16p11.2 proximal deletion syndrome (Homo sapiens)

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114, 6, 911210131251, 3117158146excitotoxic to neuronsVault formationpromotor bindingtranscriptionalregulatorChromosome 16: 29,592,751located in zymogen granule membraneinvolved in protein secretionmitosisexact function unknown but involvedin movement disorders in genetic epilepsies Lymphocyte traffickingLympthocyte polarizationChromosome 16: 30,190,593RNA geneunknown functionNR3C1Glucocorticoid receptor pathwayMAB21L4myo-inositolMVPESR1RN7SKP127cytidine 5'-monophosphate(2−)CDIPTOSPhsa-mir-3680-2EZRHIRIP3PAXIP1KMT2DCO2PARP4MAZSLC7A5P1KIF22Sodium molybdateCA5AP1KMT2CCDP-diacylglycerol(2−)PPP4Cphthalic acid1-phosphatidyl-1D-myo-inositol(1−)NAD+ biosynthesisALDOAPAGR1TMEM219CDIPTCORO1APPARGPRRT2SEZ6L2YPEL3SPNBPTF5-phospho-α-D-ribose 1-diphosphatediphosphate(3−)C16orf92H+INO80Enicotinate β-D-ribonucleotideMAPK3SMG1P2PTENGDPD3ASPHD1ZG16quinolinateMSNTBX6TAOK2TLCD3BDOC2ANeurotransmitter release cycleHistone modificationsSIAH1QPRTKCTD13pseudo gene54, 6, 9PAGR1771315


Description

16p11.2 proximal deletion syndrome is a rare genetic disorder (copy number variation) caused by a deletion in the region of chromosome 16 from 29,592,751 to 30,190,593 bp.

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Bibliography

View all...
  1. Arbogast T, Razaz P, Ellegood J, McKinstry SU, Erdin S, Currall B, Aneichyk T, Lerch JP, Qiu LR, Rodriguiz RM, Henkelman RM, Talkowski ME, Wetsel WC, Golzio C, Katsanis N; ''Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions.''; Hum Mol Genet, 2019 PubMed Europe PMC Scholia
  2. Lorain S, Quivy JP, Monier-Gavelle F, Scamps C, Lécluse Y, Almouzni G, Lipinski M; ''Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA.''; Mol Cell Biol, 1998 PubMed Europe PMC Scholia
  3. Poli J, Gasser SM, Papamichos-Chronakis M; ''The INO80 remodeller in transcription, replication and repair.''; Philos Trans R Soc Lond B Biol Sci, 2017 PubMed Europe PMC Scholia
  4. Jojima K, Edagawa M, Sawai M, Ohno Y, Kihara A; ''Biosynthesis of the anti-lipid-microdomain sphingoid base 4,14-sphingadiene by the ceramide desaturase FADS3.''; FASEB J, 2020 PubMed Europe PMC Scholia
  5. Hadweh P, Habelhah H, Kieff E, Mosialos G, Hatzivassiliou E; ''The PP4R1 subunit of protein phosphatase PP4 targets TRAF2 and TRAF6 to mediate inhibition of NF-κB activation.''; Cell Signal, 2014 PubMed Europe PMC Scholia
  6. Jordan-Sciutto KL, Dragich JM, Caltagarone J, Hall DJ, Bowser R; ''Fetal Alz-50 clone 1 (FAC1) protein interacts with the Myc-associated zinc finger protein (ZF87/MAZ) and alters its transcriptional activity.''; Biochemistry, 2000 PubMed Europe PMC Scholia
  7. Serrador JM, Nieto M, Alonso-Lebrero JL, del Pozo MA, Calvo J, Furthmayr H, Schwartz-Albiez R, Lozano F, González-Amaro R, Sánchez-Mateos P, Sánchez-Madrid F; ''CD43 interacts with moesin and ezrin and regulates its redistribution to the uropods of T lymphocytes at the cell-cell contacts.''; Blood, 1998 PubMed Europe PMC Scholia
  8. Abbondanza C, Rossi V, Roscigno A, Gallo L, Belsito A, Piluso G, Medici N, Nigro V, Molinari AM, Moncharmont B, Puca GA; ''Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell.''; J Cell Biol, 1998 PubMed Europe PMC Scholia
  9. Gong Z, Cho YW, Kim JE, Ge K, Chen J; ''Accumulation of Pax2 transactivation domain interaction protein (PTIP) at sites of DNA breaks via RNF8-dependent pathway is required for cell survival after DNA damage.''; J Biol Chem, 2009 PubMed Europe PMC Scholia
  10. Chen GI, Tisayakorn S, Jorgensen C, D'Ambrosio LM, Goudreault M, Gingras AC; ''PP4R4/KIAA1622 forms a novel stable cytosolic complex with phosphoprotein phosphatase 4.''; J Biol Chem, 2008 PubMed Europe PMC Scholia
  11. Ingermann AR, Yang YF, Han J, Mikami A, Garza AE, Mohanraj L, Fan L, Idowu M, Ware JL, Kim HS, Lee DY, Oh Y; ''Identification of a novel cell death receptor mediating IGFBP-3-induced anti-tumor effects in breast and prostate cancer.''; J Biol Chem, 2010 PubMed Europe PMC Scholia
  12. Malik SS, Patterson DN, Ncube Z, Toth EA; ''The crystal structure of human quinolinic acid phosphoribosyltransferase in complex with its inhibitor phthalic acid.''; Proteins, 2014 PubMed Europe PMC Scholia
  13. Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA; ''The expanding spectrum of movement disorders in genetic epilepsies.''; Dev Med Child Neurol, 2020 PubMed Europe PMC Scholia
  14. Windner SE, Bird NC, Patterson SE, Doris RA, Devoto SH; ''Fss/Tbx6 is required for central dermomyotome cell fate in zebrafish.''; Biol Open, 2012 PubMed Europe PMC Scholia
  15. Zhang Z, Sun Y, Cho YW, Chow CC, Simons SS Jr; ''PA1 protein, a new competitive decelerator acting at more than one step to impede glucocorticoid receptor-mediated transactivation.''; J Biol Chem, 2013 PubMed Europe PMC Scholia
  16. Riebeling C, Allegood JC, Wang E, Merrill AH Jr, Futerman AH; ''Two mammalian longevity assurance gene (LAG1) family members, trh1 and trh4, regulate dihydroceramide synthesis using different fatty acyl-CoA donors.''; J Biol Chem, 2003 PubMed Europe PMC Scholia
  17. Chen Z, Cobb MH; ''Regulation of stress-responsive mitogen-activated protein (MAP) kinase pathways by TAO2.''; J Biol Chem, 2001 PubMed Europe PMC Scholia
  18. Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C; ''The evolving spectrum of PRRT2-associated paroxysmal diseases.''; Brain, 2015 PubMed Europe PMC Scholia
  19. Germani A, Bruzzoni-Giovanelli H, Fellous A, Gisselbrecht S, Varin-Blank N, Calvo F; ''SIAH-1 interacts with alpha-tubulin and degrades the kinesin Kid by the proteasome pathway during mitosis.''; Oncogene, 2000 PubMed Europe PMC Scholia
  20. Chen L, Dong W, Zou T, Ouyang L, He G, Liu Y, Qi Y; ''Protein phosphatase 4 negatively regulates LPS cascade by inhibiting ubiquitination of TRAF6.''; FEBS Lett, 2008 PubMed Europe PMC Scholia
  21. Rahman IA, Tsuboi K, Hussain Z, Yamashita R, Okamoto Y, Uyama T, Yamazaki N, Tanaka T, Tokumura A, Ueda N; ''Calcium-dependent generation of N-acylethanolamines and lysophosphatidic acids by glycerophosphodiesterase GDE7.''; Biochim Biophys Acta, 2016 PubMed Europe PMC Scholia
  22. Böhme MA, Beis C, Reddy-Alla S, Reynolds E, Mampell MM, Grasskamp AT, Lützkendorf J, Bergeron DD, Driller JH, Babikir H, Göttfert F, Robinson IM, O'Kane CJ, Hell SW, Wahl MC, Stelzl U, Loll B, Walter AM, Sigrist SJ; ''Active zone scaffolds differentially accumulate Unc13 isoforms to tune Ca(2+) channel-vesicle coupling.''; Nat Neurosci, 2016 PubMed Europe PMC Scholia
  23. Hosono K, Sasaki T, Minoshima S, Shimizu N; ''Identification and characterization of a novel gene family YPEL in a wide spectrum of eukaryotic species.''; Gene, 2004 PubMed Europe PMC Scholia
  24. Miyazaki T, Hashimoto K, Uda A, Sakagami H, Nakamura Y, Saito SY, Nishi M, Kume H, Tohgo A, Kaneko I, Kondo H, Fukunaga K, Kano M, Watanabe M, Takeshima H; ''Disturbance of cerebellar synaptic maturation in mutant mice lacking BSRPs, a novel brain-specific receptor-like protein family.''; FEBS Lett, 2006 PubMed Europe PMC Scholia
  25. Zhang X, Ozawa Y, Lee H, Wen YD, Tan TH, Wadzinski BE, Seto E; ''Histone deacetylase 3 (HDAC3) activity is regulated by interaction with protein serine/threonine phosphatase 4.''; Genes Dev, 2005 PubMed Europe PMC Scholia
  26. He H, Tan CK, Downey KM, So AG; ''A tumor necrosis factor alpha- and interleukin 6-inducible protein that interacts with the small subunit of DNA polymerase delta and proliferating cell nuclear antigen.''; Proc Natl Acad Sci U S A, 2001 PubMed Europe PMC Scholia
  27. Windner SE, Doris RA, Ferguson CM, Nelson AC, Valentin G, Tan H, Oates AC, Wardle FC, Devoto SH; ''Tbx6, Mesp-b and Ripply1 regulate the onset of skeletal myogenesis in zebrafish.''; Development, 2015 PubMed Europe PMC Scholia
  28. Yamashita-Sugahara Y, Tokuzawa Y, Nakachi Y, Kanesaki-Yatsuka Y, Matsumoto M, Mizuno Y, Okazaki Y; ''Fam57b (family with sequence similarity 57, member B), a novel peroxisome proliferator-activated receptor γ target gene that regulates adipogenesis through ceramide synthesis.''; J Biol Chem, 2013 PubMed Europe PMC Scholia
  29. Suzuki K, Nishihata J, Arai Y, Honma N, Yamamoto K, Irimura T, Toyoshima S; ''Molecular cloning of a novel actin-binding protein, p57, with a WD repeat and a leucine zipper motif.''; FEBS Lett, 1995 PubMed Europe PMC Scholia
  30. Fujihara Y, Lu Y, Noda T, Oji A, Larasati T, Kojima-Kita K, Yu Z, Matzuk RM, Matzuk MM, Ikawa M; ''Spermatozoa lacking Fertilization Influencing Membrane Protein (FIMP) fail to fuse with oocytes in mice.''; Proc Natl Acad Sci U S A, 2020 PubMed Europe PMC Scholia
  31. Yu Z, Fotouhi-Ardakani N, Wu L, Maoui M, Wang S, Banville D, Shen SH; ''PTEN associates with the vault particles in HeLa cells.''; J Biol Chem, 2002 PubMed Europe PMC Scholia
  32. Heminger K, Markey M, Mpagi M, Berberich SJ; ''Alterations in gene expression and sensitivity to genotoxic stress following HdmX or Hdm2 knockdown in human tumor cells harboring wild-type p53.''; Aging (Albany NY), 2009 PubMed Europe PMC Scholia
  33. Kickhoefer VA, Siva AC, Kedersha NL, Inman EM, Ruland C, Streuli M, Rome LH; ''The 193-kD vault protein, VPARP, is a novel poly(ADP-ribose) polymerase.''; J Cell Biol, 1999 PubMed Europe PMC Scholia
  34. Fukuoka SI, Nyaruhucha CM, Shibata K; ''Characterization and functional expression of the cDNA encoding human brain quinolinate phosphoribosyltransferase.''; Biochim Biophys Acta, 1998 PubMed Europe PMC Scholia
  35. Liu H, Woznica K, Catton G, Crawford A, Botting N, Naismith JH; ''Structural and kinetic characterization of quinolinate phosphoribosyltransferase (hQPRTase) from homo sapiens.''; J Mol Biol, 2007 PubMed Europe PMC Scholia
  36. Lykidis A, Jackson PD, Rock CO, Jackowski S; ''The role of CDP-diacylglycerol synthetase and phosphatidylinositol synthase activity levels in the regulation of cellular phosphatidylinositol content.''; J Biol Chem, 1997 PubMed Europe PMC Scholia
  37. Hu MC, Tang-Oxley Q, Qiu WR, Wang YP, Mihindukulasuriya KA, Afshar R, Tan TH; ''Protein phosphatase X interacts with c-Rel and stimulates c-Rel/nuclear factor kappaB activity.''; J Biol Chem, 1998 PubMed Europe PMC Scholia
  38. Zhou YB, Cao JB, Yang HM, Zhu H, Xu ZG, Wang KS, Zhang X, Wang ZQ, Han ZG; ''hZG16, a novel human secreted protein expressed in liver, was down-regulated in hepatocellular carcinoma.''; Biochem Biophys Res Commun, 2007 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
134719view16:18, 26 July 2024Ash iyerannotation for INO80 complex added.
134607view10:08, 23 July 2024EweitzOntology Term : 'chromosomal deletion syndrome' added !
125693view13:00, 7 March 2023Fehrhartremoved pseudogenes
115778view15:17, 11 March 2021FehrhartModified description
113592view08:18, 4 November 2020Fehrhartconnected unconnected lines
113017view05:57, 30 October 2020EgonwReplaced a secondary ChEBI identifier
112993view10:30, 29 October 2020Fehrhartfirst complete draft done
112992view10:19, 29 October 2020Fehrhartwork in progress
112991view09:34, 29 October 2020Fehrhartwork in progress
112982view13:14, 28 October 2020Fehrhartwork in progress
112961view07:25, 23 October 2020EgonwReplaced secondary ChEBI identifiers
112957view15:22, 22 October 2020Fehrhartwork in progress
112956view15:03, 22 October 2020Fehrhartwork in progress
112946view09:01, 22 October 2020Fehrhartwork in progress
112920view10:24, 20 October 2020Fehrhartwork in progress
112918view10:07, 20 October 2020Fehrhartwork in progress
112917view09:36, 20 October 2020Fehrhartwork in progress
112846view05:47, 12 October 2020EgonwReplaced secondary ChEBI IDs with primary IDs
112286view13:02, 9 October 2020Fehrhartwork in progress
112285view12:14, 9 October 2020Fehrhartwork in progress
112284view11:34, 9 October 2020Fehrhartwork in progress
112283view11:05, 9 October 2020Fehrhartwork in progress
112282view10:16, 9 October 2020Fehrhartwork in progress
112269view15:03, 8 October 2020Fehrhartwork in progress
112128view20:40, 25 September 2020Khanspersdecreased board size
111261view15:35, 27 July 2020FehrhartModified description
111257view15:34, 27 July 2020FehrhartOntology Term : 'chromosome 16p11.2 deletion syndrome, 220kb' added !
111256view15:34, 27 July 2020FehrhartOntology Term : 'disease pathway' added !
111255view15:34, 27 July 2020FehrhartOntology Term : 'genetic disease' added !
