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FLASH GENE

Symbol

RAB23

contributors: mct/pgu - updated : 28-08-2017

HGNC name	RAB23, member RAS oncogene family
HGNC id	14263

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ACPS2 acrocephalosyndactyly type 2
Location	6p12.1      Physical location : 57.053.590 - 57.087.078
Synonym name	RAB family small GTP binding protein RAB 23
	Ras-related protein Rab-23
Synonym symbol(s)	HSPC137, MGC8900, DKFZp781H0695

DNA

TYPE	functioning gene
STRUCTURE	35.32 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_183227 7 - 2623 NP_899050 26.7 237 - 2003 14617350 NM_016277 7 - 3037 NP_057361 26.7 237 - 2003 14617350 NM_001278666 7 - 4368 NP_001265595 - 237 - 2003 14617350 NM_001278667 7 - 4540 NP_001265596 - 237 - 2003 14617350 NM_001278668 7 - 4367 NP_001265597 - 237 - 2003 14617350

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 esophagus       highly Nervous brain           spinal cord         Reproductive female system uterus     highly Urinary kidney nephron renal capsule glomerulus highly Visual eye retina     predominantly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY	Ras superfamily of GTP-binding proteins
	RAB guanosine triphosphatase (GTPase) family of vesicle transport proteins

CATEGORY

protooncogene

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome

basic FUNCTION	involved in small GTPase mediated signal transduction and intracellular protein transportation
	participate in central nervous system development
	acts as a negative regulator of hedgehog (HH) signaling
	having a function in antagonizing sonic hedgehog signal transduction
	may play a role in protein turnover in the cilium
	negatively regulates GLI1 activity in a SUFU-dependent manner
	is an essential component of the mechanism that transmits asymmetric patterning information from the node to the lateral plate mesoderm (LPM)
	small guanine nucleotide binding protein that has important effects on physiological signaling from cilia but was not known previously to be essential for ciliary delivery of any cargo
	dopamine receptors reveal a previously unrecognized mechanism of ciliary receptor targeting and functional role of RAB23 in promoting this process
	promotes squamous cell carcinoma cells migration and invasion by regulating ITGB1/TIAM1/RAC1 pathway
	serves as an important oncoprotein in human astrocytoma by regulating cell invasion and migration through RAC1 activity
	role for RAB23 in transport processes to the primary cilium

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	directly associates with SUFU and inhibits GLI1 function in a SUFU-dependent manner
	KIF17 needs to bind to regulatory proteins like RAB23 for its ciliary transport, and RAB23 could mediate the transport of KIF17 to the primary cilium

cell & other

interaction with cilia

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ACPS2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   amplification     in primary gastric tumors tumoral     --over   in Prostate cancer tissues and cell lines tumoral     --over   facilitates malignant cell growth and invasion in bladder cancer through the NFKB1 pathway

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	could serve as a biomarker that indicates the severity of FSGS
	RAB23 expression is a useful indicator of metastatic potential for pancreatic duct adenocarcinoma
Therapy target
	System Type Disorder Pubmed cancer reproductive prostate is a potential therapeutic target for PCa treatment cancer endocrine pancreas may be a new therapeutic target for pancreatic duct adenocarcinoma

ANIMAL & CELL MODELS