ENSG00000136238


Homo sapiens

Features
Gene ID: ENSG00000136238
  
Biological name :RAC1
  
Synonyms : P63000 / RAC1 / Rac family small GTPase 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: p22.1
Gene start: 6374523
Gene end: 6403977
  
Corresponding Affymetrix probe sets: 1567457_at (Human Genome U133 Plus 2.0 Array)   1567458_s_at (Human Genome U133 Plus 2.0 Array)   208640_at (Human Genome U133 Plus 2.0 Array)   208641_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000258737
Ensembl peptide - ENSP00000348461
NCBI entrez gene - 5879     See in Manteia.
OMIM - 602048
RefSeq - NM_006908
RefSeq - NM_018890
RefSeq Peptide - NP_008839
RefSeq Peptide - NP_061485
swissprot - P63000
swissprot - A4D2P0
swissprot - A4D2P1
Ensembl - ENSG00000136238
  
Related genetic diseases (OMIM): 617751 - Mental retardation, autosomal dominant 48, 617751
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rac1aENSDARG00000074849Danio rerio
 rac1bENSDARG00000087954Danio rerio
 rac1lENSDARG00000054649Danio rerio
 rac1lENSDARG00000096549Danio rerio
 si:ch211-1f22.1ENSDARG00000013203Danio rerio
 si:ch211-1f22.2ENSDARG00000096666Danio rerio
 RAC1ENSGALG00000007130Gallus gallus
 Rac1ENSMUSG00000001847Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
RAC3 / P60763 / Rac family small GTPase 3ENSG0000016975084
RAC2 / P15153 / Rac family small GTPase 2ENSG0000012834084
RHOG / P84095 / ras homolog family member GENSG0000017710565
CDC42 / P60953 / cell division cycle 42ENSG0000007083164
RHOQ / P17081 / ras homolog family member QENSG0000011972958
RHOJ / Q9H4E5 / ras homolog family member JENSG0000012678554
RHOU / Q7L0Q8 / ras homolog family member UENSG0000011657452
RHOV / Q96L33 / ras homolog family member VENSG0000010414048
O94844 / RHOBTB1 / Rho related BTB domain containing 1ENSG0000007242241
Q9BYZ6 / RHOBTB2 / Rho related BTB domain containing 2ENSG0000000885340


Protein motifs (from Interpro)
Interpro ID Name
 IPR001806  Small GTPase superfamily
 IPR003578  Small GTPase superfamily, Rho type
 IPR005225  Small GTP-binding protein domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001934 positive regulation of protein phosphorylation IMP
 biological_processGO:0002551 mast cell chemotaxis IEA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006935 chemotaxis IEA
 biological_processGO:0006954 inflammatory response TAS
 biological_processGO:0007015 actin filament organization IEA
 biological_processGO:0007155 cell adhesion TAS
 biological_processGO:0007160 cell-matrix adhesion NAS
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007264 small GTPase mediated signal transduction IEA
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0008283 cell proliferation IEA
 biological_processGO:0008361 regulation of cell size IMP
 biological_processGO:0009611 response to wounding TAS
 biological_processGO:0009653 anatomical structure morphogenesis TAS
 biological_processGO:0010310 regulation of hydrogen peroxide metabolic process TAS
 biological_processGO:0010591 regulation of lamellipodium assembly IGI
 biological_processGO:0010592 positive regulation of lamellipodium assembly IDA
 biological_processGO:0010811 positive regulation of cell-substrate adhesion IGI
 biological_processGO:0016601 Rac protein signal transduction IEA
 biological_processGO:0030032 lamellipodium assembly IMP
 biological_processGO:0030036 actin cytoskeleton organization IGI
 biological_processGO:0030041 actin filament polymerization TAS
 biological_processGO:0030168 platelet activation TAS
 biological_processGO:0030334 regulation of cell migration IMP
 biological_processGO:0031116 positive regulation of microtubule polymerization IMP
 biological_processGO:0031295 T cell costimulation TAS
 biological_processGO:0031529 ruffle organization IDA
 biological_processGO:0032707 negative regulation of interleukin-23 production IDA
 biological_processGO:0034446 substrate adhesion-dependent cell spreading IMP
 biological_processGO:0035025 positive regulation of Rho protein signal transduction TAS
 biological_processGO:0035556 intracellular signal transduction TAS
 biological_processGO:0038095 Fc-epsilon receptor signaling pathway TAS
 biological_processGO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS
 biological_processGO:0043065 positive regulation of apoptotic process TAS
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0045453 bone resorption IEA
 biological_processGO:0045740 positive regulation of DNA replication IEA
 biological_processGO:0048010 vascular endothelial growth factor receptor signaling pathway TAS
 biological_processGO:0048012 hepatocyte growth factor receptor signaling pathway IMP
 biological_processGO:0048013 ephrin receptor signaling pathway TAS
 biological_processGO:0048261 negative regulation of receptor-mediated endocytosis TAS
 biological_processGO:0048870 cell motility IDA
 biological_processGO:0050690 regulation of defense response to virus by virus TAS
 biological_processGO:0051056 regulation of small GTPase mediated signal transduction TAS
 biological_processGO:0051492 regulation of stress fiber assembly IGI
 biological_processGO:0051496 positive regulation of stress fiber assembly IMP
 biological_processGO:0051668 localization within membrane IMP
 biological_processGO:0051894 positive regulation of focal adhesion assembly IDA
 biological_processGO:0060071 Wnt signaling pathway, planar cell polarity pathway NAS
 biological_processGO:0060263 regulation of respiratory burst IDA
 biological_processGO:0071260 cellular response to mechanical stimulus IEA
 biological_processGO:0071526 semaphorin-plexin signaling pathway ISS
 biological_processGO:0090023 positive regulation of neutrophil chemotaxis IMP
 biological_processGO:0097178 ruffle assembly IMP
 biological_processGO:1900026 positive regulation of substrate adhesion-dependent cell spreading IDA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005802 trans-Golgi network IDA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005884 actin filament IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0016020 membrane ISS
 cellular_componentGO:0030027 lamellipodium IDA
 cellular_componentGO:0030667 secretory granule membrane TAS
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0032587 ruffle membrane IDA
 cellular_componentGO:0036464 cytoplasmic ribonucleoprotein granule IDA
 cellular_componentGO:0042470 melanosome IEA
 cellular_componentGO:0043197 dendritic spine IDA
 cellular_componentGO:0055038 recycling endosome membrane IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0101003 ficolin-1-rich granule membrane TAS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003924 GTPase activity TAS
 molecular_functionGO:0004674 protein serine/threonine kinase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005525 GTP binding IMP
 molecular_functionGO:0017137 Rab GTPase binding IEA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0031996 thioesterase binding IPI
 molecular_functionGO:0042826 histone deacetylase binding IEA
 molecular_functionGO:0051022 Rho GDP-dissociation inhibitor binding ISS
 molecular_functionGO:0051117 ATPase binding IEA


