Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5058
Gene name Gene Name - the full gene name approved by the HGNC.
P21 (RAC1) activated kinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PAK1
Synonyms (NCBI Gene) Gene synonyms aliases
IDDMSSD, PAKalpha, alpha-PAK, p65-PAK
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IDDMSSD
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.5-q14.1
Summary Summary of gene provided in NCBI Entrez 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 G
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1565583382 T>C Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs1565638316 T>C Likely-pathogenic Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1591695781 A>G Likely-pathogenic Missense variant, intron variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000991 hsa-miR-377-3p Luciferase reporter assay, Western blot 18716028
MIRT000668 hsa-miR-7-5p Review 19935707
MIRT000668 hsa-miR-7-5p Luciferase reporter assay, Western blot 18922890
MIRT005336 mmu-miR-465a-5p Luciferase reporter assay, Western blot 18922890
MIRT023312 hsa-miR-122-5p Microarray 17612493
Transcription factors
Transcription factor Regulation Reference
HLX Unknown 22897850
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IDA 8805275
GO:0001666 Process Response to hypoxia IEA
GO:0001726 Component Ruffle IDA 12912914
GO:0001934 Process Positive regulation of protein phosphorylation IMP 23633677
GO:0002223 Process Stimulatory C-type lectin receptor signaling pathway TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602590 8590 ENSG00000149269
Protein
UniProt ID Q13153
Protein name Serine/threonine-protein kinase PAK 1 (EC 2.7.11.1) (Alpha-PAK) (p21-activated kinase 1) (PAK-1) (p65-PAK)
Protein 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-m
PDB 1F3M , 1YHV , 1YHW , 1ZSG , 2HY8 , 2QME , 3DVP , 3FXZ , 3FY0 , 3Q4Z , 3Q52 , 3Q53 , 4DAW , 4EQC , 4O0R , 4O0T , 4P90 , 4ZJI , 4ZJJ , 4ZLO , 4ZY4 , 4ZY5 , 4ZY6 , 5DEW , 5DEY , 5DFP , 5IME , 5KBQ , 5KBR , 6B16 , 7VTO , 8X5Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00786 PBD 74 132 P21-Rho-binding domain Domain
PF00069 Pkinase 270 521 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Overexpressed in gastric cancer cells and tissues (at protein level) (PubMed:25766321). {ECO:0000269|PubMed:25766321}.
Sequence
MSNNGLDIQDKPPAPPMRNTSTMIGAGSKDAGTLNHGSKPLPPNPEEKKKKDRFYRSILP
GDKTNKKKEKERPEISLPSDFEHTIHVGFDAVTGEFTGMPEQWARLLQTSNITKSEQKKN
PQAVLDVLEFYN
SKKTSNSQKYMSFTDKSAEDYNSSNALNVKAVSETPAVPPVSEDEDDD
DDDATPPPVIAPRPEHTKSVYTRSVIEPLPVTPTRDVATSPISPTENNTTPPDALTRNTE
KQKKKPKMSDEEILEKLRSIVSVGDPKKKYTRFEKIGQGASGTVYTAMDVATGQEVAIKQ
MNLQQQPKKELIINEILVMRENKNPNIVNYLDSYLVGDELWVVMEYLAGGSLTDVVTETC
MDEGQIAAVCRECLQALEFLHSNQVIHRDIKSDNILLGMDGSVKLTDFGFCAQITPEQSK
RSTMVGTPYWMAPEVVTRKAYGPKVDIWSLGIMAIEMIEGEPPYLNENPLRALYLIATNG
TPELQNPEKLSAIFRDFLNRCLEMDVEKRGSAKELLQHQFL
KIAKPLSSLTPLIAAAKEA
TKNNH
Sequence length 545
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  MAPK signaling pathway
ErbB signaling pathway
Ras signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
Axon guidance
Hippo signaling pathway - multiple species
Focal adhesion
C-type lectin receptor signaling pathway
Natural killer cell mediated cytotoxicity
T cell receptor signaling pathway
Fc gamma R-mediated phagocytosis
Regulation of actin cytoskeleton
Epithelial cell signaling in Helicobacter pylori infection
Pathogenic Escherichia coli infection
Salmonella infection
Human immunodeficiency virus 1 infection
Proteoglycans in cancer
Renal cell carcinoma
  Generation of second messenger molecules
Regulation of actin dynamics for phagocytic cup formation
FCERI mediated MAPK activation
DSCAM interactions
CD28 dependent Vav1 pathway
EPHB-mediated forward signaling
Ephrin signaling
Sema3A PAK dependent Axon repulsion
Signal transduction by L1
Smooth Muscle Contraction
VEGFR2 mediated vascular permeability
CD209 (DC-SIGN) signaling
RHO GTPases activate PAKs
MAPK6/MAPK4 signaling
G beta:gamma signalling through CDC42
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
20179234
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
20179234
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY rs1565638316, rs1565583382, rs1591695781 30290153, 31504246
Unknown
Disease term Disease name Evidence References Source
Chromophobe carcinoma Chromophobe Renal Cell Carcinoma 17621631 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Stimulate 24236193
Adenomatous Polyps Stimulate 26423403
Adenomyosis Stimulate 20079895
Alopecia Associate 28098826
Anemia Hemolytic Associate 26466379
Asthma Associate 35606385
Autistic Disorder Associate 31504246
Brain Diseases Associate 33945512
Breast Neoplasms Associate 10766836, 10945974, 12151336, 15178330, 16026643, 18283314, 18392133, 18411304, 18922890, 19317917, 21209852, 22105362, 23289893, 23339187, 23361053
View all (9 more)
Carcinogenesis Associate 25569743, 25902869, 26377044, 26884861, 27229476, 28186966, 32186433, 36443711