Homo sapiens Protein: RASGRP1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-365353.5 | ||||||||||||||||||
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 | ENSP00000413105 | ||||||||||||||||||
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 IPR023578 Ras guanine nucleotide exchange factor domain |
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PFAM |
PF00618
PF00617 PF00036 PF13202 PF13405 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00229
SM00147 SM00054 |
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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 | |||||||||||||||||||
HUGO | HGNC:9878 | ||||||||||||||||||
OMIM | 603962 | ||||||||||||||||||
CCDS | |||||||||||||||||||
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 | ||||||||||||||||||