Pathways (from Reactome)
Pathway description
GPVI-mediated activation cascade
Signaling by SCF-KIT
Translocation of SLC2A4 (GLUT4) to the plasma membrane
Nef and signal transduction
NRAGE signals death through JNK
Rho GTPase cycle
Regulation of actin dynamics for phagocytic cup formation
DAP12 signaling
FCERI mediated MAPK activation
DSCAM interactions
CD28 dependent Vav1 pathway
EPHB-mediated forward signaling
Ephrin signaling
EPH-ephrin mediated repulsion of cells
Sema3A PAK dependent Axon repulsion
SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
PCP/CE pathway
G alpha (12/13) signalling events
Sema4D mediated inhibition of cell attachment and migration
DCC mediated attractive signaling
Activation of RAC1
Inactivation of CDC42 and RAC1
VEGFA-VEGFR2 Pathway
Signal transduction by L1
VEGFR2 mediated vascular permeability
RHO GTPases activate PKNs
RHO GTPases activate CIT
RHO GTPases activate KTN1
RHO GTPases activate IQGAPs
RHO GTPases activate PAKs
RHO GTPases Activate WASPs and WAVEs
RHO GTPases Activate Formins
RHO GTPases Activate NADPH Oxidases
MAPK6/MAPK4 signaling
Neutrophil degranulation
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
MET activates RAP1 and RAC1
NTRK2 activates RAC1
Activated NTRK2 signals through CDK5
Factors involved in megakaryocyte development and platelet production


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
Show

 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
Show

 HP:0000733 Stereotyped, repetitive behaviour 
Show

 HP:0001249 Mental retardation 
Show

 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
Show

 HP:0001320 Cerebellar vermis hypoplasia 
Show

 HP:0002079 Hypoplasia of the corpus callosum "Underdevelopment of the corpus callosum." [HPO:curators]
Show

 HP:0002126 Polymicrogyria "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators]
Show

 HP:0002195 Dysgenesis or agenesis of the cerebellar vermis 
Show

 HP:0002198 Enlarged fourth ventricle 
Show

 HP:0002280 Enlarged cisterna magna 
Show

 HP:0006956 Dilation of lateral ventricles 
Show

 HP:0008872 Feeding problems in infancy 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000004975 DVL2 / O14641 / dishevelled segment polarity protein 2  / complex / reaction
 ENSG00000043462 LCP2 / Q13094 / lymphocyte cytosolic protein 2  / reaction / complex
 ENSG00000065320 NTN1 / O95631 / netrin 1  / complex / reaction
 ENSG00000074771 NOX3 / Q9HBY0 / NADPH oxidase 3  / reaction / complex
 ENSG00000100485 SOS2 / Q07890 / SOS Ras/Rho guanine nucleotide exchange factor 2  / reaction
 ENSG00000100030 MAPK1 / P28482 / mitogen-activated protein kinase 1  / reaction
 ENSG00000090776 EFNB1 / P98172 / ephrin B1  / complex / reaction
 ENSG00000010810 FYN / P06241 / FYN proto-oncogene, Src family tyrosine kinase  / reaction / complex
 ENSG00000108262 GIT1 / Q9Y2X7 / GIT ArfGAP 1  / complex / reaction
 ENSG00000089159 PXN / P49023 / paxillin  / reaction
 ENSG00000108947 EFNB3 / Q15768 / ephrin B3  / complex / reaction
 ENSG00000007952 NOX1 / Q9Y5S8 / NADPH oxidase 1  / reaction / complex
 ENSG00000102606 Q14155 / ARHGEF7 / Rho guanine nucleotide exchange factor 7  / complex / reaction
 ENSG00000125266 EFNB2 / P52799 / ephrin B2  / reaction / complex
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / complex / reaction
 ENSG00000071051 NCK2 / O43639 / NCK adaptor protein 2  / complex / reaction
 ENSG00000100365 NCF4 / Q15080 / neutrophil cytosolic factor 4  / reaction / complex
 ENSG00000160145 KALRN / O60229 / kalirin RhoGEF kinase  / reaction
 ENSG00000077264 PAK3 / O75914 / p21 (RAC1) activated kinase 3  / complex / reaction
 ENSG00000075213 Q14563 / SEMA3A / semaphorin 3A  / reaction / complex
 ENSG00000051523 CYBA / P13498 / cytochrome b-245 alpha chain  / reaction / complex
 ENSG00000006607 FARP2 / O94887 / FERM, ARH/RhoGEF and pleckstrin domain protein 2  / reaction
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / reaction / complex
 ENSG00000122966 CIT / O14578 / citron rho-interacting serine/threonine kinase  / reaction / complex
 ENSG00000099250 NRP1 / O14786 / neuropilin 1  / complex / reaction
 ENSG00000102882 MAPK3 / P27361 / mitogen-activated protein kinase 3  / reaction
 ENSG00000134516 DOCK2 / Q92608 / dedicator of cytokinesis 2  / complex / reaction
 ENSG00000062598 ELMO2 / Q96JJ3 / engulfment and cell motility 2  / reaction
 ENSG00000164050 O43157 / PLXNB1 / plexin B1  / complex / reaction
 ENSG00000167193 CRK / P46108 / CRK proto-oncogene, adaptor protein  / reaction
 ENSG00000156299 TIAM1 / Q13009 / T cell lymphoma invasion and metastasis 1  / reaction
 ENSG00000132535 DLG4 / P78352 / discs large MAGUK scaffold protein 4  / reaction / complex
 ENSG00000158092 NCK1 / P16333 / NCK adaptor protein 1  / complex / reaction
 ENSG00000141968 VAV1 / P15498 / vav guanine nucleotide exchange factor 1  / reaction / complex
 ENSG00000149269 PAK1 / Q13153 / p21 (RAC1) activated kinase 1  / reaction / complex
 ENSG00000150760 DOCK1 / Q14185 / dedicator of cytokinesis 1  / reaction / complex
 ENSG00000147799 Q9C0H5 / ARHGAP39 / Rho GTPase activating protein 39  / reaction
 ENSG00000130779 CLIP1 / P30622 / CAP-Gly domain containing linker protein 1  / reaction / complex
 ENSG00000155849 ELMO1 / Q92556 / engulfment and cell motility 1  / reaction / complex
 ENSG00000187323 DCC / P43146 / DCC netrin 1 receptor  / reaction / complex
 ENSG00000172602 RND1 / Q92730 / Rho family GTPase 1  / complex / reaction
 ENSG00000158517 NCF1 / P14598 / neutrophil cytosolic factor 1  / complex / reaction
 ENSG00000184922 FMNL1 / O95466 / formin like 1  / reaction / complex
 ENSG00000038382 TRIO / O75962 / trio Rho guanine nucleotide exchange factor  / complex / reaction
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / reaction / complex
 ENSG00000100351 GRAP2 / O75791 / GRB2-related adaptor protein 2  / complex / reaction
 ENSG00000182511 FES / P07332 / FES proto-oncogene, tyrosine kinase  / reaction / complex
 ENSG00000126777 KTN1 / Q86UP2 / kinectin 1  / complex / reaction
 ENSG00000097007 ABL1 / P00519 / ABL proto-oncogene 1, non-receptor tyrosine kinase  / reaction
 ENSG00000176105 YES1 / P07947 / YES proto-oncogene 1, Src family tyrosine kinase  / reaction
 ENSG00000221866 PLXNA4 / Q9HCM2 / plexin A4  / reaction / complex
 ENSG00000180370 PAK2 / Q13177 / p21 (RAC1) activated kinase 2  / reaction / complex
 ENSG00000076928 Q92888 / ARHGEF1 / Rho guanine nucleotide exchange factor 1  / reaction
 ENSG00000175866 BAIAP2 / Q9UQB8 / BAI1 associated protein 2  / reaction / complex
 ENSG00000169398 PTK2 / Q05397 / protein tyrosine kinase 2  / reaction / complex
 ENSG00000184009 ACTG1 / P63261 / actin gamma 1  / reaction / complex
 ENSG00000134215 VAV3 / Q9UKW4 / vav guanine nucleotide exchange factor 3  / reaction / complex
 ENSG00000105976 MET / P08581 / MET proto-oncogene, receptor tyrosine kinase  / complex / reaction
 ENSG00000187764 Q92854 / SEMA4D / semaphorin 4D  / reaction / complex
 ENSG00000075624 ACTB / P60709 / actin beta  / complex / reaction
 ENSG00000188747 NOXA1 / Q86UR1 / NADPH oxidase activator 1  / complex / reaction
 ENSG00000266028 O75044 / SRGAP2 / SLIT-ROBO Rho GTPase activating protein 2  / reaction / complex
 ENSG00000155980 KIF5A / Q12840 / kinesin family member 5A  / complex / reaction
 ENSG00000145703 IQGAP2 / Q13576 / IQ motif containing GTPase activating protein 2  / complex / reaction
 ENSG00000183856 IQGAP3 / Q86VI3 / IQ motif containing GTPase activating protein 3  / reaction / complex
 ENSG00000099204 ABLIM1 / O14639 / actin binding LIM protein 1  / complex / reaction
 ENSG00000160293 VAV2 / P52735 / vav guanine nucleotide exchange factor 2  / reaction / complex
 ENSG00000174996 KLC2 / Q9H0B6 / kinesin light chain 2  / complex / reaction
 ENSG00000136238 RAC1 / P63000 / Rac family small GTPase 1  / reaction / complex
 ENSG00000140575 IQGAP1 / P46940 / IQ motif containing GTPase activating protein 1  / complex / reaction
 ENSG00000118193 KIF14 / Q15058 / kinesin family member 14  / complex / reaction
 ENSG00000173210 ABLIM3 / O94929 / actin binding LIM protein family member 3  / complex / reaction
 ENSG00000126214 KLC1 / Q07866 / kinesin light chain 1  / complex / reaction
 ENSG00000163995 ABLIM2 / Q6H8Q1 / actin binding LIM protein family member 2  / reaction / complex
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / reaction / complex
 ENSG00000107643 MAPK8 / P45983 / mitogen-activated protein kinase 8  / reaction
 ENSG00000196408 NOXO1 / Q8NFA2 / NADPH oxidase organizer 1  / complex / reaction
 ENSG00000213658 LAT / O43561 / linker for activation of T cells  / complex / reaction
 ENSG00000198668 CALM1 / P0DP23 / calmodulin 1  / reaction / complex
 ENSG00000198901 PRC1 / O43663 / protein regulator of cytokinesis 1  / reaction / complex
 ENSG00000197943 PLCG2 / P16885 / phospholipase C gamma 2  / complex / reaction
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / reaction / complex
 ENSG00000076356 O75051 / PLXNA2 / plexin A2  / complex / reaction
 ENSG00000130827 P51805 / PLXNA3 / plexin A3  / complex / reaction
 ENSG00000116701 NCF2 / P19878 / neutrophil cytosolic factor 2  / reaction / complex
 ENSG00000165168 CYBB / P04839 / cytochrome b-245 beta chain  / complex / reaction
 ENSG00000171587 DSCAM / O60469 / DS cell adhesion molecule  / complex / reaction
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / reaction / complex
 ENSG00000114554 PLXNA1 / Q9UIW2 / plexin A1  / complex / reaction
 ENSG00000254087 LYN / P07948 / LYN proto-oncogene, Src family tyrosine kinase  / reaction
 ENSG00000120063 GNA13 / Q14344 / G protein subunit alpha 13  / reaction






 

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