Gene Gene information from NCBI Gene database.
Entrez ID 10125
Gene name RAS guanyl releasing protein 1
Gene symbol RASGRP1
Synonyms (NCBI Gene)
CALDAG-GEFICALDAG-GEFIIIMD64RASGRP
Chromosome 15
Chromosome location 15q14
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
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1595816926 ->CT Pathogenic Coding sequence variant, frameshift variant, intron variant
miRNA miRNA information provided by mirtarbase database.
221
miRTarBase ID miRNA Experiments Reference
MIRT000019 hsa-miR-21-5p qRT-PCRLuciferase reporter assayWestern blot 20483747
MIRT000019 hsa-miR-21-5p qRT-PCRLuciferase reporter assayWestern blot 20483747
MIRT018006 hsa-miR-335-5p Microarray 18185580
MIRT000019 hsa-miR-21-5p Microarray 18591254
MIRT045953 hsa-miR-125b-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
E2F1 Activation 18396012
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
59
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0001934 Process Positive regulation of protein phosphorylation IDA 21968647
GO:0001934 Process Positive regulation of protein phosphorylation IMP 23908768
GO:0002437 Process Inflammatory response to antigenic stimulus IEA
GO:0002684 Process Positive regulation of immune system process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603962 9878 ENSG00000172575
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95267
Protein name RAS guanyl-releasing protein 1 (Calcium and DAG-regulated guanine nucleotide exchange factor II) (CalDAG-GEFII) (Ras guanyl-releasing protein)
Protein function Functions as a calcium- and diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP (PubMed:15899849, PubMed:23908768, PubMed:27776107, PubMed:29155103). Activates the Erk/M
PDB 4L9M , 4L9U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00618 RasGEF_N 57 153 RasGEF N-terminal motif Domain
PF00617 RasGEF 208 383 RasGEF domain Family
PF13405 EF-hand_6 474 502 EF-hand domain Domain
PF00130 C1_1 542 594 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
Tissue specificity 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). Expressed in NK cells (at protein level) (PubMed:19933860). {ECO:000
Sequence
MGTLGKAREAPRKPSHGCRAASKARLEAKPANSPFPSHPSLAHITQFRMMVSLGHLAKGA
SLDDLIDSCIQSFDADGNLCRSNQLLQVMLTMHRIVISSAELLQKVITLYKDALAKNSPG
LCLKICYFVRYWITEFWVMFKMDASLTDTMEEF
QELVKAKGEELHCRLIDTTQINARDWS
RKLTQRIKSNTSKKRKVSLLFDHLEPEELSEHLTYLEFKSFRRISFSDYQNYLVNSCVKE
NPTMERSIALCNGISQWVQLMVLSRPTPQLRAEVFIKFIQVAQKLHQLQNFNTLMAVIGG
LCHSSISRLKETSSHVPHEINKVLGEMTELLSSSRNYDNYRRAYGECTDFKIPILGVHLK
DLISLYEAMPDYLEDGKVNVHKL
LALYNHISELVQLQEVAPPLEANKDLVHLLTLSLDLY
YTEDEIYELSYAREPRNHRAPPLTPSKPPVVVDWASGVSPKPDPKTISKHVQRMVDSVFK
NYDHDQDGYISQEEFEKIAASF
PFSFCVMDKDREGLISRDEITAYFMRASSIYSKLGLGF
PHNFQETTYLKPTFCDNCAGFLWGVIKQGYRCKDCGMNCHKQCKDLVVFECKKRAKNPVA
PTENNTSVGPVSNLCSLGAKDLLHAPEEGPFTFPNGEAVEHGEESKDRTIMLMGVSSQKI
SLRLKRAVAHKATQTESQPWIGSEGPSGPFVLSSPRKTAQDTLYVLPSPTSPCPSPVLVR
KRAFVKWENKDSLIKSKEELRHLRLPTYQELEQEINTLKADNDALKIQLKYAQKKIESLQ
LEKSNHVLAQMEQGDCS
Sequence length 797
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Ras signaling pathway
Platelet activation
T cell receptor signaling pathway
Pathways in cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
  Activation of RAS in B cells
Integrin signaling
Rap1 signalling
RAF/MAP kinase cascade
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
54
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Immunodeficiency 64 Likely pathogenic; Pathogenic rs772305736, rs2542871866, rs1566907313, rs1408683294, rs1595843113, rs1595848141, rs779560450, rs1595816926 RCV001784903
RCV003142239
RCV005631256
RCV000824710
RCV000824711
RCV000824712
RCV000824713
RCV000824714
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs56241040 RCV005914064
Cervical cancer Benign; Likely benign rs56241040 RCV005914065
Lung cancer Benign; Likely benign rs56241040, rs375298889 RCV005914067
RCV005920937
Malignant lymphoma, large B-cell, diffuse Uncertain significance rs750445245 RCV005925447
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 37026010
Arthritis Rheumatoid Associate 26714738
Autoimmune Diseases Associate 23908768, 35204828
Autoimmune Lymphoproliferative Syndrome Associate 29155103
Bipolar Disorder Associate 40562893
Breast Neoplasms Associate 31638237
Carcinoma Basal Cell Associate 34104083
Chromosome 12 12p trisomy Stimulate 24829201
COVID 19 Associate 37026010
Cystitis Interstitial Associate 36619718