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FLASH GENE

Symbol

GIPC1

contributors: mct - updated : 31-08-2020

HGNC name	GIPC PDZ domain containing family, member 1
HGNC id	1226

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	OPDM2 oculopharyngodistal myopathy 2
Location	19p13.12      Physical location : 14.588.571 - 14.606.944
Genatlas name	GAIP C-terminus interacting protein 1
Synonym name	regulator of G-protein signalling 19 interacting protein 1
	chromosome 19 open reading frame 3
	GLUT1 C-terminal binding protein
	IGF-1 receptor interacting protein
	Tax interaction protein 2
Synonym symbol(s)	GIPC, TIP2, GLUT1CBP, IIP-1, C19orf3, RGS19IP1, SYNECTIN, NIP, SEMCAP, SYNECTIIN, MGC3774, MGC15889

DNA

TYPE	functioning gene
STRUCTURE	18.37 kb     9 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005716 9 - 1947 NP_005707 - 333 - 2016 26787837 isoform 1 NM_202467 8 - 1629 NP_974196 - 236 - 2016 26787837 isoform 2 NM_202468 8 - 1891 NP_974197 - 333 - 2016 26787837 isoform 1 NM_202469 7 - 1573 NP_974198 - 236 - 2016 26787837 isoform 2 NM_202470 7 - 1803 NP_974199 - 333 - 2016 26787837 isoform 1 NM_202494 6 - 1485 NP_974223 - 236 - 2016 26787837 isoform 2

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive liver         Endocrine pancreas       highly Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Muscular striatum cardiac     Muscular striatum skeletal     Nervous central

cell lineage
cell lines	breast cancer cell line MCF-7 and gastric cancer cell lines
fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES		Hydrophilic
STRUCTURE

motifs/domains	multiple phosphorylation sites
	GH1 and GH2 domains
	a central PDZ (PSD95/disc large/ZO-1) domain interacting with RGS-GAIP, directly engaged the C-terminal sequence of APPL1
	a C terminal acyl carrier protein (ACP) domain and MYO6 binding site

HOMOLOGY

interspecies	homolog to rattus Gipc1 (96.4pc)
	homolog to murine Gipc1 (96.4pc)

Homologene

FAMILY

GIPC family

CATEGORY

regulatory , antigen , transport

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic,vesicle

basic FUNCTION	potentially involved in the regulation of vesicular trafficking
	regulating cell mobility
	recruits RGS19 to attenuate dopamine D2 receptor signaling
	might play key roles in carcinogenesis and embryogenesis through modulation of growth factor signaling and cell adhesion
	required for both internalization of cell surface receptors and for coupling of MYO6 to uncoated endocytic vesicles
	NMDA receptor-interacting protein, that associates with surface as well as internalized NMDA receptors when expressed in heterologous cells
	may be preferentially associated with extrasynaptic NMDA receptors and may play a role in the organization and trafficking of this population of receptors
	promotes SLC2A1 trafficking to the cell surface
	scaffolding protein that regulates cell surface receptor expression and trafficking
	involved in G protein-linked signaling
	novel breast cancer-associated immunogenic antigen overexpressed in breast cancer
	is involved in IGF1 signaling leading to ZNF143 expression through the regulation of ROS production, which may play a role for colon cancer tumorigenesis
	broad role for GIPC1 in the development of both stereociliary bundles and cell polarization
	novel role for GIPC1 as a master regulator of autophagy and the exocytotic pathways in cancer
	regulates cellular trafficking pathways by modulating the secretion, biogenesis, and molecular composition of exosomes
	plays a critical role in the trafficking and regulation of membrane receptor pathways

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

IGF1 signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with GAIP
	interacting with IGF1 receptor
	interacting with RGS19, via its C-terminal PDZ-binding motif
	interacting with TGFBR3 (inducing increased expression of TGFB3)
	interacting with APPL1 (GIPC1 and APPL1 play a role in NTRK1 function and suggest that a population of endosomes bearing a complex of APPL1, GIPC1, and activated NTRK1 may transmit NGF signals)
	interacting with SLC2A1, ACTN1, KIF1B, MYO6, PLEKHG5, SDC4, SEMA4C, HTLV-I Tax
	interaction between TGFBR3 and GIPC1
	GIPC1, ACVR1, BMPR1A, and TGFBR1 are signaling components required for TGFBR3-mediated endothelial cell epithelial-mesenchymal transformation
	GIPC1 is a critical component of endoglin function during developmental angiogenesis
	is a new interactor for VANGL2, and MYO6-GIPC1 protein complex can regulate VANGL2 traffic in heterologous cells
	MYO6 functions in endocytosis in conjunction with binding partners including adaptor protein (TFAP2A, DAB2, and GIPC1)
	VEGFA induced interactions between NRP1 and GIPC1, a scaffold protein, and complex formation between GIPC1 and PLEKHG5, a RhoGEF
	interaction with PLXND1, through a sorting motif that interacts with the adaptor protein GIPC1 to facilitate transport to recycling endosomes
	GIPC1-mediated endocytic trafficking regulates PLXND1 signaling
	promotes fibrogenesis by regulating PDGFR isoforms through distinct mechanisms

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

OPDM2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   overexpressed in breast and ovarian cancer , tumoral     --low   in gastric, colorectal cancer, primary kidney and prostate tumors

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Gipc1 mutant mice show specific defects in axonal projections, as well as vascular structures, that rely on Plexin-D1 signalling for their development