Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	10755
Gene name	GIPC PDZ domain containing family member 1
Gene symbol	GIPC1
Synonyms (NCBI Gene)	C19orf3GIPCGLUT1CBPHs.6454IIP-1NIPOPDM2RGS19IP1SEMCAPSYNECTIINSYNECTINTIP-2
Chromosome	19
Chromosome location	19p13.12
Summary	GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009]

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Show/Hide all (220)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040897	hsa-miR-18a-3p	CLASH	23622248
MIRT614987	hsa-miR-1470	HITS-CLIP	23824327
MIRT614986	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT614985	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT614984	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT614983	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT614982	hsa-miR-4469	HITS-CLIP	23824327
MIRT614981	hsa-miR-1976	HITS-CLIP	23824327
MIRT614987	hsa-miR-1470	HITS-CLIP	23824327
MIRT614986	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT614985	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT614984	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT614983	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT614982	hsa-miR-4469	HITS-CLIP	23824327
MIRT614981	hsa-miR-1976	HITS-CLIP	23824327
MIRT1019357	hsa-let-7a	CLIP-seq
MIRT1019358	hsa-let-7b	CLIP-seq
MIRT1019359	hsa-let-7c	CLIP-seq
MIRT1019360	hsa-let-7d	CLIP-seq
MIRT1019361	hsa-let-7e	CLIP-seq
MIRT1019362	hsa-let-7f	CLIP-seq
MIRT1019363	hsa-let-7g	CLIP-seq
MIRT1019364	hsa-let-7i	CLIP-seq
MIRT1019365	hsa-miR-105	CLIP-seq
MIRT1019366	hsa-miR-1266	CLIP-seq
MIRT1019367	hsa-miR-1280	CLIP-seq
MIRT1019368	hsa-miR-1285	CLIP-seq
MIRT1019369	hsa-miR-137	CLIP-seq
MIRT1019370	hsa-miR-187	CLIP-seq
MIRT1019371	hsa-miR-1908	CLIP-seq
MIRT1019372	hsa-miR-194	CLIP-seq
MIRT1019373	hsa-miR-202	CLIP-seq
MIRT1019374	hsa-miR-2110	CLIP-seq
MIRT1019375	hsa-miR-25	CLIP-seq
MIRT1019376	hsa-miR-27a	CLIP-seq
MIRT1019377	hsa-miR-27b	CLIP-seq
MIRT1019378	hsa-miR-3155	CLIP-seq
MIRT1019379	hsa-miR-3155b	CLIP-seq
MIRT1019380	hsa-miR-3183	CLIP-seq
MIRT1019381	hsa-miR-3187-5p	CLIP-seq
MIRT1019382	hsa-miR-3194-3p	CLIP-seq
MIRT1019383	hsa-miR-32	CLIP-seq
MIRT1019384	hsa-miR-326	CLIP-seq
MIRT1019385	hsa-miR-330-5p	CLIP-seq
MIRT1019386	hsa-miR-33a	CLIP-seq
MIRT1019387	hsa-miR-33b	CLIP-seq
MIRT1019388	hsa-miR-3612	CLIP-seq
MIRT1019389	hsa-miR-3616-3p	CLIP-seq
MIRT1019390	hsa-miR-363	CLIP-seq
MIRT1019391	hsa-miR-3664-3p	CLIP-seq
MIRT1019392	hsa-miR-367	CLIP-seq
MIRT1019393	hsa-miR-370	CLIP-seq
MIRT1019394	hsa-miR-378g	CLIP-seq
MIRT1019395	hsa-miR-3942-3p	CLIP-seq
MIRT1019396	hsa-miR-3974	CLIP-seq
MIRT1019397	hsa-miR-4268	CLIP-seq
MIRT1019398	hsa-miR-4271	CLIP-seq
MIRT1019399	hsa-miR-4283	CLIP-seq
MIRT1019400	hsa-miR-4433	CLIP-seq
MIRT1019401	hsa-miR-4443	CLIP-seq
MIRT1019402	hsa-miR-4458	CLIP-seq
MIRT1019403	hsa-miR-4459	CLIP-seq
MIRT1019404	hsa-miR-4476	CLIP-seq
MIRT1019405	hsa-miR-4486	CLIP-seq
MIRT1019406	hsa-miR-4500	CLIP-seq
MIRT1019407	hsa-miR-4518	CLIP-seq
MIRT1019408	hsa-miR-4632	CLIP-seq
MIRT1019409	hsa-miR-4640-5p	CLIP-seq
MIRT1019410	hsa-miR-4651	CLIP-seq
MIRT1019411	hsa-miR-4710	CLIP-seq
MIRT1019412	hsa-miR-4721	CLIP-seq
MIRT1019413	hsa-miR-4723-3p	CLIP-seq
MIRT1019414	hsa-miR-4725-3p	CLIP-seq
MIRT1019415	hsa-miR-4726-5p	CLIP-seq
MIRT1019416	hsa-miR-4761-3p	CLIP-seq
MIRT1019417	hsa-miR-4768-3p	CLIP-seq
MIRT1019418	hsa-miR-4779	CLIP-seq
MIRT1019419	hsa-miR-4787-5p	CLIP-seq
MIRT1019420	hsa-miR-484	CLIP-seq
MIRT1019421	hsa-miR-493	CLIP-seq
MIRT1019422	hsa-miR-548ac	CLIP-seq
MIRT1019423	hsa-miR-548d-3p	CLIP-seq
MIRT1019424	hsa-miR-548z	CLIP-seq
MIRT1019425	hsa-miR-550a	CLIP-seq
MIRT1019426	hsa-miR-608	CLIP-seq
MIRT1019427	hsa-miR-612	CLIP-seq
MIRT1019428	hsa-miR-650	CLIP-seq
MIRT1019429	hsa-miR-663	CLIP-seq
MIRT1019430	hsa-miR-744	CLIP-seq
MIRT1019431	hsa-miR-92a	CLIP-seq
MIRT1019432	hsa-miR-92b	CLIP-seq
MIRT1019433	hsa-miR-98	CLIP-seq
MIRT1019396	hsa-miR-3974	CLIP-seq
MIRT1019404	hsa-miR-4476	CLIP-seq
MIRT1019421	hsa-miR-493	CLIP-seq
MIRT1019357	hsa-let-7a	CLIP-seq
MIRT1019358	hsa-let-7b	CLIP-seq
MIRT1019359	hsa-let-7c	CLIP-seq
MIRT1019360	hsa-let-7d	CLIP-seq
MIRT1019361	hsa-let-7e	CLIP-seq
MIRT1019362	hsa-let-7f	CLIP-seq
MIRT1019363	hsa-let-7g	CLIP-seq
MIRT1019364	hsa-let-7i	CLIP-seq
MIRT1019365	hsa-miR-105	CLIP-seq
MIRT1019367	hsa-miR-1280	CLIP-seq
MIRT1019368	hsa-miR-1285	CLIP-seq
MIRT1019370	hsa-miR-187	CLIP-seq
MIRT1019372	hsa-miR-194	CLIP-seq
MIRT1019373	hsa-miR-202	CLIP-seq
MIRT1019374	hsa-miR-2110	CLIP-seq
MIRT1019378	hsa-miR-3155	CLIP-seq
MIRT1019379	hsa-miR-3155b	CLIP-seq
MIRT1019381	hsa-miR-3187-5p	CLIP-seq
MIRT1019382	hsa-miR-3194-3p	CLIP-seq
MIRT1019384	hsa-miR-326	CLIP-seq
MIRT1019385	hsa-miR-330-5p	CLIP-seq
MIRT1019393	hsa-miR-370	CLIP-seq
MIRT1019394	hsa-miR-378g	CLIP-seq
MIRT1019395	hsa-miR-3942-3p	CLIP-seq
MIRT1019398	hsa-miR-4271	CLIP-seq
MIRT1019402	hsa-miR-4458	CLIP-seq
MIRT1019405	hsa-miR-4486	CLIP-seq
MIRT1019406	hsa-miR-4500	CLIP-seq
MIRT1019409	hsa-miR-4640-5p	CLIP-seq
MIRT1019414	hsa-miR-4725-3p	CLIP-seq
MIRT1019415	hsa-miR-4726-5p	CLIP-seq
MIRT1019420	hsa-miR-484	CLIP-seq
MIRT1019422	hsa-miR-548ac	CLIP-seq
MIRT1019423	hsa-miR-548d-3p	CLIP-seq
MIRT1019424	hsa-miR-548z	CLIP-seq
MIRT1019427	hsa-miR-612	CLIP-seq
MIRT1019433	hsa-miR-98	CLIP-seq
MIRT2234902	hsa-miR-3938	CLIP-seq
MIRT2234903	hsa-miR-4742-3p	CLIP-seq
MIRT2234904	hsa-miR-630	CLIP-seq
MIRT1019367	hsa-miR-1280	CLIP-seq
MIRT1019368	hsa-miR-1285	CLIP-seq
MIRT1019381	hsa-miR-3187-5p	CLIP-seq
MIRT1019382	hsa-miR-3194-3p	CLIP-seq
MIRT1019384	hsa-miR-326	CLIP-seq
MIRT1019385	hsa-miR-330-5p	CLIP-seq
MIRT1019386	hsa-miR-33a	CLIP-seq
MIRT1019387	hsa-miR-33b	CLIP-seq
MIRT1019393	hsa-miR-370	CLIP-seq
MIRT1019394	hsa-miR-378g	CLIP-seq
MIRT1019398	hsa-miR-4271	CLIP-seq
MIRT1019405	hsa-miR-4486	CLIP-seq
MIRT1019409	hsa-miR-4640-5p	CLIP-seq
MIRT1019414	hsa-miR-4725-3p	CLIP-seq
MIRT1019415	hsa-miR-4726-5p	CLIP-seq
MIRT2234905	hsa-miR-4731-5p	CLIP-seq
MIRT2234906	hsa-miR-4747-5p	CLIP-seq
MIRT1019422	hsa-miR-548ac	CLIP-seq
MIRT1019423	hsa-miR-548d-3p	CLIP-seq
MIRT1019424	hsa-miR-548z	CLIP-seq
MIRT1019427	hsa-miR-612	CLIP-seq
MIRT2234907	hsa-miR-625	CLIP-seq
MIRT2234908	hsa-miR-637	CLIP-seq
MIRT1019430	hsa-miR-744	CLIP-seq
MIRT1019357	hsa-let-7a	CLIP-seq
MIRT1019358	hsa-let-7b	CLIP-seq
MIRT1019359	hsa-let-7c	CLIP-seq
MIRT1019360	hsa-let-7d	CLIP-seq
MIRT1019361	hsa-let-7e	CLIP-seq
MIRT1019362	hsa-let-7f	CLIP-seq
MIRT1019363	hsa-let-7g	CLIP-seq
MIRT1019364	hsa-let-7i	CLIP-seq
MIRT1019373	hsa-miR-202	CLIP-seq
MIRT1019374	hsa-miR-2110	CLIP-seq
MIRT1019398	hsa-miR-4271	CLIP-seq
MIRT1019402	hsa-miR-4458	CLIP-seq
MIRT1019406	hsa-miR-4500	CLIP-seq
MIRT1019414	hsa-miR-4725-3p	CLIP-seq
MIRT1019433	hsa-miR-98	CLIP-seq
MIRT1019357	hsa-let-7a	CLIP-seq
MIRT1019358	hsa-let-7b	CLIP-seq
MIRT1019359	hsa-let-7c	CLIP-seq
MIRT1019360	hsa-let-7d	CLIP-seq
MIRT1019361	hsa-let-7e	CLIP-seq
MIRT1019362	hsa-let-7f	CLIP-seq
MIRT1019363	hsa-let-7g	CLIP-seq
MIRT1019364	hsa-let-7i	CLIP-seq
MIRT2538757	hsa-miR-1193	CLIP-seq
MIRT2538758	hsa-miR-1207-5p	CLIP-seq
MIRT2538759	hsa-miR-1292	CLIP-seq
MIRT2538760	hsa-miR-1909	CLIP-seq
MIRT1019373	hsa-miR-202	CLIP-seq
MIRT1019374	hsa-miR-2110	CLIP-seq
MIRT1019398	hsa-miR-4271	CLIP-seq
MIRT1019402	hsa-miR-4458	CLIP-seq
MIRT1019406	hsa-miR-4500	CLIP-seq
MIRT1019414	hsa-miR-4725-3p	CLIP-seq
MIRT2538761	hsa-miR-4758-3p	CLIP-seq
MIRT2538762	hsa-miR-4763-3p	CLIP-seq
MIRT2538763	hsa-miR-4781-5p	CLIP-seq
MIRT2538764	hsa-miR-486-3p	CLIP-seq
MIRT1019430	hsa-miR-744	CLIP-seq
MIRT1019433	hsa-miR-98	CLIP-seq
MIRT1019357	hsa-let-7a	CLIP-seq
MIRT1019358	hsa-let-7b	CLIP-seq
MIRT1019359	hsa-let-7c	CLIP-seq
MIRT1019360	hsa-let-7d	CLIP-seq
MIRT1019361	hsa-let-7e	CLIP-seq
MIRT1019362	hsa-let-7f	CLIP-seq
MIRT1019363	hsa-let-7g	CLIP-seq
MIRT1019364	hsa-let-7i	CLIP-seq
MIRT2538757	hsa-miR-1193	CLIP-seq
MIRT2538758	hsa-miR-1207-5p	CLIP-seq
MIRT2681567	hsa-miR-1224-3p	CLIP-seq
MIRT2538759	hsa-miR-1292	CLIP-seq
MIRT2538760	hsa-miR-1909	CLIP-seq
MIRT1019373	hsa-miR-202	CLIP-seq
MIRT1019374	hsa-miR-2110	CLIP-seq
MIRT1019398	hsa-miR-4271	CLIP-seq
MIRT1019402	hsa-miR-4458	CLIP-seq
MIRT1019406	hsa-miR-4500	CLIP-seq
MIRT1019414	hsa-miR-4725-3p	CLIP-seq
MIRT2538761	hsa-miR-4758-3p	CLIP-seq
MIRT2538762	hsa-miR-4763-3p	CLIP-seq
MIRT1019433	hsa-miR-98	CLIP-seq

