7q11.23 copy number variation syndrome (Homo sapiens)

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111313, 6117254, 927121082increased Ca2+ fluxfunction not knownclearance of ubiquitinated proteins in the aggreasomemethylation of rRNAinvolved in protein synthesisChromosome 7:72,744,454PMS2P7CO2RNU6-1080PPOM121UBE2E3TRIM74VPS37DNCF1BUBE2E1DNAJC30FZD9RN7SL625PBCL7BNuclear pore complexS-adenosyl-L-homocysteine zwitterionTYW1BL-methionine zwitterionpyruvateH2OBECN1TBL2GTF2IRD2P1GAPDHMLXIPL5'-deoxyadenosineSPDYE10PUBE2L6TMEM270RNU6-1198PZC3H12AFK506NUP62SBDSP1METTL27S-adenosyl-L-methionine zwitterionHSPA2BAZ1BSPDYE9TCF4cytidine 5'-monophosphate(1−) residueN1-methylguanosine 5'-monophosphate(1−) residueBUD23ELN-AS1synaptonemal complexSPDYE8HDAC6rapamycinCLDN3PHBP5CLTCNSUN5P2ABHD11-AS1TRIM50CHRNA7SPDYE7PULK1LIMK1RN7SL377PPOM121BPMS2P6STX1A5-methylcytidine 5'-monophosphate(1−) residue4-demethylwyosine 5'-monophosphate(1−) residueNSUN5GTF2IP4ELNRN7SL265PSTAG3L3CLDN4ABHD11SPDYE11SQSTM1S-adenosyl-L-methionine zwitterionFKBP6MIR4284Chromosome 7:74,142,513RNA genephosphorylated statepseudo geneubiquitinated stateBECN1UBECN1U7TRIM501TRIM505511Schizophrenia risk gene4, 94, 94, 9FKBP6


Description

Williams-Beuren region duplication syndrome (MIM 609757, also called WBS duplication syndrome, Chromosome 7q11.23 duplication syndrome, or Somerville-van-der-Aa syndrome) is a copy number variation syndrome with a duplication in the region chr7:72,744,454-74,142,513.

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Ontology Terms

 

Bibliography

View all...
  1. Katahira J, Sugiyama H, Inoue N, Horiguchi Y, Matsuda M, Sugimoto N; ''Clostridium perfringens enterotoxin utilizes two structurally related membrane proteins as functional receptors in vivo.''; J Biol Chem, 1997 PubMed Europe PMC Scholia
  2. Funakoshi T, Maeshima K, Yahata K, Sugano S, Imamoto F, Imamoto N; ''Two distinct human POM121 genes: requirement for the formation of nuclear pore complexes.''; FEBS Lett, 2007 PubMed Europe PMC Scholia
  3. Craig TJ, Anderson D, Evans AJ, Girach F, Henley JM; ''SUMOylation of Syntaxin1A regulates presynaptic endocytosis.''; Sci Rep, 2015 PubMed Europe PMC Scholia
  4. Tebbenkamp ATN, Varela L, Choi J, Paredes MI, Giani AM, Song JE, Sestan-Pesa M, Franjic D, Sousa AMM, Liu ZW, Li M, Bichsel C, Koch M, Szigeti-Buck K, Liu F, Li Z, Kawasawa YI, Paspalas CD, Mineur YS, Prontera P, Merla G, Picciotto MR, Arnsten AFT, Horvath TL, Sestan N; ''The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development.''; Cell, 2018 PubMed Europe PMC Scholia
  5. Crackower MA, Kolas NK, Noguchi J, Sarao R, Kikuchi K, Kaneko H, Kobayashi E, Kawai Y, Kozieradzki I, Landers R, Mo R, Hui CC, Nieves E, Cohen PE, Osborne LR, Wada T, Kunieda T, Moens PB, Penninger JM; ''Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis.''; Science, 2003 PubMed Europe PMC Scholia
  6. Poot RA, Bozhenok L, van den Berg DL, Steffensen S, Ferreira F, Grimaldi M, Gilbert N, Ferreira J, Varga-Weisz PD; ''The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci.''; Nat Cell Biol, 2004 PubMed Europe PMC Scholia
  7. Kawaguchi T, Takenoshita M, Kabashima T, Uyeda K; ''Glucose and cAMP regulate the L-type pyruvate kinase gene by phosphorylation/dephosphorylation of the carbohydrate response element binding protein.''; Proc Natl Acad Sci U S A, 2001 PubMed Europe PMC Scholia
  8. Yan J, Seibenhener ML, Calderilla-Barbosa L, Diaz-Meco MT, Moscat J, Jiang J, Wooten MW, Wooten MC; ''SQSTM1/p62 interacts with HDAC6 and regulates deacetylase activity.''; PLoS One, 2013 PubMed Europe PMC Scholia
  9. Tsukumo Y, Tsukahara S, Furuno A, Iemura S, Natsume T, Tomida A; ''TBL2 is a novel PERK-binding protein that modulates stress-signaling and cell survival during endoplasmic reticulum stress.''; PLoS One, 2014 PubMed Europe PMC Scholia
  10. Jarczowski F, Fischer G, Edlich F; ''FKBP36 forms complexes with clathrin and Hsp72 in spermatocytes.''; Biochemistry, 2008 PubMed Europe PMC Scholia
  11. Coyne CB, Gambling TM, Boucher RC, Carson JL, Johnson LG; ''Role of claudin interactions in airway tight junctional permeability.''; Am J Physiol Lung Cell Mol Physiol, 2003 PubMed Europe PMC Scholia
  12. Heissenberger C, Liendl L, Nagelreiter F, Gonskikh Y, Yang G, Stelzer EM, Krammer TL, Micutkova L, Vogt S, Kreil DP, Sekot G, Siena E, Poser I, Harreither E, Linder A, Ehret V, Helbich TH, Grillari-Voglauer R, Jansen-Dürr P, Koš M, Polacek N, Grillari J, Schosserer M; ''Loss of the ribosomal RNA methyltransferase NSUN5 impairs global protein synthesis and normal growth.''; Nucleic Acids Res, 2019 PubMed Europe PMC Scholia
  13. Fusco C, Micale L, Egorov M, Monti M, D'Addetta EV, Augello B, Cozzolino F, Calcagnì A, Fontana A, Polishchuk RS, Didelot G, Reymond A, Pucci P, Merla G; ''The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome.''; PLoS One, 2012 PubMed Europe PMC Scholia
  14. Britsch S; ''The neuregulin-I/ErbB signaling systemin development and disease.''; Adv Anat Embryol Cell Biol, 2007 PubMed Europe PMC Scholia
  15. Micale L, Fusco C, Augello B, Napolitano LM, Dermitzakis ET, Meroni G, Merla G, Reymond A; ''Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.''; Eur J Hum Genet, 2008 PubMed Europe PMC Scholia
  16. Jarczowski F, Jahreis G, Erdmann F, Schierhorn A, Fischer G, Edlich F; ''FKBP36 is an inherent multifunctional glyceraldehyde-3-phosphate dehydrogenase inhibitor.''; J Biol Chem, 2009 PubMed Europe PMC Scholia
  17. Rodríguez F, Zanetti MN, Mayorga LS, Tomes CN; ''Munc18-1 controls SNARE protein complex assembly during human sperm acrosomal exocytosis.''; J Biol Chem, 2012 PubMed Europe PMC Scholia
  18. Bodoor K, Shaikh S, Enarson P, Chowdhury S, Salina D, Raharjo WH, Burke B; ''Function and assembly of nuclear pore complex proteins.''; Biochem Cell Biol, 1999 PubMed Europe PMC Scholia
  19. Janin M, Ortiz-Barahona V, de Moura MC, Martínez-Cardús A, Llinàs-Arias P, Soler M, Nachmani D, Pelletier J, Schumann U, Calleja-Cervantes ME, Moran S, Guil S, Bueno-Costa A, Piñeyro D, Perez-Salvia M, Rosselló-Tortella M, Piqué L, Bech-Serra JJ, De La Torre C, Vidal A, Martínez-Iniesta M, Martín-Tejera JF, Villanueva A, Arias A, Cuartas I, Aransay AM, La Madrid AM, Carcaboso AM, Santa-Maria V, Mora J, Fernandez AF, Fraga MF, Aldecoa I, Pedrosa L, Graus F, Vidal N, Martínez-Soler F, Tortosa A, Carrato C, Balañá C, Boudreau MW, Hergenrother PJ, Kötter P, Entian KD, Hench J, Frank S, Mansouri S, Zadeh G, Dans PD, Orozco M, Thomas G, Blanco S, Seoane J, Preiss T, Pandolfi PP, Esteller M; ''Epigenetic loss of RNA-methyltransferase NSUN5 in glioma targets ribosomes to drive a stress adaptive translational program.''; Acta Neuropathol, 2019 PubMed Europe PMC Scholia
  20. Harris HJ, Davis C, Mullins JG, Hu K, Goodall M, Farquhar MJ, Mee CJ, McCaffrey K, Young S, Drummer H, Balfe P, McKeating JA; ''Claudin association with CD81 defines hepatitis C virus entry.''; J Biol Chem, 2010 PubMed Europe PMC Scholia
  21. Uehara T, Kage-Nakadai E, Yoshina S, Imae R, Mitani S; ''The Tumor Suppressor BCL7B Functions in the Wnt Signaling Pathway.''; PLoS Genet, 2015 PubMed Europe PMC Scholia
  22. El-Hallous E, Sasaki T, Hubmacher D, Getie M, Tiedemann K, Brinckmann J, Bätge B, Davis EC, Reinhardt DP; ''Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin.''; J Biol Chem, 2007 PubMed Europe PMC Scholia
  23. Xiao A, Li H, Shechter D, Ahn SH, Fabrizio LA, Erdjument-Bromage H, Ishibe-Murakami S, Wang B, Tempst P, Hofmann K, Patel DJ, Elledge SJ, Allis CD; ''WSTF regulates the H2A.X DNA damage response via a novel tyrosine kinase activity.''; Nature, 2009 PubMed Europe PMC Scholia
  24. Iizuka K, Bruick RK, Liang G, Horton JD, Uyeda K; ''Deficiency of carbohydrate response element-binding protein (ChREBP) reduces lipogenesis as well as glycolysis.''; Proc Natl Acad Sci U S A, 2004 PubMed Europe PMC Scholia
  25. Fredericks WJ, McGarvey T, Wang H, Zheng Y, Fredericks NJ, Yin H, Wang LP, Hsiao W, Lee R, Weiss JS, Nickerson ML, Kruth HS, Rauscher FJ 3rd, Malkowicz SB; ''''; , PubMed Europe PMC Scholia
  26. Fusco C, Mandriani B, Di Rienzo M, Micale L, Malerba N, Cocciadiferro D, Sjøttem E, Augello B, Squeo GM, Pellico MT, Jain A, Johansen T, Fimia GM, Merla G; ''TRIM50 regulates Beclin 1 proautophagic activity.''; Biochim Biophys Acta Mol Cell Res, 2018 PubMed Europe PMC Scholia
  27. Foletta VC, Lim MA, Soosairajah J, Kelly AP, Stanley EG, Shannon M, He W, Das S, Massague J, Bernard O; ''Direct signaling by the BMP type II receptor via the cytoskeletal regulator LIMK1.''; J Cell Biol, 2003 PubMed Europe PMC Scholia
  28. Ma L, Robinson LN, Towle HC; ''ChREBP*Mlx is the principal mediator of glucose-induced gene expression in the liver.''; J Biol Chem, 2006 PubMed Europe PMC Scholia
  29. Tsukumo Y, Tsukahara S, Furuno A, Iemura S, Natsume T, Tomida A; ''TBL2 Associates With ATF4 mRNA Via Its WD40 Domain and Regulates Its Translation During ER Stress.''; J Cell Biochem, 2016 PubMed Europe PMC Scholia
  30. Rex EB, Shukla N, Gu S, Bredt D, DiSepio D; ''A Genome-Wide Arrayed cDNA Screen to Identify Functional Modulators of α7 Nicotinic Acetylcholine Receptors.''; SLAS Discov, 2017 PubMed Europe PMC Scholia
  31. Wang JY, Frenzel KE, Wen D, Falls DL; ''Transmembrane neuregulins interact with LIM kinase 1, a cytoplasmic protein kinase implicated in development of visuospatial cognition.''; J Biol Chem, 1998 PubMed Europe PMC Scholia
  32. Xu X, So JS, Park JG, Lee AH; ''Transcriptional control of hepatic lipid metabolism by SREBP and ChREBP.''; Semin Liver Dis, 2013 PubMed Europe PMC Scholia
  33. Yokoo T, Toyoshima H, Miura M, Wang Y, Iida KT, Suzuki H, Sone H, Shimano H, Gotoda T, Nishimori S, Tanaka K, Yamada N; ''p57Kip2 regulates actin dynamics by binding and translocating LIM-kinase 1 to the nucleus.''; J Biol Chem, 2003 PubMed Europe PMC Scholia
  34. Chailangkarn T, Trujillo CA, Freitas BC, Hrvoj-Mihic B, Herai RH, Yu DX, Brown TT, Marchetto MC, Bardy C, McHenry L, Stefanacci L, Järvinen A, Searcy YM, DeWitt M, Wong W, Lai P, Ard MC, Hanson KL, Romero S, Jacobs B, Dale AM, Dai L, Korenberg JR, Gage FH, Bellugi U, Halgren E, Semendeferi K, Muotri AR; ''A human neurodevelopmental model for Williams syndrome.''; Nature, 2016 PubMed Europe PMC Scholia
  35. Fusco C, Micale L, Augello B, Mandriani B, Pellico MT, De Nittis P, Calcagnì A, Monti M, Cozzolino F, Pucci P, Merla G; ''HDAC6 mediates the acetylation of TRIM50.''; Cell Signal, 2014 PubMed Europe PMC Scholia
  36. Zorbas C, Nicolas E, Wacheul L, Huvelle E, Heurgué-Hamard V, Lafontaine DL; ''The human 18S rRNA base methyltransferases DIMT1L and WBSCR22-TRMT112 but not rRNA modification are required for ribosome biogenesis.''; Mol Biol Cell, 2015 PubMed Europe PMC Scholia
  37. Hurley JH, Hanson PI; ''Membrane budding and scission by the ESCRT machinery: it's all in the neck.''; Nat Rev Mol Cell Biol, 2010 PubMed Europe PMC Scholia
  38. Jangani M, Poolman TM, Matthews L, Yang N, Farrow SN, Berry A, Hanley N, Williamson AJ, Whetton AD, Donn R, Ray DW; ''The methyltransferase WBSCR22/Merm1 enhances glucocorticoid receptor function and is regulated in lung inflammation and cancer.''; J Biol Chem, 2014 PubMed Europe PMC Scholia
  39. Cavellán E, Asp P, Percipalle P, Farrants AK; ''The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription.''; J Biol Chem, 2006 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
113696view14:49, 16 November 2020FehrhartCorrected typo
112919view10:08, 20 October 2020Fehrhartconverted legend to graphical line
112279view08:19, 9 October 2020EgonwReplaced secondary ChEBI identifiers with primary identifiers.
112266view14:07, 8 October 2020Fehrhartfirst draft finished
112265view13:38, 8 October 2020Fehrhartwork in progress
112264view12:52, 8 October 2020Fehrhartwork in progress
112263view12:35, 8 October 2020Fehrhartwork in progress
112222view16:22, 1 October 2020Fehrhartwork in progress
112221view15:24, 1 October 2020Fehrhartwork in progress
112193view12:42, 1 October 2020Fehrhartwork in progress
112189view11:54, 1 October 2020Fehrhartwork in progress
112049view14:37, 17 September 2020FehrhartModified description
112048view14:36, 17 September 2020FehrhartModified title
111503view07:11, 21 August 2020Fehrhartwork in progress
111502view07:03, 21 August 2020Fehrhartwork in progress
111501view13:58, 20 August 2020Fehrhartwork in progress
111356view16:23, 31 July 2020EgonwReplaced a secondary ChEBI identifier with a primary one.
111314view08:21, 28 July 2020Fehrhartwork in progress
111313view08:10, 28 July 2020Fehrhartwork in progress
111312view06:28, 28 July 2020Fehrhartwork in progress
111130view13:09, 16 July 2020FehrhartSPDYE11
111129view12:40, 16 July 2020Fehrhartupdate on TRIM50
111018view14:19, 30 June 2020Fehrhart
110999view11:33, 26 June 2020EgonwReplaced a secondary ChEBI identifier with a primary one
110973view13:33, 25 June 2020FehrhartPOM121
110972view07:29, 25 June 2020Fehrhartwork in progress
110968view14:09, 24 June 2020FehrhartOntology Term : 'genetic disease' added !
110967view14:09, 24 June 2020FehrhartOntology Term : 'Williams-Beuren syndrome' added !
110966view14:09, 24 June 2020FehrhartOntology Term : 'disease pathway' added !
110965view13:52, 24 June 2020FehrhartModified description
110964view13:51, 24 June 2020FehrhartModified title
110906view13:22, 19 June 2020Fehrhartwork in progress
110901view18:08, 18 June 2020FehrhartModified description
110900view18:05, 18 June 2020FehrhartNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
4-demethylwyosine 5'- monophosphate(1−) residueMetabolite64315 (ChEBI)
5'-deoxyadenosineMetaboliteCHEBI:17319 (ChEBI)
5-methylcytidine 5'-monophosphate(1−) residueMetabolite74483 (ChEBI)
ABHD11-AS1GeneProductENSG00000225969 (Ensembl)
ABHD11GeneProductENSG00000106077 (Ensembl)
BAZ1BGeneProductENSG00000009954 (Ensembl)
BCL7BGeneProductENSG00000106635 (Ensembl)
BECN1GeneProductENSG00000126581 (Ensembl)
BUD23GeneProductENSG00000071462 (Ensembl)
CHRNA7GeneProductENSG00000175344 (Ensembl)
  • alpha-7 nicotinic receptor
  • α7nAChR
CLDN3GeneProductENSG00000165215 (Ensembl)
CLDN4GeneProductENSG00000189143 (Ensembl)
CLTCGeneProductENSG00000141367 (Ensembl)
CO2MetaboliteCHEBI:16526 (ChEBI)
DNAJC30GeneProductENSG00000176410 (Ensembl)
ELN-AS1GeneProductENSG00000232415 (Ensembl)
ELNGeneProductENSG00000049540 (Ensembl)
FK506MetaboliteCHEBI:61049 (ChEBI)
FKBP6GeneProductENSG00000077800 (Ensembl)
FZD9GeneProductENSG00000188763 (Ensembl)
GAPDHGeneProductENSG00000111640 (Ensembl)
GTF2IP4GeneProductENSG00000233369 (Ensembl)
GTF2IRD2P1GeneProductENSG00000214544 (Ensembl)
H2OMetaboliteCHEBI:15377 (ChEBI)
HDAC6GeneProductENSG00000094631 (Ensembl)
HSPA2GeneProductENSG00000126803 (Ensembl)
L-methionine zwitterionMetabolite57844 (ChEBI)
LIMK1GeneProductENSG00000106683 (Ensembl)
METTL27GeneProductENSG00000165171 (Ensembl)
MIR4284GeneProductENSG00000265724 (Ensembl)
MLXIPLGeneProductENSG00000009950 (Ensembl)
N1-methylguanosine

5'-monophosphate(1−)

residue
Metabolite73542 (ChEBI)
NCF1BGeneProductENSG00000182487 (Ensembl)
NSUN5GeneProductENSG00000130305 (Ensembl)
NSUN5P2GeneProductENSG00000106133 (Ensembl)
NUP62GeneProductENSG00000213024 (Ensembl)
Nuclear pore complexComplexCPX-873 (EMBL) Complex Portal
PHBP5GeneProductENSG00000233523 (Ensembl)
PMS2P6GeneProductENSG00000174384 (Ensembl)
PMS2P7GeneProductENSG00000229018 (Ensembl)
POM121BGeneProductENSG00000205578 (Ensembl)
POM121GeneProductENSG00000196313 (Ensembl)
RN7SL265PGeneProductENSG00000241709 (Ensembl)
RN7SL377PGeneProductENSG00000266569 (Ensembl)
RN7SL625PGeneProductENSG00000274656 (Ensembl)
RNU6-1080PGeneProductENSG00000206709 (Ensembl)
RNU6-1198PGeneProductENSG00000252713 (Ensembl)
S-adenosyl-L-homocysteine zwitterionMetabolite57856 (ChEBI)
S-adenosyl-L-methionine zwitterionMetabolite59789 (ChEBI)
S-adenosyl-L-methionine zwitterionMetabolite59789 (ChEBI)
SBDSP1GeneProductENSG00000225648 (Ensembl)
SPDYE10PGeneProductENSG00000274570 (Ensembl)
SPDYE11GeneProductENSG00000286228 (Ensembl)
SPDYE7PGeneProductENSG00000179994 (Ensembl)
SPDYE8GeneProductENSG00000273520 (Ensembl)
SPDYE9GeneProductENSG00000262461 (Ensembl)
SQSTM1GeneProductENSG00000161011 (Ensembl)
STAG3L3GeneProductENSG00000174353 (Ensembl)
STX1AGeneProductENSG00000106089 (Ensembl)
TBL2GeneProductENSG00000106638 (Ensembl)
TCF4GeneProductENSG00000196628 (Ensembl)
TMEM270GeneProductENSG00000175877 (Ensembl)
TRIM50GeneProductENSG00000146755 (Ensembl)
TRIM74GeneProductENSG00000155428 (Ensembl)
TYW1BGeneProductENSG00000277149 (Ensembl)
UBE2E1GeneProductENSG00000170142 (Ensembl)
UBE2E3GeneProductENSG00000170035 (Ensembl)
UBE2L6GeneProductENSG00000156587 (Ensembl)
ULK1GeneProductENSG00000177169 (Ensembl)
VPS37DGeneProductENSG00000176428 (Ensembl)
ZC3H12AGeneProductENSG00000163874 (Ensembl)
cytidine 5'-monophosphate(1−) residueMetabolite82748 (ChEBI)
pyruvateMetabolite15361 (ChEBI)
rapamycinMetaboliteCHEBI:9168 (ChEBI)
synaptonemal complexComplex

Annotated Interactions

SourceTargetTypeDatabase referenceComment
NSUN5mim-catalysis47784 (Rhea)
S-adenosyl-L-methionine zwitterionS-adenosyl-L-homocysteine zwitterionmim-conversion47784 (Rhea)
cytidine 5'-monophosphate(1−) residue5-methylcytidine 5'-monophosphate(1−) residuemim-conversion47784 (Rhea)
mim-conversion36347 (Rhea)
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