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RASGRP1 Gene

protein-coding   GIFtS: 67
GCID: GC15M038780

RAS Guanyl Releasing Protein 1 (Calcium And DAG-Regulated)

  See RASGRP1-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
RAS Guanyl Releasing Protein 1 (Calcium And DAG-Regulated)1 2     hRasGRP12
Calcium And DAG-Regulated Guanine Nucleotide Exchange Factor II2 3     Ras Activator RasGRP2
RASGRP2 3     RAS Guanyl Nucleotide-Releasing Protein 12
CALDAG-GEFI2     RAS Guanyl-Releasing Protein 12
CALDAG-GEFII2     CalDAG-GEFII3
V2     Ras Guanyl-Releasing Protein3
Guanine Nucleotide Exchange Factor, Calcium- And DAG-Regulated, Rap1A2     

External Ids:    HGNC: 98781   Entrez Gene: 101252   Ensembl: ENSG000001725757   OMIM: 6039625   UniProtKB: O952673   

Export aliases for RASGRP1 gene to outside databases

Previous GC identifers: GC15M034123 GC15M031676 GC15M036359 GC15M036496 GC15M036567 GC15M015624


(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 RASGRP1 Gene:
This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide
exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor
specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade
and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript
variants encoding different isoforms have been identified. Altered expression of the different isoforms of this
protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). (provided by RefSeq, Jul 2008)

GeneCards Summary for RASGRP1 Gene:
RASGRP1 (RAS guanyl releasing protein 1 (calcium and DAG-regulated)) is a protein-coding gene. Diseases associated with RASGRP1 include leukocyte adhesion deficiency, and systemic lupus erythematosus. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and calcium ion binding. An important paralog of this gene is UNC13C.

UniProtKB/Swiss-Prot: GRP1_HUMAN, O95267
Function: Functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras
through the exchange of bound GDP for GTP. Activates the Erk/MAP kinase cascade. Couples T-lymphocytes and
B-lymphocytes antigen receptors to the activation of Ras. Hence, regulates T-cells and B-cells development,
homeostasis and differentiation. Functions also in FcERI-evoked degranulation and cytokine secretion by mast
cells, regulating allergic responses. May also function in other cell types differentiation

Gene Wiki entry for RASGRP1 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_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RASGRP1 gene promoter:
         E2F-4   E2F-3a   E2F-5   FOXO3   E2F-2   C/EBPalpha   PPAR-gamma1   E2F   E2F-1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRASGRP1 promoter sequence
   Search Chromatin IP Primers for RASGRP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RASGRP1


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

Entrez Gene cytogenetic band: 15q14   Ensembl cytogenetic band:  15q14   HGNC cytogenetic band: 15q15

RASGRP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RASGRP1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M038780:  view genomic region     (about GC identifiers)

Start:
38,780,302 bp from pter      End:
38,857,776 bp from pter
Size:
77,475 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: GRP1_HUMAN, O95267 (See protein sequence)
Recommended Name: RAS guanyl-releasing protein 1  
Size: 797 amino acids; 90402 Da
Subunit: Forms a signaling complex with DGKZ and HRAS. Interacts with F-actin. Interacts with SKAP1
Developmental stage: Expressed in fetal brain and kidney
Sequence caution: Sequence=AAH67298.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;
2 PDB 3D structures from and Proteopedia for RASGRP1:
4L9M (3D)        4L9U (3D)    
Secondary accessions: Q56CZ0 Q58G75 Q59HB1 Q5I3A8 Q6GV31 Q6NX39 Q7LDG6 Q9UI94 Q9UNN9
Alternative splicing: 5 isoforms:  O95267-1   O95267-2   O95267-3   O95267-4   O95267-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RASGRP1: NX_O95267

Explore proteomics data for RASGRP1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys596
  • Modification sites at PhosphoSitePlus

  • See RASGRP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001122074.1  NP_005730.2  

    ENSEMBL proteins: 
     ENSP00000310244   ENSP00000453583   ENSP00000452859   ENSP00000388540   ENSP00000452721  
     ENSP00000413105   ENSP00000454164   ENSP00000453729   ENSP00000454053   ENSP00000453905  
     ENSP00000454005   ENSP00000452892   ENSP00000444762  
    Reactome Protein details: O95267

    RASGRP1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for RASGRP1

     
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    Cloud-Clone Corp. ELISAs for RASGRP1
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    Search eBioscience for ELISAs for RASGRP1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    Selected InterPro protein domains (see all 9):
     IPR008937 Ras_GEF
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR020454 DAG/PE-bd
     IPR023578 Ras_GEF_dom

    Graphical View of Domain Structure for InterPro Entry O95267

    ProtoNet protein and cluster: O95267

    1 Blocks protein domain: IPB001895 Guanine-nucleotide dissociation stimulator CDC25

    UniProtKB/Swiss-Prot: GRP1_HUMAN, O95267
    Domain: The phorbol-ester/DAG-type zinc finger is the principal mediator of the targeting to membranes and is
    required for functional activation through DAG-binding
    Similarity: Belongs to the RASGRP family
    Similarity: Contains 2 EF-hand domains
    Similarity: Contains 1 N-terminal Ras-GEF domain
    Similarity: Contains 1 phorbol-ester/DAG-type zinc finger
    Similarity: Contains 1 Ras-GEF domain


    Find genes that share domains with RASGRP1           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: GRP1_HUMAN, O95267
    Function: Functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras
    through the exchange of bound GDP for GTP. Activates the Erk/MAP kinase cascade. Couples T-lymphocytes and
    B-lymphocytes antigen receptors to the activation of Ras. Hence, regulates T-cells and B-cells development,
    homeostasis and differentiation. Functions also in FcERI-evoked degranulation and cytokine secretion by mast
    cells, regulating allergic responses. May also function in other cell types differentiation
    Enzyme regulation: Probably regulated by calcium (By similarity). Regulated by PLC gamma, DGKA, DGKZ and by
    F-actin polymerization

         Genatlas biochemistry entry for RASGRP1:
    guanine nucleotide releasing (exchange) protein 1,RAS activator,calcium and DAG-regulated,expressed in the nervous
    system

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity TAS--
    GO:0005509calcium ion binding IEA--
    GO:0008289lipid binding TAS9582122
         
    Find genes that share ontologies with RASGRP1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for RASGRP1:
     Lamellipodia cells 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rasgrp1):
     hematopoietic system  immune system  liver/biliary system  renal/urinary system 

    Find genes that share phenotypes with RASGRP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rasgrp1tm1Jstn for RASGRP1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RASGRP1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RASGRP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RASGRP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RASGRP1

    miRNA
    Products:
        
    miRTarBase miRNAs that target RASGRP1:
    hsa-mir-125b-5p (MIRT045953), hsa-mir-335-5p (MIRT018006), hsa-mir-21-5p (MIRT000019)

    Block miRNA regulation of human, mouse, rat RASGRP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RASGRP1 (see all 26):
    hsa-miR-3200-5p hsa-let-7d hsa-miR-202 hsa-miR-548k hsa-miR-487a hsa-let-7c hsa-miR-374a* hsa-miR-511
    SwitchGear 3'UTR luciferase reporter plasmidRASGRP1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RASGRP1

    Gene Editing
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    Clone
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RASGRP1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RASGRP1


    (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
    GRP1_HUMAN, O95267: Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein. Golgi apparatus membrane;
    Peripheral membrane protein. Endoplasmic reticulum membrane; Peripheral membrane protein. Note=Found both in the
    cytosol and associated with membranes. Relocalization to the cell membrane upon activation is F-actin-dependent.
    Translocates to the Golgi in response to phorbol ester or nerve growth factor. Localizes to somata and dendrites
    but not to axons of hippocampal pyramidal cells (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endoplasmic reticulum5
    golgi apparatus5
    plasma membrane5
    nucleus3

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005622intracellular ----
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--

    Find genes that share ontologies with RASGRP1           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 RASGRP1 About   (see all 24)  
    See pathways by source

    SuperPathContained pathways About
    1MAPK signaling pathway
    MAPK signaling pathway0.50
    MAPK signaling pathway0.50
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    3Downstream Signaling Events Of B Cell Receptor (BCR)
    Downstream Signaling Events Of B Cell Receptor (BCR)0.79
    Activation of RAS in B Cells0.00
    Signaling by the B Cell Receptor (BCR)0.79
    4Gastrin-CREB signalling pathway via PKC and MAPK
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    5Integrin alphaIIb beta3 signaling
    Integrin alphaIIb beta3 signaling0.73
    Platelet Aggregation (Plug Formation)0.73


    Find genes that share SuperPaths with RASGRP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for RASGRP1
        ITK and TCR Signaling
    Molecular Mechanisms of Cancer
    Rap1 Pathway

    Selected GeneGo (Thomson Reuters) Pathways for RASGRP1 (see all 7)
        G-protein signaling H-RAS regulation pathway
    G-protein signaling TC21 regulation pathway
    G-protein signaling M-RAS regulation pathway
    G-protein signaling K-RAS regulation pathway
    Immune response T cell receptor signaling pathway

    4 BioSystems Pathways for RASGRP1
        MAPK signaling pathway
    Serotonin Receptor 2 and ELK-SRF/GATA4 signaling
    TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD8+ T cells

    5 Reactome Pathways for RASGRP1
        Effects of PIP2 hydrolysis
    Integrin alphaIIb beta3 signaling
    FCERI mediated NF-kB activation
    Activation of RAS in B cells
    Rap1 signalling


    3 Kegg Pathways  (Kegg details for RASGRP1):
        MAPK signaling pathway
    Ras signaling pathway
    T cell receptor signaling pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RASGRP1
    Interactions:

        Search GeneGlobe Interaction Network for RASGRP1

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

    Selected Interacting proteins for RASGRP1 (O952672, 3 ENSP000003102444) via UniProtKB, MINT, STRING, and/or I2D (see all 55)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DGKZQ135743, ENSP000003203404I2D: score=3 STRING: ENSP00000320340
    HRASP011123, ENSP000003098454I2D: score=2 STRING: ENSP00000309845
    PPM1BO756883, ENSP000002824124I2D: score=2 STRING: ENSP00000282412
    VHLP403373I2D: score=2 
    APBB1IPENSP000003654114STRING: ENSP00000365411
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001816cytokine production IEA--
    GO:0002437inflammatory response to antigenic stimulus IEA--
    GO:0007165signal transduction TAS9789079
    GO:0007264small GTPase mediated signal transduction ----
    GO:0007265Ras protein signal transduction TAS9582122

    Find genes that share ontologies with RASGRP1           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 RASGRP1 (GRP1)

    Selected HMDB Compounds for RASGRP1 (see all 845)    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----
    DG(14:0/18:2(9Z,12Z)/0:0)DAG(14:0/18:2n6) (see all 15)----

    3 Novoseek inferred chemical compound relationships for RASGRP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bryostatin 1 76.2 3 15588099 (1), 10779365 (1), 10807788 (1)
    calcium 31.2 14 9582122 (3), 9789079 (2), 10807788 (2), 11503142 (1) (see all 7)
    lipid 1.16 2 17523924 (1), 10779365 (1)



    Find genes that share compounds with RASGRP1           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 RASGRP1 gene (2 alternative transcripts): 
    NM_001128602.1  NM_005739.3  

    Unigene Cluster for RASGRP1:

    RAS guanyl releasing protein 1 (calcium and DAG-regulated)
    Hs.591127  [show with all ESTs]
    Unigene Representative Sequence: AF081195
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000310803(uc010bbe.3 uc010bbf.3 uc010bbg.3 uc001zke.4 uc001zkd.4)
    ENST00000558432 ENST00000561180 ENST00000450598 ENST00000559830 ENST00000414708
    ENST00000558164 ENST00000557875 ENST00000560425 ENST00000558418 ENST00000561117
    ENST00000560929 ENST00000539159
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    hsa-miR-3200-5p hsa-let-7d hsa-miR-202 hsa-miR-548k hsa-miR-487a hsa-let-7c hsa-miR-374a* hsa-miR-511
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      QuantiFast Probe-based Assays in human, mouse, rat RASGRP1

    Additional mRNA sequence: 

    AB208848.1 AF081195.1 AF081197.1 AF106071.1 AK295097.1 AK314091.1 AK316067.1 AY634315.2 
    AY858556.2 AY954625.4 AY966005.1 BC032849.1 BC067298.1 BC109296.1 BC109297.1 

    9 DOTS entries:

    DT.452069  DT.91786977  DT.121054866  DT.95257426  DT.121054783  DT.100861292  DT.91744312  DT.91744313 
    DT.40197398 

    Selected AceView cDNA sequences (see all 79):

    BX456903 Z43707 BQ049446 AA688183 AA742351 AI698379 AA731879 BG744494 
    NM_005739 Z39766 BG778473 AA278696 AW965045 BC067298 AA043685 AA251642 
    BM704085 AA283882 AA884877 AA043684 BM918122 AF081197 AA278633 BU729996 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RASGRP1 (see all 11)    About this scheme

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

    ExUns: 18 ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:              -     -                     
    SP5:                                          


    ECgene alternative splicing isoforms for RASGRP1

    (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)
    About This Section

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    RASGRP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGCTAGTGG
    RASGRP1 Expression
    About this image


    RASGRP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
     
     Thymus (Hematopoietic System)
             Double Negative 3 Thymocytes Thymus
     
     Adipose (Muscoskeletal System)
             Body Subcutaneous White Adipose
    RASGRP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RASGRP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591127

    UniProtKB/Swiss-Prot: GRP1_HUMAN, O95267
    Tissue specificity: Expressed in brain with higher expression in cerebellum, cerebral cortex and amygdala.
    Expressed in the hematopoietic system. Expressed in T-cells (at protein level)

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for RASGRP1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rasgrp11 , 5 RAS guanyl releasing protein 11, 5 86.84(n)1
    90.79(a)1
      2 (59.19 cM)5
    194191  NM_011246.21  NP_035376.11 
     1172799935 
    chicken
    (Gallus gallus)
    Aves RASGRP11 RAS guanyl releasing protein 1 (calcium and DAG-regulated) 71.16(n)
    74.81(a)
      423290  XM_004941733.1  XP_004941790.1 
    lizard
    (Anolis carolinensis)
    Reptilia RASGRP16
    RAS guanyl releasing protein 1 (calcium and DAG-re...
    76(a)
    1 ↔ 1
    1(32678576-32713448)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.182012 Transcribed sequence with weak similarity to protein more 78.46(n)    AL962936.2 
    zebrafish
    (Danio rerio)
    Actinopterygii rasgrp41 RAS guanyl releasing protein 4 61.59(n)
    58.61(a)
      558453  NM_001044862.1  NP_001038327.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F25B3.33 phorbol ester and DAG binding domain 37(a)   V(9559306-9564198)   --


    ENSEMBL Gene Tree for RASGRP1 (if available)
    TreeFam Gene Tree for RASGRP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RASGRP1 gene
    UNC13C2  RASGRP42  UNC13A2  RASGRP22  UNC13B2  RASGRP32  
    7 SIMAP similar genes for RASGRP1 using alignment to 9 protein entries:     GRP1_HUMAN (see all proteins):
    RASGRP3    RASGRP4    RASGRP2    PRKCH    PRKD1    PRKD2
    DKFZp781H1715

    Find genes that share paralogs with RASGRP1           About GenesLikeMe



    (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 RASGRP1 (see all 1544)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs349295591,2
    C--15640840(+) CCTAT-/AACAGC 2 -- int11Minor allele frequency- A:0.50NA 2
    rs356152871,2
    C--15691008(+) ATCTCT/-GGAGT 2 -- int13Minor allele frequency- -:0.17NA CSA 6
    rs798301461,2
    --15691008(+) ATCTCG/TGGAGT 2 -- int10--------
    rs113488491,2
    C--15692543(+) ACCTGC/-CTATT 2 -- int11Minor allele frequency- -:0.50CSA 2
    rs1464421551,2
    --18847263(+) GGTCTA/GTAACC 2 -- ds50010--------
    rs773342881,2
    C,F--18847335(+) AGTTTG/CCTTAG 2 -- ds50011Minor allele frequency- C:0.10WA 118
    rs798117671,2
    C,F--18847413(+) ATTTAT/CAGACT 2 -- ds50011Minor allele frequency- C:0.09WA 118
    rs620029561,2
    C,F--18847491(+) TTCTTC/TGTGTT 2 -- ds50011Minor allele frequency- T:0.02NA 120
    rs1807584341,2
    --18847492(+) TCTTCA/GTGTTG 2 -- ds50010--------
    rs1390139741,2
    --18847572(+) TAATAC/GAATAG 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for RASGRP1 (38780302 - 38857776 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for RASGRP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749578CNV Deletion23290073
    nsv525770CNV Gain19592680
    nsv904086CNV Gain21882294
    nsv904085CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603962    OMIM disorders: --

    UniProtKB/Swiss-Prot: GRP1_HUMAN, O95267
  • Systemic lupus erythematosus (SLE) [MIM:152700]: A chronic, relapsing, inflammatory, and often febrile
    multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints,
    kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory
    mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated
    erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry. Aberrantly spliced
    isoforms and/or diminished levels of RASGRP1 are found in a cohort of SLE patients raising the possibility that
    dysregulation of this signaling protein contributes to the development of autoimmunity in a subset of SLE
    patients

  • 2 diseases for RASGRP1:    
    About MalaCards
    leukocyte adhesion deficiency    systemic lupus erythematosus

    1 disease from the University of Copenhagen DISEASES database for RASGRP1:
    Leukocyte adhesion deficiency

    Find genes that share disorders with RASGRP1           About GenesLikeMe

    Genetic Association Database (GAD): RASGRP1
    Human Genome Epidemiology (HuGE) Navigator: RASGRP1 (4 documents)

    Export disorders for RASGRP1 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 RASGRP1 gene, integrated from 10 sources (see all 69):
    (articles sorted by number of sources associating them with RASGRP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A Rap guanine nucleotide exchange factor enriched highly in the basal ganglia. (PubMed id 9789079)1, 2, 3, 9 Kawasaki H.... Graybiel A.M. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    2. RasGRP, a Ras activator: mouse and human cDNA sequences and chromosomal positions. (PubMed id 10087292)1, 2, 3, 9 Bottorff D.A.... Stone J.C. (Mamm. Genome 1999)
    3. Defective expression of ras guanyl nucleotide-releasing protein 1 in a subset of patients with systemic lupus erythematosus. (PubMed id 17878389)1, 2, 9 Yasuda S.... Koike T. (J. Immunol. 2007)
    4. Diacylglycerol kinase zeta regulates Ras activation by a novel mechanism. (PubMed id 11257115)1, 2, 9 Topham M.K. and Prescott S.M. (J. Cell Biol. 2001)
    5. Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. (PubMed id 21829393)1, 4 Plagnol V....Todd J.A. (PLoS Genet. 2011)
    6. Association of genetic polymorphisms with hepatotoxicity in patients with childhood acute lymphoblastic leukemia or lymphoma. (PubMed id 20670164)1, 4 Horinouchi M....Nakamura T. (Pediatr Hematol Oncol 2010)
    7. Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes. (PubMed id 18840781)1, 4 Grant S.F....Hakonarson H. (Diabetes 2009)
    8. Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies. (PubMed id 19465406)1, 4 Qu H.Q....Polychronakos C. (J. Med. Genet. 2009)
    9. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (Biol. Psychiatry 2009)
    10. SKAP55 modulates T cell antigen receptor-induced activation of the Ras-Erk-AP1 pathway by binding RasGRP1. (PubMed id 17658605)1, 2 Kosco K.A.... Mustelin T. (Mol. Immunol. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 10125 HGNC: 9878 AceView: RASGRP1 Ensembl:ENSG00000172575 euGenes: HUgn10125
    ECgene: RASGRP1 Kegg: 10125 H-InvDB: RASGRP1

    (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)
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    NameDescription
    PharmGKB entry for RASGRP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RASGRP1 gene:
    Search GeneIP for patents involving RASGRP1

    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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