5q35 copy number variation (Homo sapiens)

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27114871972218292322111111242735, 6, 13, 1525282421211, 1720826143101216May play a role in cell-cell adhesion and contact inhibitionATP-dependent RNA helicaseMay function as a scaffold on which the coordinatedassembly of proteins can occurRegulates G protein-coupled receptor signaling cascadesUbiquitin-binding proteinAccumulationCatalysismay bind to miRNA hairpinsRequired for actin polymerization at immunological synapses, and for the recruitment of the chemokine receptor CXCR4In T cellsFacilitates ribosome bindingAggregationRenal brush border membraneUbiquitinatedLow affinityLEGENDMay be involved in the regulation of neuronalsurvival, differentiation and axonal outgrowthStimulationNeurite outgrowthFunction unknownBindingFunction unknownchr5:175,720,924May be involved in autophagy-related processesInhibitionPhosphorylatedDesensitization and internalizationRecognizes the core sequence 5'-CAC[GA]TG-3'Function unknownIn primary Th cellsBinds to actin and affects thestructure of the cytoskeletonBiosynthesis of the tetrasaccharide linkageregion of proteoglycansActin cytoskeleton-organizing protein that plays a role in the formation of cell projectionsHigh affinityacts as a H3K27 mimicincreases selectively H3K27me3 when knocked outLipid droplet degradationLiposomeConversionMitochondrial apoptosisphosphatidic acidsARFGAP2Coagulation cascade6-HydroxydopaminedsDNAUIMC1USH1CIGF-1 signalingPRR7JNK singaling pahwayMXD3GNAI3BMP6 signaling pathwayKDM6BPhosphatidylinositol 4-phosphateHIGD2ADBN1D-Glucose 6-phosphateMIR4281HK3T cell receptor signaling pathwayNOP16PhosphateCOX4I1NSD1MT-CO1Na+PIK3R1O-glycansABL1PRELID1MYCGNAI2TMED9GRB2KIAA1191GAB1SOS1PTPRN2Ca2+DOK3MYO7BBRCA1TMED2RGS14Secretory lectin pathwayABHD5LMAN2ZNF346-IT1NELFB7-methylguanosine-containing mRNA cap F12High-mannose N-glycan groupN-acetyl-D-galactosamineFAF2MAXPrimary bile acid biosynthesisBARD1D-fructoseH2AMIR1271COX7A1PolyprolineSIMC1CDHR5Protein ubiquitinationCOX6CdsRNAGPRIN1ZNF346Histone 3ssRNAPFN3HIC2RNF44ARL10COX8AUNC5AFAM193BANKS4BPTPN2PRR7-AS1RAB24COX6B1D-glucoseTRIAP1TSPAN17SLC34A1INPP5DFRS2Phosphatidylinositol 4,5-bisphosphateG protein-coupled receptorsHIP1ApoptosisGRK6H2AXCAPN3GNAI1RN7SL562PB4GALT7SNCBCOX5BPLCG1RN7SL684PFGFR4Inositol 1,4,5-trisphosphateCLTBPDLIM7cardiolipinsCOX7CPNPLA2hsa-miR-654-5pJUNStaurosporineCOX5ACOX7BTMED10Canonical NF-kB pathwayEEDNTN1HIP1RIGF1RD-fructose-6-phosphateMT-CO2Phosphatidylinositol 3-phosphateMT-CO3Netrin signaling pathwayDDX41SNCACOX6A1EIF4E1B10Controls the packing of microvilli at the apical membrane of epithelial cellsCDHR5Regulates maturationADAM10HIGD2ACDHR2CDHR2Function 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 receptorsPJUNJUNJUNPUApoptosisPUMethylatedMchr5:175,720,924261449


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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
6-HydroxydopamineMetaboliteCHEBI:78741 (ChEBI)
7-methylguanosine-containing mRNA cap
ABHD5GeneProductENSG00000011198 (Ensembl)
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)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
Canonical NF-kB pathwayPathwayWP4562 (WikiPathways)
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)
EEDGeneProductENSG00000074266 (Ensembl)
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)
HIC2GeneProductENSG00000169635 (Ensembl)
HIGD2AGeneProductENSG00000146066 (Ensembl)
HIP1GeneProductENSG00000127946 (Ensembl)
HIP1RGeneProductENSG00000130787 (Ensembl)
HK3GeneProductENSG00000160883 (Ensembl)
High-mannose N-glycan groupMetaboliteCHEBI:156208 (ChEBI)
Histone 3GeneProductENSG00000163041 (Ensembl)
IGF-1 signalingPathwayWP2892 (WikiPathways)
IGF1RGeneProductENSG00000140443 (Ensembl)
INPP5DGeneProductENSG00000168918 (Ensembl)
Inositol 1,4,5-trisphosphateMetaboliteCHEBI:16595 (ChEBI)
JNK singaling pahwayPathway
JUNGeneProductENSG00000177606 (Ensembl)
KDM6BGeneProductENSG00000132510 (Ensembl) JMJD3
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)
Mitochondrial apoptosisPathwaymap04210 (KEGG Pathway)
N-acetyl-D-galactosamineMetaboliteCHEBI:62678 (ChEBI)
NELFBGeneProductENSG00000188986 (Ensembl)
NOP16GeneProductENSG00000048162 (Ensembl)
NSD1GeneProductENSG00000165671 (Ensembl)
NTN1GeneProductENSG00000065320 (Ensembl)
Na+MetaboliteCHEBI:29101 (ChEBI)
Netrin signaling pathwayPathwayWP4747 (WikiPathways)
O-glycansMetaboliteCHEBI:59521 (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)
PTPRN2GeneProductENSG00000155093 (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)
Protein ubiquitinationPathwayWP4125 (WikiPathways)
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)
ZNF346-IT1GeneProductENSG00000251666 (Ensembl)
ZNF346GeneProductENSG00000113761 (Ensembl)
cardiolipinsMetaboliteCHEBI:28494 (ChEBI)
dsDNAMetaboliteCHEBI:4705 (ChEBI)
dsRNARna
hsa-miR-654-5pRnaMIMAT0003330 (miRBase mature sequence)
phosphatidic acidsMetaboliteCHEBI:16337 (ChEBI)
ssRNARna

Annotated Interactions

No annotated interactions

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