11p11.2 copy number variation syndrome (Homo sapiens)

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ArcPathVisio Brace Ellipse EndoplasmicReticulum GolgiApparatus HexagonPathVisio MimDegradation Mitochondria Octagon PentagonPathVisio Rectangle RoundedRectangle SarcoplasmicReticulum TriangleEquilateralEast TrianglePathVisio none heparan synthesis and cartilage formationunknown functionN-CAM promotertranscription regulationexact function unknownchr11:43,940,000unknown functionchr11:46,020,000ITGB2SHHMg2+CHST6O3-(poly[(1→4)-β-D-glucuronosyl-(1→4)-N-acetyl-α-D-glucosaminyl]-(1→4)-β-D-glucuronosyl-(1→3)-β-D-galactosyl-(1→3)-β-D-galactosyl-(1→4)-β-D-xylosyl)-L-serine residueHLA-DMBPRDM11GLI3ITGA6TIMP1IGSF8SPPL2CHLA-DRAHLA-DMAIZUMO1NDST1SLC35C1CD4CHST1CD63Alpha-DystroglycanHBEGFSYT13CD53SyndecanCRY2O3-(N-acetyl-α-D-glucosaminyl-poly[(1→4)-β-D-glucuronosyl-(1→4)-N-acetyl-α-D-glucosaminyl]-(1→4)-β-D-glucuronosyl-(1→3)-β-D-galactosyl-(1→3)-β-D-galactosyl-(1→4)-β-D-xylosyl)-L-serine residueALKBH3CD19Fe2+ITGA4TP53I11VANGL1C11orf96MAPK8IP1LGALS3BPCD82CD151ACCSB4GALT4B4GAT1SDCBPMS4A1TSPAN18EXT2PHF21AB3GNT7L-vinylglycineUDPITGB1TP53ITGA3UDP-N-acetyl-alpha-D-glucosamineALX4CD63formaldehydesuccinateAMP residueCO2Keratan3'-phospho-5'-adenylyl sulfateLEF1ALX4an N1-methyladenosine in mRNAO22-oxoglutarateadenosine 3',5'-bisphosphatekeratan 6'-sulfateRESTBHC complexPHF21ACLOCKBMAL1EXT1EXT2NRXN1GDP-b-L-fucose (in)GMP (out)GDP-b-L-fucose (out)GMP (in)Circadian regulationMAPK signallingC11orf94PEX16PMP34Pex3LARGE2Histone modificationsunknown functionName: 11p11.2 copy number variation syndromeOrganism: Homo sapiens


Description

The molecular pathways of genes located at the region 11p11.2. A deletion in 11p11.2 can cause the Potocki-Shaffer syndrome (MIM # 601224) which is characterised by malformations in the heart, kidney and urinary tract. The chromosomal location was taken from Kirov et al. 2014 and literature cited there (chr11:43940000-46020000, GRCh37).

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Image:Wplogo_31.pngCommunity: Rare Diseases
Image:Curated.pngApproved version

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Bibliography

View all...
  1. Shi P, Guo Y, Su Y, Zhu M, Fu Y, Chi H, Wu J, Huang J; ''SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity.''; J Immunol, 2020 PubMed Europe PMC Scholia
  2. Zhang XA, Lane WS, Charrin S, Rubinstein E, Liu L; ''EWI2/PGRL associates with the metastasis suppressor KAI1/CD82 and inhibits the migration of prostate cancer cells.''; Cancer Res, 2003 PubMed Europe PMC Scholia
  3. Nassa G, Giurato G, Salvati A, Gigantino V, Pecoraro G, Lamberti J, Rizzo F, Nyman TA, Tarallo R, Weisz A; ''The RNA-mediated estrogen receptor α interactome of hormone-dependent human breast cancer cell nuclei.''; Sci Data, 2019 PubMed Europe PMC Scholia
  4. 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
  5. Lühn K, Wild MK, Eckhardt M, Gerardy-Schahn R, Vestweber D; ''The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter.''; Nat Genet, 2001 PubMed Europe PMC Scholia
  6. Ozturk N; ''Phylogenetic and Functional Classification of the Photolyase/Cryptochrome Family.''; Photochem Photobiol, 2017 PubMed Europe PMC Scholia
  7. Zhou B, Liu L, Reddivari M, Zhang XA; ''The palmitoylation of metastasis suppressor KAI1/CD82 is important for its motility- and invasiveness-inhibitory activity.''; Cancer Res, 2004 PubMed Europe PMC Scholia
  8. Huttlin EL, Bruckner RJ, Navarrete-Perea J, Cannon JR, Baltier K, Gebreab F, Gygi MP, Thornock A, Zarraga G, Tam S, Szpyt J, Gassaway BM, Panov A, Parzen H, Fu S, Golbazi A, Maenpaa E, Stricker K, Guha Thakurta S, Zhang T, Rad R, Pan J, Nusinow DP, Paulo JA, Schweppe DK, Vaites LP, Harper JW, Gygi SP; ''Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.''; Cell, 2021 PubMed Europe PMC Scholia
  9. Vinayagam A, Stelzl U, Foulle R, Plassmann S, Zenkner M, Timm J, Assmus HE, Andrade-Navarro MA, Wanker EE; ''A directed protein interaction network for investigating intracellularsignal transduction.''; Sci Signal, 2011 PubMed Europe PMC Scholia
  10. Nakamura K, Saredi G, Becker JR, Foster BM, Nguyen NV, Beyer TE, Cesa LC, Faull PA, Lukauskas S, Frimurer T, Chapman JR, Bartke T, Groth A; ''H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids.''; Nat Cell Biol, 2019 PubMed Europe PMC Scholia
  11. Tamaki T, Kamatsuka K, Sato T, Morooka S, Otsuka K, Hattori M, Sugiyama T; ''''; , PubMed Europe PMC Scholia
  12. Shi YJ, Matson C, Lan F, Iwase S, Baba T, Shi Y; ''Regulation of LSD1 histone demethylase activity by its associated factors.''; Mol Cell, 2005 PubMed Europe PMC Scholia
  13. Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ; ''PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis.''; J Cell Biol, 2000 PubMed Europe PMC Scholia
  14. Dominissini D, Nachtergaele S, Moshitch-Moshkovitz S, Peer E, Kol N, Ben-Haim MS, Dai Q, Di Segni A, Salmon-Divon M, Clark WC, Zheng G, Pan T, Solomon O, Eyal E, Hershkovitz V, Han D, Doré LC, Amariglio N, Rechavi G, He C; ''The dynamic N(1)-methyladenosine methylome in eukaryotic messenger RNA.''; Nature, 2016 PubMed Europe PMC Scholia
  15. Jouannet S, Saint-Pol J, Fernandez L, Nguyen V, Charrin S, Boucheix C, Brou C, Milhiet PE, Rubinstein E; ''TspanC8 tetraspanins differentially regulate the cleavage of ADAM10 substrates, Notch activation and ADAM10 membrane compartmentalization.''; Cell Mol Life Sci, 2016 PubMed Europe PMC Scholia
  16. Whitmarsh AJ, Kuan CY, Kennedy NJ, Kelkar N, Haydar TF, Mordes JP, Appel M, Rossini AA, Jones SN, Flavell RA, Rakic P, Davis RJ; ''Requirement of the JIP1 scaffold protein for stress-induced JNK activation.''; Genes Dev, 2001 PubMed Europe PMC Scholia
  17. Shibagaki N, Hanada Ki, Yamashita H, Shimada S, Hamada H; ''Overexpression of CD82 on human T cells enhances LFA-1 / ICAM-1-mediated cell-cell adhesion: functional association between CD82 and LFA-1 in T cell activation.''; Eur J Immunol, 1999 PubMed Europe PMC Scholia
  18. Griffin EA Jr, Staknis D, Weitz CJ; ''Light-independent role of CRY1 and CRY2 in the mammalian circadian clock.''; Science, 1999 PubMed Europe PMC Scholia
  19. Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D; ''Large-scale mapping of human protein-protein interactions by mass spectrometry.''; Mol Syst Biol, 2007 PubMed Europe PMC Scholia
  20. Kumar R, González-Prieto R, Xiao Z, Verlaan-de Vries M, Vertegaal ACO; ''The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery.''; Nat Commun, 2017 PubMed Europe PMC Scholia
  21. Horváth G, Serru V, Clay D, Billard M, Boucheix C, Rubinstein E; ''CD19 is linked to the integrin-associated tetraspans CD9, CD81, and CD82.''; J Biol Chem, 1998 PubMed Europe PMC Scholia
  22. Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K, Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G, Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP, Harper JW; ''Architecture of the human interactome defines protein communities and disease networks.''; Nature, 2017 PubMed Europe PMC Scholia
  23. Fukuta M, Inazawa J, Torii T, Tsuzuki K, Shimada E, Habuchi O; ''Molecular cloning and characterization of human keratan sulfate Gal-6-sulfotransferase.''; J Biol Chem, 1997 PubMed Europe PMC Scholia
  24. Zhang J, Wu T, Zhan S, Qiao N, Zhang X, Zhu Y, Yang N, Sun Y, Zhang XA, Bleich D, Han X; ''TIMP-1 and CD82, a promising combined evaluation marker for PDAC.''; Oncotarget, 2017 PubMed Europe PMC Scholia
  25. Kitayama K, Hayashida Y, Nishida K, Akama TO; ''Enzymes responsible for synthesis of corneal keratan sulfate glycosaminoglycans.''; J Biol Chem, 2007 PubMed Europe PMC Scholia
  26. Baietti MF, Zhang Z, Mortier E, Melchior A, Degeest G, Geeraerts A, Ivarsson Y, Depoortere F, Coomans C, Vermeiren E, Zimmermann P, David G; ''Syndecan-syntenin-ALIX regulates the biogenesis of exosomes.''; Nat Cell Biol, 2012 PubMed Europe PMC Scholia
  27. Torii T, Fukuta M, Habuchi O; ''Sulfation of sialyl N-acetyllactosamine oligosaccharides and fetuin oligosaccharides by keratan sulfate Gal-6-sulfotransferase.''; Glycobiology, 2000 PubMed Europe PMC Scholia
  28. Fei T, Chen Y, Xiao T, Li W, Cato L, Zhang P, Cotter MB, Bowden M, Lis RT, Zhao SG, Wu Q, Feng FY, Loda M, He HH, Liu XS, Brown M; ''Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing.''; Proc Natl Acad Sci U S A, 2017 PubMed Europe PMC Scholia
  29. Contreras W, Wiesehöfer C, Schreier D, Leinung N, Peche P, Wennemuth G, Gentzel M, Schröder B, Mentrup T; ''C11orf94/Frey is a key regulator for male fertility by controlling Izumo1 complex assembly.''; Sci Adv, 2022 PubMed Europe PMC Scholia
  30. Sokolina K, Kittanakom S, Snider J, Kotlyar M, Maurice P, Gandía J, Benleulmi-Chaachoua A, Tadagaki K, Oishi A, Wong V, Malty RH, Deineko V, Aoki H, Amin S, Yao Z, Morató X, Otasek D, Kobayashi H, Menendez J, Auerbach D, Angers S, Pržulj N, Bouvier M, Babu M, Ciruela F, Jockers R, Jurisica I, Stagljar I; ''Systematic protein-protein interaction mapping for clinically relevant human GPCRs.''; Mol Syst Biol, 2017 PubMed Europe PMC Scholia
  31. Mashimo T, Watabe M, Hirota S, Hosobe S, Miura K, Tegtmeyer PJ, Rinker-Shaeffer CW, Watabe K; ''The expression of the KAI1 gene, a tumor metastasis suppressor, is directly activated by p53.''; Proc Natl Acad Sci U S A, 1998 PubMed Europe PMC Scholia
  32. Cho NH, Cheveralls KC, Brunner AD, Kim K, Michaelis AC, Raghavan P, Kobayashi H, Savy L, Li JY, Canaj H, Kim JYS, Stewart EM, Gnann C, McCarthy F, Cabrera JP, Brunetti RM, Chhun BB, Dingle G, Hein MY, Huang B, Mehta SB, Weissman JS, Gómez-Sjöberg R, Itzhak DN, Royer LA, Mann M, Leonetti MD; ''OpenCell: Endogenous tagging for the cartography of human cellular organization.''; Science, 2022 PubMed Europe PMC Scholia
  33. Wang P, Yan F, Li Z, Yu Y, Parnell SE, Xiong Y; ''Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development.''; J Clin Invest, 2019 PubMed Europe PMC Scholia
  34. Brockington M, Torelli S, Prandini P, Boito C, Dolatshad NF, Longman C, Brown SC, Muntoni F; ''Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.''; Hum Mol Genet, 2005 PubMed Europe PMC Scholia
  35. Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S; ''The DNA sequence and analysis of human chromosome 6.''; Nature, 2003 PubMed Europe PMC Scholia
  36. Yang H, Zhu J, Guo H, Tang A, Chen S, Zhang D, Yuan L, Liu G; ''Molecular cloning, characterization, and functional analysis of the uncharacterized C11orf96 gene.''; BMC Vet Res, 2022 PubMed Europe PMC Scholia
  37. Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE; ''A human protein-protein interaction network: a resource for annotating the proteome.''; Cell, 2005 PubMed Europe PMC Scholia
  38. Lee JH, Park SR, Chay KO, Seo YW, Kook H, Ahn KY, Kim YJ, Kim KK; ''KAI1 COOH-terminal interacting tetraspanin (KITENIN), a member of the tetraspanin family, interacts with KAI1, a tumor metastasis suppressor, and enhances metastasis of cancer.''; Cancer Res, 2004 PubMed Europe PMC Scholia
  39. Bao X, Kobayashi M, Hatakeyama S, Angata K, Gullberg D, Nakayama J, Fukuda MN, Fukuda M; ''Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase.''; Proc Natl Acad Sci U S A, 2009 PubMed Europe PMC Scholia
  40. Gupta GD, Coyaud É, Gonçalves J, Mojarad BA, Liu Y, Wu Q, Gheiratmand L, Comartin D, Tkach JM, Cheung SW, Bashkurov M, Hasegan M, Knight JD, Lin ZY, Schueler M, Hildebrandt F, Moffat J, Gingras AC, Raught B, Pelletier L; ''A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.''; Cell, 2015 PubMed Europe PMC Scholia
  41. Yue Y, Liu J, Cui X, Cao J, Luo G, Zhang Z, Cheng T, Gao M, Shu X, Ma H, Wang F, Wang X, Shen B, Wang Y, Feng X, He C; ''VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation.''; Cell Discov, 2018 PubMed Europe PMC Scholia
  42. Wang J, Huo K, Ma L, Tang L, Li D, Huang X, Yuan Y, Li C, Wang W, Guan W, Chen H, Jin C, Wei J, Zhang W, Yang Y, Liu Q, Zhou Y, Zhang C, Wu Z, Xu W, Zhang Y, Liu T, Yu D, Chen L, Zhu D, Zhong X, Kang L, Gan X, Yu X, Ma Q, Yan J, Zhou L, Liu Z, Zhu Y, Zhou T, He F, Yang X; ''Toward an understanding of the protein interaction network of the human liver.''; Mol Syst Biol, 2011 PubMed Europe PMC Scholia
  43. Giurato G, Nassa G, Salvati A, Alexandrova E, Rizzo F, Nyman TA, Weisz A, Tarallo R; ''Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome inhuman breast cancer cells.''; Sci Data, 2018 PubMed Europe PMC Scholia
  44. Van Quickelberghe E, De Sutter D, van Loo G, Eyckerman S, Gevaert K; ''A protein-protein interaction map of the TNF-induced NF-κB signal transduction pathway.''; Sci Data, 2018 PubMed Europe PMC Scholia
  45. Rolland T, Taşan M, Charloteaux B, Pevzner SJ, Zhong Q, Sahni N, Yi S, Lemmens I, Fontanillo C, Mosca R, Kamburov A, Ghiassian SD, Yang X, Ghamsari L, Balcha D, Begg BE, Braun P, Brehme M, Broly MP, Carvunis AR, Convery-Zupan D, Corominas R, Coulombe-Huntington J, Dann E, Dreze M, Dricot A, Fan C, Franzosa E, Gebreab F, Gutierrez BJ, Hardy MF, Jin M, Kang S, Kiros R, Lin GN, Luck K, MacWilliams A, Menche J, Murray RR, Palagi A, Poulin MM, Rambout X, Rasla J, Reichert P, Romero V, Ruyssinck E, Sahalie JM, Scholz A, Shah AA, Sharma A, Shen Y, Spirohn K, Tam S, Tejeda AO, Wanamaker SA, Twizere JC, Vega K, Walsh J, Cusick ME, Xia Y, Barabási AL, Iakoucheva LM, Aloy P, De Las Rivas J, Tavernier J, Calderwood MA, Hill DE, Hao T, Roth FP, Vidal M; ''A proteome-scale map of the human interactome network.''; Cell, 2014 PubMed Europe PMC Scholia
  46. Ravasi T, Suzuki H, Cannistraci CV, Katayama S, Bajic VB, Tan K, Akalin A, Schmeier S, Kanamori-Katayama M, Bertin N, Carninci P, Daub CO, Forrest AR, Gough J, Grimmond S, Han JH, Hashimoto T, Hide W, Hofmann O, Kamburov A, Kaur M, Kawaji H, Kubosaki A, Lassmann T, van Nimwegen E, MacPherson CR, Ogawa C, Radovanovic A, Schwartz A, Teasdale RD, Tegnér J, Lenhard B, Teichmann SA, Arakawa T, Ninomiya N, Murakami K, Tagami M, Fukuda S, Imamura K, Kai C, Ishihara R, Kitazume Y, Kawai J, Hume DA, Ideker T, Hayashizaki Y; ''An atlas of combinatorial transcriptional regulation in mouse and man.''; Cell, 2010 PubMed Europe PMC Scholia
  47. Marcon E, Ni Z, Pu S, Turinsky AL, Trimble SS, Olsen JB, Silverman-Gavrila R, Silverman-Gavrila L, Phanse S, Guo H, Zhong G, Guo X, Young P, Bailey S, Roudeva D, Zhao D, Hewel J, Li J, Gräslund S, Paduch M, Kossiakoff AA, Lupien M, Emili A, Wodak SJ, Greenblatt J; ''Human-chromatin-related protein interactions identify a demethylase complex required for chromosome segregation.''; Cell Rep, 2014 PubMed Europe PMC Scholia
  48. Li X, Wang W, Wang J, Malovannaya A, Xi Y, Li W, Guerra R, Hawke DH, Qin J, Chen J; ''Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes.''; Mol Syst Biol, 2015 PubMed Europe PMC Scholia
  49. Chen TC, Lin KT, Chen CH, Lee SA, Lee PY, Liu YW, Kuo YL, Wang FS, Lai JM, Huang CY; ''Using an in situ proximity ligation assay to systematically profile endogenous protein-protein interactions in a pathway network.''; J Proteome Res, 2014 PubMed Europe PMC Scholia
  50. Mannion BA, Berditchevski F, Kraeft SK, Chen LB, Hemler ME; ''Transmembrane-4 superfamily proteins CD81 (TAPA-1), CD82, CD63, and CD53 specifically associated with integrin alpha 4 beta 1 (CD49d/CD29).''; J Immunol, 1996 PubMed Europe PMC Scholia
  51. Nakamura K, Mitamura T, Takahashi T, Kobayashi T, Mekada E; ''Importance of the major extracellular domain of CD9 and the epidermal growth factor (EGF)-like domain of heparin-binding EGF-like growth factor for up-regulation of binding and activity.''; J Biol Chem, 2000 PubMed Europe PMC Scholia
  52. Lee JH, Bae JA, Seo YW, Kho DH, Sun EG, Lee SE, Cho SH, Joo YE, Ahn KY, Chung IJ, Kim KK; ''Glycoprotein 90K, downregulated in advanced colorectal cancer tissues, interacts with CD9/CD82 and suppresses the Wnt/beta-catenin signal via ISGylation of beta-catenin.''; Gut, 2010 PubMed Europe PMC Scholia
  53. Presto J, Thuveson M, Carlsson P, Busse M, Wilén M, Eriksson I, Kusche-Gullberg M, Kjellén L; ''Heparan sulfate biosynthesis enzymes EXT1 and EXT2 affect NDST1 expression and heparan sulfate sulfation.''; Proc Natl Acad Sci U S A, 2008 PubMed Europe PMC Scholia
  54. Boras K, Hamel PA; ''Alx4 binding to LEF-1 regulates N-CAM promoter activity.''; J Biol Chem, 2002 PubMed Europe PMC Scholia
  55. Imai T, Kakizaki M, Nishimura M, Yoshie O; ''Molecular analyses of the association of CD4 with two members of the transmembrane 4 superfamily, CD81 and CD82.''; J Immunol, 1995 PubMed Europe PMC Scholia
  56. Nichols TC, Guthridge JM, Karp DR, Molina H, Fletcher DR, Holers VM; ''Gamma-glutamyl transpeptidase, an ecto-enzyme regulator of intracellular redox potential, is a component of TM4 signal transduction complexes.''; Eur J Immunol, 1998 PubMed Europe PMC Scholia
  57. Wu SF, Xia L, Shi XD, Dai YJ, Zhang WN, Zhao JM, Zhang W, Weng XQ, Lu J, Le HY, Tao SC, Zhu J, Chen Z, Wang YY, Chen S; ''RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation.''; Proc Natl Acad Sci U S A, 2020 PubMed Europe PMC Scholia
  58. Förster-Fromme K, Schneider S, Sprenger GA, Albermann C; ''Functional expression of a human GDP-L-fucose transporter in Escherichia coli.''; Biotechnol Lett, 2017 PubMed Europe PMC Scholia
  59. Niswander L; ''Interplay between the molecular signals that control vertebrate limb development.''; Int J Dev Biol, 2002 PubMed Europe PMC Scholia
  60. Szöllósi J, Horejsí V, Bene L, Angelisová P, Damjanovich S; ''''; , PubMed Europe PMC Scholia
  61. Koch KA, Capitani G, Gruetter MG, Kirsch JF; ''The human cDNA for a homologue of the plant enzyme 1-aminocyclopropane-1-carboxylate synthase encodes a protein lacking that activity.''; Gene, 2001 PubMed Europe PMC Scholia
  62. Hammond C, Denzin LK, Pan M, Griffith JM, Geuze HJ, Cresswell P; ''The tetraspan protein CD82 is a resident of MHC class II compartments where it associates with HLA-DR, -DM, and -DO molecules.''; J Immunol, 1998 PubMed Europe PMC Scholia
  63. Suter B, Fontaine JF, Yildirimman R, Raskó T, Schaefer MH, Rasche A, Porras P, Vázquez-�lvarez BM, Russ J, Rau K, Foulle R, Zenkner M, Saar K, Herwig R, Andrade-Navarro MA, Wanker EE; ''Development and application of a DNA microarray-based yeast two-hybrid system.''; Nucleic Acids Res, 2013 PubMed Europe PMC Scholia
  64. Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD, Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG, Yu H; ''Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.''; Nat Commun, 2019 PubMed Europe PMC Scholia
  65. Santoso CS, Li Z, Lal S, Yuan S, Gan KA, Agosto LM, Liu X, Pro SC, Sewell JA, Henderson A, Atianand MK, Fuxman Bass JI; ''Comprehensive mapping of the human cytokine gene regulatory network.''; Nucleic Acids Res, 2020 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
138774
Approved
view01:32, 3 May 2025Khanspersupdated node labels
134455
RARE
view00:13, 22 July 2024EweitzOntology Term : 'Potocki-Shaffer syndrome' added !
127123view14:11, 4 August 2023FehrhartModified description
127122view14:10, 4 August 2023FehrhartModified description
127121view13:59, 4 August 2023Fehrhartcorrections in progress
127120view12:29, 4 August 2023Fehrhartcorrection in progress
127119view12:10, 4 August 2023Fehrhartcorrection in progress
126436view11:00, 28 April 2023EgonwRemoved weird characters in the Ensembl ID
126179view05:44, 13 April 2023EgonwMade three pathways clickable
126150view14:04, 11 April 2023Ash iyerFixed some interactions
126110view15:19, 6 April 2023FehrhartOntology Term : 'disease pathway' added !
126101view17:23, 5 April 2023Melrose2023Highlighted the deleted regions EXT2, ALX4 and PHF21A in the CNV syndrome Potocki-Shaffer
126095view09:04, 5 April 2023Melrose2023corrected spelling of GDP-β-L-fucose
126091view22:04, 4 April 2023Melrose2023rectangle around pathway nodes
126090view21:55, 4 April 2023Melrose2023C11orf94, TCTN3 and TP53I11 - Identifier changed Ras related protein Rab-10 - Change database
126025view16:44, 28 March 2023Melrose2023Modified title
126024view16:43, 28 March 2023Melrose2023Modified title
126023view16:42, 28 March 2023Melrose2023Modified description
126022view16:40, 28 March 2023Melrose2023New pathway

External references

DataNodes

View all...
Name  ↓Type  ↓Database reference  ↓Comment  ↓
2-oxoglutarateMetabolite16810 (ChEBI)
3'-phospho-5'-adenylyl sulfateMetaboliteDB02902 (DrugBank)
ACCSGeneProductENSG00000110455 (Ensembl)
ALKBH3GeneProductENSG00000166199 (Ensembl)
ALX4GeneProductENSG00000052850 (Ensembl)
AMP residueMetabolite74411 (ChEBI)
Alpha-DystroglycanMetabolite405235951 (PubChem-compound)
B3GNT7GeneProductENSG00000156966 (Ensembl)
B4GALT4GeneProductENSG00000121578 (Ensembl)
B4GAT1GeneProductENSG00000174684 (Ensembl)
BHC complexComplex
BMAL1GeneProductO00327 (Uniprot-TrEMBL)
C11orf94GeneProductENSG00000234776 (Ensembl)
C11orf96GeneProductENSG00000187479 (Ensembl)
CD151GeneProductENSG00000177697 (Ensembl)
CD19GeneProductENSG00000177455 (Ensembl)
CD4GeneProductENSG00000010610 (Ensembl)
CD53GeneProductENSG00000143119 (Ensembl)
CD63GeneProductENSG00000135404 (Ensembl)
CD82GeneProductENSG00000085117 (Ensembl) KAI1
CHST1GeneProductENSG00000175264 (Ensembl)
CHST6GeneProductENSG00000183196 (Ensembl)
CLOCKGeneProductENSG00000134852 (Ensembl)
CO2Metabolite16526 (ChEBI)
CRY2GeneProductENSG00000121671 (Ensembl)
Circadian regulationPathwayWP410 (WikiPathways)
EXT1GeneProductENSG00000182197 (Ensembl)
EXT2GeneProductENSG00000151348 (Ensembl)
Fe2+MetaboliteCHEBI:29033 (ChEBI)
GDP-b-L-fucose (in)MetaboliteCHEBI:57273 (ChEBI)
GDP-b-L-fucose (out)MetaboliteCHEBI:57273 (ChEBI)
GLI3GeneProductENSG00000106571 (Ensembl)
GMP (in)MetaboliteCHEBI:58115 (ChEBI)
GMP (out)MetaboliteCHEBI:58115 (ChEBI)
HBEGFGeneProductENSG00000113070 (Ensembl)
HLA-DMAGeneProductENSG00000204257 (Ensembl)
HLA-DMBGeneProductENSG00000242574 (Ensembl)
HLA-DRAGeneProductENSG00000204287 (Ensembl)
Histone modificationsPathwayWP3123 (WikiPathways)
IGSF8GeneProductENSG00000162729 (Ensembl)
ITGA3GeneProductENSG00000005884 (Ensembl)
ITGA4GeneProductENSG00000115232 (Ensembl)
ITGA6GeneProductENSG00000091409 (Ensembl)
ITGB1GeneProductENSG00000150093 (Ensembl)
ITGB2GeneProductENSG00000160255 (Ensembl)
IZUMO1GeneProductENSG00000182264 (Ensembl)
KeratanMetabolite446715 (PubChem-compound)
L-vinylglycineMetabolite156126 (PubChem-compound)
LARGE2GeneProductENSG00000165905 (Ensembl) GYLTL1B
LEF1GeneProductENSG00000138795 (Ensembl)
LGALS3BPGeneProductENSG00000108679 (Ensembl)
MAPK signallingPathwayWP880 (WikiPathways)
MAPK8IP1GeneProductENSG00000121653 (Ensembl)
MS4A1GeneProductENSG00000156738 (Ensembl)
Mg2+MetaboliteCHEBI:18420 (ChEBI)
NDST1GeneProductENSG00000070614 (Ensembl)
NRXN1GeneProductENSG00000179915 (Ensembl)
O2MetaboliteCHEBI:15379 (ChEBI)
O3-(N-acetyl-α-D-glucosaminyl-poly[(1→4)-β-D-glucuronosyl-(1→4)-N-acetyl-α-D-glucosaminyl]-

(1→4)-β-D-glucuronosyl-(1→3)-β-D-galactosyl-(1→3)-β-D-galactosyl-(1→4)-β-D-xylosyl)-L-serine residue

Metabolite132416 (ChEBI)
O3-(poly[(1→4)-β-D-glucuronosyl-(1→4)-N-acetyl-α-D-glucosaminyl]-(1→4)-β-D-glucuronosyl- (1→3)-β-D-galactosyl-(1→3)-β-D-galactosyl-(1→4)-β-D-xylosyl)-L-serine residueMetabolite132415 (ChEBI)
PEX16GeneProductENSG00000121680 (Ensembl)
PHF21AGeneProductENSG00000135365 (Ensembl)
PMP34ProteinO43808 (Uniprot-TrEMBL)
PRDM11GeneProductENSG00000019485 (Ensembl)
Pex3ProteinP56589 (Uniprot-TrEMBL)
RESTGeneProductENSG00000084093 (Ensembl)
SDCBPGeneProductENSG00000137575 (Ensembl)
SHHGeneProductENSG00000164690 (Ensembl)
SLC35C1GeneProductENSG00000181830 (Ensembl)
SPPL2CGeneProductENSG00000185294 (Ensembl)
SYT13GeneProductENSG00000019505 (Ensembl)
SyndecanGeneProductPF01034 (Pfam)
TIMP1GeneProductENSG00000102265 (Ensembl)
TP53GeneProductENSG00000141510 (Ensembl)
TP53I11GeneProductENSG00000175274 (Ensembl)
TSPAN18GeneProductENSG00000157570 (Ensembl)
UDP-N-acetyl-alpha-D-glucosamineMetabolite57705 (ChEBI)
UDPMetabolite58223 (ChEBI)
VANGL1GeneProductENSG00000173218 (Ensembl)
adenosine 3',5'-bisphosphateMetabolite159296 (PubChem-compound)
an N1-methyladenosine in mRNAMetabolite74491 (ChEBI)
formaldehydeMetaboliteCHEBI:16842 (ChEBI)
keratan 6'-sulfateMetabolite18331 (ChEBI)
succinateMetaboliteCHEBI:30031 (ChEBI)

Annotated Interactions

Source  ↓Target  ↓Type  ↓Database reference  ↓Comment  ↓
O3-(poly[(1→4)-β-D-glucuronosyl-(1→4)-N-acetyl-α-D-glucosaminyl]-(1→4)-β-D-glucuronosyl- (1→3)-β-D-galactosyl-(1→3)-β-D-galactosyl-(1→4)-β-D-xylosyl)-L-serine residueO3-(N-acetyl-α-D-glucosaminyl-poly[(1→4)-β-D-glucuronosyl-(1→4)-N-acetyl-α-D-glucosaminyl]-

(1→4)-β-D-glucuronosyl-(1→3)-β-D-galactosyl-(1→3)-β-D-galactosyl-(1→4)-β-D-xylosyl)-L-serine residue

mim-conversion16213 (Rhea)
UDP-N-acetyl-alpha-D-glucosamineUDPmim-conversion16213 (Rhea)
mim-catalysis16213 (Rhea)
mim-conversion49516 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5348"
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