• Gene id: 10755

Gene Summary

• Gene Symbol: GIPC1   Gene   UCSC   Ensembl
• Aliases: C19orf3, GIPC, GLUT1CBP, Hs.6454, IIP-1, NIP, RGS19IP1, SEMCAP, SYNECTIIN, SYNECTIN, TIP-2
• Gene name: GIPC PDZ domain containing family member 1
• Alternate names: PDZ domain-containing protein GIPC1, GAIP C-terminus-interacting protein, GLUT1 C-terminal binding protein, IGF-1 receptor interacting protein 1, RGS-GAIP-interacting protein, RGS19-interacting protein 1, regulator of G-protein signalling 19 interacting protein,
• Gene location: 19p13.12 (122374674: 122442599)     Exons: 22     NC_000010.11
• Gene summary(Entrez): GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009]
• OMIM: 605072

Protein Summary

• Protein general information: O14908  
  • 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)
  • Length: 333  
  • Mass: 36049
  • Tissue specificity: Widely expressed.
• Sequence:

  MPLGLGRRKKAPPLVENEEAEPGRGGLGVGEPGPLGGGGSGGPQMGLPPPPPALRPRLVFHTQLAHGSPTGRIEG
  FTNVKELYGKIAEAFRLPTAEVMFCTLNTHKVDMDKLLGGQIGLEDFIFAHVKGQRKEVEVFKSEDALGLTITDN
  GAGYAFIKRIKEGSVIDHIHLISVGDMIEAINGQSLLGCRHYEVARLLKELPRGRTFTLKLTEPRKAFDMISQRS
  AGGRPGSGPQLGTGRGTLRLRSRGPATVEDLPSAFEEKAIEKVDDLLESYMGIRDTELAATMVELGKDKRNPDEL
  AEALDERLGDFAFPDEFVFDVWGAIGDAKVGRY

• Structural information:
  • Protein Domains: (133..21-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR017379  IPR001478  IPR036034  
  • Prosite: PS50106
  • DIP: 31142
  • STRING: ENSP00000376753
• Other Databases: GeneCards:  GIPC1  Malacards:  GIPC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048023	positive regulation of melanin biosynthetic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0048167	regulation of synaptic plasticity	IEA	biological process
GO:0043542	endothelial cell migration	IEA	biological process
GO:0032435	negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0014047	glutamate secretion	IEA	biological process
GO:0012506	vesicle membrane	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0006605	protein targeting	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0098761	cellular response to interleukin-7	IEA	biological process
GO:0043198	dendritic shaft	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0031647	regulation of protein stability	IEA	biological process
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0017022	myosin binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030165	PDZ domain binding	IEA	molecular function
GO:0030139	endocytic vesicle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005903	brush border	IEA	cellular component
GO:0003779	actin binding	ISS	molecular function
GO:0017022	myosin binding	ISS	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0006605	protein targeting	ISS	biological process
GO:0007268	chemical synaptic transmission	ISS	biological process
GO:0008021	synaptic vesicle	ISS	cellular component
GO:0012506	vesicle membrane	ISS	cellular component
GO:0014047	glutamate secretion	ISS	biological process
GO:0032435	negative regulation of proteasomal ubiquitin-dependent protein catabolic process	ISS	biological process
GO:0043542	endothelial cell migration	ISS	biological process
GO:0048167	regulation of synaptic plasticity	ISS	biological process
GO:0042802	identical protein binding	ISS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	ISS	biological process
GO:0031647	regulation of protein stability	ISS	biological process
GO:0043197	dendritic spine	ISS	cellular component
GO:0043198	dendritic shaft	ISS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0005938	cell cortex	IDA	cellular component
GO:0032467	positive regulation of cytokinesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0016020	membrane	ISS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	NAS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005829	cytosol	ISS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq