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GRIP1 Gene

protein-coding   GIFtS: 59
GCID: GC12M066741

Glutamate Receptor Interacting Protein 1

  See GRIP1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glutamate Receptor Interacting Protein 11 2
GRIP2
Glutamate Receptor-Interacting Protein 12
GRIP-13

External Ids:    HGNC: 187081   Entrez Gene: 234262   Ensembl: ENSG000001559747   OMIM: 6045975   UniProtKB: Q9Y3R03   

Export aliases for GRIP1 gene to outside databases

Previous GC identifers: GC12M066134 GC12U900033 GC12M066459 GC12M065028 GC12M063792


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GRIP1 Gene:
This gene encodes a member of the glutamate receptor interacting protein family. The encoded scaffold protein
binds to and mediates the trafficking and membrane organization of a number of transmembrane proteins.
Alternatively spliced transcript variants encoding different isoforms have been described. (provided by RefSeq,
May 2010)

GeneCards Summary for GRIP1 Gene:
GRIP1 (glutamate receptor interacting protein 1) is a protein-coding gene. Diseases associated with GRIP1 include grip1-related fraser syndrome, and cryptophthalmos. GO annotations related to this gene include transcription coactivator activity and beta-catenin binding.

UniProtKB/Swiss-Prot: GRIP1_HUMAN, Q9Y3R0
Function: 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

Gene Wiki entry for GRIP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GRIP1 gene promoter:
         COUP-TF1   COUP   HNF-4alpha2   Tal-1beta   HNF-4alpha1   AREB6   S8   COUP-TF   ITF-2   FOXO1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for GRIP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GRIP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q14.3   Ensembl cytogenetic band:  12q14.3   HGNC cytogenetic band: 12q13.13

GRIP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GRIP1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M066741:  view genomic region     (about GC identifiers)

Start:
66,741,211 bp from pter      End:
67,197,966 bp from pter
Size:
456,756 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GRIP1_HUMAN, Q9Y3R0 (See protein sequence)
Recommended Name: Glutamate receptor-interacting protein 1  
Size: 1128 amino acids; 122422 Da
Subunit: Interacts with EPHA7, EPHB2, KIF5A, KIF5B, KIF5C, GRIA2, GRIA3, GRIPAP1/GRASP1, PPFIA1, PPFIA4, FRAS1,
PLCD4, PTPRF and liprins-alpha. Can form homomultimers or heteromultimers with GRIP2. Forms a ternary complex
with GRIA2 and CSPG4 (By similarity). Interacts with ATAD1 in an ATP-dependent manner. ATAD1-catalyzed ATP
hydrolysis disrupts binding to ATAD1 and to GRIA2 and leads to AMPAR complex disassembly (By similarity).
Interacts with EFNB1, EFNB3 and the C-terminal tail of PRLHR. Interacts with SLC30A9 (By similarity)
1 PDB 3D structure from and Proteopedia for GRIP1:
2JIL (3D)    
Secondary accessions: C9JT59 Q1RLM0
Alternative splicing: 3 isoforms:  Q9Y3R0-1   Q9Y3R0-2   Q9Y3R0-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GRIP1: NX_Q9Y3R0

Explore proteomics data for GRIP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GRIP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001171545.1  NP_066973.2  

    ENSEMBL proteins: 
     ENSP00000381098   ENSP00000439053   ENSP00000443006   ENSP00000446047   ENSP00000446024  
     ENSP00000446011   ENSP00000443860   ENSP00000440918   ENSP00000439124   ENSP00000438500  
     ENSP00000443392   ENSP00000438921   ENSP00000446067   ENSP00000352780   ENSP00000286445  
    Reactome Protein details: Q9Y3R0

    GRIP1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for GRIP1
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    Novus Biologicals GRIP1 Protein
    Novus Biologicals GRIP1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GRIP1

     
    Search eBioscience for Proteins for GRIP1 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR001478 PDZ

    Graphical View of Domain Structure for InterPro Entry Q9Y3R0

    ProtoNet protein and cluster: Q9Y3R0

    1 Blocks protein domain: IPB001478 PDZ/DHR/GLGF domain

    UniProtKB/Swiss-Prot: GRIP1_HUMAN, Q9Y3R0
    Domain: PDZ 6 mediates interaction with the PDZ recognition motif of EFNB1 and EPHB2 and with the C-terminus of
    PPFIA1 and PPFIA4. PDZ 4 and PDZ 5 mediate interaction with the C-terminus of GRIA2 and GRIA3. PDZ 4, PDZ 5 and
    PDZ 6 mediate homomultimers. PDZ 7 mediates interaction with PDZ domain of GRASP1. PDZ 7 domain binds CSPG4. PDZ
    6 mediates interaction with the C-terminus of liprins-alpha. PDZ 1, PDZ 2 and PDZ 3 mediate interaction with the
    PDZ-binding motif of FRAS1 (By similarity). PDZ 4 and PDZ 5 mediate interaction with PRLHR
    Similarity: Contains 7 PDZ (DHR) domains


