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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
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
    Physical map
    ADCY8 8q24 adenylate cyclase 8 (brain) KIAA0143 8q24.22 KIAA0143 protein LOC137202 HHLA1 8q24 HERV-H LTR-associating 1 KCNQ3 8q24 potassium voltage-gated channel, KQT-like subfamily, member 3 TSLRP 8q24.22 testis specific leucine rich repeat protein FLJ33069 8q24.22 hypothetical protein FLJ33069 CGI-72 8q24.22 CGI-72 protein TG 8q24.3 thyroglobulin SLA 8q23.3-q24.3 Src-like-adaptor WISP1 8q24.1-q24.3 WNT1 inducible signaling pathway protein 1 NDRG1 8q24.3 N-myc downstream regulated gene 1 LOC392271 8 similar to 60S ribosomal protein L32 FAM10A6 8q24.22 family with sequence similarity 10, member A6 LOC389688 8 LOC389688 SIAT4A 8q24.22 sialyltransferase 4A (beta-galactoside alpha-2,3-sialyltransferase) ZNF406 8q24.22 zinc finger protein 406 LOC286094 8q24.23 hypothetical protein LOC286094 KHDRBS3 8q22-q24.2 KH domain containing, RNA binding, signal transduction associated 3 LOC392272 8 similar to Nucleolar phosphoprotein p130 (Nucleolar 130 kDa protein) (140 kDa nucleolar phosphoprotein) (Nopp140) (Nucleolar and coiled-body phosphoprotein 1) LOC51059 8q24.3 hypothetical protein LOC51059 COL22A1 8q24.3 collagen, type XXII, alpha 1 KCNK9 8q24.2 potassium channel, subfamily K, member 9 T1 8q24.3 Tularik gene 1 C8orf17 8q24.3 chromosome 8 open reading frame 17 CHRAC1 8q24.3 chromatin accessibility complex 1
    regionally located located within the markers D8S2049 and D8S1753 ; located within the ECA1 region (childwood absence epilepsy)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 splicing 1963 38.8 346 - Lee (1999)
  • complete CDS
  • a single poly-proline site binding SH3 domain of the p85 subunit of PI3-kinase
  • - splicing 1110 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)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Digestivesalivary gland   highly
    Nervousnerve   highly
    Reproductivefemale systemovary  highly
     male systemprostate  lowly
    Urinarykidney   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialabsorptive excretoryrenal tubular epithelium  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Urinarypodocyte
    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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in proteinuric diseases
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS