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FLASH GENE
Symbol ITGB1BP2 contributors: mct - updated : 19-12-2012
HGNC name integrin beta 1 binding protein (melusin) 2
HGNC id 6154
Location Xq13.1      Physical location : 70.521.627 - 70.525.204
Synonym name melusin
Synonym symbol(s) ITGB1BP, MSTP015, CHORDC3, MELUSIN
DNA
TYPE functioning gene
STRUCTURE 3.58 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map cen - DXS991 - MTHFD1P1 - DXS1194 - HEPH - DXS1213 - EFNB1 - DXS1216 - MED12 - TAF1 - STARD8 - ITGB1BP2 - MLLT7 - DXS983 - qter
Physical map
OBDPF Xq13.1 osteoblast differentiation promoting factor DLG3 Xq13.1 discs, large (Drosophila) homolog 3 (neuroendocrine-dlg) TEX11 Xq12-q13.1 testis expressed sequence 11 SLC7A3 Xq12 solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 LOC392488 X similar to Nuclear transport factor 2 (NTF-2) (Placental protein 15) (PP15) SNX12 Xq12-q13.1 sorting nexin 12 MLLT7 Xq13.1 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7 LOC158830 Xq13.1 similar to Ab2-183 IL2RG Xq12-q13.1 interleukin 2 receptor, gamma (severe combined immunodeficiency) TNRC11 Xq13 trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit) NLGN3 Xq13.1 neuroligin 3 GJB1 Xq13.1 gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked) ZNF261 Xq13.1 zinc finger protein 261 NONO Xq13.1 non-POU domain containing, octamer-binding ITGB1BP2 Xq12.1-q13 integrin beta 1 binding protein (melusin) 2 LOC392489 X similar to ras homolog gene family, member G (rho G); RhoG TAF1 Xq13.1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa ING2 Xq12 inhibitor of growth family, member 2 OGT Xq13 O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) ACRC Xq13.1 acidic repeat containing CXCR3 Xq13 chemokine (C-X-C motif) receptor 3 LOC158825 Xq13.1 hypothetical LOC158825 LOC389868 X LOC389868 LOC389869 X LOC389869 LOC389870 X LOC389870 LOC389871 X LOC389871 LOC286539 Xq13.1 similar to 40S ribosomal protein S26
RNA
TRANSCRIPTS type
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 1235 - 347 - 1999 10506186
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   specific Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiac specific Homo sapiens
Muscularstriatumskeletal specific Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two cysteine rich repeats in N terminal region with several putative SH3 and SH2 binding sites
  • a C terminal region,highly enriched in aspartic and glutamic acid residues, binding to integrin beta 1
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY chaperone/stress , receptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • may be playing a role during maturation and/ororganization of muscles cells
  • specific mechanosensor transducing signal that acts in preventing to heart failure in conditions of biomechanical stress
  • muscle specific CHORD containing protein capable of activating signal transduction pathways leading to cardiomyocytes hypertrophy in response to mechanical stress
  • required for compensatory hypertrophy response in pressure-overloaded heart
  • muscle-specific integrin-linked protein, reported to be a biomechanical sensor and to protect the heart from pressure overload
  • muscle-specific chaperone protein capable of MAPK1/MAPK3 signalling activation in the heart
  • organizes ERK signal transduction in cardiomyocytes and regulates cardiac compensatory hypertrophy in response to different stress stimuli
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • new component of the Hsp90 chaperone machinery
  • in the heart, melusin forms a supramolecular complex with the proto-oncogene RAF1, MAPKK1/2 and MAPK1/MAPK3
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ITGB1 cytoplasmic domain in a Ca2+ dependent fashion
  • beta integrin cytoplasmic domain
  • directly binds to HSP90AA1, a ubiquitous chaperone involved in regulating several signaling pathways
  • interacts with SUGT1, an HSP90AA1 binding molecule
  • PIK3CA interacts with melusin (ITGB1BP2), and is critical for Z-disc alignment
  • PTK2 and IQGAP1 regulate melusin-dependent cardiomyocyte hypertrophy and survival through MAPK1/MAPK3 activation
  • cooperate with HSP90AA1 and regulate signal transduction in important physiopathological processes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS