15q24 copy number variation (Homo sapiens)

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61135413721081291chr15:72900171crosslinks and stabilizes collagensand elastinsdirects STOM from plasma membrane tolate endosomeschr15:78151253exact functionunknownpart of inhibitorysynapsiscell in the pacemakerarea of the heartT cell responseNEIL1D-glucoseODF3L1BBS4HCN4FAM219BMPISTOML1ISL2EDC3IMP3RGMBLMAN1LSCAPERMIR4313SCAMP2C15orf39ISLRNRG4MEI4K+ADPGKMIR4513HIGD2BNPTNBMP7FBXW7C15orf27SNX33STOMETFAPTK2SIN3AXKR8BBS7FBXO22INSYN1CYP1A1UBL7CYP1A2D-glucose 6-phosphateCDK2PMLRPP25PPCDCBBS9GOLGA6ACSKANKRD31BMP4ULK3UBE2Q2RGMABBS2COX5AISLR2cAMPBMP2MIR3713BBS1TREML2MIR631ATP2B1FBLN5LINGO1SNUPNTBC1D21ADPGOLGA6DPEAK1BMP6BBS4GOLGA6CCD276TTC8ARID3BCSPG4CLK3MAN2C1RCN2LOXL1BBSome complexCCDC33REC114PTPN9SEMA7ABBS5TSPAN3COMMD4BBIP1HMG20ACYP11A1STRA6AMPIHO1NEO1CPLX3SCAMP5GOLGA6BPSTPIP1functionunknownpossibly 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
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  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
  7. Su X, Driscoll K, Yao G, Raed A, Wu M, Beales PL, Zhou J; ''Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.''; Hum Mol Genet, 2014 PubMed Europe PMC Scholia
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History

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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)
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)
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)
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)
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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