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

Gene ID: 10125, updated on 22-Sep-2022

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
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Genomic context

See RASGRP1 in Genome Data Viewer
Location:
15q14
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (38488103..38564814, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (36293389..36370106, complement)
105.20220307 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 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 LOC105370775 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

Homology

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
PubMed 
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
PubMed 
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 ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of JNK cascade 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 granulocyte macrophage colony-stimulating factor production IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 positive regulation of tumor necrosis factor production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of type II interferon production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT involved_in regulation of p38MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of phosphatidylinositol 3-kinase signaling IEA
Inferred from Electronic Annotation
more info
 
NOT involved_in regulation of phospholipase C activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
PubMed 
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/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, 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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

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

  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

    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)