Human Gene PAK1 (uc001oyg.4)
  Description: Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 1 (PAK1), transcript variant 1, mRNA.
RefSeq Summary (NM_001128620): 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].
Transcript (Including UTRs)
   Position: hg19 chr11:77,033,060-77,185,108 Size: 152,049 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg19 chr11:77,034,344-77,103,565 Size: 69,222 Coding Exon Count: 15 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:77,033,060-77,185,108)mRNA (may differ from genome)Protein (553 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedReactomeTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PAK1
CDC HuGE Published Literature: PAK1
Positive Disease Associations: Audiometry, Pure-Tone , Body Height , esophageal cancer , Jaw Abnormalities , Parkinson Disease
Related Studies:
  1. Audiometry, Pure-Tone
    , , . [PubMed 0]
  2. Audiometry, Pure-Tone
    , , . [PubMed 0]
  3. Body Height
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: PAK1
Diseases sorted by gene-association score: thymic neuroendocrine tumor (4), breast cancer (3), renal cell carcinoma (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 81.62 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 925.50 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -223.90533-0.420 Picture PostScript Text
3' UTR -384.191284-0.299 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00069 - Protein kinase domain
PF00786 - P21-Rho-binding domain
PF07714 - Protein tyrosine kinase

SCOP Domains:
56112 - Protein kinase-like (PK-like)

ModBase Predicted Comparative 3D Structure on Q13153-2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  LF213743 - JP 2014500723-A/21246: Polycomb-Associated Non-Coding RNAs.
LF384290 - JP 2014500723-A/191793: Polycomb-Associated Non-Coding RNAs.
AK055228 - Homo sapiens cDNA FLJ30666 fis, clone FCBBF1000627, highly similar to Serine/threonine-protein kinase PAK 1 (EC 2.7.11.1).
BC050377 - Homo sapiens p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast), mRNA (cDNA clone IMAGE:5763796).
BC109298 - Homo sapiens p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast), mRNA (cDNA clone IMAGE:40034481).
BC109299 - Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 1, mRNA (cDNA clone MGC:130001 IMAGE:40034484), complete cds.
AK293098 - Homo sapiens cDNA FLJ77226 complete cds, highly similar to Homo sapiens p21 activated kinase 1B (PAK1B) mRNA.
U24152 - Homo sapiens p21-activated protein kinase (Pak1) mRNA, complete cds.
AK296006 - Homo sapiens cDNA FLJ51645 complete cds, highly similar to Serine/threonine-protein kinase P>AK 1 (EC 2.7.11.1).
AF071884 - Homo sapiens p21 activated kinase 1B (PAK1B) mRNA, complete cds.
U51120 - Human protein kinase PAK1 mRNA, complete cds.
EU832767 - Synthetic construct Homo sapiens clone HAIB:100067796; DKFZo008A1033 p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast) protein (PAK1) gene, encodes complete protein.
KJ891750 - Synthetic construct Homo sapiens clone ccsbBroadEn_01144 PAK1 gene, encodes complete protein.
GQ129310 - Synthetic construct Homo sapiens clone HAIB:100068457; DKFZo004A1034 p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast) protein (PAK1) gene, partial cds.
MA619867 - JP 2018138019-A/191793: Polycomb-Associated Non-Coding RNAs.
MA449320 - JP 2018138019-A/21246: Polycomb-Associated Non-Coding RNAs.
JD521721 - Sequence 502745 from Patent EP1572962.
LF369039 - JP 2014500723-A/176542: Polycomb-Associated Non-Coding RNAs.
JD154006 - Sequence 135030 from Patent EP1572962.
JD101135 - Sequence 82159 from Patent EP1572962.
JD042501 - Sequence 23525 from Patent EP1572962.
JD037729 - Sequence 18753 from Patent EP1572962.
AK295344 - Homo sapiens cDNA FLJ51644 complete cds, highly similar to Serine/threonine-protein kinase P>AK 1 (EC 2.7.11.1).
LF369037 - JP 2014500723-A/176540: Polycomb-Associated Non-Coding RNAs.
LF369030 - JP 2014500723-A/176533: Polycomb-Associated Non-Coding RNAs.
MA604616 - JP 2018138019-A/176542: Polycomb-Associated Non-Coding RNAs.
MA604614 - JP 2018138019-A/176540: Polycomb-Associated Non-Coding RNAs.
MA604607 - JP 2018138019-A/176533: Polycomb-Associated Non-Coding RNAs.
LF369025 - JP 2014500723-A/176528: Polycomb-Associated Non-Coding RNAs.
LF369021 - JP 2014500723-A/176524: Polycomb-Associated Non-Coding RNAs.
LF369020 - JP 2014500723-A/176523: Polycomb-Associated Non-Coding RNAs.
LF369011 - JP 2014500723-A/176514: Polycomb-Associated Non-Coding RNAs.
JD393655 - Sequence 374679 from Patent EP1572962.
JD402340 - Sequence 383364 from Patent EP1572962.
JD111379 - Sequence 92403 from Patent EP1572962.
JD454619 - Sequence 435643 from Patent EP1572962.
JD385372 - Sequence 366396 from Patent EP1572962.
JD251284 - Sequence 232308 from Patent EP1572962.
JD399179 - Sequence 380203 from Patent EP1572962.
JD391939 - Sequence 372963 from Patent EP1572962.
JD443169 - Sequence 424193 from Patent EP1572962.
JD298118 - Sequence 279142 from Patent EP1572962.
JD205769 - Sequence 186793 from Patent EP1572962.
JD403218 - Sequence 384242 from Patent EP1572962.
MA604602 - JP 2018138019-A/176528: Polycomb-Associated Non-Coding RNAs.
MA604598 - JP 2018138019-A/176524: Polycomb-Associated Non-Coding RNAs.
MA604597 - JP 2018138019-A/176523: Polycomb-Associated Non-Coding RNAs.
MA604588 - JP 2018138019-A/176514: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa04012 - ErbB signaling pathway
hsa04062 - Chemokine signaling pathway
hsa04360 - Axon guidance
hsa04510 - Focal adhesion
hsa04650 - Natural killer cell mediated cytotoxicity
hsa04660 - T cell receptor signaling pathway
hsa04666 - Fc gamma R-mediated phagocytosis
hsa04810 - Regulation of actin cytoskeleton
hsa05120 - Epithelial cell signaling in Helicobacter pylori infection
hsa05211 - Renal cell carcinoma

