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FLASH GENE

Symbol

GDI1

contributors: mct - updated : 16-10-2017

HGNC name	GDP dissociation inhibitor 1
HGNC id	4226

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DUPXQ28 chromosome Xq28 (MECP2) duplication MRX41 mental retardation, 41 MRX48 mental retardation, 48
Location	Xq28      Physical location : 153.665.258 - 153.671.812
Synonym name	oligophrenin 2
	rab GDP-dissociation inhibitor, alpha
	guanosine diphosphate dissociation inhibitor 1
Synonym symbol(s)	GDI1A, GDIL, RGDI2, RHOGDI, XAP4, RABGDIA, OPHN2, RABGD1A, FLJ41411, RABGDI, 1A, , MRX41, MRX48, XAP-4

DNA

TYPE	functioning gene
STRUCTURE	6.56 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	see FLNA , L1CAM

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001493 11 - 2505 NP_001484 - 447 - -

EXPRESSION

Type

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 Endocrine neuroendocrine pituitary     highly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to murine Gdi1 (98.0pc)
	homolog to rattus Gdi1 (98.7pc)

Homologene

FAMILY

Rab GDI family

CATEGORY

regulatory , signaling neurotransmitter , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic

basic FUNCTION	involved in the regulation of vesicle-mediated cellular transport
	involved in the regulation of neuronal differentiation and brain development (signal transduction)
	regulating intracellular vesicle transport
	regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them and the subsequent binding of GTP to them
	GDI1 functions in the anchor cell (AC) to promote invadopodia formation

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

development , cellular trafficking transport

text	intracellular vesicle transport

PATHWAY

metabolism

signaling

signal transduction

a component

component of the switching mechanism that is required for commissural axons to change their response from attraction to repulsion at the intermediate target

INTERACTION

DNA

RNA

small molecule

protein	ligand for presenilin 1 (PSEN1)
	interacts with RAB10 in insulin-stimulated SLC2A4 translocation (Chen 2009)
	interacting with RAC1 and involved in its inhibition (Papaharalambus 2005)
	controls axonal midline crossing by regulating ROBO1 surface expression
	GDI1 efficiently extracts RAC1 from liposomes preferentially in the inactive GDP-bound state
	GDI1, PACSIN1, and DPYSL2 interact with not only phosphatidic acid (PA) but also with other phospholipids

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MRX41 , MRX48 , DUPXQ28

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   overexpressed in some ovarian cancers which are paclitaxel resistant (Goto 2006)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive ovary predictive marker for paclitaxel resistance in the treatment of ovarian cancers

ANIMAL & CELL MODELS

Gdi1-null mice are impaired in attention and associative learning processes, which are a key part of the cognitive impairment observed in XLID patients