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FLASH GENE
Symbol SH3BP4 contributors: mct - updated : 20-10-2017
HGNC name SH3-domain binding protein 4
HGNC id 10826
Location 2q37.2      Physical location : 235.860.627 - 235.964.356
Synonym name
  • EH-binding protein 10
  • transferrin receptor trafficking protein
  • Synonym symbol(s) BOG25, EHB10, TTP
    DNA
    TYPE functioning gene
    STRUCTURE 103.73 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    APG16L 2q37.1 APG16 autophagy 16-like (S. cerevisiae) SAG 2q37.1 S-antigen; retina and pineal gland (arrestin) DGKD 2q37.1 diacylglycerol kinase, delta 130kDa USP40 2q37.1 ubiquitin specific protease 40 UGT1A12P 2q37 UDP glycosyltransferase 1 family, polypeptide A12 pseudogene UGT1A11P 2q37 UDP glycosyltransferase 1 family, polypeptide A11 pseudogene UGT1A@ 2q37 UDP glycosyltransferase 1 family, polypeptide A cluster LOC391493 2 similar to UDP-glucuronosyltransferase 1-5 precursor, microsomal (UDP-glucuronosyltransferase 1A5) (UDPGT) (UGT1*5) (UGT1-05) (UGT1.5) (UGT-1E) (UGT1E) UGT1A2P 2q37 UDP glycosyltransferase 1 family, polypeptide A2 pseudogene LOC389085 2 similar to hypothetical protein FLJ40243 LOC339766 2q37.2 hypothetical protein LOC339766 DKFZp762E1312 2q37.2 hypothetical protein DKFZp762E1312 LOC151507 2q37.2 similar to male-specific lethal 3-like 1 isoform a; drosophila MSL3-like 1 TRPM8 2q37.1 transient receptor potential cation channel, subfamily M, member 8 SPP2 2q37 secreted phosphoprotein 2, 24kDa ARL7 2q37.2 ADP-ribosylation factor-like 7 SH3BP4 2q37.1-q37.2 SH3-domain binding protein 4 CENTG2 2p24.3-p24.1 centaurin, gamma 2 GBX2 2q37.3 gastrulation brain homeo box 2 LOC389086 2 LOC389086 FLJ22527 2q37.3 hypothetical protein FLJ22527 CMKOR1 2q37.3 chemokine orphan receptor 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 5193 107.4 963 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrinepancreas   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)   Homo sapiens
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
     digestive
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal SH3 domain
  • three EH binding sites
  • the consensus N-P-Z aspargine-proline-phenylalanine motif
  • a PXXP motif between NPZ2
  • in the C terminal region a bipartite nuclear localization signal (NLS)
  • a Tyr phosphorylation site
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transport
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleolus
    intracellular,nuclear envelope
    text
  • compared to other EPS15 homolog network and death domain proteins, SH3BP4 fusion proteins have an unusual intracellular localization to the plasma membrane and the nuclear periphery
  • basic FUNCTION
  • maybe involved in a newly cascade of proteins involved in endocytosis intracellular sorting and the cell cycle
  • has likely physiological significance for retinal pigment epithelial (RPE) cells
  • is a key molecule for selective internalization of the transferrin receptor (Tf-R) through endocytic protein complexes
  • is a negative regulator of the Rag GTPase complex and amino acid-dependent MTOR signaling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS endocytosis transport
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SH3 binding
  • SH3-containing protein, specifically regulates the internalization of the transferrin receptor (TfR)
  • directly binds to multiple 14-3-3 isotypes via its Ser(245) residue (Ser246) and these proteins are associated at the plasma membrane
  • recently identifed as a negative regulator of Rag GTPases (RRAGA, RRAGB, RRAGC, RRAGD)
  • cell & other
    REGULATION
    Other is transcriptionally regulated by microphthalmia-associated transcription factor as its direct target
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS