2. Gene
  3. RASGRP1 - RAS guanyl releasing protein 1 Gene

RASGRP1 - RAS guanyl releasing protein 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

RASGRP1 Protein Structure

RasGEF_N

RasGEF_N: RasGEF N-terminal motif (58 - 153)

RasGEF

RasGEF: RasGEF domain (204 - 383)

EF-hand_6

EF-hand_6: EF-hand domain (476 - 498)

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (542 - 593)

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  • 797 a.a.
Protein Preferred Names Protein Names

RAS guanyl-releasing protein 1

RAS guanyl nucleotide-releasing protein 1

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