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FLASH GENE

Symbol

RASEF

contributors: mct/npt - updated : 02/06/2008

HGNC name	RAS and EF-hand domain containing
HGNC id	26464

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	9q21.32      Physical location : 85.597.316 - 85.678.043
Synonym name	RAB45, member RAS oncogene family
	RAS and EF hand domain containing
Synonym symbol(s)	FLJ31614, RAB45

DNA

TYPE	functioning gene
STRUCTURE	80.00 kb     17 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 variant 1 17 - 2770 82.9 740 - -

EXPRESSION

Type

widely

constitutive of

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 thyroid       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a coiled-coil motif at the mid region
	a distinct N-terminal EF-hand domain
	a domain found in RAS family GTP-binding proteins
	Ras GTPase (Rab family) motifs at the C-terminus, that bound guanine nucleotide tri- and di-phosphates

HOMOLOGY

Homologene

FAMILY	small GTPase superfamily
	Rab family

CATEGORY

tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	potentially involved in the RAS pathway prominent in the development of melanoma
	capable of self-interacting, and the self-interaction required the mild region containing the coiled-coil motif

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   homozygosity and methylation in primary primary uveal melanomas were associated with decreased survival

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS