ENSG00000077264


Homo sapiens

Features
Gene ID: ENSG00000077264
  
Biological name :PAK3
  
Synonyms : O75914 / p21 (RAC1) activated kinase 3 / PAK3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q23
Gene start: 110944285
Gene end: 111227361
  
Corresponding Affymetrix probe sets: 214607_at (Human Genome U133 Plus 2.0 Array)   229201_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000428921
Ensembl peptide - ENSP00000410853
Ensembl peptide - ENSP00000429113
Ensembl peptide - ENSP00000484798
Ensembl peptide - ENSP00000262836
Ensembl peptide - ENSP00000353864
Ensembl peptide - ENSP00000361077
Ensembl peptide - ENSP00000361080
Ensembl peptide - ENSP00000389172
Ensembl peptide - ENSP00000401982
Ensembl peptide - ENSP00000405642
NCBI entrez gene - 5063     See in Manteia.
OMIM - 300142
RefSeq - XM_017029563
RefSeq - NM_001324331
RefSeq - NM_001324332
RefSeq - NM_001324333
RefSeq - NM_001324334
RefSeq - NM_002578
RefSeq - XM_005262132
RefSeq - XM_005262133
RefSeq - XM_006724654
RefSeq - XM_006724655
RefSeq - XM_011530962
RefSeq - XM_011530967
RefSeq - XM_011530968
RefSeq - XM_011530969
RefSeq - XM_017029557
RefSeq - XM_017029558
RefSeq - XM_017029559
RefSeq - XM_017029560
RefSeq - XM_017029561
RefSeq - XM_017029562
RefSeq - NM_001128166
RefSeq - NM_001128167
RefSeq - NM_001128168
RefSeq - NM_001128172
RefSeq - NM_001128173
RefSeq - NM_001324325
RefSeq - NM_001324326
RefSeq - NM_001324327
RefSeq - NM_001324328
RefSeq - NM_001324329
RefSeq - NM_001324330
RefSeq Peptide - NP_001121639
RefSeq Peptide - NP_001121640
RefSeq Peptide - NP_001121644
RefSeq Peptide - NP_001121645
RefSeq Peptide - NP_001311254
RefSeq Peptide - NP_001311255
RefSeq Peptide - NP_001311256
RefSeq Peptide - NP_001311257
RefSeq Peptide - NP_001311258
RefSeq Peptide - NP_001311259
RefSeq Peptide - NP_001311260
RefSeq Peptide - NP_001311261
RefSeq Peptide - NP_001311262
RefSeq Peptide - NP_001311263
RefSeq Peptide - NP_002569
RefSeq Peptide - NP_001121638
swissprot - A0A087X294
swissprot - B1AKS5
swissprot - O75914
Ensembl - ENSG00000077264
  
Related genetic diseases (OMIM): 300558 - Mental retardation, X-linked 30/47, 300558
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
 PAK3ENSGALG00000008058Gallus gallus
 Pak3ENSMUSG00000031284Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PAK1 / Q13153 / p21 (RAC1) activated kinase 1ENSG0000014926973
PAK2 / Q13177 / p21 (RAC1) activated kinase 2ENSG0000018037070
PAK5 / Q9P286 / p21 (RAC1) activated kinase 5ENSG0000010134935
PAK4 / O96013 / p21 (RAC1) activated kinase 4ENSG0000013066933
BUB1B-PAK6 / BUB1B-PAK6 readthroughENSG0000025928833
PAK6 / Q9NQU5 / p21 (RAC1) activated kinase 6ENSG0000013784333
TAOK1 / Q7L7X3 / TAO kinase 1ENSG0000016055122
TAOK3 / Q9H2K8 / TAO kinase 3ENSG0000013509021
TAOK2 / Q9UL54 / TAO kinase 2ENSG0000014993021


Protein motifs (from Interpro)
Interpro ID Name
 IPR000095  CRIB domain
 IPR000719  Protein kinase domain
 IPR008271  Serine/threonine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR017441  Protein kinase, ATP binding site
 IPR033923  p21 activated kinase binding domain
 IPR035063  p21-activated kinase 3, catalytic domain
 IPR035065  Serine/threonine-protein kinase PAK2/3
 IPR036936  CRIB domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade IEA
 biological_processGO:0000187 activation of MAPK activity IEA
 biological_processGO:0002223 stimulatory C-type lectin receptor signaling pathway TAS
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0007266 Rho protein signal transduction IBA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007346 regulation of mitotic cell cycle IBA
 biological_processGO:0007409 axonogenesis ISS
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0010763 positive regulation of fibroblast migration IEA
 biological_processGO:0010975 regulation of neuron projection development IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0016358 dendrite development ISS
 biological_processGO:0016477 cell migration IBA
 biological_processGO:0030833 regulation of actin filament polymerization IDA
 biological_processGO:0031098 stress-activated protein kinase signaling cascade IBA
 biological_processGO:0031295 T cell costimulation TAS
 biological_processGO:0032956 regulation of actin cytoskeleton organization IEA
 biological_processGO:0042981 regulation of apoptotic process IEA
 biological_processGO:0043525 positive regulation of neuron apoptotic process IEA
 biological_processGO:0048013 ephrin receptor signaling pathway TAS
 biological_processGO:0050770 regulation of axonogenesis IBA
 biological_processGO:0050808 synapse organization TAS
 biological_processGO:0050852 T cell receptor signaling pathway TAS
 biological_processGO:0060996 dendritic spine development IEA
 biological_processGO:0060997 dendritic spine morphogenesis TAS
 biological_processGO:0061003 positive regulation of dendritic spine morphogenesis IEA
 biological_processGO:0071407 cellular response to organic cyclic compound IEA
 biological_processGO:2000573 positive regulation of DNA biosynthetic process IEA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane TAS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity IEA
 molecular_functionGO:0004708 MAP kinase kinase activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0017048 Rho GTPase binding IEA
 molecular_functionGO:0017124 SH3 domain binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0048365 Rac GTPase binding IBA
 molecular_functionGO:0051020 GTPase binding IEA


Pathways (from Reactome)
Pathway description
Generation of second messenger molecules
CD28 dependent Vav1 pathway
Ephrin signaling
Sema3A PAK dependent Axon repulsion
Activation of RAC1
VEGFR2 mediated vascular permeability
CD209 (DC-SIGN) signaling
RHO GTPases activate PAKs
MAPK6/MAPK4 signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000194 Open mouth 
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 HP:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
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 HP:0000219 Thin upper lip 
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 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]
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 HP:0000400 Large ears 
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 HP:0000463 Nares, anteverted "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422]
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 HP:0000709 Psychosis "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators]
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 HP:0000711 Restlessness 
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 HP:0000713 Agitation 
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 HP:0000718 Aggressive behavior "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators]
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 HP:0000736 Short attention span "Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder." [HPO:curators]
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 HP:0000739 Anxiety 
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 HP:0000750 Impaired language development 
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 HP:0000752 Hyperactivity 
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 HP:0001249 Mental retardation 
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 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]
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0002194 Delayed gross motor development 
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 HP:0002307 Drooling 
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 HP:0003196 Nasal hypoplasia "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson]
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 HP:0003828 Variable expressivity 
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 HP:0012368 Flat face "Absence of concavity or convexity of the face when viewed in profile." [pmid:19125436]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000043462 LCP2 / Q13094 / lymphocyte cytosolic protein 2  / reaction / complex
 ENSG00000090776 EFNB1 / P98172 / ephrin B1  / complex / reaction
 ENSG00000010810 FYN / P06241 / FYN proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000108262 GIT1 / Q9Y2X7 / GIT ArfGAP 1  / complex / reaction
 ENSG00000108947 EFNB3 / Q15768 / ephrin B3  / complex / reaction
 ENSG00000102606 Q14155 / ARHGEF7 / Rho guanine nucleotide exchange factor 7  / complex / reaction
 ENSG00000125266 EFNB2 / P52799 / ephrin B2  / complex / reaction
 ENSG00000071051 NCK2 / O43639 / NCK adaptor protein 2  / complex / reaction
 ENSG00000132155 RAF1 / P04049 / Raf-1 proto-oncogene, serine/threonine kinase  / reaction
 ENSG00000141639 MAPK4 / P31152 / mitogen-activated protein kinase 4  / reaction
 ENSG00000130827 P51805 / PLXNA3 / plexin A3  / reaction / complex
 ENSG00000182511 FES / P07332 / FES proto-oncogene, tyrosine kinase  / reaction / complex
 ENSG00000101608 MYL12A / P19105 / myosin light chain 12A  / reaction
 ENSG00000173801 JUP / P14923 / junction plakoglobin  / reaction
 ENSG00000160293 VAV2 / P52735 / vav guanine nucleotide exchange factor 2  / complex / reaction
 ENSG00000070831 CDC42 / P60953 / cell division cycle 42  / reaction / complex
 ENSG00000198561 CTNND1 / O60716 / catenin delta 1  / reaction
 ENSG00000075213 Q14563 / SEMA3A / semaphorin 3A  / reaction / complex
 ENSG00000149269 PAK1 / Q13153 / p21 (RAC1) activated kinase 1  / reaction
 ENSG00000069956 MAPK6 / Q16659 / mitogen-activated protein kinase 6  / reaction
 ENSG00000221866 PLXNA4 / Q9HCM2 / plexin A4  / reaction / complex
 ENSG00000133703 KRAS / P01116 / KRAS proto-oncogene, GTPase  / reaction
 ENSG00000099250 NRP1 / O14786 / neuropilin 1  / reaction / complex
 ENSG00000179776 CDH5 / P33151 / cadherin 5  / reaction
 ENSG00000174775 HRAS / P01112 / HRas proto-oncogene, GTPase  / reaction
 ENSG00000076356 O75051 / PLXNA2 / plexin A2  / reaction / complex
 ENSG00000134215 VAV3 / Q9UKW4 / vav guanine nucleotide exchange factor 3  / reaction / complex
 ENSG00000141968 VAV1 / P15498 / vav guanine nucleotide exchange factor 1  / reaction / complex
 ENSG00000044115 CTNNA1 / P35221 / catenin alpha 1  / reaction
 ENSG00000106683 LIMK1 / P53667 / LIM domain kinase 1  / reaction
 ENSG00000114554 PLXNA1 / Q9UIW2 / plexin A1  / reaction / complex
 ENSG00000077264 PAK3 / O75914 / p21 (RAC1) activated kinase 3  / reaction / complex
 ENSG00000213281 NRAS / P01111 / NRAS proto-oncogene, GTPase  / reaction
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / complex / reaction
 ENSG00000136238 RAC1 / P63000 / Rac family small GTPase 1  / complex / reaction
 ENSG00000085733 CTTN / Q14247 / cortactin  / reaction
 ENSG00000180370 PAK2 / Q13177 / p21 (RAC1) activated kinase 2  / reaction
 ENSG00000158092 NCK1 / P16333 / NCK adaptor protein 1  / complex / reaction






 

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