This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Alternatively spliced ... See more...

Aliases for PAK1 Gene

Aliases for PAK1 Gene

  • P21 (RAC1) Activated Kinase 1 2 3 5
  • P21/Cdc42/Rac1-Activated Kinase 1 (STE20 Homolog, Yeast) 2 3
  • P21/Cdc42/Rac1-Activated Kinase 1 (Yeast Ste20-Related) 2 3
  • P21 Protein (Cdc42/Rac)-Activated Kinase 1 2 3
  • Serine/Threonine-Protein Kinase PAK 1 3 4
  • STE20 Homolog, Yeast 2 3
  • EC 2.7.11.1 4 54
  • Alpha-PAK 3 4
  • P65-PAK 3 4
  • P21-Activated Kinase 1 4
  • EC 2.7.11 54
  • PAKalpha 3
  • IDDMSSD 3
  • PAK-1 4

External Ids for PAK1 Gene

Previous GeneCards Identifiers for PAK1 Gene

  • GC11M079360
  • GC11M078573
  • GC11M077255
  • GC11M076760
  • GC11M076710
  • GC11M077033
  • GC11M073331

Summaries for PAK1 Gene

Entrez Gene Summary for PAK1 Gene

  • This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]

GeneCards Summary for PAK1 Gene

PAK1 (P21 (RAC1) Activated Kinase 1) is a Protein Coding gene. Diseases associated with PAK1 include Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay and Thymic Neuroendocrine Tumor. Among its related pathways are TCR signaling (REACTOME) and Development FGFR signaling pathway. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is PAK3.

UniProtKB/Swiss-Prot Summary for PAK1 Gene

  • Protein kinase involved in intracellular signaling pathways downstream of integrins and receptor-type kinases that plays an important role in cytoskeleton dynamics, in cell adhesion, migration, proliferation, apoptosis, mitosis, and in vesicle-mediated transport processes (PubMed:30290153). Can directly phosphorylate BAD and protects cells against apoptosis. Activated by interaction with CDC42 and RAC1. Functions as GTPase effector that links the Rho-related GTPases CDC42 and RAC1 to the JNK MAP kinase pathway. Phosphorylates and activates MAP2K1, and thereby mediates activation of downstream MAP kinases. Involved in the reorganization of the actin cytoskeleton, actin stress fibers and of focal adhesion complexes. Phosphorylates the tubulin chaperone TBCB and thereby plays a role in the regulation of microtubule biogenesis and organization of the tubulin cytoskeleton. Plays a role in the regulation of insulin secretion in response to elevated glucose levels. Part of a ternary complex that contains PAK1, DVL1 and MUSK that is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ). Activity is inhibited in cells undergoing apoptosis, potentially due to binding of CDC2L1 and CDC2L2. Phosphorylates MYL9/MLC2. Phosphorylates RAF1 at 'Ser-338' and 'Ser-339' resulting in: activation of RAF1, stimulation of RAF1 translocation to mitochondria, phosphorylation of BAD by RAF1, and RAF1 binding to BCL2. Phosphorylates SNAI1 at 'Ser-246' promoting its transcriptional repressor activity by increasing its accumulation in the nucleus. In podocytes, promotes NR3C2 nuclear localization. Required for atypical chemokine receptor ACKR2-induced phosphorylation of LIMK1 and cofilin (CFL1) and for the up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. In synapses, seems to mediate the regulation of F-actin cluster formation performed by SHANK3, maybe through CFL1 phosphorylation and inactivation. Plays a role in RUFY3-mediated facilitating gastric cancer cells migration and invasion (PubMed:25766321). In response to DNA damage, phosphorylates MORC2 which activates its ATPase activity and facilitates chromatin remodeling (PubMed:23260667).

Tocris Summary for PAK1 Gene

  • P21-activated kinases (PAKs), EC 2.7.11.1, are serine/threonine kinases that are effector proteins for the Rho GTPases Cdc42 and Rac. Six PAK isoforms have been identified to date, which can be split into group A (PAK1, PAK2, PAK3) and group B (PAK4, PAK5, PAK6).

Gene Wiki entry for PAK1 Gene

Additional gene information for PAK1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PAK1 Gene

Genomics for PAK1 Gene

GeneHancer (GH) Regulatory Elements for PAK1 Gene

Promoters and enhancers for PAK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J077469 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 766.3 +1.9 1871 7.4 SIN3A ZBTB40 CTCF SREBF1 RBPJ CTBP1 ATF1 CREB1 RELA HLF PAK1 ENSG00000268635 RSF1 GDPD4 ENSG00000241782 AQP11 MYO7A lnc-PAK1-1 lnc-GDPD4-7
GH11J077410 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 778.3 +63.2 63175 3.3 ZBTB6 POLR2A MYC L3MBTL2 MAX NKRF MLLT1 SP7 CREM BACH1 PAK1 lnc-GDPD4-7 GDPD4 AQP11 lnc-GDPD4-6
GH11J077407 Promoter/Enhancer 1 Ensembl ENCODE 28.3 +66.8 66821 1.1 CREB1 SP1 SP7 FOSL2 POLR2A RXRA PRDM10 ZNF629 JUND ZXDB PAK1 GDPD4 lnc-GDPD4-7 lnc-GDPD4-6
GH11J077444 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 28.6 +28.9 28936 1.6 IKZF1 IKZF2 ATF7 DPF2 RUNX3 NBN SMARCA5 ZNF664 ATF2 ZNF217 PAK1 GDPD4 AQP11 ENSG00000268635 lnc-GDPD4-7
GH11J077243 Enhancer 1 Ensembl ENCODE 23 +230.3 230331 2.6 FOXA1 RBPJ CREB1 MIXL1 HLF RAD21 ZNF652 ELF3 SP1 CEBPG PAK1 GDPD4 lnc-PAK1-5 lnc-PAK1-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PAK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PAK1 gene promoter:
  • C/EBPbeta
  • Chx10
  • Egr-4
  • FOXO1
  • FOXO1a
  • p53
  • Pax-2a
  • POU2F1
  • POU2F1a
  • S8

Genomic Locations for PAK1 Gene

Genomic Locations for PAK1 Gene
chr11:77,321,551-77,474,635
(GRCh38/hg38)
Size:
153,085 bases
Orientation:
Minus strand
chr11:77,032,752-77,185,680
(GRCh37/hg19)
Size:
152,929 bases
Orientation:
Minus strand

Genomic View for PAK1 Gene

Genes around PAK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAK1 Gene

Proteins for PAK1 Gene

  • Protein details for PAK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13153-PAK1_HUMAN
    Recommended name:
    Serine/threonine-protein kinase PAK 1
    Protein Accession:
    Q13153
    Secondary Accessions:
    • O75561
    • Q13567
    • Q32M53
    • Q32M54
    • Q86W79

    Protein attributes for PAK1 Gene

    Size:
    545 amino acids
    Molecular mass:
    60647 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer; homodimerization results in autoinhibition (PubMed:30290153). Active as monomer. Component of cytoplasmic complexes, which also contains PXN, ARHGEF6 and GIT1. Interacts with NISCH (By similarity). Interacts with DVL1; mediates the formation of a DVL1, MUSK and PAK1 ternary complex involved in AChR clustering (By similarity). Binds to the caspase-cleaved p110 isoform of CDC2L1 and CDC2L2, p110C, but not the full-length proteins (PubMed:12624090). Interacts with ARHGEF7 (PubMed:16101281). Interacts tightly with GTP-bound but not GDP-bound CDC42/P21 and RAC1 (By similarity). Probably found in a ternary complex composed of DSCAM, PAK1 and RAC1. Interacts with DSCAM (via cytoplasmic domain); the interaction is direct and enhanced in presence of RAC1 (PubMed:15169762). Interacts with SCRIB (PubMed:18716323). Interacts with PDPK1 (PubMed:10995762). Interacts (via kinase domain) with RAF1 (PubMed:11733498). Interacts with NCK1 and NCK2 (PubMed:10026169). Interacts with TBCB (PubMed:15831477). Interacts with CRIPAK (PubMed:16278681). Interacts with BRSK2 (By similarity). Interacts with SNAI1 (PubMed:15833848). Interacts with CIB1 isoform 2 (PubMed:23503467). Interacts with CIB1 (via N-terminal region); the interaction is direct, promotes PAK1 activity and occurs in a calcium-dependent manner. Interacts with INPP5K (PubMed:26940976).

    Three dimensional structures from OCA and Proteopedia for PAK1 Gene

    Alternative splice isoforms for PAK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAK1 Gene

Selected DME Specific Peptides for PAK1 Gene

Q13153:
  • VLDVLEF
  • QIAAVCRECLQAL
  • TGEFTGMP
  • PEQWARLLQTSNITK
  • FRDFLNRCLEMDV
  • QDKPPAPPMRNTSTMIGAGSKD
  • GPKVDIW
  • NPQAVLD
  • DFGFCAQ
  • NIVNYLDSYLV
  • GDKTNKK
  • GTPYWMAPEVV
  • TPPPVIAPRPEHTKSVYTRSVIEPLP
  • MDGSVKL
  • LQALEFLH
  • DEEILEKLRSIVSVGDPKKKYT
  • WSLGIMAIEM
  • EGQIAAV
  • SYLVGDELWVVME
  • IHRDIKSDN
  • EGEPPYL
  • VAIKQMNL
  • KLTDFGFCA
  • MAPEVVTR
  • NEILVMR
  • KIGQGASG
  • GQEVAIK
  • QPKKELI
  • AKPLSSLTPL
  • FEHTIHVG
  • GTPYWMAPE
  • KVDIWSLGIMA
  • GGSLTDV
  • ALYLIATNGTP

Post-translational modifications for PAK1 Gene

  • Autophosphorylated in trans, meaning that in a dimer, one kinase molecule phosphorylates the other one. Activated by autophosphorylation at Thr-423 in response to a conformation change, triggered by interaction with GTP-bound CDC42 or RAC1. Activated by phosphorylation at Thr-423 by BRSK2 and by PDPK1. Phosphorylated by JAK2 in response to PRL; this increases PAK1 kinase activity. Phosphorylated at Ser-21 by PKB/AKT; this reduces interaction with NCK1 and association with focal adhesion sites. Upon DNA damage, phosphorylated at Thr-212 and translocates to the nucleoplasm (PubMed:23260667). Phosphorylated at tyrosine residues, which can be enhanced by NTN1 (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for PAK1 Gene

Gene Families for PAK1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PAK1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ30666 fis, clone FCBBF1000627, highly similar to Serine/threonine-protein kinase PAK 1 (EC 2.7.11.1) (B3KNX7_HUMAN)
  • p65-PAK (PAK1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13153

UniProtKB/Swiss-Prot:

PAK1_HUMAN :
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.
Family:
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.
genes like me logo Genes that share domains with PAK1: view

Function for PAK1 Gene

Molecular function for PAK1 Gene

UniProtKB/Swiss-Prot Function:
Protein kinase involved in intracellular signaling pathways downstream of integrins and receptor-type kinases that plays an important role in cytoskeleton dynamics, in cell adhesion, migration, proliferation, apoptosis, mitosis, and in vesicle-mediated transport processes (PubMed:30290153). Can directly phosphorylate BAD and protects cells against apoptosis. Activated by interaction with CDC42 and RAC1. Functions as GTPase effector that links the Rho-related GTPases CDC42 and RAC1 to the JNK MAP kinase pathway. Phosphorylates and activates MAP2K1, and thereby mediates activation of downstream MAP kinases. Involved in the reorganization of the actin cytoskeleton, actin stress fibers and of focal adhesion complexes. Phosphorylates the tubulin chaperone TBCB and thereby plays a role in the regulation of microtubule biogenesis and organization of the tubulin cytoskeleton. Plays a role in the regulation of insulin secretion in response to elevated glucose levels. Part of a ternary complex that contains PAK1, DVL1 and MUSK that is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ). Activity is inhibited in cells undergoing apoptosis, potentially due to binding of CDC2L1 and CDC2L2. Phosphorylates MYL9/MLC2. Phosphorylates RAF1 at 'Ser-338' and 'Ser-339' resulting in: activation of RAF1, stimulation of RAF1 translocation to mitochondria, phosphorylation of BAD by RAF1, and RAF1 binding to BCL2. Phosphorylates SNAI1 at 'Ser-246' promoting its transcriptional repressor activity by increasing its accumulation in the nucleus. In podocytes, promotes NR3C2 nuclear localization. Required for atypical chemokine receptor ACKR2-induced phosphorylation of LIMK1 and cofilin (CFL1) and for the up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. In synapses, seems to mediate the regulation of F-actin cluster formation performed by SHANK3, maybe through CFL1 phosphorylation and inactivation. Plays a role in RUFY3-mediated facilitating gastric cancer cells migration and invasion (PubMed:25766321). In response to DNA damage, phosphorylates MORC2 which activates its ATPase activity and facilitates chromatin remodeling (PubMed:23260667).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269 PubMed:10551809, ECO:0000269 PubMed:22153498, ECO:0000269 PubMed:9032240};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269 PubMed:10551809, ECO:0000269 PubMed:22153498, ECO:0000269 PubMed:9032240};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Phosphorylation of Thr-84 by OXSR1 inhibits activation (By similarity). Activated by binding small G proteins. Binding of GTP-bound CDC42 or RAC1 to the autoregulatory region releases monomers from the autoinhibited dimer, and enables activation by phosphorylation of Thr-423.
GENATLAS Biochemistry:
p21/Cdc42/Rac1-activated kinase 1,S cerevisiae Ste20 related,expressed in brain,downstream effector linking Rho,GTPases to actin cytoskeleton,potentially involved in the regulation of a subset of cytoskeletal dynamics initiated by chemoattractant and phagocytic stimuli in human neutrophils

Enzyme Numbers (IUBMB) for PAK1 Gene

Phenotypes From GWAS Catalog for PAK1 Gene

Gene Ontology (GO) - Molecular Function for PAK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004672 protein kinase activity IDA,IEA 8805275
GO:0004674 protein serine/threonine kinase activity IEA,TAS --
GO:0005515 protein binding IPI 10026169
GO:0005518 collagen binding IPI 12189148
genes like me logo Genes that share ontologies with PAK1: view
genes like me logo Genes that share phenotypes with PAK1: view

Human Phenotype Ontology for PAK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PAK1 Gene

MGI Knock Outs for PAK1:
  • Pak1 Pak1<tm1b(EUCOMM)Hmgu>
  • Pak1 Pak1<tm1Zpj>
  • Pak1 Pak1<tm1Cher>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for PAK1

No data available for Transcription Factor Targets and HOMER Transcription for PAK1 Gene

Localization for PAK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAK1 Gene

Cytoplasm. Cell junction, focal adhesion. Cell membrane. Cell projection, ruffle membrane. Cell projection, invadopodium. Nucleus, nucleoplasm. Chromosome. Note=Colocalizes with RUFY3, F-actin and other core migration components in invadopodia at the cell periphery (PubMed:25766321). Recruited to the cell membrane by interaction with CDC42 and RAC1. Recruited to focal adhesions upon activation. Colocalized with CIB1 within membrane ruffles during cell spreading upon readhesion to fibronectin. Upon DNA damage, translocates to the nucleoplasm when phosphorylated at Thr-212 where is co-recruited with MORC2 on damaged chromatin (PubMed:23260667). {ECO:0000250 UniProtKB:P35465, ECO:0000269 PubMed:23260667, ECO:0000269 PubMed:25766321}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PAK1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PAK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA,IDA 12912914
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IEA,IDA 23260667
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IDA,IBA 16278681
genes like me logo Genes that share ontologies with PAK1: view

Pathways & Interactions for PAK1 Gene

genes like me logo Genes that share pathways with PAK1: view

Pathways by source for PAK1 Gene

Gene Ontology (GO) - Biological Process for PAK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 NOT MAPK cascade IDA 8805275
GO:0001666 response to hypoxia IEA --
GO:0001934 positive regulation of protein phosphorylation IMP 23633677
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0006338 chromatin remodeling IDA 23260667
genes like me logo Genes that share ontologies with PAK1: view

Drugs & Compounds for PAK1 Gene

(25) Drugs for PAK1 Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Magnesium Approved, Experimental, Investigational Pharma 0
Guanosine triphosphate Experimental Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0
FRAX597 Pharma PAK inhibitor,potent and ATP-competitive 0

(16) Additional Compounds for PAK1 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
MRT 68601 hydrochloride
MRT 68921 dihydrochloride
TNP
519178-28-0
XL 413 hydrochloride
1169562-71-3

(5) Tocris Compounds for PAK1 Gene

Compound Action Cas Number
MRT 68601 hydrochloride Potent TBK1 inhibitor
MRT 68921 dihydrochloride Potent ULK inhibitor; inhibits autophagy
Necrostatin-1 RIPK1 inhibitor; inhibits necroptosis 4311-88-0
TNP Inhibitor of IP6K; also inhibits IP3K 519178-28-0
XL 413 hydrochloride Potent and selective Cdc7 inhibitor 1169562-71-3

(2) ApexBio Compounds for PAK1 Gene

Compound Action Cas Number
FRAX597 PAK inhibitor,potent and ATP-competitive 1286739-19-2
IPA-3 Non-ATP competitive Pak1 inhibitor 42521-82-4
genes like me logo Genes that share compounds with PAK1: view

Transcripts for PAK1 Gene

mRNA/cDNA for PAK1 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for PAK1

Alternative Splicing Database (ASD) splice patterns (SP) for PAK1 Gene

No ASD Table

Relevant External Links for PAK1 Gene

GeneLoc Exon Structure for
PAK1
ECgene alternative splicing isoforms for
PAK1

Expression for PAK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PAK1 Gene

mRNA differential expression in normal tissues according to GTEx for PAK1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.9), Brain - Cortex (x4.5), and Whole Blood (x4.1).

Protein differential expression in normal tissues from HIPED for PAK1 Gene

This gene is overexpressed in Liver (17.1) and Frontal cortex (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PAK1 Gene



Protein tissue co-expression partners for PAK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PAK1 Gene:

PAK1

SOURCE GeneReport for Unigene cluster for PAK1 Gene:

Hs.435714

mRNA Expression by UniProt/SwissProt for PAK1 Gene:

Q13153-PAK1_HUMAN
Tissue specificity: Overexpressed in gastric cancer cells and tissues (at protein level) (PubMed:25766321).

Evidence on tissue expression from TISSUES for PAK1 Gene

  • Nervous system(4.8)
  • Liver(4.2)
  • Muscle(2.4)
  • Heart(2.1)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with PAK1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for PAK1 Gene

Orthologs for PAK1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PAK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PAK1 33 32
  • 94.1 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PAK1 33 32
  • 93.69 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PAK1 33 32
  • 93.32 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PAK1 33
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pak1 32
  • 92.46 (n)
mouse
(Mus musculus)
Mammalia Pak1 17 33 32
  • 92.34 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PAK1 33
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAK1 33 32
  • 82.81 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PAK1 33
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7395 32
zebrafish
(Danio rerio)
Actinopterygii pak1 33 33 32
  • 76.22 (n)
OneToMany
-- 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9895 32
fruit fly
(Drosophila melanogaster)
Insecta Pak 33 34 32
  • 65.35 (n)
OneToMany
Pak3 34
  • 59 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002986 32
  • 63.27 (n)
worm
(Caenorhabditis elegans)
Secernentea pak-1 33 32
  • 58.65 (n)
OneToMany
Y38F1A.10 34
  • 58 (a)
C45B11.1b 34
  • 38 (a)
C45B11.1a 34
  • 38 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE20 35 32
  • 55.53 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3720 33
  • 59 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes shk1 32
  • 52.41 (n)
Species where no ortholog for PAK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PAK1 Gene

ENSEMBL:
Gene Tree for PAK1 (if available)
TreeFam:
Gene Tree for PAK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PAK1: view image

Paralogs for PAK1 Gene

(71) SIMAP similar genes for PAK1 Gene using alignment to 11 proteins:

  • PAK1_HUMAN
  • B3KNX7_HUMAN
  • E9PJF8_HUMAN
  • E9PKH9_HUMAN
  • E9PM17_HUMAN
  • E9PMP2_HUMAN
  • E9PQW5_HUMAN
  • E9PRP6_HUMAN
  • H0YCG5_HUMAN
  • H0YCM0_HUMAN
  • H0YF55_HUMAN
genes like me logo Genes that share paralogs with PAK1: view

Variants for PAK1 Gene

Sequence variations from dbSNP and Humsavar for PAK1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1565583382 pathogenic, INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY 77,336,213(-) T/C coding_sequence_variant, missense_variant
rs1565638316 pathogenic, INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY 77,379,288(-) T/C coding_sequence_variant, missense_variant
VAR_081554 Intellectual developmental disorder with macrocephaly, seizures, and speech delay (IDDMSSD) [MIM:618158] p.Tyr131Cys
VAR_081555 Intellectual developmental disorder with macrocephaly, seizures, and speech delay (IDDMSSD) [MIM:618158] p.Tyr429Cys
rs1000004432 -- 77,353,796(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PAK1 Gene

Variant ID Type Subtype PubMed ID
esv2744811 CNV deletion 23290073
esv3548027 CNV deletion 23714750
esv3579753 CNV loss 25503493
esv3579754 CNV loss 25503493
nsv951046 CNV deletion 24416366

Variation tolerance for PAK1 Gene

Residual Variation Intolerance Score: 13.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PAK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAK1 Gene

Disorders for PAK1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PAK1 Gene - From: OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
intellectual developmental disorder with macrocephaly, seizures, and speech delay
  • iddmssd
thymic neuroendocrine tumor
helicobacter pylori infection
  • helicobacter pylori infection, susceptibility to
breast cancer
  • breast cancer, familial
gastric cancer
  • gastric cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
Search PAK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PAK1_HUMAN
  • Intellectual developmental disorder with macrocephaly, seizures, and speech delay (IDDMSSD) [MIM:618158]: An autosomal dominant neurodevelopmental disorder characterized by impaired intellectual development, poor speech, postnatal macrocephaly, and seizures. {ECO:0000269 PubMed:30290153}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PAK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PAK1: view

No data available for Genatlas for PAK1 Gene

Publications for PAK1 Gene

  1. CRIPak, a novel endogenous Pak1 inhibitor. (PMID: 16278681) Talukder AH … Kumar R (Oncogene 2006) 3 4 23 56
  2. Integrin engagement differentially modulates epithelial cell motility by RhoA/ROCK and PAK1. (PMID: 15611088) Zhou H … Kramer RH (The Journal of biological chemistry 2005) 3 4 23 56
  3. Pak1 phosphorylation of snail, a master regulator of epithelial-to-mesenchyme transition, modulates snail's subcellular localization and functions. (PMID: 15833848) Yang Z … Kumar R (Cancer research 2005) 3 4 23 56
  4. The C-terminal kinase domain of the p34cdc2-related PITSLRE protein kinase (p110C) associates with p21-activated kinase 1 and inhibits its activity during anoikis. (PMID: 12624090) Chen S … Gu J (The Journal of biological chemistry 2003) 3 4 23 56
  5. Pak1 kinase homodimers are autoinhibited in trans and dissociated upon activation by Cdc42 and Rac1. (PMID: 11804587) Parrini MC … Mayer BJ (Molecular cell 2002) 3 4 23 56

Products for PAK1 Gene

  • Addgene plasmids for PAK1

Sources for PAK1 Gene