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FLASH GENE

Symbol

RIN3

contributors: mct - updated : 04-04-2012

HGNC name	Ras and Rab interactor 3
HGNC id	18751

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	175.21 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_024832 10 - 3869 NP_079108 - 985 - 2002 11733506

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol not specific mast cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one SH2 domain, and and proline-rich domains in the N-terminal region
	RH, VPS9, and RA domains in the C-terminal region

HOMOLOGY

Homologene

FAMILY

RIN (Ras interaction/interference) family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic,vesicle

basic FUNCTION	characterized as the stimulator and stabilizer for GTP-Rab5
	may function as a guanine nucleotide exchange (GEF), by exchanging bound GDP for free GTP
	plays an important role in the transport pathway from plasma membrane to early endosomes
	biochemically characterized as the stimulator and stabilizer for GTP-RAB5A plays an important role in the transport pathway from plasma membrane to early endosomes
	specifically induced tubulovesicular structures, suggesting that each RAB31-GEF activates RAB31 under different spatio-temporal conditions
	potentially acts physiologically as a GEF to regulate RAB31-dependent transport between the TGN and early endosomes
	role for RIN3 in coordinating the early steps of KIT endocytosis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	RIN1, RIN2, RIN3 serve as guanine nucleotide exchange factors for RAB5A
	specifically acts as a GEF for RAB31
	functioned as an inhibitor of mast cell migration toward KITLG

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to Paget disease of bone (PDB)

Variant & Polymorphism other	rs10498635 strongly associated with PDB

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS