5q35 copy number variation (Homo sapiens)

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81321131519201216111365, 71743, 14, 21, 221818192316232010913612Function unknownInhibitionCatalysisRequired for actin polymerization at immunological synapses, and for the recruitment of the chemokine receptor CXCR4Neurite outgrowthAccumulationMay be involved in neurite outgrowthStimulationPhosphorylatedFunction unknownIs the major protein of the polyhedral coat of coated pits and vesiclesIn T cellsBindingPotential NADPH-dependent oxidoreductaseConversionMay play a role in cell-cell adhesion and contact inhibitionHigh affinityLow affinityFunction unknownMay be involved in autophagy-related processesUbiquitin-binding proteinRecognizes the core sequence 5'-CAC[GA]TG-3'May be involved in the regulation of neuronalsurvival, differentiation and axonal outgrowthActin cytoskeleton-organizing protein that plays a role in the formation of cell projectionsFacilitates ribosome bindingLEGENDmay bind to miRNA hairpinsLiposomeIn primary Th cellsRegulates G protein-coupled receptor signaling cascadesBinds to actin and affects thestructure of the cytoskeletonLipid droplet degradationDesensitization and internalizationMay function as a scaffold on which the coordinatedassembly of proteins can occurAggregationUbiquitinatedATP-dependent RNA helicaseBiosynthesis of the tetrasaccharide linkageregion of proteoglycanschr5:175,720,924Renal brush border membraneTMED10MYO7BNTN1TMED2COX5AT cell receptor signaling pathwayDDX417-methylguanosine-containing mRNA cap MT-CO1Phosphatidylinositol 4-phosphateH2AB4GALT7PhosphateHistone 3ARL10Primary bile acid biosynthesisCOX5BCOX4I1MAXD-fructose-6-phosphateMT-CO3IGF-1 signalingJNK singaling pahwayDBN1FGFR4PRELID1TMED9GPRIN1MYCMXD3SIMC1DOK3PFN3Mitochondrial apoptosisPhosphatidylinositol 3-phosphateD-fructoseRAB24HK3COX7CPRR7-AS1CLTBPDLIM7EIF4E1BCOX6A1USH1CGRK6ZNF346-IT1Coagulation cascadecardiolipinsUNC5ARN7SL562PH2AXdsRNAARFGAP2COX6B1F12CDHR2CDHR5ABL1Na+PNPLA2TSPAN17ApoptosisWaterGRB2RN7SL684PO-glycansssRNAFAM193BANKS4BDioxygendsDNANOP16HIGD2AUIMC1Secretory lectin pathwayGNAI3NSD1D-glucoseSNCACOX7A1SLC34A1phosphatidic acidsGNAI2RGS14SNCBMT-CO2Misfolded endoplasmic reticulum proteinsPhosphatidylinositol 4,5-bisphosphateFRS2ZNF346Netrin signaling pathwayPIK3R1CAPN3N-acetyl-D-galactosamineJUNBRCA1OxidopamineG protein-coupled receptorsPolyprolineCOX8ACOX6CINPP5DPLCG1TRIAP1FAF2KIAA1191StaurosporineD-Glucose 6-phosphateCOX7BMIR4281PTPN2RNF44GAB1GNAI1BMP6 signaling pathwayPRR7Inositol 1,4,5-trisphosphateMIR1271SOS1BARD1IGF1RLMAN2HydronHigh-mannose N-glycan group1818Controls the packing of microvilli at the apical membrane of epithelial cellsImportant in microvilli and epithelialbrush border differentiationCDHR5Regulates maturationADAM10Function unknownFunction unknownHIGD2AHydronHydronHydronWaterMisfolded endoplasmic reticulum proteinsUFunction unknownCDHR2CDHR2Function unknownFunction unknownFRS2PLCG1PPMAP kinase signaling pathwayPI3K-AKT1 signaling pathwayCell proliferation, differentiation,and migrationSecondary bile acid biosynthesisHistone 3MMPRELID1phosphatidic acidsLiposomephosphatidic acidsGNAI3MAP kinase signaling pathwayNa+Na+PhosphateNa+Na+Na+G protein-coupled receptorsPJUNJUNJUNPUApoptosisPUMethylatedM


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Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
127451view18:32, 3 October 2023Khanspersconnected one interaction and updated legend from interactions to graphical lines
127116view22:26, 3 August 2023AlexanderPicofixed characters in bibliography
127093view10:48, 2 August 2023FehrhartOntology Term : 'disease pathway' added !
127092view10:48, 2 August 2023FehrhartOntology Term : 'Sotos syndrome' added !
127091view10:47, 2 August 2023FehrhartModified description
127090view10:42, 2 August 2023Fehrhartcorrection
127089view10:00, 2 August 2023Fehrhartcorrection and update in progress
127084view14:01, 1 August 2023Fehrhartupdate and correction in progress
127083view10:24, 1 August 2023Fehrhartcorrecton and update in progress
127074view13:02, 27 July 2023Fehrhartcorrection in progress
127073view12:20, 27 July 2023Fehrhartcorrection in progress
127072view11:33, 27 July 2023Fehrhartcorrection in progress
127071view11:25, 27 July 2023Fehrhartcorrections
127070view10:18, 27 July 2023Fehrhartcorrections
127069view09:49, 27 July 2023Fehrhartcorrections
126928view06:05, 7 July 2023EgonwTyped a number of datanodes as metabolite
126854view20:43, 27 June 2023Ewoud
126850view09:41, 27 June 2023Ewoud
126848view09:31, 27 June 2023Ewoud
126676view16:03, 11 June 2023Ewoudfiller
126675view16:03, 11 June 2023Ewoudfiller
126674view16:02, 11 June 2023EwoudNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
GeneProduct
7-methylguanosine-containing mRNA cap
ABL1GeneProductENSG00000097007 (Ensembl)
ADAM10GeneProductENSG00000137845 (Ensembl)
ANKS4BGeneProductENSG00000175311 (Ensembl)
ARFGAP2GeneProductENSG00000149182 (Ensembl)
ARL10GeneProductENSG00000175414 (Ensembl)
ApoptosisPathwaymap04210 (KEGG Pathway)
B4GALT7GeneProductENSG00000027847 (Ensembl)
BARD1GeneProductENSG00000138376 (Ensembl)
BMP6 signaling pathwayPathway
BRCA1GeneProductENSG00000012048 (Ensembl)
CAPN3GeneProductENSG00000092529 (Ensembl)
CDHR2GeneProductENSG00000074276 (Ensembl)
CDHR5GeneProductENSG00000099834 (Ensembl)
CLTBGeneProductENSG00000175416 (Ensembl)
COX4I1GeneProductENSG00000131143 (Ensembl)
COX5AGeneProductENSG00000178741 (Ensembl)
COX5BGeneProductENSG00000135940 (Ensembl)
COX6A1GeneProductENSG00000111775 (Ensembl)
COX6B1GeneProductENSG00000126267 (Ensembl)
COX6CGeneProductENSG00000164919 (Ensembl)
COX7A1GeneProductENSG00000161281 (Ensembl)
COX7BGeneProductENSG00000131174 (Ensembl)
COX7CGeneProductENSG00000127184 (Ensembl)
COX8AGeneProductENSG00000176340 (Ensembl)
Cell proliferation, differentiation, and migrationPathway
Coagulation cascadePathwaymap04610 (KEGG Pathway)
D-Glucose 6-phosphateMetaboliteCHEBI:4170 (ChEBI)
D-fructose-6-phosphateMetaboliteQ32039197 (Wikidata)
D-fructoseMetaboliteCHEBI:15824 (ChEBI)
D-glucoseMetaboliteCHEBI:17634 (ChEBI)
DBN1GeneProductENSG00000113758 (Ensembl)
DDX41GeneProductENSG00000183258 (Ensembl)
DOK3GeneProductENSG00000146094 (Ensembl)
DioxygenMetaboliteCHEBI:15379 (ChEBI)
EIF4E1BGeneProductENSG00000175766 (Ensembl)
F12GeneProductENSG00000131187 (Ensembl)
FAF2GeneProductENSG00000113194 (Ensembl)
FAM193BGeneProductENSG00000146067 (Ensembl)
FGFR4GeneProductENSG00000160867 (Ensembl)
FRS2GeneProductENSG00000166225 (Ensembl)
G protein-coupled receptors
GAB1GeneProductENSG00000109458 (Ensembl)
GNAI1GeneProductENSG00000127955 (Ensembl)
GNAI2GeneProductENSG00000114353 (Ensembl)
GNAI3GeneProductENSG00000065135 (Ensembl)
GPRIN1GeneProductENSG00000169258 (Ensembl)
GRB2GeneProductENSG00000177885 (Ensembl)
GRK6GeneProductENSG00000198055 (Ensembl)
H2AGeneProduct
H2AXGeneProductENSG00000188486 (Ensembl)
HIGD2AGeneProductENSG00000146066 (Ensembl)
HK3GeneProductENSG00000160883 (Ensembl)
High-mannose N-glycan groupMetaboliteCHEBI:156208 (ChEBI)
Histone 3GeneProductENSG00000163041 (Ensembl)
HydronMetaboliteCHEBI:15378 (ChEBI)
IGF-1 signalingPathwayWP2892 (WikiPathways)
IGF1RGeneProductENSG00000140443 (Ensembl)
INPP5DGeneProductENSG00000168918 (Ensembl)
Inositol 1,4,5-trisphosphateMetaboliteCHEBI:16595 (ChEBI)
JNK singaling pahwayPathway
JUNGeneProductENSG00000177606 (Ensembl)
KIAA1191GeneProductENSG00000122203 (Ensembl)
LMAN2GeneProductENSG00000169223 (Ensembl)
MAP kinase signaling pathwayPathwaymap04010 (KEGG Pathway)
MAXGeneProductENSG00000125952 (Ensembl)
MIR1271GeneProductENSG00000221464 (Ensembl)
MIR4281GeneProductENSG00000266329 (Ensembl)
MT-CO1GeneProductENSG00000198804 (Ensembl)
MT-CO2GeneProductENSG00000198712 (Ensembl)
MT-CO3GeneProductENSG00000198938 (Ensembl)
MXD3GeneProductENSG00000213347 (Ensembl)
MYCMetaboliteQ27288190 (Wikidata)
MYO7BGeneProductENSG00000169994 (Ensembl)
Misfolded endoplasmic reticulum proteins
Mitochondrial apoptosisPathwaymap04210 (KEGG Pathway)
N-acetyl-D-galactosamineMetaboliteCHEBI:62678 (ChEBI)
NOP16GeneProductENSG00000048162 (Ensembl)
NSD1GeneProductENSG00000165671 (Ensembl)
NTN1GeneProductENSG00000065320 (Ensembl)
Na+MetaboliteCHEBI:29101 (ChEBI)
Netrin signaling pathwayPathwayWP4747 (WikiPathways)
O-glycansMetaboliteCHEBI:59521 (ChEBI)
OxidopamineMetaboliteCHEBI:78741 (ChEBI)
PDLIM7GeneProductENSG00000196923 (Ensembl)
PFN3GeneProductENSG00000196570 (Ensembl)
PI3K-AKT1 signaling pathwayPathwaymap04151 (KEGG Pathway)
PIK3R1GeneProductENSG00000145675 (Ensembl)
PLCG1GeneProductENSG00000124181 (Ensembl)
PNPLA2GeneProductENSG00000177666 (Ensembl)
PRELID1GeneProductENSG00000169230 (Ensembl)
PRR7-AS1GeneProductENSG00000246334 (Ensembl)
PRR7GeneProductENSG00000131188 (Ensembl)
PTPN2GeneProductENSG00000175354 (Ensembl)
PhosphateMetaboliteCHEBI:43474 (ChEBI)
Phosphatidylinositol 3-phosphateMetaboliteCHEBI:26034 (ChEBI)
Phosphatidylinositol 4,5-bisphosphateMetaboliteCHEBI:18348 (ChEBI)
Phosphatidylinositol 4-phosphateMetaboliteCHEBI:17526 (ChEBI)
PolyprolineMetaboliteCHEBI:8321 (ChEBI)
Primary bile acid biosynthesisPathwaymap00120 (KEGG Pathway)
RAB24GeneProductENSG00000169228 (Ensembl)
RGS14GeneProductENSG00000169220 (Ensembl)
RN7SL562PGeneProductENSG00000266089 (Ensembl)
RN7SL684PGeneProductENSG00000243959 (Ensembl)
RNF44GeneProductENSG00000146083 (Ensembl)
SIMC1GeneProductENSG00000170085 (Ensembl)
SLC34A1GeneProductENSG00000131183 (Ensembl)
SNCAGeneProductENSG00000145335 (Ensembl)
SNCBGeneProductENSG00000074317 (Ensembl)
SOS1GeneProductENSG00000115904 (Ensembl)
Secondary bile acid biosynthesisPathwaymap00121 (KEGG Pathway)
Secretory lectin pathwayPathway
StaurosporineMetaboliteCHEBI:57491 (ChEBI)
T cell receptor signaling pathwayPathwaymap04660 (KEGG Pathway)
TMED10GeneProductENSG00000170348 (Ensembl)
TMED2GeneProductENSG00000086598 (Ensembl)
TMED9GeneProductENSG00000184840 (Ensembl)
TRIAP1GeneProductENSG00000170855 (Ensembl)
TSPAN17GeneProductENSG00000048140 (Ensembl)
UIMC1GeneProductENSG00000087206 (Ensembl)
UNC5AGeneProductENSG00000113763 (Ensembl)
USH1CGeneProductENSG00000006611 (Ensembl)
WaterMetaboliteCHEBI:15377 (ChEBI)
ZNF346-IT1GeneProductENSG00000251666 (Ensembl)
ZNF346GeneProductENSG00000113761 (Ensembl)
cardiolipinsMetaboliteCHEBI:28494 (ChEBI)
dsDNAMetaboliteCHEBI:4705 (ChEBI)
dsRNARna
phosphatidic acidsMetaboliteCHEBI:16337 (ChEBI)
ssRNARna

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5380"