    Find genes that share domains with GRIP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GRIP1_HUMAN, Q9Y3R0
    Function: 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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity NAS15572661
    GO:0005515protein binding IPI11641419
    GO:0008013beta-catenin binding TAS16344550
    GO:0008022protein C-terminus binding IPI16344550
    GO:0030159receptor signaling complex scaffold activity NAS10197531
         
    Find genes that share ontologies with GRIP1           About GenesLikeMe


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Grip1):
     cardiovascular system  embryogenesis  growth/size/body  homeostasis/metabolism  integument 
     limbs/digits/tail  mortality/aging  nervous system  renal/urinary system  vision/eye 

    Find genes that share phenotypes with GRIP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Grip1tm1Rha for GRIP1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GRIP1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GRIP1

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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GRIP1 (see all 44):
    hsa-miR-548j hsa-miR-361-5p hsa-miR-429 hsa-miR-548k hsa-miR-29a hsa-let-7a-2* hsa-miR-218 hsa-miR-548l
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GRIP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GRIP1
    Addgene plasmids for GRIP1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GRIP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GRIP1_HUMAN, Q9Y3R0: Cytoplasmic vesicle. Endoplasmic reticulum. Cell junction, synapse, postsynaptic cell
    membrane (By similarity). Note=Cytoplasmic and membrane-associated with vesicles, peri-Golgi complexes and
    endoplasmic reticulum. Enriched in postsynaptic plasma membrane and postsynaptic densities (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol4
    plasma membrane3
    cytoskeleton2
    endosome2
    golgi apparatus2
    mitochondrion2
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IEA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--
    GO:0016023cytoplasmic membrane-bounded vesicle IEA--
    GO:0030054cell junction IEA--

    Find genes that share ontologies with GRIP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GRIP1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    2Trafficking of AMPA receptors
    Trafficking of AMPA receptors1.00
    Trafficking of GluR2-containing AMPA receptors0.00
    Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity1.00
    3Apoptotic Pathways in Synovial Fibroblasts
    Nuclear Receptor Activation by Vitamin-A0.57
    4PEDF Induced Signaling
    Glucocorticoid Receptor Signaling0.43
    5Assembly of RNA Polymerase-II Initiation Complex
    Crosstalk Between CARM1 and ESRs0.39


    Find genes that share SuperPaths with GRIP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GRIP1
        Nuclear Receptor Activation by Vitamin-A
    Glucocorticoid Receptor Signaling
    Crosstalk Between CARM1 and ESRs

    1 BioSystems Pathway for GRIP1
        BDNF signaling pathway

    1 Reactome Pathway for GRIP1
        Trafficking of GluR2-containing AMPA receptors


        Pathway & Disease-focused RT2 Profiler PCR Array including GRIP1: 
              Synaptic Plasticity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GRIP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GRIP1 (Q9Y3R01, 2, 3 ENSP000003810984) via UniProtKB, MINT, STRING, and/or I2D (see all 125)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000239836P280651, 2, 3, ENSP000003968134EBI-5349621,EBI-603300 MINT-3291791 MINT-3291896 MINT-3291398 I2D: score=1 STRING: ENSP00000396813
    ENSG00000240118P280651, 2, 3EBI-5349621,EBI-603300 MINT-3291791 MINT-3291896 MINT-3291398 I2D: score=1 
    ENSG00000240508P280651, 2, 3EBI-5349621,EBI-603300 MINT-3291791 MINT-3291896 MINT-3291398 I2D: score=1 
    ENSG00000242711P280651, 2, 3EBI-5349621,EBI-603300 MINT-3291791 MINT-3291896 MINT-3291398 I2D: score=1 
    ENSG00000243067P280651, 2, 3EBI-5349621,EBI-603300 MINT-3291791 MINT-3291896 MINT-3291398 I2D: score=1 
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    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007268synaptic transmission TAS--
    GO:0008104protein localization IEA--
    GO:0030521androgen receptor signaling pathway NAS15572661
    GO:0035556intracellular signal transduction NAS10197531
    GO:0045893positive regulation of transcription, DNA-templated NAS15572661

    Find genes that share ontologies with GRIP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GRIP1

    9 Novoseek inferred chemical compound relationships for GRIP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamate 68.8 52 17093100 (2), 16157387 (2), 17121843 (2), 11641419 (1) (see all 33)
    alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid 49.9 1 9768844 (1)
    nmda 49.3 3 10414325 (1), 18160640 (1), 9687358 (1)
    1,25 dihydroxy vitamin d3 28.5 1 14726489 (1)
    okadaic acid 24.7 2 11641419 (1)
    steroid 23.3 5 16547076 (1), 12060666 (1), 15313931 (1)
    kainate 13.8 3 12597860 (2), 12941441 (1)
    tyrosine 10.1 2 11931740 (1), 19534761 (1)
    serine 7.58 3 17303296 (1)



    Find genes that share compounds with GRIP1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GRIP1 gene (2 alternative transcripts): 
    NM_001178074.1  NM_021150.3  

    Unigene Cluster for GRIP1:

    Glutamate receptor interacting protein 1
    Hs.505946  [show with all ESTs]
    Unigene Representative Sequence: NM_021150
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000398016 ENST00000538164 ENST00000540854 ENST00000538211(uc001stl.1)
    ENST00000535323 ENST00000540433(uc010sta.1) ENST00000536215 ENST00000541299
    ENST00000542021 ENST00000543172 ENST00000535002 ENST00000545666 ENST00000542309
    ENST00000539540 ENST00000541947 ENST00000538373 ENST00000359742(uc001stk.3)
    ENST00000286445(uc001stj.3 uc001stm.3)
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    hsa-miR-548j hsa-miR-361-5p hsa-miR-429 hsa-miR-548k hsa-miR-29a hsa-let-7a-2* hsa-miR-218 hsa-miR-548l
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    Addgene plasmids for GRIP1 
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      QuantiTect SYBR Green Assays in human, mouse, rat GRIP1
      QuantiFast Probe-based Assays in human, mouse, rat GRIP1

    Additional mRNA sequence: 

    AF074996.1 AJ133439.1 AK095519.1 AK295565.1 AK307576.1 BC029871.1 BC115393.1 BC115394.1 

    6 DOTS entries:

    DT.100751109  DT.453167  DT.121159566  DT.95256235  DT.40131604  DT.121159564 

    1 AceView cDNA sequence:

    BX281923 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for GRIP1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b · 23c
    SP1:                                                                                                                          -                                 
    SP2:                                      -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            


    ECgene alternative splicing isoforms for GRIP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GRIP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTATTTATCG
    GRIP1 Expression
    About this image

    GRIP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GRIP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.505946
        Pathway & Disease-focused RT2 Profiler PCR Array including GRIP1: 
              Synaptic Plasticity in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GRIP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for GRIP1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Grip11 , 5 glutamate receptor interacting protein 11, 5 88.93(n)1
    95.94(a)1
      10 (67.33 cM)5
    740531  NM_001277294.11  NP_001264223.11 
     1194540345 
    chicken
    (Gallus gallus)
    Aves GRIP11 glutamate receptor interacting protein 1 81.3(n)
    89.61(a)
      427863  XM_425437.3  XP_425437.3 
    lizard
    (Anolis carolinensis)
    Reptilia GRIP16
    glutamate receptor interacting protein 1
    84(a)
    1 ↔ 1
    GL343256.1(377964-543894)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia grip11 glutamate receptor interacting protein 1 76.8(n)
    84.7(a)
      100485584  XM_004912931.1  XP_004912988.1 
    zebrafish
    (Danio rerio)
    Actinopterygii grip11 glutamate receptor interacting protein 1 71.82(n)
    80.87(a)
      558006  NM_001044851.1  NP_001038316.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Grip6
    Glutamate receptor binding protein
    6(a)
    1 ↔ 1
    X(5860314-5880729)


    ENSEMBL Gene Tree for GRIP1 (if available)
    TreeFam Gene Tree for GRIP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GRIP1 gene
    11 SIMAP similar genes for GRIP1 using alignment to 14 protein entries:     GRIP1_HUMAN (see all proteins):
    LGALS12    GRIP2    IL16    DLG2    LGALS7    LGALS7B
    TJP2    DLG4    PDLIM7    MPDZ    LGALS2

    Find genes that share paralogs with GRIP1           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for GRIP1
    PGOHUM00000259815 PGOHUM00000259816


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GRIP1 (see all 7000)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs11683501,2
    C,H--63804780(-) ATGTCA/GAAAAA 2 -- int1 trp36Minor allele frequency- G:0.00WA NA CSA 13
    rs1484530321,2
    C--63804780(+) TTTTTC/-GACAT 2 -- int12Minor allele frequency- -:0.01MN CSA 186
    rs111761571,2
    A--63807727(+) CATATA/GTGTAT 2 -- int11Minor allele frequency- G:0.00NA 2
    rs1920797261,2
    --63807728(+) ATATAA/TGTATA 2 -- int10--------
    rs17955331,2
    C,H--63807750(+) GTGTCC/TATATA 2 -- int10--------
    rs345627461,2
    C--63822512(+) GAAACAT/-GTGTT 2 -- int11Minor allele frequency- -:0.50CSA 2
    rs2016244781,2
    C--63822512(+) GAAACA/GTGTGT 2 -- int10--------
    rs1998995751,2
    C--63822513(-) AACACA/GTGTTT 2 -- int10--------
    rs1436396901,2
    C--63855235(+) AACAA-/ACAG  
            
    ACAAA
    2 -- int10--------
    rs73075061,2
    C,A,H--63855238(+) aaacaG/Aacaaa 2 -- int11Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for GRIP1 (66741211 - 66991211 bp, first 250kb of GRIP1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GRIP1 (see all 26):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674648CNV Deletion23128226
    esv2678667CNV Deletion23128226
    esv2665166CNV Deletion23128226
    esv268302CNV Insertion20981092
    esv273038CNV Insertion20981092
    esv273201CNV Insertion20981092
    esv270552CNV Insertion20981092
    esv28890CNV Loss19812545
    nsv527057CNV Loss19592680
    esv33058CNV Loss17666407

    Human Gene Mutation Database (HGMD): GRIP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GRIP1
    DNA2.0 Custom Variant and Variant Library Synthesis for GRIP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604597   
    OMIM disorders: 219000  
    UniProtKB/Swiss-Prot: GRIP1_HUMAN, Q9Y3R0
  • Fraser syndrome (FRASS) [MIM:219000]: Multisystem malformation usually comprising cryptophthalmos,
    cutaneous syndactyly, ear abnormalities, renal agenesis and congenital heart defects. Note=The disease may be
    caused by mutations affecting the gene represented in this entry

  • 3 diseases for GRIP1:    
    About MalaCards
    grip1-related fraser syndrome    cryptophthalmos    fraser syndrome


    Find genes that share disorders with GRIP1           About GenesLikeMe

    7 Novoseek inferred disease relationships for GRIP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fraser syndrome 78.2 5 18155042 (2)
    cryptophthalmos 72.5 2 14730302 (1)
    renal agenesis 46.9 2 14730302 (1)
    syndactyly 44.1 2 14730302 (1)
    genetic disorder 21.6 1 18155042 (1)
    schizophrenia 0 13 17303296 (6), 15696539 (1)
    breast cancer 0 1 15313931 (1)

    Genetic Association Database (GAD): GRIP1
    Human Genome Epidemiology (HuGE) Navigator: GRIP1 (18 documents)

    Export disorders for GRIP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GRIP1 gene, integrated from 10 sources (see all 131):
    (articles sorted by number of sources associating them with GRIP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. EphrinB ligands recruit GRIP family PDZ adaptor proteins into raft membrane microdomains. (PubMed id 10197531)1, 2, 3, 9 Brueckner K....Klein R. (Neuron 1999)
    2. No association of GRIP1 gene polymorphisms with schizophrenia in Chinese population. (PubMed id 17303296)1, 4, 9 Tsai S.J....Hong C.J. (amp 2007)
    3. The carboxyl terminus of the prolactin-releasing peptide receptor interacts with PDZ domain proteins involved in alpha-amino-3-hydroxy- 5-methylisoxazole-4-propionic acid receptor clustering. (PubMed id 11641419)1, 2, 9 Lin S.H.S.... Civelli O. (Mol. Pharmacol. 2001)
    4. Mutations in GRIP1 cause Fraser syndrome. (PubMed id 22510445)1, 2 Vogel M.J.... van Haelst M.M. (J. Med. Genet. 2012)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. (PubMed id 18950845)1, 4 Vega A....Carracedo A. (Gynecol. Oncol. 2009)
    7. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    8. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. (PubMed id 19736351)1, 4 Guilmatre A....Campion D. (Arch. Gen. Psychiatry 2009)
    9. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)1, 2 Scherer S.E.... Gibbs R.A. (Nature 2006)
    10. Supramodular nature of GRIP1 revealed by the structure of its PDZ12 tandem in complex with the carboxyl tail of Fras1. (PubMed id 18155042)1, 9 Long J....Zhang M. (J. Mol. Biol. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23426 HGNC: 18708 AceView: GRIP1.2 Ensembl:ENSG00000155974 euGenes: HUgn23426
    ECgene: GRIP1 H-InvDB: GRIP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GRIP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GRIP1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for GRIP1 gene:
    Search GeneIP for patents involving GRIP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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