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FLASH GENE
Symbol GRIP1 contributors: mct/npt - updated : 22-02-2016
HGNC name glutamate receptor interacting protein 1
HGNC id 18708
Corresponding disease
FRAS3 Fraser syndrome 3
Location 12q14.3      Physical location : 66.741.211 - 67.072.925
Synonym name
  • GLUR2 interacting protein
  • GRIP1 protein
  • Synonym symbol(s) GRIP, KIAA1167, GRASP1
    DNA
    TYPE functioning gene
    STRUCTURE 721.87 kb     24 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    FLJ32549 12q14.1 hypothetical protein FLJ32549 LOC115749 12q14.1 hypothetical protein LOC115749 LOC390339 12 similar to 40S ribosomal protein S11 XPOT 12q14 exportin, tRNA (nuclear export receptor for tRNAs) TBK1 13q14.2-q14.3 TANK-binding kinase 1 RASSF3 12q14.1 Ras association (RalGDS/AF-6) domain family 3 GNS 12q14 glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease IIID) KIAA0984 12q13.13 glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease IIID) WIF1 12q13.13 WNT inhibitory factor 1 MAN1 12q14 WNT inhibitory factor 1 LOC253827 12q14.1 hypothetical protein LOC253827 LOC387865 12 LOC387865 LOC204010 12q14.2 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) HMGA2 12q14-q15 high mobility group AT-hook 2 LOC341321 12q14.2 similar to 60S ribosomal protein L21 MGC14817 12q14.2 hypothetical protein MGC14817 CGI-119 12q14.1-q15 CGI-119 protein IRAK3 12q13.13 interleukin-1 receptor-associated kinase 3 RBMS1P 12q14.2 RNA binding motif, single stranded interacting protein 1, pseudogene LOC387866 12 LOC387866 LOC390340 12 similar to IAP-associated factor VIAF1; phosducin-like 2 HELB 12q14.2 helicase (DNA) B GRIP1 12q14.1-q14.2 glutamate receptor interacting protein 1 HGT2 12q14.3 glutamate receptor interacting protein 1 TIP120A 12q14 glutamate receptor interacting protein 1 LOC390341 12 similar to nuclear localization signal containing protein deleted in Velo-Cardio-Facial syndrome DYRK2 12q14.3 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 LOC341333 12q14.3 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) IFNG 12q14-q15 interferon, gamma IL26 12q15 interleukin 26 IL22 12q15 interleukin 22 MDM1 12q14.3 nuclear protein double minute 1 LOC160410 12q14.3 proteasome (prosome, macropain) 26S subunit, ATPase, 6 pseudogene LOC387867 12 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) RAP1B 12q14 RAP1B, member of RAS oncogene family LOC246723 12q14 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d pseudogene NUP107 12q14.3 nuclear pore complex protein SLC35E3 12q15 solute carrier family 35, member E2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 5060 116.24 1076 - 2004 15226318
    23 - 5015 - 1061 - 2004 15226318
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrineneuroendocrinepituitary  highly
     parathyroid   highly
    Nervousbrainbasal nuclei  moderately
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • seven PDZ domain at the C-terminus (required for interaction between FRAS1 and GRIP1)
  • kinesin binding domain
  • HOMOLOGY
    interspecies C.elegans KO7H8.3
    Homologene
    FAMILY
    CATEGORY signaling neurotransmitter , transport
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • enabling kinesis to transport dendritic proteins such as AMPA receptor subunit GLUR2
  • required for cell-matrix interactions during early embryonic development
  • may play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of the trafficking of its binding partners at specific subcellular location in neurons
  • playing an important role in dendrite morphogenesis by serving as an adaptor protein for kinesin-dependent transport of EPHB receptors to dendrites
  • binds to and regulates both the trafficking and membrane organization of a large number of transmembrane proteins (Long 2008)
  • previously unidentified role for AMPA-R-GRIP1-exocyst protein complexes in activity-dependent AMPA-R trafficking
  • may serve to organize macromolecular complexes, linking AMPA-Rs and other membrane proteins to the cytoskeleton and membrane trafficking and signal transduction pathways
  • multi-PDZ domain-containing protein that interact with the C-termini of AMPA-R GRIA2 and GRIA3 subunits
  • regulatory role for GRIP1 during microtubule-based transport and suggest a crucial function for 14-3-3 proteins in controlling kinesin-1 motor attachment during neuronal development
  • essential role of GRIP1-mediated AMPAR trafficking during inactivity-induced synaptic scaling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling neurotransmission
    a component
  • GLUR2/GRIP1 complex
  • ephrin B1 EFNB1/GRIP1 complex
  • kinesin/GRIP1 complex
  • homomultimers or heteromultimers with GRIP2
  • forms a ternary complex with GRIA2 and CSPG4
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • EFNB1 and EFNB3
  • kinesin
  • GLUR2
  • DIP2(coactivation of transcription)
  • required for the deposition of both FRAS1 and FREM2 on the basement membrane, possibly through interactions with the cytoplasmic tails of these proteins
  • interacting with SUV420H1 (GRIP1-associated “secondary” cofactor for GR (glucocorticoid receptor), and active modulator of hormone-dependent gene expression) (Chinenov 2008)
  • interacting with FRAS1 (provides a mechanistic explanation of the link between GRIP1 and the Fraser syndrome but may also serve as a foundation for searching for potential mutations in GRIP1 that could lead to the Fraser syndrome) (Long 2008)
  • bind to the C-termini of AMPA-R GRIA2 and GRIA3 subunits
  • CREB1 mediates the PRKAA-stimulated degradation of GRIP1 through protein-protein interaction and stimulation of proteasomal degradation of ubiquitinated GRIP1
  • TRIP6-GRIP1-MYO6 interaction and its regulation on F-actin network play a significant role in dendritic morphogenesis
  • activity-dependent trafficking of GRIP1 to synaptic sites drives the forward trafficking and enhanced synaptic accumulation of GRIA2-containing AMPAR during synaptic scaling up
  • cell & other
    REGULATION
    Other regulated by cAMP-dependent protein kinase (PKA) that induces its degradation through the ubiquitin-proteasome pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) FRAS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    in Fraser syndrome
    constitutional germinal mutation      
    in isolated Congenital anomalies of the kidney and urinary tract (CAKUT)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    deleted in the eye-blebs (eb) of mouse