5q35 copy number variation (Homo sapiens)

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175, 191887231223318910132192104411226, 14, 16, 20171011101513Actin cytoskeleton-organizing protein that plays a role in the formation of cell projectionsBinds to actin and affects thestructure of the cytoskeletonNeurite outgrowthRegulates G protein-coupled receptor signaling cascadesFunction unknownAccumulationMay be involved in the regulation of neuronalsurvival, differentiation and axonal outgrowthmay bind to miRNA hairpinsRequired for actin polymerization at immunological synapses, and for the recruitment of the chemokine receptor CXCR4Low affinityFacilitates ribosome bindingLEGENDRenal brush border membraneAggregationPotential NADPH-dependent oxidoreductaseMay be involved in neurite outgrowthBindingStimulationHigh affinityMay play a role in cell-cell adhesion and contact inhibitionFunction unknownUbiquitinatedInhibitionMay function as a scaffold on which the coordinatedassembly of proteins can occurIs the major protein of the polyhedral coat of coated pits and vesiclesIn T cellsPhosphorylatedDesensitization and internalizationUbiquitin-binding proteinFunction unknownIn primary Th cellsCatalysischr5:175,720,924Biosynthesis of the tetrasaccharide linkageregion of proteoglycansRecognizes the core sequence 5'-CAC[GA]TG-3'ATP-dependent RNA helicaseLipid droplet degradationMay be involved in autophagy-related processesLiposomeConversionFGFR4PNPLA2ARFGAP2Phosphatidylinositol 4-phosphateOxidopaminePhosphatidylinositol 4,5-bisphosphateUIMC1CDHR5IGF-1 signalingF12ARL10GNAI1cardiolipinsNa+FAM193BPFN3Secretory lectin pathwayMT-CO1DBN1Misfolded endoplasmic reticulum proteinsD-Glucose 6-phosphateHK3T cell receptor signaling pathwayGPRIN1COX4I1HIGD2AdsRNAIGF1RMT-CO3COX6CABL1COX5BSOS1GNAI2ssRNAUSH1CTSPAN17GAB1PIK3R1PDLIM7CAPN3G protein-coupled receptorsTRIAP1PolyprolinePrimary bile acid biosynthesisRGS14JNK singaling pahwayCOX8AD-fructose-6-phosphateTMED107-methylguanosine-containing mRNA cap NSD1High-mannose N-glycan groupMXD3UNC5AFAF2Coagulation cascadeBARD1DDX41N-acetyl-D-galactosamineBRCA1KIAA1191SIMC1TMED2MT-CO2PRELID1BMP6 signaling pathwayZNF346Histone 3DOK3COX7CCDHR2RNF44NOP16Mitochondrial apoptosisPRR7PhosphateB4GALT7SNCBH2AD-glucosephosphatidic acidsCOX6A1SLC34A1COX7BSNCAPRR7-AS1Phosphatidylinositol 3-phosphateANKS4BRAB24GRK6H2AXO-glycansPTPN2PLCG1HydronTMED9JUNDioxygenINPP5DStaurosporineMIR1271RN7SL562PMYCCOX6B1LMAN2COX7A1FRS2RN7SL684PCOX5AGNAI3MYO7BNTN1Inositol 1,4,5-trisphosphateD-fructoseMAXCLTBdsDNAWaterNetrin signaling pathwayZNF346-IT1GRB2MIR4281ApoptosisEIF4E1B1717Controls 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 3PPPRELID1phosphatidic acidsLiposomephosphatidic acidsGNAI3MAP kinase signaling pathwayNa+Na+PhosphateNa+Na+Na+G protein-coupled receptorsPJUNJUNJUNPUApoptosisPU


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Bibliography

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History

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CompareRevisionActionTimeUserComment
134531view16:31, 22 July 2024EgonwAdded a missing datasource
134530view14:34, 22 July 2024EgonwRemoved template comments
134447view23:53, 21 July 2024EweitzOntology Term : 'disease of mental health' added !
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+CHEBI: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)
PhosphateCHEBI: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"
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