BioCarta from NCI Cancer Genome Anatomy Project
h_At1rPathway - Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling
h_fMLPpathway - fMLP induced chemokine gene expression in HMC-1 cells
h_mapkPathway - MAPKinase Signaling Pathway
h_RacCycDPathway - Influence of Ras and Rho proteins on G1 to S Transition
h_cdc42racPathway - Role of PI3K subunit p85 in regulation of Actin Organization and Cell Migration
h_rac1Pathway - Rac 1 cell motility signaling pathway
h_pyk2Pathway - Links between Pyk2 and Map Kinases
h_tnfr1Pathway - TNFR1 Signaling Pathway
h_metPathway - Signaling of Hepatocyte Growth Factor Receptor
h_nkcellsPathway - Ras-Independent pathway in NK cell-mediated cytotoxicity
h_fasPathway - FAS signaling pathway ( CD95 )
h_agrPathway - Agrin in Postsynaptic Differentiation

Reactome (by CSHL, EBI, and GO)

Protein Q13153 (Reactome details) participates in the following event(s):

R-HSA-445072 Interaction of PAK1 with Rac1-GTP
R-HSA-2029456 RAC1 and CDC42 activate PAK1
R-HSA-5669240 FLNA binds PAK1
R-HSA-2029454 Autophosphorylation of PAK1
R-HSA-5669250 PAK1 phosphorylates FLNA
R-HSA-3928619 PAK1 binds RAC1:GTP
R-HSA-5669158 NF2 binds PAK1
R-HSA-430183 NCK binds PAK
R-HSA-389788 Activation of PAKs by RAC1 and CDC42
R-HSA-399930 Activation of PAK by Rac1
R-HSA-3928641 PAK binds RAC and bPIX
R-HSA-428531 Recruitment of PAK to NCK
R-HSA-5357472 PAK1-3 autophosphorylates
R-HSA-5627775 Autophosphorylation of PAK1,2,3
R-HSA-2730856 Autophosphorylation of PAK
R-HSA-2029460 PAK1 phosphorylates LIMK1
R-HSA-5668947 PAK1 phosphorylates myosin phosphatase
R-HSA-376123 DSCAM associates with Rac1-GTP:pPAK1
R-HSA-3928620 PAK1 autophosphorylates
R-HSA-5357483 RAC1 binds PAK1-3
R-HSA-2730889 Recruitment of PAK to the membrane by binding active RAC1
R-HSA-399939 Autophosphorylation of PAK
R-HSA-5357445 PAK1-3 dimer disassociates
R-HSA-5624492 PAK phosphorylates p21 RAF1 on S338
R-HSA-3928625 PAKs autophosphorylate
R-HSA-442832 PAK phosphorylates cortactin
R-HSA-5687086 PAK1,2,3 phosphorylates MAPK6,4
R-HSA-5357477 PAK1-3 phosphorylates VE-cadherin
R-HSA-5668984 PAK1 or PAK2 phosphorylates MYLK
R-HSA-399952 Phosphorylation of LIMK-1 by PAK
R-HSA-451347 Activation of JNK by DSCAM
R-HSA-3928640 PAKs phosphorylate MLC
R-HSA-445144 Signal transduction by L1
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-5627123 RHO GTPases activate PAKs
R-HSA-3928662 EPHB-mediated forward signaling
R-HSA-202433 Generation of second messenger molecules
R-HSA-389359 CD28 dependent Vav1 pathway
R-HSA-5687128 MAPK6/MAPK4 signaling
R-HSA-399954 Sema3A PAK dependent Axon repulsion
R-HSA-3928664 Ephrin signaling
R-HSA-428540 Activation of RAC1
R-HSA-373760 L1CAM interactions
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis
R-HSA-195258 RHO GTPase Effectors
R-HSA-5218920 VEGFR2 mediated vascular permeability
R-HSA-2871796 FCERI mediated MAPK activation
R-HSA-376172 DSCAM interactions
R-HSA-2682334 EPH-Ephrin signaling
R-HSA-202403 TCR signaling
R-HSA-389356 CD28 co-stimulation
R-HSA-5683057 MAPK family signaling cascades
R-HSA-373755 Semaphorin interactions
R-HSA-5621575 CD209 (DC-SIGN) signaling
R-HSA-376176 Signaling by ROBO receptors
R-HSA-422475 Axon guidance
R-HSA-168249 Innate Immune System
R-HSA-194315 Signaling by Rho GTPases
R-HSA-4420097 VEGFA-VEGFR2 Pathway
R-HSA-2454202 Fc epsilon receptor (FCERI) signaling
R-HSA-373752 Netrin-1 signaling
R-HSA-1280218 Adaptive Immune System
R-HSA-388841 Costimulation by the CD28 family
R-HSA-162582 Signal Transduction
R-HSA-5621481 C-type lectin receptors (CLRs)
R-HSA-1266738 Developmental Biology
R-HSA-168256 Immune System
R-HSA-194138 Signaling by VEGF
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001128620, NP_001122092, Q13153-2
UCSC ID: uc001oyg.4
RefSeq Accession: NM_001128620
Protein: Q13153-2, splice isoform of Q13153 CCDS: CCDS44687.1, CCDS8250.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001128620.1
exon count: 16CDS single in 3' UTR: no RNA size: 3484
ORF size: 1662CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3524.00frame shift in genome: no % Coverage: 99.86
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.