111253view15:32, 27 July 2020FehrhartModified description
111251view15:20, 27 July 2020FehrhartNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
1-phosphatidyl-1D-myo-inositol(1−)Metabolite57880 (ChEBI)
5-phospho-α-D-ribose 1-diphosphateMetabolite58017 (ChEBI)
ALDOAGeneProductENSG00000149925 (Ensembl)
ASPHD1GeneProductENSG00000174939 (Ensembl)
BPTFGeneProductENSG00000171634 (Ensembl) FAC1
C16orf92GeneProductENSG00000167194 (Ensembl)
CA5AP1GeneProductENSG00000260133 (Ensembl)
CDIPTGeneProductENSG00000103502 (Ensembl)
CDIPTOSPGeneProductENSG00000214725 (Ensembl)
CDP-diacylglycerol(2−)Metabolite58332 (ChEBI)
CO2MetaboliteCHEBI:16526 (ChEBI)
CORO1AGeneProductENSG00000102879 (Ensembl)
DOC2AGeneProductENSG00000149927 (Ensembl)
ESR1GeneProductENSG00000091831 (Ensembl)
EZRGeneProductENSG00000092820 (Ensembl)
GDPD3GeneProductENSG00000102886 (Ensembl)
Glucocorticoid receptor pathwayPathwayWP2880 (WikiPathways)
H+Metabolite15378 (ChEBI)
HIRIP3GeneProductENSG00000149929 (Ensembl)
Histone modificationsPathwayWP2369 (WikiPathways)
INO80EGeneProductENSG00000169592 (Ensembl)
KCTD13GeneProductENSG00000174943 (Ensembl)
KIF22GeneProductENSG00000079616 (Ensembl)
KMT2CGeneProductENSG00000055609 (Ensembl)
KMT2DGeneProductENSG00000167548 (Ensembl)
MAB21L4GeneProductENSG00000185905 (Ensembl) C2orf54
MAPK3GeneProductENSG00000102882 (Ensembl)
MAZGeneProductENSG00000103495 (Ensembl)
MSNGeneProductENSG00000147065 (Ensembl)
MVPGeneProductENSG00000013364 (Ensembl)
NAD+ biosynthesisPathwayWP3645 (WikiPathways)
NR3C1GeneProductENSG00000113580 (Ensembl)
Neurotransmitter release cyclePathwayWP1871 (WikiPathways)
PAGR1GeneProductENSG00000280789 (Ensembl)
PARP4GeneProductENSG00000102699 (Ensembl)
PAXIP1GeneProductENSG00000157212 (Ensembl)
PPARGGeneProductENSG00000132170 (Ensembl)
PPP4CGeneProductENSG00000149923 (Ensembl)
PRRT2GeneProductENSG00000167371 (Ensembl)
PTENGeneProductENSG00000171862 (Ensembl)
QPRTGeneProductENSG00000103485 (Ensembl)
RN7SKP127GeneProductENSG00000222375 (Ensembl)
SEZ6L2GeneProductENSG00000174938 (Ensembl)
SIAH1GeneProductENSG00000196470 (Ensembl)
SLC7A5P1GeneProductENSG00000260727 (Ensembl)
SMG1P2GeneProductENSG00000205534 (Ensembl)
SPNGeneProductENSG00000197471 (Ensembl) Leukosialin also known as sialophorin or CD43
Sodium molybdateMetaboliteCHEBI:75215 (ChEBI)
TAOK2GeneProductENSG00000149930 (Ensembl)
TBX6GeneProductENSG00000149922 (Ensembl)
TLCD3BGeneProductENSG00000149926 (Ensembl)
TMEM219GeneProductENSG00000149932 (Ensembl)
YPEL3GeneProductENSG00000090238 (Ensembl)
ZG16GeneProductENSG00000174992 (Ensembl)
cytidine 5'-monophosphate(2−)Metabolite60377 (ChEBI)
diphosphate(3−) Metabolite33019 (ChEBI)
hsa-mir-3680-2GeneProductMI0019113 (miRBase Sequence)
myo-inositolMetabolite17268 (ChEBI)
nicotinate β-D-ribonucleotideMetabolite57502 (ChEBI)
phthalic acidMetaboliteCHEBI:29069 (ChEBI)
quinolinateMetaboliteCHEBI:29959 (ChEBI)

Annotated Interactions

SourceTargetTypeDatabase referenceComment
CDIPTmim-catalysis11580 (Rhea)
mim-conversion11580 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP4949"
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