Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 10298
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol PAK4   Gene   UCSC   Ensembl
Gene name p21 (RAC1) activated kinase 4
Alternate names serine/threonine-protein kinase PAK 4, p21 protein (Cdc42/Rac)-activated kinase 4, p21(CDKN1A)-activated kinase 4, protein kinase related to S. cerevisiae STE20, effector for Cdc42Hs,
Gene location 19q13.2 (39125779: 39179405)     Exons: 14     NC_000019.10
Gene summary(Entrez) PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. They serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK4 interacts specifically with the GTP-bound form of Cdc42Hs and weakly activates the JNK family of MAP kinases. PAK4 is a mediator of filopodia formation and may play a role in the reorganization of the actin cytoskeleton. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
OMIM 605451

Protein Summary

Protein general information O96013  

Name: Serine/threonine protein kinase PAK 4 (EC 2.7.11.1) (p21 activated kinase 4) (PAK 4)

Length: 591  Mass: 64,072

Tissue specificity: Highest expression in prostate, testis and colon.

Sequence MFGKRKKRVEISAPSNFEHRVHTGFDQHEQKFTGLPRQWQSLIEESARRPKPLVDPACITSIQPGAPKTIVRGSK
GAKDGALTLLLDEFENMSVTRSNSLRRDSPPPPARARQENGMPEEPATTARGGPGKAGSRGRFAGHSEAGGGSGD
RRRAGPEKRPKSSREGSGGPQESSRDKRPLSGPDVGTPQPAGLASGAKLAAGRPFNTYPRADTDHPSRGAQGEPH
DVAPNGPSAGGLAIPQSSSSSSRPPTRARGAPSPGVLGPHASEPQLAPPACTPAAPAVPGPPGPRSPQREPQRVS
HEQFRAALQLVVDPGDPRSYLDNFIKIGEGSTGIVCIATVRSSGKLVAVKKMDLRKQQRRELLFNEVVIMRDYQH
ENVVEMYNSYLVGDELWVVMEFLEGGALTDIVTHTRMNEEQIAAVCLAVLQALSVLHAQGVIHRDIKSDSILLTH
DGRVKLSDFGFCAQVSKEVPRRKSLVGTPYWMAPELISRLPYGPEVDIWSLGIMVIEMVDGEPPYFNEPPLKAMK
MIRDNLPPRLKNLHKVSPSLKGFLDRLLVRDPAQRATAAELLKHPFLAKAGPPASIVPLMRQNRTR
Structural information
Protein Domains
CRIB. (11-24)
Protein (321-572)
Interpro:  IPR000095 IPR011009 IPR033923 IPR000719 IPR017441
Prosite:   PS50108 PS00107 PS50011

Pfam:  
PF00786 PF00069
CDD:   cd01093

PDB:  
2BVA 2CDZ 2J0I 2OV2 2Q0N 2X4Z 4APP 4FIE 4FIF 4FIG 4FIH 4FII 4FIJ 4JDH 4JDI 4JDJ 4JDK 4L67 4NJD 4O0V 4O0X 4O0Y 4XBR 4XBU 5BMS 5I0B
PDBsum:   2BVA 2CDZ 2J0I 2OV2 2Q0N 2X4Z 4APP 4FIE 4FIF 4FIG 4FIH 4FII 4FIJ 4JDH 4JDI 4JDJ 4JDK 4L67 4NJD 4O0V 4O0X 4O0Y 4XBR 4XBU 5BMS 5I0B

DIP:  
39742
MINT:   1387795
STRING:   ENSP00000351049;
Other Databases GeneCards:  PAK4;  Malacards:  PAK4

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004672 protein kinase activity
NAS molecular_function
GO:0004702 signal transducer, downst
ream of receptor, with se
rine/threonine kinase act
ivity
IBA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005794 Golgi apparatus
TAS cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006915 apoptotic process
TAS biological_process
GO:0006928 movement of cell or subce
llular component
TAS biological_process
GO:0007010 cytoskeleton organization
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0008283 cell proliferation
TAS biological_process
GO:0016049 cell growth
TAS biological_process
GO:0016477 cell migration
TAS biological_process
GO:0023014 signal transduction by pr
otein phosphorylation
IEA biological_process
GO:0060996 dendritic spine developme
nt
IEA biological_process
GO:0071407 cellular response to orga
nic cyclic compound
IEA biological_process
GO:0000278 mitotic cell cycle
IBA biological_process
GO:0000166 nucleotide binding
IEA molecular_function
GO:0004672 protein kinase activity
IEA molecular_function
GO:0004672 protein kinase activity
IEA molecular_function
GO:0004672 protein kinase activity
NAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
IEA molecular_function
GO:0004702 signal transducer, downst
ream of receptor, with se
rine/threonine kinase act
ivity
IBA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005794 Golgi apparatus
TAS cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006468 protein phosphorylation
IEA biological_process
GO:0006915 apoptotic process
IEA biological_process
GO:0006915 apoptotic process
TAS biological_process
GO:0006928 movement of cell or subce
llular component
TAS biological_process
GO:0007010 cytoskeleton organization
TAS biological_process
GO:0007049 cell cycle
IEA biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0008283 cell proliferation
TAS biological_process
GO:0016049 cell growth
TAS biological_process
GO:0016301 kinase activity
IEA molecular_function
GO:0016310 phosphorylation
IEA biological_process
GO:0016477 cell migration
TAS biological_process
GO:0016740 transferase activity
IEA molecular_function
GO:0023014 signal transduction by pr
otein phosphorylation
IEA biological_process
GO:0060996 dendritic spine developme
nt
IEA biological_process
GO:0071407 cellular response to orga
nic cyclic compound
IEA biological_process
GO:0000278 mitotic cell cycle
IBA biological_process
GO:0004672 protein kinase activity
NAS molecular_function
GO:0004702 signal transducer, downst
ream of receptor, with se
rine/threonine kinase act
ivity
IBA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005794 Golgi apparatus
TAS cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006915 apoptotic process
TAS biological_process
GO:0006928 movement of cell or subce
llular component
TAS biological_process
GO:0007010 cytoskeleton organization
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0008283 cell proliferation
TAS biological_process
GO:0016049 cell growth
TAS biological_process
GO:0016477 cell migration
TAS biological_process
GO:0000278 mitotic cell cycle
IBA biological_process

KEGG pathways

hsa05206  MicroRNAs in cancer
hsa04014  Ras signaling pathway
hsa04510  Focal adhesion
hsa04810  Regulation of actin cytoskeleton
hsa04360  Axon guidance
hsa04660  T cell receptor signaling pathway
hsa04012  ErbB signaling pathway
hsa05211  Renal cell carcinoma

Diseases

Associated diseases References
Endometriosis PMID: 23293332
Endometriosis INFBASE23293332
Parkinson's disease PMID: 18628988

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23293332 Endometrio
sis

72 (38 women wi
th endometriosi
s, 34 women wit
h carcinoma in
situ of the ute
rine cervix as
controls)
TNF
PAK4
Show abstract