Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10125
Gene name Gene Name - the full gene name approved by the HGNC.
RAS guanyl releasing protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RASGRP1
Synonyms (NCBI Gene) Gene synonyms aliases
CALDAG-GEFI, CALDAG-GEFII, IMD64, RASGRP
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q14
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1595816926 ->CT Pathogenic Coding sequence variant, frameshift variant, intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000019 hsa-miR-21-5p qRT-PCR, Luciferase reporter assay, Western blot 20483747
MIRT000019 hsa-miR-21-5p qRT-PCR, Luciferase reporter assay, Western 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 factor Regulation Reference
E2F1 Activation 18396012
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603962 9878 ENSG00000172575
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency Immunodeficiency 64 rs779560450, rs1595816926, rs1408683294, rs1595843113, rs1595848141 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Autoimmune Lymphoproliferative Disorder autoimmune lymphoproliferative syndrome N/A N/A GenCC
Crohn Disease Crohn's disease N/A N/A GWAS
Diabetes Mild age-related type 2 diabetes, Type 2 diabetes mellitus or coronary artery disease (pleiotropy), Type 2 diabetes mellitus adjusted for BMI or coronary artery disease (pleiotropy), Type 2 diabetes N/A N/A GWAS
Diabetes Type 1 diabetes N/A N/A GWAS
Associations from Text Mining Disease 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