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FLASH GENE

Symbol

RBM17

contributors: mct - updated : 31-10-2012

HGNC name	RNA binding motif protein 17
HGNC id	16944

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	10p15.1      Physical location : 6.130.948 - 6.159.420
Synonym name	splicing factor (45kD)
Synonym symbol(s)	SPF45, MGC14439

DNA

TYPE	functioning gene
STRUCTURE	28.47 kb     12 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 NM_032905 12 - 3342 NP_116294 - 401 - 2003 : 145781 NM_001145547 12 - 3760 NP_001139019 - 401 - 2003 : 145781

EXPRESSION

Type

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 Digestive intestine large intestine colon   predominantly   liver       predominantly Endocrine pancreas       predominantly Reproductive female system uterus         female system breast     predominantly   male system prostate     predominantly Urinary kidney

cells

System Cell Pubmed Species Stage Rna symbol not specific epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	stem cells

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one G-patch domain
	one RNA recognition motif (RRM) domain
	a U2AF-homology motif (UHM) mediating protein-protein interactions between factors involved in constitutive RNA splicing, and binding UHM-ligand motifs (ULMs) present in the 3prime splice site-recognizing factors U2AF2, SF1

HOMOLOGY

interspecies	ortholog to murine Rbm17
	ortholog to chicken rbm17

Homologene

FAMILY

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	promoting the utilization of a cryptic splice
	site created by the beta-110 mutation in the HBB gene
	having an ancient and evolutionarily conserved role in DNA repair
	regulates alternative splicing of the apoptosis regulatory gene FAS (also called CD95)
	first splicing factor regulated by multiple MAP kinase pathways

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

binding

small molecule

nucleotide,

protein

interaction of ATXN1 with the splicing factors RBM17 and U2AF2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in numerous carcinomas including bladder, breast, colon, lung, ovarian, pancreatic, and prostate tumoral     --over   confering in cancer broad multidrug resistance to anticancer drugs--a phenotype partially reversed by selective estrogen receptor modulators

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS