15q25 copy number variation (Homo sapiens)

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1419416611137194, 121013205, 167218Transcriptional regulatorCNS developmentprotein kinase involvedin cardiac developmentchr15:83219735unknown functionchr15:85722039cleaves N-terminal signal sequence when transporting proteins from cytoplasm to ER lumenregulates keratinocytes differentiating in squamous epithelia and hair folliclescelladds polyadenyl tailsto mRNA 3'-UTRfibronectinexact function unknownmicrotubule mediatedER to Golgi transport1, 9, 15, 178314HTTAP3S1ZNF592AP3B2AdenosineCytidineHOMER2SHANK1Neuronal AP-3 Adaptor complexSYNJ1SLC2A1AP3S1AP3B2O-phospho-L-serine residueNMBO-phospho-L-threonine residueRYR1FSD2AP3B2BTBD1DNM3G alpha (q) signaling eventsGRM1Signal peptidase complexMIR4515NMBRADPRAMACThymidineAP3D1ALPK3RNMTUridineL-serine residue RYR2Actin-related protein 2/3 complexAP3M2L-threonine residue WHAMMcAMPTM6SF1PDE8ASPCS1AMPAP3M2C15orf40AGAP2ADAMTSL3SPCS3RAF1SLC28A1GRM5ATPSHANK3UBE2Q2LTENT4BCPEB1SH3GL3ZSCAN2ITPR1GOLGA6L4EGFSPCS2WDR73BNC1AP3D1TOP1SEC11A444444RAMAC4RNMTunknown functionunknown functionunknown functionunknown functiongolginunknown functionunknown functionSEC11AAdenosineThymidineCytidineUridine


Description

15q25.2 or generally 15q25 copy number variations are rare genetic disorders that cause neuropsychiatric disorders, developmental delay and cardiac abnormalities. The exact chromosomal position for this pathway (chr15:83219735-85722039, GRCh37) was taken from Kirov et al. 2014 10.1016/j.biopsych.2013.07.022 and literature cited there.

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Ontology Terms

 

Bibliography

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  1. Almomani R, Verhagen JM, Herkert JC, Brosens E, van Spaendonck-Zwarts KY, Asimaki A, van der Zwaag PA, Frohn-Mulder IM, Bertoli-Avella AM, Boven LG, van Slegtenhorst MA, van der Smagt JJ, van IJcken WF, Timmer B, van Stuijvenberg M, Verdijk RM, Saffitz JE, du Plessis FA, Michels M, Hofstra RM, Sinke RJ, van Tintelen JP, Wessels MW, Jongbloed JD, van de Laar IM; ''Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.''; J Am Coll Cardiol, 2016 PubMed Europe PMC Scholia
  2. Wang H, Yan Z, Yang S, Cai J, Robinson H, Ke H; ''Kinetic and structural studies of phosphodiesterase-8A and implication on the inhibitor selectivity.''; Biochemistry, 2008 PubMed Europe PMC Scholia
  3. Nicolas E, Poitelon Y, Chouery E, Salem N, Levy N, Mégarbané A, Delague V; ''CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.''; Eur J Hum Genet, 2010 PubMed Europe PMC Scholia
  4. Tu JC, Xiao B, Yuan JP, Lanahan AA, Leoffert K, Li M, Linden DJ, Worley PF; ''Homer binds a novel proline-rich motif and links group 1 metabotropic glutamate receptors with IP3 receptors.''; Neuron, 1998 PubMed Europe PMC Scholia
  5. Varshney D, Petit AP, Bueren-Calabuig JA, Jansen C, Fletcher DA, Peggie M, Weidlich S, Scullion P, Pisliakov AV, Cowling VH; ''Molecular basis of RNA guanine-7 methyltransferase (RNMT) activation by RAM.''; Nucleic Acids Res, 2016 PubMed Europe PMC Scholia
  6. Cestra G, Castagnoli L, Dente L, Minenkova O, Petrelli A, Migone N, Hoffmüller U, Schneider-Mergener J, Cesareni G; ''The SH3 domains of endophilin and amphiphysin bind to theproline-rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity.''; J Biol Chem, 1999 PubMed Europe PMC Scholia
  7. Campellone KG, Webb NJ, Znameroski EA, Welch MD; ''WHAMM is an Arp2/3 complex activator that binds microtubules and functions in ER to Golgi transport.''; Cell, 2008 PubMed Europe PMC Scholia
  8. Tseng H, Green H; ''Association of basonuclin with ability of keratinocytes to multiply and with absence of terminal differentiation.''; J Cell Biol, 1994 PubMed Europe PMC Scholia
  9. Jaouadi H, Kraoua L, Chaker L, Atkinson A, Delague V, Levy N, Benkhalifa R, Mrad R, Abdelhak S, Zaffran S; ''Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.''; J Hum Genet, 2018 PubMed Europe PMC Scholia
  10. Afroz T, Skrisovska L, Belloc E, Guillén-Boixet J, Méndez R, Allain FH; ''A fly trap mechanism provides sequence-specific RNA recognition by CPEB proteins.''; Genes Dev, 2014 PubMed Europe PMC Scholia
  11. Shin J, Paek KY, Ivshina M, Stackpole EE, Richter JD; ''Essential role for non-canonical poly(A) polymerase GLD4 in cytoplasmic polyadenylation and carbohydrate metabolism.''; Nucleic Acids Res, 2017 PubMed Europe PMC Scholia
  12. Feng W, Tu J, Yang T, Vernon PS, Allen PD, Worley PF, Pessah IN; ''Homer regulates gain of ryanodine receptor type 1 channel complex.''; J Biol Chem, 2002 PubMed Europe PMC Scholia
  13. Ohki-Hamazaki H; ''Neuromedin B.''; Prog Neurobiol, 2000 PubMed Europe PMC Scholia
  14. Liaci AM, Steigenberger B, Telles de Souza PC, Tamara S, Gröllers-Mulderij M, Ogrissek P, Marrink SJ, Scheltema RA, Förster F; ''Structure of the human signal peptidase complex reveals the determinants for signal peptide cleavage.''; Mol Cell, 2021 PubMed Europe PMC Scholia
  15. Phelan DG, Anderson DJ, Howden SE, Wong RC, Hickey PF, Pope K, Wilson GR, Pébay A, Davis AM, Petrou S, Elefanty AG, Stanley EG, James PA, Macciocca I, Bahlo M, Cheung MM, Amor DJ, Elliott DA, Lockhart PJ; ''ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.''; Eur Heart J, 2016 PubMed Europe PMC Scholia
  16. Gonatopoulos-Pournatzis T, Dunn S, Bounds R, Cowling VH; ''RAM/Fam103a1 is required for mRNA cap methylation.''; Mol Cell, 2011 PubMed Europe PMC Scholia
  17. Çağlayan AO, Sezer RG, Kaymakçalan H, Ulgen E, Yavuz T, Baranoski JF, Bozaykut A, Harmanci AS, Yalcin Y, Youngblood MW, Yasuno K, Bilgüvar K, Gunel M; ''ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.''; Cold Spring Harb Mol Case Stud, 2017 PubMed Europe PMC Scholia
  18. Xu L, Yang L, Hashimoto K, Anderson M, Kohlhagen G, Pommier Y, D'Arpa P; ''Characterization of BTBD1 and BTBD2, two similar BTB-domain-containing Kelch-like proteins that interact with Topoisomerase I.''; BMC Genomics, 2002 PubMed Europe PMC Scholia
  19. Brown KM, Day JP, Huston E, Zimmermann B, Hampel K, Christian F, Romano D, Terhzaz S, Lee LC, Willis MJ, Morton DB, Beavo JA, Shimizu-Albergine M, Davies SA, Kolch W, Houslay MD, Baillie GS; ''Phosphodiesterase-8A binds to and regulates Raf-1 kinase.''; Proc Natl Acad Sci U S A, 2013 PubMed Europe PMC Scholia
  20. Sittler A, Wälter S, Wedemeyer N, Hasenbank R, Scherzinger E, Eickhoff H, Bates GP, Lehrach H, Wanker EE; ''SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polygln-containing protein aggregates.''; Mol Cell, 1998 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
129009view12:41, 4 March 2024PklemmerRemoved line breaks from actin-related protein 2/3 complex and neuronal ap-3 adaptor complex labels
127198view00:11, 15 August 2023AlexanderPicoremoved tab from description
127167view19:23, 8 August 2023FehrhartOntology Term : 'chromosome 15q25 deletion syndrome' added !
127166view19:23, 8 August 2023FehrhartOntology Term : 'disease pathway' added !
127165view19:22, 8 August 2023FehrhartModified description
127164view19:19, 8 August 2023FehrhartNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
ADAMTSL3GeneProductENSG00000156218 (Ensembl)
ADPMetaboliteCHEBI:456216 (ChEBI)
AGAP2GeneProductENSG00000135439 (Ensembl)
ALPK3GeneProductENSG00000136383 (Ensembl)
AMPMetabolite456215 (ChEBI)
AP3B2GeneProductENSG00000103723 (Ensembl)
AP3B2GeneProductQ13367 (Uniprot-TrEMBL)
AP3D1GeneProductO14617 (Uniprot-TrEMBL)
AP3M2GeneProductP53677 (Uniprot-TrEMBL)
AP3S1GeneProductQ92572 (Uniprot-TrEMBL)
ATPMetaboliteCHEBI:30616 (ChEBI)
Actin-related protein 2/3 complexComplexCPX-2490Complex portal
AdenosineMetaboliteCHEBI:16335 (ChEBI)
BNC1GeneProductENSG00000169594 (Ensembl)
BTBD1GeneProductENSG00000064726 (Ensembl)
C15orf40GeneProductENSG00000169609 (Ensembl)
CPEB1GeneProductENSG00000214575 (Ensembl)
CytidineMetaboliteCHEBI:17562 (ChEBI)
DNM3GeneProductENSG00000197959 (Ensembl)
EGFGeneProductENSG00000138798 (Ensembl)
FSD2GeneProductENSG00000186628 (Ensembl)
G alpha (q) signaling eventsPathwayWP4424 (WikiPathways)
GOLGA6L4GeneProductENSG00000184206 (Ensembl)
GRM1GeneProductENSG00000152822 (Ensembl)
GRM5GeneProductENSG00000168959 (Ensembl)
HOMER2GeneProductENSG00000103942 (Ensembl)
HTTGeneProductENSG00000197386 (Ensembl)
ITPR1GeneProductENSG00000150995 (Ensembl)
L-serine residue Metabolite29999 (ChEBI)
L-threonine residue Metabolite30013 (ChEBI)
MIR4515GeneProductENSG00000263643 (Ensembl)
NMBGeneProductENSG00000197696 (Ensembl)
NMBRGeneProductENSG00000135577 (Ensembl)
Neuronal AP-3 Adaptor complexComplexCPX-5055Complex portal
O-phospho-L-serine residueMetabolite83421 (ChEBI)
O-phospho-L-threonine residueMetabolite61977 (ChEBI)
PDE8AGeneProductENSG00000073417 (Ensembl)
RAF1GeneProductENSG00000132155 (Ensembl)
RAMACGeneProductENSG00000169612 (Ensembl) FAM103A1
RNMTGeneProductENSG00000101654 (Ensembl)
RYR1GeneProductENSG00000196218 (Ensembl)
RYR2GeneProductENSG00000198626 (Ensembl)
SEC11AGeneProductENSG00000140612 (Ensembl)
SH3GL3GeneProductENSG00000140600 (Ensembl)
SHANK1GeneProductENSG00000161681 (Ensembl)
SHANK3GeneProductENSG00000251322 (Ensembl)
SLC28A1GeneProductENSG00000156222 (Ensembl)
SLC2A1GeneProductENSG00000117394 (Ensembl) GLUT1
SPCS1GeneProductENSG00000114902 (Ensembl)
SPCS2GeneProductENSG00000118363 (Ensembl)
SPCS3GeneProductENSG00000129128 (Ensembl)
SYNJ1GeneProductENSG00000159082 (Ensembl)
Signal peptidase complexComplexCPX-2847
TENT4BGeneProductENSG00000121274 (Ensembl) GLD4
TM6SF1GeneProductENSG00000136404 (Ensembl)
TOP1GeneProductENSG00000198900 (Ensembl)
ThymidineMetaboliteCHEBI:17748 (ChEBI)
UBE2Q2LGeneProductENSG00000259511 (Ensembl)
UridineMetaboliteCHEBI:16704 (ChEBI)
WDR73GeneProductENSG00000177082 (Ensembl)
WHAMMGeneProductENSG00000156232 (Ensembl)
ZNF592GeneProductENSG00000166716 (Ensembl)
ZSCAN2GeneProductENSG00000176371 (Ensembl)
cAMPMetabolite58165 (ChEBI)

Annotated Interactions

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SourceTargetTypeDatabase referenceComment
ATPADPmim-conversion17989 (Rhea)
AdenosineAdenosineArrow69927 (Rhea)
CytidineCytidineArrow69895 (Rhea)
L-serine residue O-phospho-L-serine residuemim-conversion17989 (Rhea)
L-threonine residue O-phospho-L-threonine residuemim-conversion46608 (Rhea)
ThymidineThymidineArrow69891 (Rhea)
UridineUridineArrow69887 (Rhea)
cAMPAMPmim-conversion25277 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5408"
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