RASGRP1 - RAS guanyl releasing protein 1 Gene

Homo sapiens

Also known as IMD64; RASGRP; CALDAG-GEFI; CALDAG-GEFII

Gene ID: 10125 | Gene type: protein coding

About RASGRP1

Cytogenetic location: 15q14 Genomic coordinates (GRCh38): 15:38,488,103-38,564,814 (from NCBI)

This gene has 25 transcripts (splice variants), 196 orthologues, 24 paralogues and is associated with 2 phenotypes. Broad expression in lymph node (RPKM 12.0), brain (RPKM 10.5) and 15 other tissues.

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 the exchange of bound GDP for GTP. It activates the ERK/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]

RASGRP1 Products(3)

mRNA	Protein	Name
NM_001128602.2	NP_001122074.1	RAS guanyl-releasing protein 1 isoform b
NM_001306086.2	NP_001293015.1	RAS guanyl-releasing protein 1 isoform c
NM_005739.4	NP_005730.2	RAS guanyl-releasing protein 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables calcium ion binding	IMP IMP: Inferred from mutant phenotype	23908768	GOA
enables diacylglycerol binding	IMP IMP: Inferred from mutant phenotype	23908768	GOA
enables guanyl-nucleotide exchange factor activity	IMP IMP: Inferred from mutant phenotype	23908768	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	23908768	GOA
enables phosphatidylcholine binding	IMP IMP: Inferred from mutant phenotype	23908768	GOA
enables zinc ion binding	IMP IMP: Inferred from mutant phenotype	23908768	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in B cell activation	IMP IMP: Inferred from mutant phenotype	27776107	GOA
involved in B cell proliferation	IMP IMP: Inferred from mutant phenotype	27776107	GOA
involved in T cell activation	IMP IMP: Inferred from mutant phenotype	27776107	GOA
involved in T cell proliferation	IMP IMP: Inferred from mutant phenotype	29155103	GOA
involved in activation of GTPase activity	IDA IDA: Inferred from direct assay	10807788	GOA
involved in activation of GTPase activity	IMP IMP: Inferred from mutant phenotype	12845332	GOA
involved in natural killer cell activation	IMP IMP: Inferred from mutant phenotype	27776107	GOA
involved in positive regulation of MAP kinase activity	IMP IMP: Inferred from mutant phenotype	15899849	GOA
involved in positive regulation of Ras protein signal transduction	IMP IMP: Inferred from mutant phenotype	19933860	GOA
involved in positive regulation of natural killer cell mediated cytotoxicity	IMP IMP: Inferred from mutant phenotype	19933860	GOA
involved in positive regulation of protein phosphorylation	IDA IDA: Inferred from direct assay	21968647	GOA
involved in positive regulation of protein phosphorylation	IMP IMP: Inferred from mutant phenotype	23908768	GOA
involved in regulation of ERK1 and ERK2 cascade	IMP IMP: Inferred from mutant phenotype	23908768	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	21968647	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RASGRP1 Protein Structure

RasGEF_N

RasGEF

EF-hand_6

C1_1

0
200
400
600
797 a.a.

Protein Preferred Names

Protein Names

RAS guanyl-releasing protein 1

RAS guanyl nucleotide-releasing protein 1

RASGRP1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82801	RASGRP1 Antibody (YA2546)	WB	Human

Related Diseases

Diseases

Alias

Immunodeficiency 64

IMD64

Autoimmune Lymphoproliferative Syndrome

ALPS	Canale-Smith Syndrome
Autoimmune Lymphoproliferative Syndrome, Type Ia	Autoimmune Lymphoproliferative Syndrome, Type Ib
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant	Css
Autoimmune Lymphoproliferative Syndrome, Type 1b	Autoimmune Lymphoproliferative Syndrome, Type 1a
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant	Fas Deficiency
Autoimmune Lymphoproliferative Syndrome 1a	ALPS1A
Autoimmune Lymphoproliferative Syndrome Type Ia	Autoimmune Lymphoproliferative Syndrome 1b
ALPS1B	Autoimmune Lymphoproliferative Syndrome Type Ib

Lupus Erythematosus

Lupus	Lupus Vulgaris
Lupus Erythematosus, Discoid	Lupus Erythematosus, Systemic
Subacute Cutaneous Lupus	Le - [Lupus Erythematosus]

Bleeding Disorder, Platelet-Type, 18

Platelet-Type Bleeding Disorder 18	BDPLT18
Bleeding Disorder Due To Calcium- And Dag-Regulated Guanine Exchange Factor-1 Deficiency	Bleeding Disorder Due To Caldag-Gefi Deficiency
Bleeding Disorder, Platelet Type 18

Systemic Lupus Erythematosus

Lupus Nephritis	SLE
Disseminated Lupus Erythematosus	Systemic Lupus Erythematosus, Susceptibility To
Lupus Erythematosus, Systemic	Lupus Nephritis, Susceptibility To
Libman-Sacks Disease	Systemic Lupus Erythematosus Susceptibility To
Sle - Lupus Erythematosus, Systemic	Le Syndrome
Lupus	Lupus Erythematosus Systemic
Lupus Erythematosus, Systemic, Susceptibility To	Lupus Vulgaris
Lupus Erythematosus, Discoid	Lupus Erythematosus
Systemic Lupus Erythematosus Nos	Sle - [Systemic Lupus Erythematosus]

Lymphoproliferative Syndrome

Lymphoproliferative Disorder	Lymphoproliferative Disorders
Lymphoproliferative Disorders, Susceptibility To

Leukocyte Adhesion Deficiency, Type Iii

Leukocyte Adhesion Deficiency 3	LAD3
Leukocyte Adhesion Deficiency 1 Variant	Lad1v
Integrin Activation Deficiency Disease	Iadd
Leukocyte Adhesion Deficiency Type Iii	Lad1 Variant
Lad-1 Variant	Lad-Iii
Leukocyte Adhesion Deficiency-1 Variant	Leukocyte Adhesion Deficiency Type 1

Immunodeficiency 20

Autosomal Recessive Primary Immunodeficiency With Defective Spontaneous Natural Killer Cell Cytotoxicity	IMD20
Autosomal Recessive Primary Immunodeficiency With Defective Spontaneous Nk Cell Cytotoxicity	Cd16 Deficiency
Immunodeficiency, Type 20

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency	Congenital Combined Immunodeficiency
Syndrome With Combined Immunodeficiency	Combined T And B Cell Immunodeficiency
Combined Immunity Deficiency	Combined Immunodeficiency Syndrome
Combined T-Cell And B-Cell Immunodeficiency	Lymphopenic Agammaglobulinaemia

Epidermodysplasia Verruciformis 1

Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis, Susceptibility To, 1
Lutz-Lewandowsky Epidermodysplasia Verruciformis	EV1
Lewandowsky-Lutz Syndrome	Ev

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11693	RASGRP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RASGRP1	MGD	MGI:1314635
Bos taurus	RASGRP1	VGNC	VGNC:33747
Canis familiaris	RASGRP1	VGNC	VGNC:58327
Felis catus	RASGRP1	VGNC	VGNC:69251
Macaca mulatta	RASGRP1	VGNC	VGNC:76671
Rattus norvegicus	RASGRP1	RGD	RGD:3539

Name
Email *

	Sorry, but the email address you supplied was invalid.