Prader-Willi and Angelman syndrome (WP3998)
Homo sapiens
Prader-Willi syndrome
Authors
Kelly Janssen , Martina Summer-Kutmon , Friederike Ehrhart , Susan Coort , Egon Willighagen , Denise Slenter , Alex Pico , Anders Riutta , Kristina Hanspers , Eric Weitz , Finterly Hu , and Lars WillighagenActivity
Discuss this pathway
Check for ongoing discussions or start your own.
Cited In
Are you planning to include this pathway in your next publication? See How to Cite and add a link here to your paper once it's online.
Organisms
Homo sapiensCommunities
Diseases Rare DiseasesAnnotations
Disease Ontology
Prader-Willi syndrome Angelman syndromePathway Ontology
disease pathwayLabel | Type | Compact Identifier | Comment |
---|---|---|---|
L-dopaquinone | Metabolite | chebi:16852 | |
L-tyrosine | Metabolite | chebi:58315 | |
Ca2+ | Metabolite | chebi:29108 | |
PWRN4 | GeneProduct | ensembl:ENSG00000260232 | |
PWRN2 | GeneProduct | ensembl:ENSG00000260551 | |
PWRN3 | GeneProduct | ensembl:ENSG00000260760 | |
PWRN1 | GeneProduct | ensembl:ENSG00000259905 | |
TUBGCP2 | GeneProduct | ensembl:ENSG00000130640 | |
TUBGCP3 | GeneProduct | ensembl:ENSG00000126216 | |
TUBGCP4 | GeneProduct | ensembl:ENSG00000137822 | |
TUBGCP5 | GeneProduct | ensembl:ENSG00000153575 | |
TUBGCP6 | GeneProduct | ensembl:ENSG00000128159 | |
NUP42 | GeneProduct | uniprot:O15504 | |
NUP155 | GeneProduct | uniprot:O75694 | |
TPR | GeneProduct | uniprot:P12270 | |
NUP214 | GeneProduct | uniprot:P35658 | |
NUP62 | GeneProduct | uniprot:P37198 | |
NUP153 | GeneProduct | uniprot:P49790 | |
RANBP2 | GeneProduct | uniprot:P49792 | |
NUP98 | GeneProduct | uniprot:P52948 | |
SEC13 | GeneProduct | uniprot:P55735 | |
NUP107 | GeneProduct | uniprot:P57740 | |
RAE1 | GeneProduct | uniprot:P78406 | |
NUP160 | GeneProduct | uniprot:Q12769 | |
GLE1 | GeneProduct | uniprot:Q53GS7 | |
NUP188 | GeneProduct | uniprot:Q5SRE5 | |
NUP54 | GeneProduct | uniprot:Q7Z3B4 | |
NUP93 | GeneProduct | uniprot:Q8N1F7 | |
NUP43 | GeneProduct | uniprot:Q8NFH3 | |
NUP37 | GeneProduct | uniprot:Q8NFH4 | |
NUP35 | GeneProduct | uniprot:Q8NFH5 | |
NUP210 | GeneProduct | uniprot:Q8TEM1 | |
NUP133 | GeneProduct | uniprot:Q8WUM0 | |
AHCTF1 | GeneProduct | uniprot:Q8WYP5 | |
NUP205 | GeneProduct | uniprot:Q92621 | |
SEH1L | GeneProduct | uniprot:Q96EE3 | |
POM121 | GeneProduct | uniprot:Q96HA1 | |
NUP88 | GeneProduct | uniprot:Q99567 | |
NDC1 | GeneProduct | uniprot:Q9BTX1 | |
NUP58 | GeneProduct | uniprot:Q9BVL2 | |
NUP85 | GeneProduct | uniprot:Q9BW27 | |
AAAS | GeneProduct | uniprot:Q9NRG9 | |
NUP50 | GeneProduct | uniprot:Q9UKX7 | |
FMR1 | GeneProduct | ensembl:ENSG00000102081 | |
GOLGA6L2 | GeneProduct | ensembl:ENSG00000174450 | |
EIF4E | GeneProduct | ensembl:ENSG00000151247 | |
GOLGA8S | GeneProduct | ensembl:ENSG00000261739 | |
UBE2N | GeneProduct | ensembl:ENSG00000177889 | |
RNF8 | GeneProduct | ensembl:ENSG00000112130 | |
SLC45A2 | GeneProduct | ensembl:ENSG00000164175 | |
GABA(A) receptorsubunit delta | GeneProduct | ensembl:ENSG00000187730 | |
HERC2 | GeneProduct | ensembl:ENSG00000128731 | |
LHB | GeneProduct | uniprot:P01229 | |
