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FLASH GENE

Symbol

KHDRBS3

contributors: npt - updated : 10-03-2007

HGNC name	KH domain containing, RNA binding, signal transduction associated 3
HGNC id	18117

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	8q24.23      Physical location : 136.469.715 - 136.659.846
Synonym name	testicular signal transduction and activation of RNA
	Sam 68-like phosphotyrosine protein T-STAR
	Sam68-like mammalian protein 2
Synonym symbol(s)	ETOILE, T-STAR, SALP, SLM2, Etle, SLM-2

DNA

TYPE	functioning gene
STRUCTURE	190.13 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

regionally located

located within the markers D8S2049 and D8S1753 ; located within the ECA1 region (childwood absence epilepsy)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006558 9 splicing 1963 NP_006549 38.8 346 - Lee (1999) complete CDS a single poly-proline site binding SH3 domain of the p85 subunit of PI3-kinase variant beta - splicing 1110 isoform beta 29.4 264 - Lee (1999) partial CDS lacking the C terminal tyrosine-rich region binding SH3 domain of p85

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 blood / hematopoietic spleen         Digestive salivary gland       highly Nervous nerve       highly Reproductive female system ovary     highly   male system prostate     lowly Urinary kidney       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial absorptive excretory renal tubular epithelium     Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Urinary podocyte

cell lineage	germ cells
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	RNA binding domain,the maxi-KH domain
	conserved flanking GSG(GRP33-Sam68,C elegans GLD1) domains
	proline-rich motifs,arginine-glycine repeats
	a C terminal tyrosine-rich region

conjugated

PhosphoP

HOMOLOGY

interspecies	homolog to murine Khdrbs3
	homolog to Drosophila CG10384

Homologene

FAMILY

KHDRBS family

CATEGORY

adaptor , RNA associated , signaling

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleolus

basic FUNCTION	testicular signal transduction and activation of RNA
	Src substrate associated during mitosis
	down-regulating the expression of Sam 68 in CEF and arresting the growth of these cells
	regulate actin organization, and is also necessary for normal sphingolipid metabolism, at least in part through regulation of the calcium/calmodulin-dependent phosphatase calcineurin, which binds directly to both proteins
	negative regulator of cell growth and controling the pre-mRNA splicing
	induced in proteinuria and involved in splice site selection of vascular endothelial growth factor

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

reproduction/sex

text	spermatogenesis

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

binding

small molecule

protein	binding to RBM* and SLM* (see D6S1710)
	binding to p85 subunit of PI3-kinase
	interacting with SIAH1 for proteasome -dependent degradation and SIAH2

cell & other

REGULATION

Other

regulated during meiosis

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in proteinuric diseases

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS