15q11q13 copy number variation (Homo sapiens)

From WikiPathways

Revision as of 07:38, 9 August 2023 by Egonw (Talk | contribs)
Jump to: navigation, search
4, 78191914931291122, 23541, 242015319122413, 1810, 272, 6, 16, 17, 21...25, 264cellchr15:32462776breakpoint 5darkNicotinic acteylcholine receptoropens ion channels upon bindingunknownfunctionDNA interstrand crosslink repairtranscriptionunknownfunctionchr15:30375967breakpoint 4chr15:29161368breakpoint 3STXBP1CALMNSMCE2FAN1SMC6CGNDeubiquitinationSLF2ClaudinsTJP3SERPINH1GOLGA8RFANCD2MIR211RELAGOLGA8JUBN1NSMCE1EID3ANKRD2TJP1SLF1Zn2+Ni2+HDAC1CXADROTUD7ACDC42BPBMYZAPKAT2BTRPM1GJC2SMC5-SMC6 SUMO ligase complexSIN3ATRPM3GJA1CHRNA7NSMCE3STX1BKLF13Mn2+GJD3Mg2+CCL5MITFDNMBPCREBBPRIC3GOLGA8TSPEF1OCLNNECAB3F-actinCa2+FANCIAPBA2Ba2+Na+APPENTREP2LYPD6GOLGA8QGOLGA8HNSMCE3glutamateTJP2CANXSTX1ASMC5MTMR10Acetylcholine888882, 6, 16, 17, 21...2, 6, 16, 17, 21...2, 6, 16, 17, 21...2, 6, 16, 17, 21...2, 6, 16, 17, 21...2, 6, 16, 17, 21...2, 6, 16, 17, 21...25, 26unknownfunctionunknownfunctionunknownfunctionunknownfunctionunknownfunctionTRPM1Zn2+Ni2+Mg2+Ba2+Ca2+Mn2+Na+1414


Description

Deletions or duplications of the region 15q11q13 are rare genetic copy number variations that have an increased risk of neuropsychiatric disorders. The most reported breakpoints are between chr15:29161368-30375967 (BP3-4) or chr15:29161368-32462776 (BP 3-5) (GRCh37). The chromosomal positions are taken from Kirov et al. 2014. 10.1016/j.biopsych.2013.07.022 and literature cited there.

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. Nielsen PA, Beahm DL, Giepmans BN, Baruch A, Hall JE, Kumar NM; ''Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1.''; J Biol Chem, 2002 PubMed Europe PMC Scholia
  2. Liu T, Ghosal G, Yuan J, Chen J, Huang J; ''FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair.''; Science, 2010 PubMed Europe PMC Scholia
  3. Mevissen TE, Hospenthal MK, Geurink PP, Elliott PR, Akutsu M, Arnaudo N, Ekkebus R, Kulathu Y, Wauer T, El Oualid F, Freund SM, Ovaa H, Komander D; ''OTU deubiquitinases reveal mechanisms of linkage specificity and enable ubiquitin chain restriction analysis.''; Cell, 2013 PubMed Europe PMC Scholia
  4. Lambert S, Drews A, Rizun O, Wagner TF, Lis A, Mannebach S, Plant S, Portz M, Meissner M, Philipp SE, Oberwinkler J; ''Transient receptor potential melastatin 1 (TRPM1) is an ion-conducting plasma membrane channel inhibited by zinc ions.''; J Biol Chem, 2011 PubMed Europe PMC Scholia
  5. Lansdell SJ, Gee VJ, Harkness PC, Doward AI, Baker ER, Gibb AJ, Millar NS; ''RIC-3 enhances functional expression of multiple nicotinic acetylcholine receptor subtypes in mammalian cells.''; Mol Pharmacol, 2005 PubMed Europe PMC Scholia
  6. Fanning AS, Jameson BJ, Jesaitis LA, Anderson JM; ''The tight junction protein ZO-1 establishes a link between the transmembrane protein occludin and the actin cytoskeleton.''; J Biol Chem, 1998 PubMed Europe PMC Scholia
  7. Aho S, Lupo J, Coly PA, Sabine A, Castellazzi M, Morand P, Sergeant A, Manet E, Boyer V, Gruffat H; ''Characterization of the ubinuclein protein as a new member of the nuclear and adhesion complex components (NACos).''; Biol Cell, 2009 PubMed Europe PMC Scholia
  8. Arvaniti M, Jensen MM, Soni N, Wang H, Klein AB, Thiriet N, Pinborg LH, Muldoon PP, Wienecke J, Imad Damaj M, Kohlmeier KA, Gondré-Lewis MC, Mikkelsen JD, Thomsen MS; ''Functional interaction between Lypd6 and nicotinic acetylcholine receptors.''; J Neurochem, 2016 PubMed Europe PMC Scholia
  9. Oancea E, Vriens J, Brauchi S, Jun J, Splawski I, Clapham DE; ''TRPM1 forms ion channels associated with melanin content in melanocytes.''; Sci Signal, 2009 PubMed Europe PMC Scholia
  10. D'Atri F, Nadalutti F, Citi S; ''Evidence for a functional interaction between cingulin and ZO-1 in cultured cells.''; J Biol Chem, 2002 PubMed Europe PMC Scholia
  11. Li X, Ionescu AV, Lynn BD, Lu S, Kamasawa N, Morita M, Davidson KG, Yasumura T, Rash JE, Nagy JI; ''Connexin47, connexin29 and connexin32 co-expression in oligodendrocytes and Cx47 association with zonula occludens-1 (ZO-1) in mouse brain.''; Neuroscience, 2004 PubMed Europe PMC Scholia
  12. Belgrano A, Rakicevic L, Mittempergher L, Campanaro S, Martinelli VC, Mouly V, Valle G, Kojic S, Faulkner G; ''Multi-tasking role of the mechanosensing protein Ankrd2 in the signaling network of striated muscle.''; PLoS One, 2011 PubMed Europe PMC Scholia
  13. Williams ME, Burton B, Urrutia A, Shcherbatko A, Chavez-Noriega LE, Cohen CJ, Aiyar J; ''Ric-3 promotes functional expression of the nicotinic acetylcholine receptor alpha7 subunit in mammalian cells.''; J Biol Chem, 2005 PubMed Europe PMC Scholia
  14. Bremm A, Freund SM, Komander D; ''Lys11-linked ubiquitin chains adopt compact conformations and are preferentially hydrolyzed by the deubiquitinase Cezanne.''; Nat Struct Mol Biol, 2010 PubMed Europe PMC Scholia
  15. Cohen CJ, Shieh JT, Pickles RJ, Okegawa T, Hsieh JT, Bergelson JM; ''The coxsackievirus and adenovirus receptor is a transmembrane component of the tight junction.''; Proc Natl Acad Sci U S A, 2001 PubMed Europe PMC Scholia
  16. Song CZ, Keller K, Murata K, Asano H, Stamatoyannopoulos G; ''Functional interaction between coactivators CBP/p300, PCAF, and transcription factor FKLF2.''; J Biol Chem, 2002 PubMed Europe PMC Scholia
  17. MacKay C, Déclais AC, Lundin C, Agostinho A, Deans AJ, MacArtney TJ, Hofmann K, Gartner A, West SC, Helleday T, Lilley DM, Rouse J; ''Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2.''; Cell, 2010 PubMed Europe PMC Scholia
  18. Seeger TS, Frank D, Rohr C, Will R, Just S, Grund C, Lyon R, Luedde M, Koegl M, Sheikh F, Rottbauer W, Franke WW, Katus HA, Olson EN, Frey N; ''Myozap, a novel intercalated disc protein, activates serum response factor-dependent signaling and is required to maintain cardiac function in vivo.''; Circ Res, 2010 PubMed Europe PMC Scholia
  19. Wu J, Yang Y, Zhang J, Ji P, Du W, Jiang P, Xie D, Huang H, Wu M, Zhang G, Shi Y; ''Domain-swapped dimerization of the second PDZ domain of ZO2 may provide a structural basis for the polymerization of claudins.''; J Biol Chem, 2007 PubMed Europe PMC Scholia
  20. Chen J, Pan L, Wei Z, Zhao Y, Zhang M; ''Domain-swapped dimerization of ZO-1 PDZ2 generates specific and regulatory connexin43-binding sites.''; EMBO J, 2008 PubMed Europe PMC Scholia
  21. van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G; ''Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.''; J Clin Invest, 2016 PubMed Europe PMC Scholia
  22. Doyle JM, Gao J, Wang J, Yang M, Potts PR; ''MAGE-RING protein complexes comprise a family of E3 ubiquitin ligases.''; Mol Cell, 2010 PubMed Europe PMC Scholia
  23. Otani T, Ichii T, Aono S, Takeichi M; ''Cdc42 GEF Tuba regulates the junctional configuration of simple epithelial cells.''; J Cell Biol, 2006 PubMed Europe PMC Scholia
  24. Lee DS, Tomita S, Kirino Y, Suzuki T; ''Regulation of X11L-dependent amyloid precursor protein metabolism by XB51, a novel X11L-binding protein.''; J Biol Chem, 2000 PubMed Europe PMC Scholia
  25. Miller AJ, Du J, Rowan S, Hershey CL, Widlund HR, Fisher DE; ''Transcriptional regulation of the melanoma prognostic marker melastatin (TRPM1) by MITF in melanocytes and melanoma.''; Cancer Res, 2004 PubMed Europe PMC Scholia
  26. Kweon HJ, Gu S, Witham E, Dhara M, Yu H, Mandon ED, Jawhari A, Bredt DS; ''NACHO Engages N-Glycosylation ER Chaperone Pathways for α7 Nicotinic Receptor Assembly.''; Cell Rep, 2020 PubMed Europe PMC Scholia
  27. Tapia R, Perez-Yepez EA, Carlino MJ, Karandikar UC, Kralicek SE, Estes MK, Hecht GA; ''Sperm Flagellar 1 Binds Actin in Intestinal Epithelial Cells and Contributes to Formation of Filopodia and Lamellipodia.''; Gastroenterology, 2019 PubMed Europe PMC Scholia
  28. Furuse M, Itoh M, Hirase T, Nagafuchi A, Yonemura S, Tsukita S; ''Direct association of occludin with ZO-1 and its possible involvement in the localization of occludin at tight junctions.''; J Cell Biol, 1994 PubMed Europe PMC Scholia
  29. Kaczynski J, Zhang JS, Ellenrieder V, Conley A, Duenes T, Kester H, van Der Burg B, Urrutia R; ''The Sp1-like protein BTEB3 inhibits transcription via the basic transcription element box by interacting with mSin3A and HDAC-1 co-repressors and competing with Sp1.''; J Biol Chem, 2001 PubMed Europe PMC Scholia
  30. Huo L, Wen W, Wang R, Kam C, Xia J, Feng W, Zhang M; ''Cdc42-dependent formation of the ZO-1/MRCKβ complex at the leading edge controls cell migration.''; EMBO J, 2011 PubMed Europe PMC Scholia
  31. Lye MF, Fanning AS, Su Y, Anderson JM, Lavie A; ''Insights into regulated ligand binding sites from the structure of ZO-1 Src homology 3-guanylate kinase module.''; J Biol Chem, 2010 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
134534view17:09, 22 July 2024EgonwAdded a missing datasource
134422view23:14, 21 July 2024EweitzStandardize case
129010view12:43, 4 March 2024PklemmerRemoved linebreak in SMC5-SMC6 SUMO ligase complex label
127173view07:38, 9 August 2023EgonwFixed a Ensembl identifier
127163view08:31, 8 August 2023FehrhartOntology Term : 'chromosomal duplication syndrome' added !
127162view08:31, 8 August 2023FehrhartOntology Term : 'chromosomal deletion syndrome' added !
127161view08:30, 8 August 2023FehrhartOntology Term : 'disease pathway' added !
127160view08:28, 8 August 2023FehrhartModified description
127159view08:21, 8 August 2023FehrhartNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ANKRD2GeneProductENSG00000165887 (Ensembl)
APBA2GeneProductENSG00000034053 (Ensembl)
APPGeneProductENSG00000142192 (Ensembl)
AcetylcholineMetaboliteHMDB00895 (HMDB)
Ba2+MetaboliteCHEBI:37136 (ChEBI)
CALMGeneProductENSG00000198668 (Ensembl)
CANXGeneProductENSG00000127022 (Ensembl) NACHO?
CCL5GeneProductENSG00000271503 (Ensembl) RANTES
CDC42BPBGeneProductENSG00000198752 (Ensembl)
CGNGeneProductENSG00000143375 (Ensembl)
CHRNA7GeneProductENSG00000175344 (Ensembl)
CREBBPGeneProductENSG00000005339 (Ensembl)
CXADRGeneProductENSG00000154639 (Ensembl)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
ClaudinsGeneProductIPR004031 (InterPro)
DNMBPGeneProductENSG00000107554 (Ensembl)
DeubiquitinationPathwayWP4102 (WikiPathways)
EID3GeneProductQ8N140 (Uniprot-TrEMBL)
ENTREP2GeneProductENSG00000104059 (Ensembl) FAM189A1, KIAA0574
F-actinGeneProductIPR004000 (InterPro)
FAN1GeneProductENSG00000198690 (Ensembl)
FANCD2GeneProductENSG00000144554 (Ensembl)
FANCIGeneProductENSG00000140525 (Ensembl)
GJA1GeneProductENSG00000152661 (Ensembl)
GJC2GeneProductENSG00000198835 (Ensembl) GJA12
GJD3GeneProductENSG00000183153 (Ensembl)
GOLGA8HGeneProductENSG00000261794 (Ensembl)
GOLGA8JGeneProductENSG00000179938 (Ensembl)
GOLGA8QGeneProductENSG00000178115 (Ensembl)
GOLGA8RGeneProductENSG00000186399 (Ensembl)
GOLGA8TGeneProductENSG00000261247 (Ensembl)
HDAC1GeneProductENSG00000116478 (Ensembl)
KAT2BGeneProductENSG00000114166 (Ensembl) PCAF, P300/CBP-associated factor
KLF13GeneProductENSG00000169926 (Ensembl)
LYPD6GeneProductENSG00000187123 (Ensembl)
MIR211GeneProductENSG00000207702 (Ensembl)
MITFGeneProductENSG00000187098 (Ensembl)
MTMR10GeneProductENSG00000166912 (Ensembl)
MYZAPGeneProductENSG00000263155 (Ensembl)
Mg2+MetaboliteCHEBI:18420 (ChEBI)
Mn2+MetaboliteCHEBI:29035 (ChEBI)
NECAB3GeneProductENSG00000125967 (Ensembl)
NSMCE1GeneProductQ8WV22 (Uniprot-TrEMBL)
NSMCE2GeneProductQ96MF7 (Uniprot-TrEMBL)
NSMCE3GeneProductENSG00000185115 (Ensembl) NDNL2, MAGEG1
NSMCE3GeneProductQ96MG7 (Uniprot-TrEMBL)
Na+MetaboliteCHEBI:29101 (ChEBI)
Ni2+MetaboliteCHEBI:49786 (ChEBI)
OCLNGeneProductENSG00000197822 (Ensembl)
OTUD7AGeneProductENSG00000169918 (Ensembl)
RELAGeneProductENSG00000173039 (Ensembl)
RIC3GeneProductENSG00000166405 (Ensembl)
SERPINH1GeneProductENSG00000149257 (Ensembl)
SIN3AGeneProductENSG00000169375 (Ensembl)
SLF1GeneProductQ9BQI6 (Uniprot-TrEMBL)
SLF2GeneProductQ8IX21 (Uniprot-TrEMBL)
SMC5-SMC6 SUMO ligase complexComplexCPX-5992Complex portal
SMC5GeneProductQ8IY18 (Uniprot-TrEMBL)
SMC6GeneProductQ96SB8 (Uniprot-TrEMBL)
SPEF1GeneProductENSG00000101222 (Ensembl)
STX1AGeneProductENSG00000106089 (Ensembl)
STX1BGeneProductENSG00000099365 (Ensembl)
STXBP1GeneProductENSG00000136854 (Ensembl)
TJP1GeneProductENSG00000104067 (Ensembl)
TJP2GeneProductENSG00000119139 (Ensembl)
TJP3GeneProductENSG00000105289 (Ensembl)
TRPM1GeneProductENSG00000134160 (Ensembl)
TRPM3GeneProductENSG00000083067 (Ensembl)
UBN1GeneProductENSG00000118900 (Ensembl)
Zn2+MetaboliteCHEBI:27363 (ChEBI)
glutamateMetaboliteCHEBI:14321 (ChEBI)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5407"
Personal tools