1q21.1 copy number variation syndrome (WP4905)
Homo sapiens
1q21.1 copy number variation (deletion or duplication) syndromes are known for a highly variable phenotype especially concerning psychiatric problems. The genes on the red DNA strand represents the deleted, or duplicated, region. The downstream effects and interaction partners of the different genes are shown according to available knowledge. The breakpoints (chr1:146,527,987-147,394,444, GRCh37/hg19) are defined as given in Kendall et al. 2017: https://doi.org/10.1016/j.biopsych.2016.08.014.
Authors
Friederike Ehrhart , Egon Willighagen , Marvin Martens , Denise Slenter , and Eric WeitzActivity
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Cited In
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Organisms
Homo sapiensCommunities
Rare DiseasesAnnotations
Disease Ontology
chromosomal disease bipolar disorder schizophrenia chromosome 1q21.1 deletion syndrome chromosomal deletion syndrome chromosomal duplication syndrome chromosome 1q21.1 duplication syndrome major depressive disorderPathway Ontology
inborn error of metabolism pathway congenital disease pathwayLabel | Type | Compact URI | Comment |
---|---|---|---|
N,N-dimethylaniline | Metabolite | chebi:16269 | |
N,N-dimethylaniline N-oxide | Metabolite | chebi:17735 | |
AMP | Metabolite | chebi:16027 | |
ADP | Metabolite | chebi:16761 | |
DNA | Metabolite | chebi:16991 | |
1-(9Z-octadecenoyl)-sn-glycero-3-phosphate | Metabolite | chebi:62837 | |
an alcohol | Metabolite | chebi:30879 | |
Phosphate | Metabolite | hmdb:HMDB0001429 | |
1-(9Z-octadecenoyl)-sn-glycerol | Metabolite | chebi:75757 | |
phosphate monoesters | Metabolite | chebi:7794 | |
OCLN | GeneProduct | ensembl:ENSG00000197822 | |
GJA1 | GeneProduct | ensembl:ENSG00000152661 | |
TJP1 | GeneProduct | ensembl:ENSG00000104067 | |
GJA3 | GeneProduct | ensembl:ENSG00000121743 | |
F11R | GeneProduct | ensembl:ENSG00000158769 | CD321 |
KIRREL1 | GeneProduct | ensembl:ENSG00000183853 | |
AFDN | GeneProduct | ensembl:ENSG00000130396 | |
TJP3 | GeneProduct | ensembl:ENSG00000105289 | |
TJP2 | GeneProduct | ensembl:ENSG00000119139 | |
PFN1P8 | GeneProduct | ensembl:ENSG00000244371 | pseudo gene |
NBPF13P | GeneProduct | ensembl:ENSG00000227242 | pseudo gene |
RNU1-151P | GeneProduct | ensembl:ENSG00000201142 | pseudo gene |
PRKAG1 | GeneProduct | ensembl:ENSG00000181929 | |
PRKAA1 | GeneProduct | ensembl:ENSG00000132356 | |
PRKAA2 | GeneProduct | ensembl:ENSG00000162409 | |
PDIA3P1 | GeneProduct | ensembl:ENSG00000180867 | pseudo gene |
CCT8P1 | GeneProduct | ensembl:ENSG00000226015 | pseudo gene |
PRKAG2 | GeneProduct | ensembl:ENSG00000106617 | |
PRKAB2 | GeneProduct | ensembl:ENSG00000131791 | regulatory subunit |
FMO5 | GeneProduct | ensembl:ENSG00000131781 | |
RPL7AP15 | GeneProduct | ensembl:ENSG00000236806 | pseudo gene |
PRKAG3 | GeneProduct | ensembl:ENSG00000115592 | |
PRKAB1 | GeneProduct | ensembl:ENSG00000111725 | |
NBPF12 | GeneProduct | ensembl:ENSG00000268043 | |
CHD1L | GeneProduct | ensembl:ENSG00000131778 | |
GJA8 | GeneProduct | ensembl:ENSG00000121634 | connexin 50 |
OR13Z3P | GeneProduct | ensembl:ENSG00000272480 | pseudo gene |
AMELX | GeneProduct | ensembl:ENSG00000125363 | |
GJA5 | GeneProduct | ensembl:ENSG00000265107 | connexin 40 (Cx40) |
ACP6 | GeneProduct | ensembl:ENSG00000162836 | |
RN7SL261P | GeneProduct | ensembl:ENSG00000277762 | pseudo gene |
CTNNB1 | GeneProduct | ensembl:ENSG00000168036 | |
OR13Z2P | GeneProduct | ensembl:ENSG00000272443 | pseudo gene |
PYGO1 | GeneProduct | ensembl:ENSG00000171016 | |
OR13Z1P | GeneProduct | ensembl:ENSG00000226653 | pseudo gene |
BCL9 | GeneProduct | ensembl:ENSG00000116128 | |
PYGO2 | GeneProduct | ensembl:ENSG00000163348 |
References
- The mammalian flavin-containing monooxygenases: molecular characterization and regulation of expression. Hines RN, Cashman JR, Philpot RM, Williams DE, Ziegler DM. Toxicol Appl Pharmacol. 1994 Mar;125(1):1–6. PubMed Europe PMC Scholia
- Mammalian AMP-activated protein kinase subfamily. Stapleton D, Mitchelhill KI, Gao G, Widmer J, Michell BJ, Teh T, et al. J Biol Chem. 1996 Jan 12;271(2):611–4. PubMed Europe PMC Scholia
- The gap junction protein connexin43 interacts with the second PDZ domain of the zona occludens-1 protein. Giepmans BN, Moolenaar WH. Curr Biol. 1998;8(16):931–4. PubMed Europe PMC Scholia
- The tight junction protein ZO-1 establishes a link between the transmembrane protein occludin and the actin cytoskeleton. Fanning AS, Jameson BJ, Jesaitis LA, Anderson JM. J Biol Chem. 1998 Nov 6;273(45):29745–53. PubMed Europe PMC Scholia
- Characterization of ZO-2 as a MAGUK family member associated with tight as well as adherens junctions with a binding affinity to occludin and alpha catenin. Itoh M, Morita K, Tsukita S. J Biol Chem. 1999 Feb 26;274(9):5981–6. PubMed Europe PMC Scholia
- In vivo interaction of AF-6 with activated Ras and ZO-1. Yamamoto T, Harada N, Kawano Y, Taya S, Kaibuchi K. Biochem Biophys Res Commun. 1999 May 27;259(1):103–7. PubMed Europe PMC Scholia
- Isolation of a cDNA encoding human lysophosphatidic acid phosphatase that is involved in the regulation of mitochondrial lipid biosynthesis. Hiroyama M, Takenawa T. J Biol Chem. 1999 Oct 8;274(41):29172–80. PubMed Europe PMC Scholia
- Protein interactions at the tight junction. Actin has multiple binding partners, and ZO-1 forms independent complexes with ZO-2 and ZO-3. Wittchen ES, Haskins J, Stevenson BR. J Biol Chem. 1999 Dec 3;274(49):35179–85. PubMed Europe PMC Scholia
- Junctional adhesion molecule interacts with the PDZ domain-containing proteins AF-6 and ZO-1. Ebnet K, Schulz CU, Meyer Zu Brickwedde MK, Pendl GG, Vestweber D. J Biol Chem. 2000 Sep 8;275(36):27979–88. PubMed Europe PMC Scholia
- Tyrosine phosphorylation and dissociation of occludin-ZO-1 and E-cadherin-beta-catenin complexes from the cytoskeleton by oxidative stress. Rao RK, Basuroy S, Rao VU, Karnaky KJ Jr, Gupta A. Biochem J. 2002 Dec 1;368(Pt 2):471–81. PubMed Europe PMC Scholia
- The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1. Huber TB, Schmidts M, Gerke P, Schermer B, Zahn A, Hartleben B, et al. J Biol Chem. 2003 Apr 11;278(15):13417–21. PubMed Europe PMC Scholia
- Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1). Nielsen PA, Baruch A, Shestopalov VI, Giepmans BNG, Dunia I, Benedetti EL, et al. Mol Biol Cell. 2003 Jun;14(6):2470–81. PubMed Europe PMC Scholia
- Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability. Liu G, Kaw B, Kurfis J, Rahmanuddin S, Kanwar YS, Chugh SS. J Clin Invest. 2003 Jul;112(2):209–21. PubMed Europe PMC Scholia
- The junctional adhesion molecule (JAM) family members JAM-2 and JAM-3 associate with the cell polarity protein PAR-3: a possible role for JAMs in endothelial cell polarity. Ebnet K, Aurrand-Lions M, Kuhn A, Kiefer F, Butz S, Zander K, et al. J Cell Sci. 2003 Oct 1;116(Pt 19):3879–91. PubMed Europe PMC Scholia
- A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. Vandepoele K, Van Roy N, Staes K, Speleman F, van Roy F. Mol Biol Evol. 2005 Nov;22(11):2265–74. PubMed Europe PMC Scholia
- Identification of multiple distinct Snf2 subfamilies with conserved structural motifs. Flaus A, Martin DMA, Barton GJ, Owen-Hughes T. Nucleic Acids Res. 2006 May 31;34(10):2887–905. PubMed Europe PMC Scholia
- Common variants in the BCL9 gene conferring risk of schizophrenia. Li J, Zhou G, Ji W, Feng G, Zhao Q, Liu J, et al. Arch Gen Psychiatry. 2011 Mar;68(3):232–40. PubMed Europe PMC Scholia
- Crystal structures and biochemical studies of human lysophosphatidic acid phosphatase type 6. Li J, Dong Y, Lü X, Wang L, Peng W, Zhang XC, et al. Protein Cell. 2013 Jul;4(7):548–61. PubMed Europe PMC Scholia
- Clinical phenotype of the recurrent 1q21.1 copy-number variant. Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, et al. Genet Med. 2016 Apr;18(4):341–9. PubMed Europe PMC Scholia
- BCL9/9L-β-catenin Signaling is Associated With Poor Outcome in Colorectal Cancer. Moor AE, Anderle P, Cantù C, Rodriguez P, Wiedemann N, Baruthio F, et al. EBioMedicine. 2015 Oct 30;2(12):1932–43. PubMed Europe PMC Scholia
- A cytoplasmic role of Wnt/β-catenin transcriptional cofactors Bcl9, Bcl9l, and Pygopus in tooth enamel formation. Cantù C, Pagella P, Shajiei TD, Zimmerli D, Valenta T, Hausmann G, et al. Sci Signal. 2017 Feb 7;10(465):eaah4598. PubMed Europe PMC Scholia
- Mutations in Bcl9 and Pygo genes cause congenital heart defects by tissue-specific perturbation of Wnt/β-catenin signaling. Cantù C, Felker A, Zimmerli D, Prummel KD, Cabello EM, Chiavacci E, et al. Genes Dev. 2018 Nov 1;32(21–22):1443–58. PubMed Europe PMC Scholia