ENSMUSG00000025340


Mus musculus

Features
Gene ID: ENSMUSG00000025340
  
Biological name :Rabgef1
  
Synonyms : Q9JM13 / Rab5 GDP/GTP exchange factor / Rabgef1
  
Possible biological names infered from orthology : AC027644.4 / Q9UJ41 / RAB guanine nucleotide exchange factor 1
  
Species: Mus musculus
  
Chr. number: 5
Strand: 1
Band: G1.3
Gene start: 130171798
Gene end: 130214342
  
Corresponding Affymetrix probe sets: 10526133 (MoGene1.0st)   1419067_a_at (Mouse Genome 430 2.0 Array)   1419068_at (Mouse Genome 430 2.0 Array)   1419069_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000118590
Ensembl peptide - ENSMUSP00000119245
Ensembl peptide - ENSMUSP00000026390
Ensembl peptide - ENSMUSP00000112537
Ensembl peptide - ENSMUSP00000114103
NCBI entrez gene - 56715     See in Manteia.
MGI - MGI:1929459
RefSeq - XM_006504447
RefSeq - XM_006504446
RefSeq - XM_006504448
RefSeq - NM_001199059
RefSeq - NM_019983
RefSeq - XM_017321033
RefSeq Peptide - NP_064367
RefSeq Peptide - NP_001185988
swissprot - Q9JM13
swissprot - D3Z2L2
swissprot - D3YWB4
swissprot - F6VIJ0
Ensembl - ENSMUSG00000025340
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rabgef1ENSDARG00000014430Danio rerio
 rabgef1lENSDARG00000015968Danio rerio
 ENSGALG00000021611Gallus gallus
 AC027644.4ENSG00000284461Homo sapiens
 Q9UJ41ENSG00000154710Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Gapvd1 / Q6PAR5 / GTPase-activating protein and VPS9 domain-containing protein 1 / Q14C86* / GTPase activating protein and VPS9 domains 1*ENSMUSG0000002686720


Protein motifs (from Interpro)
Interpro ID Name
 IPR002653  Zinc finger, A20-type
 IPR003123  VPS9 domain
 IPR037191  VPS9 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001933 negative regulation of protein phosphorylation IMP
 biological_processGO:0002686 negative regulation of leukocyte migration IMP
 biological_processGO:0006612 protein targeting to membrane ISO
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0033004 negative regulation of mast cell activation IMP
 biological_processGO:0043305 negative regulation of mast cell degranulation IMP
 biological_processGO:0046580 negative regulation of Ras protein signal transduction IMP
 biological_processGO:0048261 negative regulation of receptor-mediated endocytosis IMP
 biological_processGO:0050728 negative regulation of inflammatory response IMP
 biological_processGO:0060368 regulation of Fc receptor mediated stimulatory signaling pathway IMP
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:1900165 negative regulation of interleukin-6 secretion IMP
 biological_processGO:1900235 negative regulation of Kit signaling pathway IMP
 cellular_componentGO:0005730 nucleolus ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome ISO
 cellular_componentGO:0005829 cytosol ISO
 cellular_componentGO:0031982 vesicle IDA
 cellular_componentGO:0055037 recycling endosome IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0017112 Rab guanyl-nucleotide exchange factor activity ISO
 molecular_functionGO:0017137 Rab GTPase binding ISO
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0061630 ubiquitin protein ligase activity IDA


Pathways (from Reactome)
Pathway description
RAB GEFs exchange GTP for GDP on RABs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000324 increased mast cell number "greater than expected number of the granulated cells found in most tissues and which contain large amounts of histamine and heparin in granules" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cux1tm1Mbu/Cux1tm1Mbu
Genetic Background: involves: OF1

 MP:0000359 abnormal mast cell morphology "anomalous structure of these granulated cells found in most tissues, but most abundantly in skin and g.i. tract" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Cux1tm1Mbu/Cux1tm1Mbu
Genetic Background: involves: OF1

 MP:0001216 abnormal epidermal layer morphology "anomalous structure or development of the superficial epithelial portion of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cux1tm1Mbu/Cux1tm1Mbu
Genetic Background: involves: OF1

 MP:0001222 epidermal hyperplasia "increase in size of the epidermis due to increase in epidermal cell number" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:65146]
Show

Allelic Composition: Cux1tm1Mbu/Cux1tm1Mbu
Genetic Background: involves: OF1

 MP:0001243 abnormal dermal layer morphology "malformed or atypical condition of the dermal layer of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:56777]
Show

Allelic Composition: Cux1tm1Mbu/Cux1tm1Mbu
Genetic Background: involves: OF1

 MP:0001845 abnormal inflammatory response "aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues" [Pathology:ISBN 0-397-51047-0]
Show

Allelic Composition: Cux1tm1Mbu/Cux1tm1Mbu
Genetic Background: involves: OF1

 MP:0002497 increased IgE "greater than normal immunoglobulin class E level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cux1tm1Mbu/Cux1tm1Mbu
Genetic Background: involves: OF1

 MP:0002499 chronic inflammation "persistent inflammatory response, often caused by persistent infection or during an autoimmune response" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
Show

Allelic Composition: Cux1tm1Mbu/Cux1tm1Mbu
Genetic Background: involves: OF1

 MP:0002503 abnormal histamine physiology "functional anomaly of this amine that is involved in local immune response, in regulating physiological function in the gut, and that acts as a neurotransmitter" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cux1tm1Mbu/Cux1tm1Mbu
Genetic Background: involves: OF1

 MP:0002655 abnormal keratinocyte morphology "structural or developmental anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cux1tm1Mbu/Cux1tm1Mbu
Genetic Background: involves: OF1

 MP:0008560 increased tumor necrosis factor secretion "increase in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease", MESH:D12.644.276.374.500.800]
Show

Allelic Composition: Cux1tm1Mbu/Cux1tm1Mbu
Genetic Background: involves: OF1

Allelic Composition: Rabgef1tm2Glli/Rabgef1tm2Glli
Genetic Background: WBB6F1

 MP:0008705 increased interleukin-6 secretion "increase in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts" [MESH:D12.644.276.374.465.506]
Show

Allelic Composition: Cux1tm1Mbu/Cux1tm1Mbu
Genetic Background: involves: OF1

Allelic Composition: Rabgef1tm2Glli/Rabgef1tm2Glli
Genetic Background: WBB6F1

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Cux1tm1Mbu/Cux1tm1Mbu
Genetic Background: involves: OF1

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Rabgef1tm2Glli/Rabgef1tm2Glli
Genetic Background: WBB6F1

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr