Entity Details

Primary name GIPC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO14908
EntryNameGIPC1_HUMAN
FullNamePDZ domain-containing protein GIPC1
TaxID9606
Evidenceevidence at protein level
Length333
SequenceStatuscomplete
DateCreated2001-10-18
DateModified2021-06-02

Ontological Relatives

GenesGIPC1

GO terms

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GOName
GO:0003779 actin binding
GO:0005102 signaling receptor binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005903 brush border
GO:0005938 cell cortex
GO:0006605 protein targeting
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007268 chemical synaptic transmission
GO:0008021 synaptic vesicle
GO:0012506 vesicle membrane
GO:0014047 glutamate secretion
GO:0016020 membrane
GO:0017022 myosin binding
GO:0030139 endocytic vesicle
GO:0030165 PDZ domain binding
GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway
GO:0031410 cytoplasmic vesicle
GO:0031647 regulation of protein stability
GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0032467 positive regulation of cytokinesis
GO:0042802 identical protein binding
GO:0043197 dendritic spine
GO:0043198 dendritic shaft
GO:0043542 endothelial cell migration
GO:0045296 cadherin binding
GO:0048023 positive regulation of melanin biosynthetic process
GO:0048167 regulation of synaptic plasticity
GO:0070062 extracellular exosome
GO:0098685 Schaffer collateral - CA1 synapse
GO:0098761 cellular response to interleukin-7
GO:0098978 glutamatergic synapse
GO:2000300 regulation of synaptic vesicle exocytosis

Subcellular Location

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Subcellular Location
Cytoplasm
Membrane

Domains

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DomainNameCategoryType
IPR001478 PDZ domainDomainDomain
IPR017379 PDZ domain-containing protein GIPC1/2/3FamilyFamily
IPR036034 PDZ superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618940 OMIMOculopharyngodistal myopathy 2 (OPDM2)A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM2 inheritance pattern is autosomal dominant. The disease may be caused by variants affecting the gene represented in this entry. GGC repeat expansions in the 5'-UTR ranging from 73 to 164 were reported in patients, compared with a normal range from 12 to 32 in unaffected individuals. Patient skeletal muscle showed similar protein levels to those of unaffected individuals.

Interactions

73 interactions

InteractorPartnerSourcesPublicationsLink
GIPC1_HUMANZN408_HUMANBioGRID, HPRD, IntAct15231747 details
GIPC1_HUMANTPBG_HUMANBioGRID, HPRD, MINT11798178 details
GIPC1_HUMANBCR_HUMANMINT15494376 details
GIPC1_HUMANSDC4_HUMANBioGRID, HPRD, MINT10911369 details
GIPC1_HUMANTYRP1_HUMANBioGRID, HPRD, MINT11441007 details
GIPC1_HUMANTGBR3_HUMANHPRD, MINT11546783 details
GIPC1_HUMANMYO6_HUMANBioGRID, DIP, HPRD, IntAct10198040 12857860 16908842 17353931 19855435 26971995 29467281 details
GIPC1_HUMANSH3B4_HUMANBioGRID, IntAct17353931 29467281 details
GIPC1_HUMANGSK3B_HUMANBioGRID, MINT21900206 details
GIPC1_HUMANPKHA2_HUMANBioGRID, IntAct29467281 32296183 details
GIPC1_HUMANDDIT3_HUMANBioGRID, DIP18330356 details
GIPC1_HUMANDT3UO_HUMANDIP18330356 details
GIPC1_HUMANARHGC_HUMANBioGRID, IntAct29467281 32203420 details
GIPC1_HUMANUNKL_HUMANIntAct32814053 details
GIPC1_HUMANKLF3_HUMANIntAct32814053 details
GIPC1_HUMANSCAPE_HUMANIntAct32814053 details
GIPC1_HUMANKLH20_HUMANIntAct32814053 details
GIPC1_HUMANARFG3_HUMANIntAct32814053 details
GIPC1_HUMANRYBP_HUMANIntAct32814053 details
GIPC1_HUMANBAHD1_HUMANIntAct32814053 details
GIPC1_HUMANSDCG8_HUMANIntAct32814053 details
GIPC1_HUMANNUDC_HUMANIntAct32814053 details
GIPC1_HUMANTI17B_HUMANIntAct32814053 details
GIPC1_HUMANHS2ST_HUMANIntAct32814053 details
GIPC1_HUMANSTX11_HUMANIntAct32814053 details
GIPC1_HUMANTELT_HUMANIntAct32814053 details
GIPC1_HUMANRXRG_HUMANIntAct32814053 details
GIPC1_HUMANMK11_HUMANIntAct32814053 details
GIPC1_HUMANIL16_HUMANIntAct32814053 details
GIPC1_HUMANGABP1_HUMANIntAct32814053 details
GIPC1_HUMANCO9A1_HUMANIntAct32814053 details
GIPC1_HUMANZN444_HUMANIntAct32814053 details
GIPC1_HUMANFAP20_HUMANIntAct32814053 details
GIPC1_HUMANZN296_HUMANIntAct32814053 details
GIPC1_HUMANPBIR3_HUMANIntAct32814053 details
GIPC1_HUMANF163A_HUMANIntAct32814053 details
GIPC1_HUMANSGSM1_HUMANIntAct32814053 details
GIPC1_HUMANRFFL_HUMANIntAct32814053 details
GIPC1_HUMANZHX1R_HUMANIntAct32814053 details
GIPC1_HUMANRNF34_HUMANIntAct32814053 details
GIPC1_HUMANACBD4_HUMANIntAct32814053 details
GIPC1_HUMANTUT7_HUMANIntAct32814053 details
GIPC1_HUMANADRB1_HUMANBioGRID, HPRD12724327 16316992 details
GIPC1_HUMANLSHR_HUMANBioGRID, HPRD14507927 details
GIPC1_HUMANDRD3_HUMANBioGRID, HPRD14499480 14617818 details
GIPC1_HUMANLRP2_HUMANBioGRID, HPRD10827173 11912251 12508107 16908842 details
GIPC1_HUMANLRP1_HUMANBioGRID, HPRD10827173 details
GIPC1_HUMANLRP8_HUMANBioGRID10827173 details
GIPC1_HUMANITA6_HUMANBioGRID, HPRD11479315 11852236 29755126 details
GIPC1_HUMANITA5_HUMANBioGRID, HPRD11479315 11852236 details
GIPC1_HUMANKIF1B_HUMANBioGRID, HPRD10198040 details
GIPC1_HUMANGTR1_HUMANBioGRID, HPRD10198040 details
GIPC1_HUMANACTN1_HUMANBioGRID, HPRD10198040 details
GIPC1_HUMANNTRK1_HUMANBioGRID, HPRD11251075 details
GIPC1_HUMANNTRK2_HUMANBioGRID, HPRD11251075 14617818 15304335 details
GIPC1_HUMANRGS19_HUMANBioGRID, HPRD11251075 11956658 14617818 23145131 9770488 details
GIPC1_HUMANC1QR1_HUMANBioGRID15459234 details
GIPC1_HUMANCAR10_HUMANBioGRID29467281 details
GIPC1_HUMANLPAR1_HUMANBioGRID23145131 details
GIPC1_HUMANLPAR2_HUMANBioGRID23145131 details
GIPC1_HUMANDRD2_HUMANHPRD14617818 details
GIPC1_HUMANGIPC1_HUMANHPRD11798178 14617818 9770488 details
GIPC1_HUMANFOG1_HUMANHPRD15231747 details
GIPC1_HUMANIGF1R_HUMANHPRD11445579 details
GIPC1_HUMANKPCA_HUMANMINT10911369 details
GIPC1_HUMANNOC2L_HUMANIntAct17353931 details
GIPC1_HUMANSSRD_HUMANIntAct17353931 details
GIPC1_HUMANCOPB2_HUMANIntAct17353931 details
GIPC1_HUMANSEM4C_HUMANBioGRID, HPRD10318831 29467281 details
GIPC1_HUMANNRP1_HUMANBioGRID, HPRD10414980 15978582 27481513 29755126 details
GIPC1_HUMANFZD3_HUMANHPRD12011974 details
GIPC1_HUMANRGS1_HUMANHPRD11251075 details
GIPC1_HUMANSEM4B_HUMANHPRD15978582 details