MDM4 | GeneProduct | uniprot:O15151 | |
ARF | GeneProduct | uniprot:Q8N726 | |
FSHB | GeneProduct | uniprot:P01225 | |
GABA(A) receptor subunit beta-3 | GeneProduct | uniprot:P28472 | |
CDC6 | GeneProduct | uniprot:Q99741 | |
CGA | GeneProduct | uniprot:P01215 | |
MDM2 | GeneProduct | uniprot:Q00987 | |
GABA(A) receptor subunit alpha-5 | GeneProduct | uniprot:P31644 | |
IPW | GeneProduct | ncbigene:3653 | |
SNORD116@ | GeneProduct | ncbigene:692236 | |
MAGEL2 | GeneProduct | ensembl:ENSG00000254585 | |
CYFIP1 | GeneProduct | ensembl:ENSG00000273749 | |
GABRA5 | GeneProduct | ensembl:ENSG00000186297 | |
GABRB3 | GeneProduct | ensembl:ENSG00000166206 | |
PCSK1 | GeneProduct | ensembl:ENSG00000175426 | |
TUBGCP5 | GeneProduct | ensembl:ENSG00000275835 | |
NHLH2 | GeneProduct | ensembl:ENSG00000177551 | |
GABRG3 | GeneProduct | ensembl:ENSG00000182256 | |
SNORD115@ | GeneProduct | ncbigene:692218 | |
NIPA2 | GeneProduct | ensembl:ENSG00000140157 | |
NIPA1 | GeneProduct | ensembl:ENSG00000170113 | |
ATP10A | GeneProduct | ensembl:ENSG00000206190 | |
SNORD108 | GeneProduct | ensembl:ENSG00000239014 | |
SNURF | GeneProduct | ensembl:ENSG00000273173 | |
SNRPN | GeneProduct | ensembl:ENSG00000128739 | |
NDN | GeneProduct | ensembl:ENSG00000182636 | |
UBE3A | GeneProduct | ensembl:ENSG00000114062 | |
MKRN3 | GeneProduct | ensembl:ENSG00000179455 | |
NPAP1 | GeneProduct | ensembl:ENSG00000185823 | |
SNORD64 | GeneProduct | ensembl:ENSG00000276610 | |
SNORD109A | GeneProduct | ensembl:ENSG00000274640 | |
SNORD109B | GeneProduct | ensembl:ENSG00000239169 | |
SNURF-SNRPN | GeneProduct | ensembl:ENSG00000128739 | |
PCSK1 | GeneProduct | ensembl:ENSG00000175426 | |
CGA | GeneProduct | uniprot:P01215 | |
E2F1 | GeneProduct | ensembl:ENSG00000101412 | |
UBE3A | GeneProduct | ensembl:ENSG00000114062 | |
E2F1 | GeneProduct | ensembl:ENSG00000101412 | |
OCA2 | GeneProduct | ensembl:ENSG00000104044 | |
MSX1 | GeneProduct | ensembl:ENSG00000163132 | |
DLX5 | GeneProduct | ensembl:ENSG00000105880 | |
MAGEL2 | GeneProduct | ensembl:ENSG00000254585 | |
NDN | GeneProduct | ensembl:ENSG00000182636 | |
PCM1 | GeneProduct | ensembl:ENSG00000078674 | |
FEZ1 | GeneProduct | ensembl:ENSG00000149557 | |
BBS4 | GeneProduct | ensembl:ENSG00000140463 | |
NGF | GeneProduct | ensembl:ENSG00000134259 | |
FEZ1 | GeneProduct | ensembl:ENSG00000149557 | |
PRKCZ | GeneProduct | ensembl:ENSG00000067606 | |
BBS4 | GeneProduct | ensembl:ENSG00000140463 | |
HTR2C | GeneProduct | ensembl:ENSG00000147246 | |
GABRR1 | GeneProduct | ncbigene:2569 | |
GABRR2 | GeneProduct | ncbigene:2570 | |
GABRR3 | GeneProduct | ncbigene:200959 | |
HTR2C | Protein | ensembl:ENSG00000147246 | |
CCND1 | Protein | uniprot:P24385 | |
CCND2 | Protein | uniprot:P30279 | |
RB1 | Protein | uniprot:P06400 | |
p16-INK4a | Protein | uniprot:P42771 | |
CDKN2B | Protein | uniprot:P42772 | |
NK3R | Protein | uniprot:P29371 | |
KISS1 | Protein | uniprot:Q15726 | |
P-protein | Protein | uniprot:Q04671 | |
Tyrosinase | Protein | uniprot:P14679 | |
p53 | Protein | uniprot:P04637 | |
CDK4 | Protein | uniprot:P11802 | |
NKB | Protein | uniprot:Q2UVB8 | |
GHRH (1-108) | Protein | uniprot:P01286 | |
GHRH (32-75) | Protein | uniprot:P01286 | |
Insulin (25-110) | Protein | uniprot:P01308 | |
POMC (1-241) | Protein | uniprot:P01189 | |
Oxytocin-neurophysin 1 (1-125) | Protein | uniprot:P01178 | |
Ghrelin (24-51) | Protein | uniprot:Q9UBU3 | |
GNRH1 (24-92) | Protein | uniprot:P01148 | |
POMC (138-150) | Protein | uniprot:P01189 | |
Insulin B chain(25-54) | Protein | uniprot:P01308 | |
GNRH1 (24-33) | Protein | uniprot:P01148 | |
BDNF (1-247) | Protein | uniprot:P23560 | |
Oxytocin (20-28) | Protein | uniprot:P01178 | |
BDNF (129-247) | Protein | uniprot:P23560 | |
Ghrelin (1-117) | Protein | uniprot:Q9UBU3 | |
Insulin A chain(90-110) | Protein | uniprot:P01308 | |
Insulin (57-87) | Protein | uniprot:P01308 | |
p16-INK4a | Protein | uniprot:P42771 | |
CDKN2C | Protein | uniprot:P42773 | |
CCND1 | Protein | uniprot:P24385 | |
CCND2 | Protein | uniprot:P30279 | |
CDK6 | Protein | uniprot:Q00534 | |
FEZ2 | Protein | ensembl:ENSG00000171055 | |
GNRH1 | Protein | uniprot:P01148 | |
GABRG2 | Protein | ensembl:ENSG00000113327 | |
GABRG1 | Protein | ensembl:ENSG00000163285 | |
GABRG3 | Protein | ensembl:ENSG00000182256 |
References
- May B, editor. mRNA Splicing - Major Pathway (update) [Internet]. Reactome. Reactome; Available from: http://dx.doi.org/10.3180/R-HSA-72163.3 DOI
- Insulin structure and stability. Brange J, Langkjoer L. Pharm Biotechnol. 1993;5:315–50. PubMed Europe PMC Scholia
- Identification, molecular cloning, and distribution of a short variant of the 5-hydroxytryptamine2C receptor produced by alternative splicing. Canton H, Emeson RB, Barker EL, Backstrom JR, Lu JT, Chang MS, et al. Mol Pharmacol. 1996 Oct;50(4):799–807. PubMed Europe PMC Scholia
- Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior. Homanics GE, DeLorey TM, Firestone LL, Quinlan JJ, Handforth A, Harrison NL, et al. Proc Natl Acad Sci U S A. 1997 Apr 15;94(8):4143–8. PubMed Europe PMC Scholia
- Regulation of serotonin-2C receptor G-protein coupling by RNA editing. Burns CM, Chu H, Rueter SM, Hutchinson LK, Canton H, Sanders-Bush E, et al. Nature. 1997 May 15;387(6630):303–8. PubMed Europe PMC Scholia
- Mammalian homologue of the Caenorhabditis elegans UNC-76 protein involved in axonal outgrowth is a protein kinase C zeta-interacting protein. Kuroda S, Nakagawa N, Tokunaga C, Tatematsu K, Tanizawa K. J Cell Biol. 1999 Feb 8;144(3):403–11. PubMed Europe PMC Scholia
- A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P. Schenck A, Bardoni B, Moro A, Bagni C, Mandel JL. Proc Natl Acad Sci U S A. 2001 Jul 17;98(15):8844–9. PubMed Europe PMC Scholia
- Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth. Lee S, Walker CL, Karten B, Kuny SL, Tennese AA, O’Neill MA, et al. Hum Mol Genet. 2005 Mar 1;14(5):627–37. PubMed Europe PMC Scholia
- Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development. Miller NLG, Wevrick R, Mellon PL. Hum Mol Genet. 2009 Jan 15;18(2):248–60. PubMed Europe PMC Scholia
- HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes. Bekker-Jensen S, Rendtlew Danielsen J, Fugger K, Gromova I, Nerstedt A, Lukas C, et al. Nat Cell Biol. 2010 Jan;12(1):80–6; sup pp 1-12. PubMed Europe PMC Scholia
- Regulation of NKB pathways and their roles in the control of Kiss1 neurons in the arcuate nucleus of the male mouse. Navarro VM, Gottsch ML, Wu M, García-Galiano D, Hobbs SJ, Bosch MA, et al. Endocrinology. 2011 Nov;152(11):4265–75. PubMed Europe PMC Scholia
- A global view of the OCA2-HERC2 region and pigmentation. Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Barta C, Lu RB, et al. Hum Genet. 2012 May;131(5):683–96. PubMed Europe PMC Scholia
- The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein. Neumann LC, Markaki Y, Mladenov E, Hoffmann D, Buiting K, Horsthemke B. Hum Mol Genet. 2012 Sep 15;21(18):4038–48. PubMed Europe PMC Scholia
- Magel2 is required for leptin-mediated depolarization of POMC neurons in the hypothalamic arcuate nucleus in mice. Mercer RE, Michaelson SD, Chee MJS, Atallah TA, Wevrick R, Colmers WF. PLoS Genet. 2013;9(1):e1003207. PubMed Europe PMC Scholia
- Leptin signaling defects in a mouse model of Prader-Willi syndrome: An orphan genetic obesity syndrome no more? Colmers WF, Wevrick R. Rare Dis. 2013 Mar 27;1:e24421. PubMed Europe PMC Scholia
- A new pathway in the control of the initiation of puberty: the MKRN3 gene. Abreu AP, Macedo DB, Brito VN, Kaiser UB, Latronico AC. J Mol Endocrinol. 2015 Jun;54(3):R131-9. PubMed Europe PMC Scholia
- Loss of Magel2 impairs the development of hypothalamic Anorexigenic circuits. Maillard J, Park S, Croizier S, Vanacker C, Cook JH, Prevot V, et al. Hum Mol Genet. 2016 Aug 1;25(15):3208–15. PubMed Europe PMC Scholia
- Increased alternate splicing of Htr2c in a mouse model for Prader-Willi syndrome leads disruption of 5HT2C receptor mediated appetite. Garfield AS, Davies JR, Burke LK, Furby HV, Wilkinson LS, Heisler LK, et al. Mol Brain. 2016 Dec 8;9(1):95. PubMed Europe PMC Scholia
- Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome. Burnett LC, LeDuc CA, Sulsona CR, Paull D, Rausch R, Eddiry S, et al. J Clin Invest. 2017 Jan 3;127(1):293–305. PubMed Europe PMC Scholia
- Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation. Delahanty RJ, Zhang Y, Bichell TJ, Shen W, Verdier K, Macdonald RL, et al. Cell Rep. 2016 Dec 20;17(12):3115–24. PubMed Europe PMC Scholia
- Reduced abundance of the E3 ubiquitin ligase E6AP contributes to decreased expression of the INK4/ARF locus in non-small cell lung cancer. Gamell C, Gulati T, Levav-Cohen Y, Young RJ, Do H, Pilling P, et al. Sci Signal. 2017 Jan 10;10(461):eaaf8223. PubMed Europe PMC Scholia
- Prader-Willi syndrome and Angelman syndrome: Visualisation of the molecular pathways for two chromosomal disorders. Ehrhart F, Janssen KJM, Coort SL, Evelo CT, Curfs LMG. World J Biol Psychiatry. 2019 Nov;20(9):670–82. PubMed Europe PMC Scholia
- γ-Tubulin has a conserved intrinsic property of self-polymerization into double stranded filaments and fibrillar networks. Chumová J, Trögelová L, Kourová H, Volc J, Sulimenko V, Halada P, et al. Biochim Biophys Acta Mol Cell Res. 2018 May;1865(5):734–48. PubMed Europe PMC Scholia