Homo sapiens Protein: RASGRP1 | |||||||||||||||||||||
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Summary | |||||||||||||||||||||
InnateDB Protein | IDBP-365364.5 | ||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||
Gene Symbol | RASGRP1 | ||||||||||||||||||||
Protein Name | RAS guanyl releasing protein 1 (calcium and DAG-regulated) | ||||||||||||||||||||
Synonyms | CALDAG-GEFI; CALDAG-GEFII; hRasGRP1; RASGRP; V; | ||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||
Ensembl Protein | ENSP00000388540 | ||||||||||||||||||||
InnateDB Gene | IDBG-5885 (RASGRP1) | ||||||||||||||||||||
Protein Structure | |||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||
Function | Functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. Activates the Erk/MAP kinase cascade. Couples T-lymphocytes and B-lymphocytes antigen receptors to the activation of Ras. Hence, regulates T-cells and B-cells development, homeostasis and differentiation. Functions also in FcERI-evoked degranulation and cytokine secretion by mast cells, regulating allergic responses. May also function in other cell types differentiation. {ECO:0000269PubMed:10807788, ECO:0000269PubMed:12782630, ECO:0000269PubMed:12839994, ECO:0000269PubMed:12845332, ECO:0000269PubMed:15060167, ECO:0000269PubMed:15184873, ECO:0000269PubMed:15899849}. | ||||||||||||||||||||
Subcellular Localization | Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein. Golgi apparatus membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Peripheral membrane protein. Note=Found both in the cytosol and associated with membranes. Relocalization to the cell membrane upon activation is F-actin-dependent. Translocates to the Golgi in response to phorbol ester or nerve growth factor. Localizes to somata and dendrites but not to axons of hippocampal pyramidal cells (By similarity). {ECO:0000250}. | ||||||||||||||||||||
Disease Associations | Systemic lupus erythematosus (SLE) [MIM:152700]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269PubMed:17878389}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Aberrantly spliced isoforms and/or diminished levels of RASGRP1 are found in a cohort of SLE patients raising the possibility that dysregulation of this signaling protein contributes to the development of autoimmunity in a subset of SLE patients. | ||||||||||||||||||||
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). {ECO:0000269PubMed:10807788, ECO:0000269PubMed:17878389, ECO:0000269PubMed:9789079}. | ||||||||||||||||||||
Comments | |||||||||||||||||||||
Interactions | |||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||
PDB ID | |||||||||||||||||||||
InterPro |
IPR000651
Ras-like guanine nucleotide exchange factor, N-terminal IPR001895 Ras guanine-nucleotide exchange factors catalytic domain IPR002048 EF-hand domain IPR002219 Protein kinase C-like, phorbol ester/diacylglycerol-binding domain IPR020454 Diacylglycerol/phorbol-ester binding IPR023578 Ras guanine nucleotide exchange factor domain |
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PFAM |
PF00618
PF00617 PF00036 PF13202 PF13405 PF00130 |
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PRINTS |
PR00008
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PIRSF | |||||||||||||||||||||
SMART |
SM00229
SM00147 SM00054 SM00109 |
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TIGRFAMs | |||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||
Modification | |||||||||||||||||||||
Cross-References | |||||||||||||||||||||
SwissProt | O95267 | ||||||||||||||||||||
PhosphoSite | PhosphoSite-O95267 | ||||||||||||||||||||
TrEMBL | H0YNG8 | ||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||
Entrez Gene | 10125 | ||||||||||||||||||||
UniGene | Hs.591127 | ||||||||||||||||||||
RefSeq | NP_001122074 | ||||||||||||||||||||
HUGO | HGNC:9878 | ||||||||||||||||||||
OMIM | 603962 | ||||||||||||||||||||
CCDS | CCDS45221 | ||||||||||||||||||||
HPRD | 04909 | ||||||||||||||||||||
IMGT | |||||||||||||||||||||
EMBL | AB208848 AC116158 AC124306 AF081195 AF081197 AF106071 AY634315 AY858556 AY954625 AY966005 BC067298 BC109296 BC109297 | ||||||||||||||||||||
GenPept | AAC79699 AAC97349 AAF21898 AAH67298 AAI09297 AAI09298 AAT47482 AAW32406 AAX54699 AAX76907 BAD92085 | ||||||||||||||||||||