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

Gene ID: 10125, updated on 29-Mar-2020

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
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

Genomic context

See RASGRP1 in Genome Data Viewer
Location:
15q14
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (38488097..38564814, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (38780302..38857661, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984760 Neighboring gene sprouty related EVH1 domain containing 1 Neighboring gene CTD small phosphatase 2 pseudogene Neighboring gene family with sequence similarity 98 member B Neighboring gene uncharacterized LOC105370774 Neighboring gene uncharacterized LOC107984739 Neighboring gene uncharacterized LOC107984725

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: CN262189 OMIM: 618534 GeneReviews: Not available
not available

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC129998, MGC129999

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Ras guanyl-nucleotide exchange factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
diacylglycerol binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
lipid binding TAS
Traceable Author Statement
more info
PubMed 
phosphatidylcholine binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
zinc ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
B cell activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
B cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
MAPK cascade TAS
Traceable Author Statement
more info
 
Ras protein signal transduction TAS
Traceable Author Statement
more info
PubMed 
T cell activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
T cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
activation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
activation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cytokine production IEA
Inferred from Electronic Annotation
more info
 
inflammatory response to antigenic stimulus IEA
Inferred from Electronic Annotation
more info
 
mast cell degranulation IEA
Inferred from Electronic Annotation
more info
 
natural killer cell activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of JNK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of MAP kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of Ras protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of T cell differentiation in thymus IEA
Inferred from Electronic Annotation
more info
 
positive regulation of granulocyte macrophage colony-stimulating factor production IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interferon-gamma secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of natural killer cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of natural killer cell mediated cytotoxicity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of tumor necrosis factor production IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT regulation of p38MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of phosphatidylinositol 3-kinase signaling IEA
Inferred from Electronic Annotation
more info
 
NOT regulation of phospholipase C activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
secretory granule localization IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
vesicle transport along microtubule IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
mast cell granule IEA
Inferred from Electronic Annotation
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
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)

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/Swiss-Prot
    O95267
    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
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    38488097..38564814 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021860.1XP_016877349.1  RAS guanyl-releasing protein 1 isoform X1

    Related
    ENSP00000453583.1, ENST00000558432.5
    Conserved Domains (6) summary
    smart00147
    Location:153389
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    smart00229
    Location:6127
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    pfam00130
    Location:494543
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    pfam13499
    Location:430478
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:426473
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cl21462
    Location:686732
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
  2. XM_005254114.3XP_005254171.1  RAS guanyl-releasing protein 1 isoform X2

    Conserved Domains (6) 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:542572
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    pfam13499
    Location:478526
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:474521
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cl21462
    Location:683729
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
  3. XM_011521151.3XP_011519453.1  RAS guanyl-releasing protein 1 isoform X3

    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:478526
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:474521
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
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