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FLASH GENE

Symbol

RANBP1

contributors: mct/npt - updated : 05-03-2010

HGNC name	RAN binding protein 1
HGNC id	9847

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	22q11.21      Physical location : 20.105.023 - 20.114.704
Synonym symbol(s)	MGC88701, HTF9A

DNA

TYPE	functioning gene
STRUCTURE	9.68 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002882 6 - 884 NP_002873 - 201 - Tedeschi (2007)

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 Nervous brain hindbrain     highly   brain forebrain     predominantly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

cell cycle

cell cycle, G2

Text	embryonic brain ventricular zone, in the frontonasal
	processes, branchial arches, aortic arches, and limb buds (Maynard 2002)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a region sharing homogeneity with cAMP dependent protein kinase
	a RanBD1 domaain
	a nuclear export signal sharing homoloigy with the NES of the inhibitor of cAMP dependent protein kinase

mono polymer

heteromer , trimer

HOMOLOGY

interspecies	homolog to murine Ranbp1
	homolog to C.elegans k05f1.9

Homologene

FAMILY

Ras-related small nuclear protein (RANBP1) family

CATEGORY

regulatory , signaling

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	inhibiting GTP dissociation
	increasing GTP hydrolysis by the RAN GTPase activating protein (RANGAP1)
	regulates centrosome cohesion during mitosis (Di Fiore 2003)
	regulator of RCC1 (regulator of chromatin condesation 1)
	has an established role in spindle assembly and in mitotic progression (Tedeschi 2007)
	its activity is required for the proper localization of specific factors that regulate microtubule function; loss of this activity contributes to the generation of aneuploidy in a microtubule-dependent manner (Tedeschi 2007)
	contributes to regulate the function of the mitotic apparatus (Rensen 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	forming a trimeric complex with RANGAP1,RANBP7 or RANBP8
	forming a trimeric complex with Ran-GDP and importin-beta, and RANBP1 restores the GDP nucleotide exchange by importin-beta by forming a tetrameric complex with importin-beta, Ran, and importin-alpha (Lonhienne 2009)

INTERACTION

DNA

RNA

small molecule

protein	Ran complexed with GTP specifically (not GDP)
	interacts with importin-beta, but this interaction is weaker than the Ran-GTP/importin-beta interaction (Lonhienne 2009)
	interacting with RANBP1 and RANGAP1 (phosphorylation of RANGAP1 stabilizes its interaction with RAN and RANBP1) (Takeda 2005)
	binds RAN and regulates its interaction with effectors (Rensen 2009)
	interacting with RAN and RANGAP1 (phosphorylation of RANGAP1 stabilizes its interaction with RAN and RANBP1) (Takeda 2005)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   sensitizes cancer cells to taxol in a caspase-3-dependent manner, and can modulate the outcome of mitotic microtubule-targeting therapeutic protocols (Rensen 2009)

Susceptibility

Variant & Polymorphism

Candidate gene	velocardiofacial syndrome/DiGeorge syndrome candidate gene (Maynard 2002)
Marker
Therapy target

ANIMAL & CELL MODELS