• Gene id: 10125

Gene Summary

• Gene Symbol: RASGRP1   Gene   UCSC   Ensembl
• Aliases: CALDAG-GEFI, CALDAG-GEFII, IMD64, RASGRP
• Gene name: RAS guanyl releasing protein 1
• Alternate names: RAS guanyl-releasing protein 1, 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 ex,
• Gene location: 15q14 (200410035: 200404950)     Exons: 3     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 603962

Protein Summary

• Protein general information: O95267  
  • Name: RAS guanyl releasing protein 1 (Calcium and DAG regulated guanine nucleotide exchange factor II) (CalDAG GEFII) (Ras guanyl releasing protein)
  • Length: 797  
  • Mass: 90402
  • 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
• Sequence:

  MGTLGKAREAPRKPSHGCRAASKARLEAKPANSPFPSHPSLAHITQFRMMVSLGHLAKGASLDDLIDSCIQSFDA
  DGNLCRSNQLLQVMLTMHRIVISSAELLQKVITLYKDALAKNSPGLCLKICYFVRYWITEFWVMFKMDASLTDTM
  EEFQELVKAKGEELHCRLIDTTQINARDWSRKLTQRIKSNTSKKRKVSLLFDHLEPEELSEHLTYLEFKSFRRIS
  FSDYQNYLVNSCVKENPTMERSIALCNGISQWVQLMVLSRPTPQLRAEVFIKFIQVAQKLHQLQNFNTLMAVIGG
  LCHSSISRLKETSSHVPHEINKVLGEMTELLSSSRNYDNYRRAYGECTDFKIPILGVHLKDLISLYEAMPDYLED
  GKVNVHKLLALYNHISELVQLQEVAPPLEANKDLVHLLTLSLDLYYTEDEIYELSYAREPRNHRAPPLTPSKPPV
  VVDWASGVSPKPDPKTISKHVQRMVDSVFKNYDHDQDGYISQEEFEKIAASFPFSFCVMDKDREGLISRDEITAY
  FMRASSIYSKLGLGFPHNFQETTYLKPTFCDNCAGFLWGVIKQGYRCKDCGMNCHKQCKDLVVFECKKRAKNPVA
  PTENNTSVGPVSNLCSLGAKDLLHAPEEGPFTFPNGEAVEHGEESKDRTIMLMGVSSQKISLRLKRAVAHKATQT
  ESQPWIGSEGPSGPFVLSSPRKTAQDTLYVLPSPTSPCPSPVLVRKRAFVKWENKDSLIKSKEELRHLRLPTYQE
  LEQEINTLKADNDALKIQLKYAQKKIESLQLEKSNHVLAQMEQGDCS

• Structural information:
  • Protein Domains: (53..17-)
    (/note="N-terminal-Ras-GEF)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00135-)
    (205..43-)
    (/note="Ras-GEF-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00168-)
    (470..50-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProR-)
  • Interpro: IPR020454  IPR011992  IPR018247  IPR002048  IPR002219   IPR008937  IPR000651  IPR023578  IPR001895  IPR036964  
  • Prosite: PS00018 PS50222 PS50009 PS50212 PS00479 PS50081
  • CDD: cd00029 cd00155 cd06224
  • PDB: 4L9M 4L9U
  • PDBsum: 4L9M 4L9U
  • STRING: ENSP00000310244
• Other Databases: GeneCards:  RASGRP1  Malacards:  RASGRP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043406	positive regulation of MAP kinase activity	IMP	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0090630	activation of GTPase activity	IMP	biological process
GO:0090630	activation of GTPase activity	IDA	biological process
GO:0001934	positive regulation of protein phosphorylation	IDA	biological process
GO:0042110	T cell activation	IMP	biological process
GO:0042110	T cell activation	IMP	biological process
GO:0030101	natural killer cell activation	IMP	biological process
GO:0042098	T cell proliferation	IMP	biological process
GO:0042113	B cell activation	IMP	biological process
GO:0042100	B cell proliferation	IMP	biological process
GO:0042113	B cell activation	IMP	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005509	calcium ion binding	TAS	molecular function
GO:0008289	lipid binding	TAS	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0016020	membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0007265	Ras protein signal transduction	TAS	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0002437	inflammatory response to antigenic stimulus	IEA	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0033089	positive regulation of T cell differentiation in thymus	IEA	biological process
GO:0043303	mast cell degranulation	IEA	biological process
GO:0047496	vesicle transport along microtubule	IEA	biological process
GO:0090630	activation of GTPase activity	IEA	biological process
GO:0001816	cytokine production	IEA	biological process
GO:0032252	secretory granule localization	IEA	biological process
GO:0032816	positive regulation of natural killer cell activation	IEA	biological process
GO:0032825	positive regulation of natural killer cell differentiation	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0042629	mast cell granule	IEA	cellular component
GO:1900274	regulation of phospholipase C activity	IMP	NOT|biological process
GO:0032725	positive regulation of granulocyte macrophage colony-stimulating factor production	IMP	biological process
GO:0046579	positive regulation of Ras protein signal transduction	IMP	biological process
GO:0032760	positive regulation of tumor necrosis factor production	IMP	biological process
GO:1902715	positive regulation of interferon-gamma secretion	IMP	biological process
GO:0008270	zinc ion binding	IMP	molecular function
GO:0019992	diacylglycerol binding	IMP	molecular function
GO:0046330	positive regulation of JNK cascade	IMP	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0005509	calcium ion binding	IMP	molecular function
GO:0070372	regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0031210	phosphatidylcholine binding	IMP	molecular function
GO:0005088	Ras guanyl-nucleotide exchange factor activity	IMP	molecular function
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0045954	positive regulation of natural killer cell mediated cytotoxicity	IMP	biological process
GO:0001934	positive regulation of protein phosphorylation	IMP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:1900744	regulation of p38MAPK cascade	IMP	NOT|biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04010	MAPK signaling pathway
hsa04014	Ras signaling pathway
hsa04611	Platelet activation
hsa04660	T cell receptor signaling pathway
hsa05235	PD-L1 expression and PD-1 checkpoint pathway in cancer

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq