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    RASGRP1 RAS guanyl releasing protein 1 [ Homo sapiens (human) ]

    Gene ID: 10125, updated on 3-Dec-2024

    Summary

    Official Symbol
    RASGRP1provided by HGNC
    Official Full Name
    RAS guanyl releasing protein 1provided by HGNC
    Primary source
    HGNC:HGNC:9878
    See related
    Ensembl:ENSG00000172575 MIM:603962; AllianceGenome:HGNC:9878
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IMD64; RASGRP; CALDAG-GEFI; CALDAG-GEFII
    Summary
    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]
    Expression
    Broad expression in lymph node (RPKM 12.0), brain (RPKM 10.5) and 15 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RASGRP1 in Genome Data Viewer
    Location:
    15q14
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (38488103..38564814, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (36293389..36370106, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (38780304..38857015, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6304 Neighboring gene MPRA-validated peak2297 silencer Neighboring gene sprouty related EVH1 domain containing 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:38679220-38679403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9203 Neighboring gene CTD small phosphatase 2 pseudogene Neighboring gene family with sequence similarity 98 member B Neighboring gene uncharacterized LOC105370774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6305 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6306 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6307 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:38857079-38857590 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:38885521-38886720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9211 Neighboring gene uncharacterized LOC105370775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9214 Neighboring gene long intergenic non-protein coding RNA 2694

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Immunodeficiency 64
    MedGen: C5231402 OMIM: 618534 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.
    EBI GWAS Catalog
    Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
    EBI GWAS Catalog
    Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
    EBI GWAS Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
    EBI GWAS Catalog
    Genome-wide association study of atypical psychosis.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC129998, MGC129999

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables diacylglycerol binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables guanyl-nucleotide exchange factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables lipid binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables phosphatidylcholine binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables zinc ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in B cell activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in B cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in Ras protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in Ras protein signal transduction TAS
    Traceable Author Statement
    more info
     
    involved_in T cell activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in T cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in activation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in activation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response to antigenic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mast cell degranulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in natural killer cell activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of MAP kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of Ras protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of T cell differentiation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of natural killer cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of natural killer cell mediated cytotoxicity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in secretory granule localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in vesicle transport along microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    RAS guanyl-releasing protein 1
    Names
    RAS guanyl nucleotide-releasing protein 1
    RAS guanyl releasing protein 1 (calcium and DAG-regulated)
    calcium and DAG-regulated guanine nucleotide exchange factor II
    calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II
    guanine nucleotide exchange factor, calcium- and DAG-regulated, Rap1A
    ras activator RasGRP

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023268.2 RefSeqGene

      Range
      4993..81704
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001128602.2NP_001122074.1  RAS guanyl-releasing protein 1 isoform b

      See identical proteins and their annotated locations for NP_001122074.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as variant A, lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (b), that is missing an internal segment compared to isoform a.
      Source sequence(s)
      AA742351, AC124306, AF081195, AK314091, BC109296, BU431038, DA993002
      Consensus CDS
      CCDS45221.1
      UniProtKB/TrEMBL
      B2RA89
      Related
      ENSP00000388540.2, ENST00000450598.6
      Conserved Domains (4) summary
      smart00147
      Location:201437
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:54175
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      pfam00130
      Location:507556
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      pfam13499
      Location:443492
      EF-hand_7; EF-hand domain pair
    2. NM_001306086.2NP_001293015.1  RAS guanyl-releasing protein 1 isoform c

      See identical proteins and their annotated locations for NP_001293015.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two internal exons one of which results in a frameshift compared to variant 1. The encoded protein (isoform c) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC116158, AC124306, AY858556, DA993002
      Consensus CDS
      CCDS76733.1
      UniProtKB/Swiss-Prot
      O95267
      Related
      ENSP00000452721.1, ENST00000559830.5
      Conserved Domains (4) summary
      smart00147
      Location:201437
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:54175
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      pfam00130
      Location:507556
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      pfam13499
      Location:443492
      EF-hand_7; EF-hand domain pair
    3. NM_005739.4NP_005730.2  RAS guanyl-releasing protein 1 isoform a

      See identical proteins and their annotated locations for NP_005730.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a).
      Source sequence(s)
      AA742351, AC124306, AF081195, AK314091, BC109296, BU431038, DA993002
      Consensus CDS
      CCDS45222.1
      UniProtKB/Swiss-Prot
      O95267, Q56CZ0, Q58G75, Q59HB1, Q5I3A8, Q6GV31, Q6NX39, Q7LDG6, Q9UI94, Q9UNN9
      UniProtKB/TrEMBL
      B2RA89
      Related
      ENSP00000310244.5, ENST00000310803.10
      Conserved Domains (5) summary
      smart00147
      Location:201437
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:54175
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      pfam00130
      Location:542591
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      pfam13499
      Location:478527
      EF-hand_7; EF-hand domain pair
      cl21462
      Location:734780
      bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      38488103..38564814 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432074.1XP_047288030.1  RAS guanyl-releasing protein 1 isoform X2

      UniProtKB/TrEMBL
      B2RA89
      Related
      ENSP00000513436.1, ENST00000697780.1
    2. XM_047432075.1XP_047288031.1  RAS guanyl-releasing protein 1 isoform X3

      UniProtKB/TrEMBL
      B2RA89
    3. XM_047432076.1XP_047288032.1  RAS guanyl-releasing protein 1 isoform X4

    4. XM_047432073.1XP_047288029.1  RAS guanyl-releasing protein 1 isoform X1

      UniProtKB/TrEMBL
      B2RA89
      Related
      ENSP00000453583.2, ENST00000558432.5
    5. XM_047432078.1XP_047288034.1  RAS guanyl-releasing protein 1 isoform X5

    6. XM_047432077.1XP_047288033.1  RAS guanyl-releasing protein 1 isoform X5

      Related
      ENSP00000413105.2, ENST00000414708.6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      36293389..36370106 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377172.1XP_054233147.1  RAS guanyl-releasing protein 1 isoform X2

      UniProtKB/TrEMBL
      B2RA89
    2. XM_054377173.1XP_054233148.1  RAS guanyl-releasing protein 1 isoform X3

      UniProtKB/TrEMBL
      B2RA89
    3. XM_054377174.1XP_054233149.1  RAS guanyl-releasing protein 1 isoform X4

    4. XM_054377171.1XP_054233146.1  RAS guanyl-releasing protein 1 isoform X1

      UniProtKB/TrEMBL
      B2RA89
    5. XM_054377176.1XP_054233151.1  RAS guanyl-releasing protein 1 isoform X5

    6. XM_054377175.1XP_054233150.1  RAS guanyl-releasing protein 1 isoform X5