Seroatlas · Human Serome Atlas

PAK1

Serine/threonine-protein kinase PAK 1

Also known as: PAK1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q13153
Gene
PAK1
Ensembl
ENSG00000149269
Chromosome
11
Canonical length
545 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, RAS pathway related proteins
Subcellular location
Plasma membrane,Cytosol
Quaternary structure
Homodimer

OverviewNCBI 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. Mutations in this gene have been associated with macrocephaly, seizures, and speech delay. Overexpression of this gene is also reported in many cancer types, and particularly in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020]

Canonical amino-acid sequenceUniProt

545 residues, UniProt reviewed canonical sequence.

>Q13153|PAK1
     1  MSNNGLDIQD KPPAPPMRNT STMIGAGSKD AGTLNHGSKP LPPNPEEKKK KDRFYRSILP
    61  GDKTNKKKEK ERPEISLPSD FEHTIHVGFD AVTGEFTGMP EQWARLLQTS NITKSEQKKN
   121  PQAVLDVLEF YNSKKTSNSQ KYMSFTDKSA EDYNSSNALN VKAVSETPAV PPVSEDEDDD
   181  DDDATPPPVI APRPEHTKSV YTRSVIEPLP VTPTRDVATS PISPTENNTT PPDALTRNTE
   241  KQKKKPKMSD EEILEKLRSI VSVGDPKKKY TRFEKIGQGA SGTVYTAMDV ATGQEVAIKQ
   301  MNLQQQPKKE LIINEILVMR ENKNPNIVNY LDSYLVGDEL WVVMEYLAGG SLTDVVTETC
   361  MDEGQIAAVC RECLQALEFL HSNQVIHRDI KSDNILLGMD GSVKLTDFGF CAQITPEQSK
   421  RSTMVGTPYW MAPEVVTRKA YGPKVDIWSL GIMAIEMIEG EPPYLNENPL RALYLIATNG
   481  TPELQNPEKL SAIFRDFLNR CLEMDVEKRG SAKELLQHQF LKIAKPLSSL TPLIAAAKEA
   541  TKNNH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PAK1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.4
Highest tissue expression
119 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 119 nTPM
  • cerebellum: 85 nTPM
  • skeletal muscle: 80 nTPM
  • bone marrow: 55 nTPM
  • amygdala: 48 nTPM
  • rectum: 44 nTPM

Single-cell type

  • neutrophils: 806 nCPM
  • mast cells: 502 nCPM
  • cdc: 375 nCPM
  • podocytes: 374 nCPM
  • foveolar cells: 275 nCPM
  • pituitary stem cells: 237 nCPM

Immune cell

  • neutrophil: 434 nTPM
  • eosinophil: 293 nTPM
  • myeloid DC: 265 nTPM
  • non-classical monocyte: 204 nTPM
  • classical monocyte: 182 nTPM
  • intermediate monocyte: 178 nTPM

Brain region

  • cerebral cortex: 192 nTPM
  • basal ganglia: 147 nTPM
  • white matter: 132 nTPM
  • pons: 112 nTPM
  • thalamus: 108 nTPM
  • cerebellum: 101 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PAK1.

Disease | AllUniProt

Conditions PAK1 is implicated in, by any mechanism.

  • Intellectual developmental disorder with macrocephaly, seizures, and speech delay (IDDMSSD) MIM:618158

Disease | GeneticClinVar

25 pathogenic / likely-pathogenic of 165 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Intellectual developmental disorder with macrocephaly, seizures, and speech delay
  • PAK1-related disorder
  • See cases
  • PAK1-related neurodevelopmental disorders
  • Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.56
gnomAD pLI
0
gnomAD missense Z
4
DepMap mean gene effect
-0.17
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PAK1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PAK1 as an antibody target. Whether an autoantibody or antibody against PAK1 could matter depends on whether native PAK1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PAK1 is annotated at the cell surface, where native PAK1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label PAK1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PAK1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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