16p11.2 proximal deletion syndrome (Homo sapiens)

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Bibliography

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

External references

DataNodes

Name	Type	Database reference	Comment
5-phospho-α-D-ribose 1-diphosphate	Metabolite	58017 (ChEBI)
ALDOA	GeneProduct	ENSG00000149925 (Ensembl)
ASPHD1	GeneProduct	ENSG00000174939 (Ensembl)
BPTF	GeneProduct	ENSG00000171634 (Ensembl)	FAC1
C16orf92	GeneProduct	ENSG00000167194 (Ensembl)
CA5AP1	GeneProduct	ENSG00000260133 (Ensembl)
CDIPT	GeneProduct	ENSG00000103502 (Ensembl)
CDIPTOSP	GeneProduct	ENSG00000214725 (Ensembl)
CO2	Metabolite	CHEBI:16526 (ChEBI)
CORO1A	GeneProduct	ENSG00000102879 (Ensembl)
DOC2A	GeneProduct	ENSG00000149927 (Ensembl)
EZR	GeneProduct	ENSG00000092820 (Ensembl)
GDPD3	GeneProduct	ENSG00000102886 (Ensembl)
Glucocorticoid receptor pathway	Pathway	WP2880 (WikiPathways)
HIRIP3	GeneProduct	ENSG00000149929 (Ensembl)
Histone modifications	Pathway	WP2369 (WikiPathways)
INO80E	GeneProduct	ENSG00000169592 (Ensembl)
KCTD13	GeneProduct	ENSG00000174943 (Ensembl)
KIF22	GeneProduct	ENSG00000079616 (Ensembl)
KMT2C	GeneProduct	ENSG00000055609 (Ensembl)
KMT2D	GeneProduct	ENSG00000167548 (Ensembl)
MAB21L4	GeneProduct	ENSG00000185905 (Ensembl)	C2orf54
MAPK3	GeneProduct	ENSG00000102882 (Ensembl)
MAZ	GeneProduct	ENSG00000103495 (Ensembl)
MSN	GeneProduct	ENSG00000147065 (Ensembl)
MVP	GeneProduct	ENSG00000013364 (Ensembl)
NAD+ biosynthesis	Pathway	WP3645 (WikiPathways)
NR3C1	GeneProduct	ENSG00000113580 (Ensembl)
Neurotransmitter release cycle	Pathway	WP1871 (WikiPathways)
PAGR1	GeneProduct	ENSG00000280789 (Ensembl)
PAXIP1	GeneProduct	ENSG00000157212 (Ensembl)
PPARG	GeneProduct	ENSG00000132170 (Ensembl)
PPP4C	GeneProduct	ENSG00000149923 (Ensembl)
PRRT2	GeneProduct	ENSG00000167371 (Ensembl)
QPRT	GeneProduct	ENSG00000103485 (Ensembl)
RN7SKP127	GeneProduct	ENSG00000222375 (Ensembl)
SEZ6L2	GeneProduct	ENSG00000174938 (Ensembl)
SIAH1	GeneProduct	ENSG00000196470 (Ensembl)
SLC7A5P1	GeneProduct	ENSG00000260727 (Ensembl)
SMG1P2	GeneProduct	ENSG00000205534 (Ensembl)
SPN	GeneProduct	ENSG00000197471 (Ensembl)	Leukosialin also known as sialophorin or CD43
TAOK2	GeneProduct	ENSG00000149930 (Ensembl)
TBX6	GeneProduct	ENSG00000149922 (Ensembl)
TLCD3B	GeneProduct	ENSG00000149926 (Ensembl)
TMEM219	GeneProduct	ENSG00000149932 (Ensembl)
YPEL3	GeneProduct	ENSG00000090238 (Ensembl)
ZG16	GeneProduct	ENSG00000174992 (Ensembl)
diphosphate(3−)	Metabolite	33019 (ChEBI)
hsa-mir-3680-2	GeneProduct	MI0019113 (miRBase Sequence)
nicotinate β-D-ribonucleotide	Metabolite	57502 (ChEBI)
phthalic acid	Metabolite	CHEBI:29069 (ChEBI)
quinolinate	Metabolite	CHEBI:29959 (ChEBI)

Annotated Interactions

No annotated interactions