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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GRIPAP1 Gene

protein-coding   GIFtS: 51
GCID: GC0XM048830

GRIP1 Associated Protein 1

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
GRIP1 Associated Protein 11 2
GRASP-12 3
KIAA11673 5
GRIP1-Associated Protein 12
GRASP15

External Ids:    HGNC: 187061   Entrez Gene: 568502   Ensembl: ENSG000000684007   OMIM: 3004085   UniProtKB: Q4V3283   

Export aliases for GRIPAP1 gene to outside databases

Previous GC identifers: GC0XM047632 GC0XM047090 GC0XM047876 GC0XM048586 GC0XM048715 GC0XM046487


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GRIPAP1 Gene:
This gene encodes a guanine nucleotide exchange factor for the Ras family of small G proteins (RasGEF). The
encoded protein interacts in a complex with glutamate receptor interacting protein 1 (GRIP1) and plays a role in
the regulation of AMPA receptor function. (provided by RefSeq, Aug 2013)

GeneCards Summary for GRIPAP1 Gene: 
GRIPAP1 (GRIP1 associated protein 1) is a protein-coding gene. Diseases associated with GRIPAP1 include neuronitis. GO annotations related to this gene include molecular_function.

Gene Wiki entry for GRIPAP1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_079573.4  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GRIPAP1 gene promoter:
         AML1a   Tal-1   NRSF form 1   MyoD   ZIC2/Zic2   LCR-F1   NRSF form 2   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGRIPAP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GRIPAP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GRIPAP1


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

Entrez Gene cytogenetic band: Xp11.23   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.23

GRIPAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GRIPAP1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM048830:  view genomic region     (about GC identifiers)

Start:
48,830,134 bp from pter      End:
48,858,675 bp from pter
Size:
28,542 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GRAP1_HUMAN, Q4V328 (See protein sequence)
Recommended Name: GRIP1-associated protein 1  
Size: 841 amino acids; 95990 Da
Subunit: Interacts with GRIP1, GRIP2 and AMPA receptors (By similarity)
Subcellular location: Early endosome
Miscellaneous: Antibodies against GRIPAP1 have been found in sera of a patient who developed Raynaud's syndrome
and telangiectasias
Secondary accessions: A6NL78 Q3MJ75 Q4V327 Q4V330 Q5HYG1 Q6N046 Q96DH8 Q9NQ43 Q9ULQ3
Alternative splicing: 4 isoforms:  Q4V328-1   Q4V328-2   Q4V328-3   Q4V328-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GRIPAP1: NX_Q4V328

Explore proteomics data for GRIPAP1 at MOPED 

Post-translational modifications:

  • UniProtKB: Proteolytically cleaved by caspase-3 (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q4V328

  • GRIPAP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GRIPAP1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_064522.3  NP_997555.1  

    ENSEMBL proteins: 
     ENSP00000365608   ENSP00000365627   ENSP00000365624   ENSP00000365606  

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    Cloud-Clone Corp. Proteins for GRIPAP1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005769early endosome IEA--

    GRIPAP1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR026204 GRIPAP1

    Graphical View of Domain Structure for InterPro Entry Q4V328

    ProtoNet protein and cluster: Q4V328


    GRIPAP1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    GRIPAP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GRIPAP1:
     Synthetic lethal with c-Myc af 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for GRIPAP1 
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    SwitchGear 3'UTR luciferase reporter plasmidGRIPAP1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GRIPAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/21 Interacting proteins for GRIPAP1 (Q4V3282, 3 ENSP000003656244) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARL15Q9NXU52, 3MINT-64622 I2D: score=5 
    DAXXQ9UER73I2D: score=2 
    ENSG00000206206Q9UER73I2D: score=2 
    ENSG00000206279Q9UER73I2D: score=2 
    ENSG00000227046Q9UER73I2D: score=2 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    GRIPAP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GRIPAP1 (GRAP1)

    Search CenterWatch for drugs/clinical trials and news about GRIPAP1 / GRAP1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GRIPAP1 gene (2 alternative transcripts): 
    NM_020137.4  NM_207672.1  

    Unigene Cluster for GRIPAP1:

    GRIP1 associated protein 1
    Hs.109929  [show with all ESTs]
    Unigene Representative Sequence: NM_207672
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376425 ENST00000376444 ENST00000376441(uc004dly.1) ENST00000473581(uc004dlz.3)
    ENST00000376423(uc004dma.3) ENST00000488361 ENST00000474512 ENST00000480041
    ENST00000495258
    miRNA
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    hsa-miR-3678-3p hsa-miR-362-3p hsa-miR-330-5p hsa-miR-575 hsa-miR-105 hsa-miR-4314 hsa-miR-654-5p hsa-miR-326
    SwitchGear 3'UTR luciferase reporter plasmidGRIPAP1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GRIPAP1
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    Additional mRNA sequence: 

    AB032993.1 AJ297364.1 AK292158.1 AL136847.1 BC001522.2 BC101544.1 BC101546.1 BC110636.1 
    BX640704.1 BX647801.1 BX647804.1 

    14 DOTS entries:

    DT.102845483  DT.86843797  DT.101982116  DT.456168  DT.101982115  DT.100754175  DT.95356952  DT.102845484 
    DT.92416203  DT.97788222  DT.102845303  DT.102826325  DT.75131568  DT.92067560 

    24/150 AceView cDNA sequences (see all 150):

    BX641578 NM_020137 AI638277 BU149446 BX640704 BI256557 AB032993 AW518228 
    NM_207672 BU789150 AW664647 AI799329 BU957619 BE550018 BQ892671 BU957641 
    AI922001 BU630226 AW118383 BQ006062 BQ877807 AW067991 CN481589 BC001522 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for GRIPAP1 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^
    SP1:                    -                       -           -                                                                                                   
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                      -                     
    SP4:                                                                                                                                                            
    SP5:                                                        -                                                                                                   

    ExUns: 21 ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26 ^ 27
    SP1:        -           -           -                     
    SP2:                                                      
    SP3:                                                      
    SP4:        -           -                                 
    SP5:                                                      


    ECgene alternative splicing isoforms for GRIPAP1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GRIPAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCAGCGTTC
    GRIPAP1 Expression
    About this image


    See GRIPAP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GRIPAP1

    SOURCE GeneReport for Unigene cluster: Hs.109929
        SABiosciences Custom PCR Arrays for GRIPAP1
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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for GRIPAP1 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gripap11 , 5 GRIP1 associated protein 11, 5 89.04(n)1
    93.67(a)1
      X (3.51 cM)5
    546451  NM_207670.11  NP_997553.11 
     77897655 
    lizard
    (Anolis carolinensis)
    Reptilia GRIPAP16
    Uncharacterized protein
    68(a)
    1 ↔ 1
    GL343326.1(984311-1082069)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.46262 Xenopus laevis transcribed sequence with moderate similarity more 81.68(n)    BJ074575.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gripap11 GRIP1 associated protein 1 67.35(n)
    67.96(a)
      791150  NM_001123320.1  NP_001116792.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F41H10.41 Protein F41H10.4 39.83(n)
    25.73(a)
      177317  NM_068389.2  NP_500790.1 


    ENSEMBL Gene Tree for GRIPAP1 (if available)
    TreeFam Gene Tree for GRIPAP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/390 SNPs in GRIPAP1 are shown (see all 390)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1451525141,2
    --48749573(+) GGCTGC/GTCAGC 1 -- ds50010--------
    rs30274801,2
    C,F--48749681(-) GAATAC/TGCTGG 1 -- ds50011Minor allele frequency- T:0.00CSA 1
    rs1903465901,2
    --48749871(+) TAAATC/TAAAAA 1 -- ut310--------
    rs1422639381,2
    --48750066(+) CTAGCA/CCCTTT 1 -- ut310--------
    rs1833511251,2
    C--48750154(+) AGGGGA/GTAGGA 1 -- ut310--------
    rs30274791,2
    C,F,H--48750192(-) CAGCTA/GAAGAC 2 * syn17Minor allele frequency- G:0.00NS EA NA 5198
    rs1454887751,2
    F--48750199(+) GCTGGT/CTTCTC 2 /T /A mis11Minor allele frequency- C:0.00NA 4526
    rs1484415371,2
    C--48750236(+) CCCACG/ACACTC 2 /C syn11Minor allele frequency- A:0.00NA 4542
    rs1930445821,2
    C--48750297(+) CAAATA/GAACCA 1 -- int10--------
    rs1996141031,2
    --48750333(+) TGCTCC/TCTTGC 1 -- int10--------

    HapMap Linkage Disequilibrium report for GRIPAP1 (48830134 - 48858675 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GRIPAP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv528292CNV Gain19592680
    esv32909CNV Gain+Loss17666407


    Locus Specific Mutation Databases (LSDB): GRIPAP1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GRIPAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for GRIPAP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300408    OMIM disorders: --

    2 diseases for GRIPAP1:    About MalaCards
    neuronitis    


    GRIPAP1 for disorders           About GeneDecksing


    Export disorders for GRIPAP1 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)
    About This Section

    PubMed articles for GRIPAP1 gene, integrated from 9 sources (see all 33):
    (articles sorted by number of sources associating them with GRIPAP1)
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    1. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    2. Identification of GRASP-1 as a novel 97 kDa autoantigen localized to endosomes. (PubMed id 15897011)1, 2 Stinton L.M.... Fritzler M.J. (2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. GRASP-1: a neuronal RasGEF associated with the AMPA receptor/GRIP complex. (PubMed id 10896157)1, 3 Ye B....Huganir R.L. (2000)
    5. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2 Hirosawa M.... Ohara O. (1999)
    6. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    7. A yeast two-hybrid screen reveals that osteopontin ass ociates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. (PubMed id 22779921)1 Long P....Rose S. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 56850 HGNC: 18706 AceView: GRIPAP1 Ensembl:ENSG00000068400 euGenes: HUgn56850
    ECgene: GRIPAP1 H-InvDB: GRIPAP1

    (According to HUGE)
    About This Section
    HUGE: KIAA1167

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GRIPAP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GRIPAP1 gene:
    Search GeneIP for patents involving GRIPAP1

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



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