Show/Hide all (51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	ISS
GO:0005102	Function	Signaling receptor binding	IPI	15459234
GO:0005515	Function	Protein binding	IPI	9770488, 11441007, 11546783, 16908842, 21291857, 29467281, 32296183, 32814053, 33961781, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005737	Component	Cytoplasm	TAS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005938	Component	Cell cortex	IDA	12857860
GO:0006605	Process	Protein targeting	IEA
GO:0006605	Process	Protein targeting	ISS
GO:0007186	Process	G protein-coupled receptor signaling pathway	NAS	9770488
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	ISS
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008021	Component	Synaptic vesicle	ISS
GO:0012506	Component	Vesicle membrane	IEA
GO:0012506	Component	Vesicle membrane	ISS
GO:0014047	Process	Glutamate secretion	IEA
GO:0014047	Process	Glutamate secretion	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0017022	Function	Myosin binding	IEA
GO:0017022	Function	Myosin binding	ISS
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	ISS
GO:0031410	Component	Cytoplasmic vesicle	IDA	12857860
GO:0031647	Process	Regulation of protein stability	IEA
GO:0031647	Process	Regulation of protein stability	ISS
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	ISS
GO:0032467	Process	Positive regulation of cytokinesis	IMP	22888021
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0043197	Component	Dendritic spine	IEA
GO:0043197	Component	Dendritic spine	ISS
GO:0043198	Component	Dendritic shaft	IEA
GO:0043198	Component	Dendritic shaft	ISS
GO:0043542	Process	Endothelial cell migration	IEA
GO:0043542	Process	Endothelial cell migration	ISS
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0048023	Process	Positive regulation of melanin biosynthetic process	IMP	21291857
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098761	Process	Cellular response to interleukin-7	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IEA

MIM	HGNC	e!Ensembl
605072	1226	ENSG00000123159

O14908

Protein name

PDZ domain-containing protein GIPC1 (GAIP C-terminus-interacting protein) (RGS-GAIP-interacting protein) (RGS19-interacting protein 1) (Synectin) (Tax interaction protein 2) (TIP-2)

Protein function

May be involved in G protein-linked signaling.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00595	PDZ	133 → 212	PDZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:9770488). Expressed in skeletal muscle (at protein level) (PubMed:32413282). {ECO:0000269|PubMed:32413282, ECO:0000269|PubMed:9770488}.

Sequence

MPLGLGRRKKAPPLVENEEAEPGRGGLGVGEPGPLGGGGSGGPQMGLPPPPPALRPRLVF
HTQLAHGSPTGRIEGFTNVKELYGKIAEAFRLPTAEVMFCTLNTHKVDMDKLLGGQIGLE
DFIFAHVKGQRKEVEVFKSEDALGLTITDNGAGYAFIKRIKEGSVIDHIHLISVGDMIEA
INGQSLLGCRHYEVARLLKELPRGRTFTLKLTEPRKAFDMISQRSAGGRPGSGPQLGTGR
GTLRLRSRGPATVEDLPSAFEEKAIEKVDDLLESYMGIRDTELAATMVELGKDKRNPDEL
AEALDERLGDFAFPDEFVFDVWGAIGDAKVGRY

Sequence length

333

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BLADDER CALCULUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULOPHARYNGODISTAL MYOPATHY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULOPHARYNGODISTAL MYOPATHY 2	—	ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	18721484, 18721486, 21209904, 26757732, 34272498	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	21209904	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	21909943	★★★★★ ★☆☆☆☆ Found in Text Mining only
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	20648052	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Associate	22034985	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Associate	20648052	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Stimulate	18721484	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Associate	21209904	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Associate	20648052	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Associate	20648052	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	26757732, 34272498	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	18721484, 18721486, 21209904, 22292614, 25469510	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculopharyngodistal Myopathy	Associate	32413282, 33239111, 33693509, 36055118	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Associate	18721484	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	21209904, 25469510	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Associate	34148545	★★★★★ ★☆☆☆☆ Found in Text Mining only

GIPC1 (GIPC PDZ domain containing family member 1)