14:01, 1 August 2023Fehrhartupdate and correction in progress
127083view10:24, 1 August 2023Fehrhartcorrecton and update in progress
127074view13:02, 27 July 2023Fehrhartcorrection in progress
127073view12:20, 27 July 2023Fehrhartcorrection in progress
127072view11:33, 27 July 2023Fehrhartcorrection in progress
127071view11:25, 27 July 2023Fehrhartcorrections
127070view10:18, 27 July 2023Fehrhartcorrections
127069view09:49, 27 July 2023Fehrhartcorrections
126928view06:05, 7 July 2023EgonwTyped a number of datanodes as metabolite
126854view20:43, 27 June 2023Ewoud
126850view09:41, 27 June 2023Ewoud
126848view09:31, 27 June 2023Ewoud
126676view16:03, 11 June 2023Ewoudfiller
126675view16:03, 11 June 2023Ewoudfiller
126674view16:02, 11 June 2023EwoudNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
GeneProduct
6-HydroxydopamineMetaboliteCHEBI:78741 (ChEBI)
7-methylguanosine-containing mRNA cap
ABHD5GeneProductENSG00000011198 (Ensembl)
ABL1GeneProductENSG00000097007 (Ensembl)
ABRAXAS1GeneProductENSG00000163322 (Ensembl)
ADAM10GeneProductENSG00000137845 (Ensembl)
ANKS4BGeneProductENSG00000175311 (Ensembl)
ARFGAP2GeneProductENSG00000149182 (Ensembl)
ARL10GeneProductENSG00000175414 (Ensembl)
ActinGeneProductPF00022 (Rfam)
ApoptosisPathwayWP254 (WikiPathways)
ApoptosisPathwaymap04210 (KEGG Pathway)
B4GALT7GeneProductENSG00000027847 (Ensembl)
BABAM1GeneProductENSG00000105393 (Ensembl)
BABAM2GeneProductENSG00000158019 (Ensembl)
BARD1GeneProductENSG00000138376 (Ensembl)
BRCA1-A complexCPX-4425Complex portal
BRCA1GeneProductENSG00000012048 (Ensembl)
BRCC3GeneProductENSG00000185515 (Ensembl)
CAPN3GeneProductENSG00000092529 (Ensembl)
CDHR2GeneProductENSG00000074276 (Ensembl)
CDHR5GeneProductENSG00000099834 (Ensembl)
CLTBGeneProductENSG00000175416 (Ensembl)
COX4I1GeneProductENSG00000131143 (Ensembl)
COX5AGeneProductENSG00000178741 (Ensembl)
COX5BGeneProductENSG00000135940 (Ensembl)
COX6A1GeneProductENSG00000111775 (Ensembl)
COX6B1GeneProductENSG00000126267 (Ensembl)
COX6CGeneProductENSG00000164919 (Ensembl)
COX7A1GeneProductENSG00000161281 (Ensembl)
COX7BGeneProductENSG00000131174 (Ensembl)
COX7CGeneProductENSG00000127184 (Ensembl)
COX8AGeneProductENSG00000176340 (Ensembl)
CXCR4GeneProductENSG00000121966 (Ensembl)
CYP7A1GeneProductENSG00000167910 (Ensembl)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
Canonical NF-kB pathwayPathwayWP4562 (WikiPathways)
Coagulation cascadePathwaymap04610 (KEGG Pathway)
D-fructose-6-phosphateMetaboliteQ32039197 (Wikidata)
D-fructoseMetaboliteCHEBI:15824 (ChEBI)
D-glucose 6-phosphateMetaboliteCHEBI:4170 (ChEBI)
D-glucoseMetaboliteCHEBI:17634 (ChEBI)
DBN1GeneProductENSG00000113758 (Ensembl)
DDX41GeneProductENSG00000183258 (Ensembl)
DOK3GeneProductENSG00000146094 (Ensembl)
DRD2GeneProductENSG00000149295 (Ensembl)
DiacylglycerolMetaboliteHMDB0242173 (HMDB)
EEDGeneProductENSG00000074266 (Ensembl)
EIF4E1BGeneProductENSG00000175766 (Ensembl)
F-ActinGeneProductPF00022 (Pfam)
F12GeneProductENSG00000131187 (Ensembl)
FAF2GeneProductENSG00000113194 (Ensembl)
FAM193BGeneProductENSG00000146067 (Ensembl)
FBXW7GeneProductENSG00000109670 (Ensembl)
FGF19GeneProductENSG00000162344 (Ensembl)
FGF1GeneProductENSG00000113578 (Ensembl)
FGFR4GeneProductENSG00000160867 (Ensembl)
FRS2GeneProductENSG00000166225 (Ensembl)
G protein-coupled receptors
GAB1GeneProductENSG00000109458 (Ensembl)
GNAI1GeneProductENSG00000127955 (Ensembl)
GNAI2GeneProductENSG00000114353 (Ensembl)
GNAI3GeneProductENSG00000065135 (Ensembl)
GPRIN1GeneProductENSG00000169258 (Ensembl)
GRB2GeneProductENSG00000177885 (Ensembl)
GRIN1GeneProductENSG00000176884 (Ensembl)
GRIN2BGeneProductENSG00000273079 (Ensembl)
GRK6GeneProductENSG00000198055 (Ensembl)
H2AGeneProduct
H2AXGeneProductENSG00000188486 (Ensembl)
HIC2GeneProductENSG00000169635 (Ensembl)
HIGD2AGeneProductENSG00000146066 (Ensembl)
HIP1GeneProductENSG00000127946 (Ensembl)
HIP1RGeneProductENSG00000130787 (Ensembl)
HK3GeneProductENSG00000160883 (Ensembl)
High-mannose N-glycan groupMetaboliteCHEBI:156208 (ChEBI)
Histone 3GeneProductENSG00000163041 (Ensembl)
IGF-1 signalingPathwayWP2892 (WikiPathways)
IGF1RGeneProductENSG00000140443 (Ensembl)
INPP5DGeneProductENSG00000168918 (Ensembl)
Inositol 1,4,5-trisphosphateMetaboliteCHEBI:16595 (ChEBI)
JUNGeneProductENSG00000177606 (Ensembl)
KDM6BGeneProductENSG00000132510 (Ensembl) JMJD3
KIAA1191GeneProductENSG00000122203 (Ensembl)
LMAN2GeneProductENSG00000169223 (Ensembl)
MAGED1GeneProductENSG00000179222 (Ensembl)
MAP kinase signaling pathwayPathwaymap04010 (KEGG Pathway)
MAPK10GeneProductENSG00000109339 (Ensembl)
MAPK8GeneProductENSG00000107643 (Ensembl)
MAPK9GeneProductENSG00000050748 (Ensembl)
MAXGeneProductENSG00000125952 (Ensembl)
MIR1271GeneProductENSG00000221464 (Ensembl)
MIR4281GeneProductENSG00000266329 (Ensembl)
MT-CO1GeneProductENSG00000198804 (Ensembl)
MT-CO2GeneProductENSG00000198712 (Ensembl)
MT-CO3GeneProductENSG00000198938 (Ensembl)
MXD3GeneProductENSG00000213347 (Ensembl)
MYCGeneProductENSG00000136997 (Ensembl)
MYO7BGeneProductENSG00000169994 (Ensembl)
N-acetyl-D-galactosamineMetaboliteCHEBI:28037 (ChEBI)
NELFBGeneProductENSG00000188986 (Ensembl)
NOP16GeneProductENSG00000048162 (Ensembl)
NSD1GeneProductENSG00000165671 (Ensembl)
NTN1GeneProductENSG00000065320 (Ensembl)
Na+MetaboliteCHEBI:29101 (ChEBI)
Netrin signaling pathwayPathwayWP4747 (WikiPathways)
O-glycansMetaboliteCHEBI:59521 (ChEBI)
O3-(4-β-D-galactosyl-β-D-xylosyl)-L-serine residueMetabolite132088 (ChEBI)
O3-(β-D-xylosyl)-L-serine residueMetabolite132085 (ChEBI)
PDLIM7GeneProductENSG00000196923 (Ensembl)
PFN3GeneProductENSG00000196570 (Ensembl)
PI3K-AKT1 signaling pathwayPathwaymap04151 (KEGG Pathway)
PIK3R1GeneProductENSG00000145675 (Ensembl)
PLCG1GeneProductENSG00000124181 (Ensembl)
PNPLA2GeneProductENSG00000177666 (Ensembl)
PRELID1GeneProductENSG00000169230 (Ensembl)
PRR7GeneProductENSG00000131188 (Ensembl)
PTHGeneProductENSG00000152266 (Ensembl)
PTPN2GeneProductENSG00000175354 (Ensembl)
PTPRN2GeneProductENSG00000155093 (Ensembl)
PhosphateMetaboliteCHEBI:43474 (ChEBI)
Phosphatidylinositol 3-phosphateMetaboliteCHEBI:26034 (ChEBI)
Phosphatidylinositol 4,5-bisphosphateMetaboliteCHEBI:18348 (ChEBI)
Phosphatidylinositol 4-phosphateMetaboliteCHEBI:17526 (ChEBI)
PolyprolineMetaboliteCHEBI:8321 (ChEBI)
Primary bile acid biosynthesisPathwaymap00120 (KEGG Pathway)
Protein ubiquitinationPathwayWP4125 (WikiPathways)
RAB24GeneProductENSG00000169228 (Ensembl)
RGS14GeneProductENSG00000169220 (Ensembl)
RN7SL684PGeneProductENSG00000243959 (Ensembl)
RNAMetaboliteCHEBI:33697 (ChEBI)
RNF44GeneProductENSG00000146083 (Ensembl)
SIMC1GeneProductENSG00000170085 (Ensembl)
SLC34A1GeneProductENSG00000131183 (Ensembl)
SNCAGeneProductENSG00000145335 (Ensembl)
SNCBGeneProductENSG00000074317 (Ensembl)
SOS1GeneProductENSG00000115904 (Ensembl)
SRCGeneProductENSG00000197122 (Ensembl)
Secondary bile acid biosynthesisPathwaymap00121 (KEGG Pathway)
StaurosporineMetaboliteCHEBI:57491 (ChEBI)
TMED10GeneProductENSG00000170348 (Ensembl)
TMED2GeneProductENSG00000086598 (Ensembl)
TMED9GeneProductENSG00000184840 (Ensembl)
TPM2GeneProductENSG00000198467 (Ensembl)
TRIAP1GeneProductENSG00000170855 (Ensembl)
TSPAN17GeneProductENSG00000048140 (Ensembl)
UDP-α-D-galactoseMetabolite66914 (ChEBI)
UDPMetabolite58223 (ChEBI)
UIMC1GeneProductENSG00000087206 (Ensembl)
UNC5AGeneProductENSG00000113763 (Ensembl)
USH1CGeneProductENSG00000006611 (Ensembl)
ZNF346GeneProductENSG00000113761 (Ensembl)
cardiolipinsMetaboliteCHEBI:28494 (ChEBI)
dsDNAMetaboliteCHEBI:4705 (ChEBI)
dsRNARna
hsa-miR-654-5pRnaMIMAT0003330 (miRBase mature sequence)
phosphatidic acidsMetaboliteCHEBI:16337 (ChEBI)
ssRNARna

Annotated Interactions

SourceTargetTypeDatabase referenceComment
B4GALT7mim-catalysis15297 (Rhea)
O3-(β-D-xylosyl)-L-serine residueO3-(4-β-D-galactosyl-β-D-xylosyl)-L-serine residuemim-conversion15297 (Rhea)
UDP-α-D-galactoseUDPmim-conversion15297 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5380"
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