15q24 copy number variation (Homo sapiens)

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1515142935138615710114121chr15:78151253axon extensionneuronal developmentcrosslinks and stabilizes collagensand elastinschr15:72900171part of inhibitorysynapsiscell in the pacemakerarea of the heartGolgin variationexact function unknownexact functionunknowndirects STOM from plasma membrane tolate endosomesformation ofPML-nuclear bodiesSUMOylationT cell response1615MIR4513BBS4SCAMP5BBS2BMP2ATP2B1CYP11A1CCDC33K+ANKRD31BBSome complexSTOMMIR631FAM219BPSTPIP1TREML2MAN2C1PPCDCSTRA6EDC3ISLRGOLGA6DBBS4BBS5CD276BBS7RAB3AMEI4MIR3713BMP4COMMD4COX5ASTOML1XKR8RGMBNEIL1HCN4RCN2ULK3PMLFBXO22GOLGA6CBBIP1TBC1D21GOLGA6BREC114D-glucose 6-phosphateBBS1UBL7D-glucoseCLK3UBE2Q2FBLN5PTK2TTC8LOXL1TP53C15orf39ADPSCAPERGOLGA6ASEMA7AHMG20ACHEK2SIN3AC15orf27IHO1FBXW7LMAN1LBMP6RGMAINSYN1ODF3L1MPITSPAN3CYP1A2SNX33LINGO1ISL2MDM2CYP1A1cAMPETFAAMPRPP25CPLX3PTPN9ISLR2ADPGKPEAK1SCAMP2NRG4IMP3CSKMIR4313CSPG4NEO1HIGD2BBBS9BMP7ARID3BNPTNCDK2SNUPNfunctionunknownpossibly pseudogeneK+96


Description

15q24 - under construction

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Bibliography

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  1. Gong D, Chi X, Ren K, Huang G, Zhou G, Yan N, Lei J, Zhou Q; ''Structure of the human plasma membrane Ca(2+)-ATPase 1 in complex with its obligatory subunit neuroplastin.''; Nat Commun, 2018 PubMed Europe PMC Scholia
  2. Suzuki J, Imanishi E, Nagata S; ''Xkr8 phospholipid scrambling complex in apoptotic phosphatidylserine exposure.''; Proc Natl Acad Sci U S A, 2016 PubMed Europe PMC Scholia
  3. Thorleifsson G, Magnusson KP, Sulem P, Walters GB, Gudbjartsson DF, Stefansson H, Jonsson T, Jonasdottir A, Stefansdottir G, Masson G, Hardarson GA, Petursson H, Arnarsson A, Motallebipour M, Wallerman O, Wadelius C, Gulcher JR, Thorsteinsdottir U, Kong A, Jonasson F, Stefansson K; ''Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.''; Science, 2007 PubMed Europe PMC Scholia
  4. Wang W, Dong J, Chen B, Du J, Kuang Y, Sun X, Fu J, Li B, Mu J, Zhang Z, Zhou Z, Lin Z, Wu L, Yan Z, Mao X, Li Q, He L, Wang L, Sang Q; ''Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest.''; J Med Genet, 2020 PubMed Europe PMC Scholia
  5. Mairhofer M, Steiner M, Salzer U, Prohaska R; ''Stomatin-like protein-1 interacts with stomatin and is targeted to late endosomes.''; J Biol Chem, 2009 PubMed Europe PMC Scholia
  6. Zhang W, MacDonald EM, Koepp DM; ''The stomatin-like protein SLP-1 and Cdk2 interact with the F-Box protein Fbw7-γ.''; PLoS One, 2012 PubMed Europe PMC Scholia
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  8. Hagihara M, Endo M, Hata K, Higuchi C, Takaoka K, Yoshikawa H, Yamashita T; ''Neogenin, a receptor for bone morphogenetic proteins.''; J Biol Chem, 2011 PubMed Europe PMC Scholia
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  12. Xu X, Vysotskaya ZV, Liu Q, Zhou L; ''Structural basis for the cAMP-dependent gating in the human HCN4 channel.''; J Biol Chem, 2010 PubMed Europe PMC Scholia
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History

CompareRevisionActionTimeUserComment
127199view14:23, 15 August 2023Fehrhartwork in progress
127195view09:00, 11 August 2023FehrhartNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
ADPMetabolite456216 (ChEBI)
ADPGKGeneProductENSG00000159322 (Ensembl)
AMPMetabolite456215 (ChEBI)
ANKRD31GeneProductENSG00000145700 (Ensembl)
ARID3BGeneProductENSG00000179361 (Ensembl)
ATP2B1GeneProductENSG00000070961 (Ensembl)
BBIP1GeneProductA8MTZ0 (Uniprot-TrEMBL)
BBS1GeneProductQ8NFJ9 (Uniprot-TrEMBL)
BBS2GeneProductQ9BXC9 (Uniprot-TrEMBL)
BBS4GeneProductENSG00000140463 (Ensembl)
BBS4GeneProductQ96RK4 (Uniprot-TrEMBL)
BBS5GeneProductQ8N3I7 (Uniprot-TrEMBL)
BBS7GeneProductQ8IWZ6 (Uniprot-TrEMBL)
BBS9GeneProductQ3SYG4 (Uniprot-TrEMBL)
BBSome complexComplexCPX-1908
BMP2GeneProductENSG00000125845 (Ensembl)
BMP4GeneProductENSG00000125378 (Ensembl)
BMP6GeneProductENSG00000153162 (Ensembl)
BMP7GeneProductENSG00000101144 (Ensembl)
C15orf27GeneProductENSG00000169758 (Ensembl)
C15orf39GeneProductENSG00000167173 (Ensembl)
CCDC33GeneProductENSG00000140481 (Ensembl)
CD276GeneProductENSG00000103855 (Ensembl) B7-H3
CDK2GeneProductENSG00000123374 (Ensembl)
CHEK2GeneProductENSG00000183765 (Ensembl)
CLK3GeneProductENSG00000179335 (Ensembl)
COMMD4GeneProductENSG00000140365 (Ensembl)
COX5AGeneProductENSG00000178741 (Ensembl)
CPLX3GeneProductENSG00000213578 (Ensembl)
CSKGeneProductENSG00000103653 (Ensembl)
CSPG4GeneProductENSG00000173546 (Ensembl)
CYP11A1GeneProductENSG00000140459 (Ensembl)
CYP1A1GeneProductENSG00000140465 (Ensembl)
CYP1A2GeneProductENSG00000140505 (Ensembl)
D-glucose 6-phosphateMetabolite61548 (ChEBI)
D-glucoseMetabolite4167 (ChEBI)
EDC3GeneProductENSG00000179151 (Ensembl)
ETFAGeneProductENSG00000140374 (Ensembl)
FAM219BGeneProductENSG00000178761 (Ensembl)
FBLN5GeneProductENSG00000140092 (Ensembl)
FBXO22GeneProductENSG00000167196 (Ensembl)
FBXW7GeneProductENSG00000109670 (Ensembl)
GOLGA6AGeneProductENSG00000159289 (Ensembl)
GOLGA6BGeneProductENSG00000215186 (Ensembl)
GOLGA6CGeneProductENSG00000167195 (Ensembl)
GOLGA6DGeneProductENSG00000140478 (Ensembl)
HCN4GeneProductENSG00000138622 (Ensembl)
HIGD2BGeneProductENSG00000175202 (Ensembl)
HMG20AGeneProductENSG00000140382 (Ensembl)
IHO1GeneProductENSG00000173421 (Ensembl)
IMP3GeneProductENSG00000177971 (Ensembl)
INSYN1GeneProductENSG00000205363 (Ensembl) C15orf59
ISL2GeneProductENSG00000159556 (Ensembl)
ISLR2GeneProductENSG00000167178 (Ensembl)
ISLRGeneProductENSG00000129009 (Ensembl)
K+MetaboliteCHEBI:29103 (ChEBI)
LINGO1GeneProductENSG00000169783 (Ensembl)
LMAN1LGeneProductENSG00000140506 (Ensembl)
LOXL1GeneProductENSG00000129038 (Ensembl)
MAN2C1GeneProductENSG00000140400 (Ensembl)
MDM2GeneProductENSG00000135679 (Ensembl)
MEI4GeneProductENSG00000269964 (Ensembl)
MIR3713GeneProductENSG00000266449 (Ensembl)
MIR4313GeneProductENSG00000261043 (Ensembl)
MIR4513GeneProductENSG00000264386 (Ensembl)
MIR631GeneProductENSG00000207636 (Ensembl)
MPIGeneProductENSG00000178802 (Ensembl)
NEIL1GeneProductENSG00000140398 (Ensembl)
NEO1GeneProductENSG00000067141 (Ensembl)
NPTNGeneProductENSG00000156642 (Ensembl)
NRG4GeneProductENSG00000169752 (Ensembl)
ODF3L1GeneProductENSG00000182950 (Ensembl)
PEAK1GeneProductENSG00000173517 (Ensembl)
PMLGeneProductENSG00000140464 (Ensembl)
PPCDCGeneProductENSG00000138621 (Ensembl)
PSTPIP1GeneProductENSG00000140368 (Ensembl)
PTK2GeneProductENSG00000169398 (Ensembl)
PTPN9GeneProductENSG00000169410 (Ensembl)
RAB3AGeneProductENSG00000105649 (Ensembl)
RCN2GeneProductENSG00000117906 (Ensembl)
REC114GeneProductENSG00000183324 (Ensembl) C15orf60
RGMAGeneProductENSG00000182175 (Ensembl)
RGMBGeneProductENSG00000174136 (Ensembl)
RPP25GeneProductENSG00000178718 (Ensembl)
SCAMP2GeneProductENSG00000140497 (Ensembl)
SCAMP5GeneProductENSG00000198794 (Ensembl)
SCAPERGeneProductENSG00000140386 (Ensembl)
SEMA7AGeneProductENSG00000138623 (Ensembl)
SIN3AGeneProductENSG00000169375 (Ensembl)
SNUPNGeneProductENSG00000169371 (Ensembl)
SNX33GeneProductENSG00000173548 (Ensembl)
STOMGeneProductENSG00000148175 (Ensembl)
STOML1GeneProductENSG00000067221 (Ensembl)
STRA6GeneProductENSG00000137868 (Ensembl)
TBC1D21GeneProductENSG00000167139 (Ensembl)
TP53GeneProductENSG00000141510 (Ensembl)
TREML2GeneProductENSG00000112195 (Ensembl)
TSPAN3GeneProductENSG00000140391 (Ensembl)
TTC8GeneProductQ8TAM2 (Uniprot-TrEMBL)
UBE2Q2GeneProductENSG00000140367 (Ensembl)
UBL7GeneProductENSG00000138629 (Ensembl)
ULK3GeneProductENSG00000140474 (Ensembl)
XKR8GeneProductENSG00000158156 (Ensembl)
cAMPMetaboliteCHEBI:17489 (ChEBI)

Annotated Interactions

SourceTargetTypeDatabase referenceComment
ADPAMPmim-conversion11460 (Rhea)
D-glucoseD-glucose 6-phosphatemim-conversion11460 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5410"
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