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PAK6 p21 (RAC1) activated kinase 6 [ Homo sapiens (human) ]

Gene ID: 56924, updated on 18-Nov-2018

Summary

Official Symbol
PAK6provided by HGNC
Official Full Name
p21 (RAC1) activated kinase 6provided by HGNC
Primary source
HGNC:HGNC:16061
See related
Ensembl:ENSG00000137843 MIM:608110; Vega:OTTHUMG00000129921
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PAK5
Summary
This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Expression
Broad expression in testis (RPKM 8.7), brain (RPKM 8.5) and 14 other tissues See more
Orthologs

Genomic context

See PAK6 in Genome Data Viewer
Location:
15q15.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (40239091..40277487)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40509629..40569688)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene MT-ND5 pseudogene 37 Neighboring gene uncharacterized LOC107984763 Neighboring gene BUB1 mitotic checkpoint serine/threonine kinase B Neighboring gene BUB1B-PAK6 readthrough Neighboring gene chromosome 15 open reading frame 56 Neighboring gene ankyrin repeat domain 63 Neighboring gene phospholipase C beta 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

  • Activation of Rac, organism-specific biosystem (from REACTOME)
    Activation of Rac, organism-specific biosystemA low level of Rac activity is essential to maintain axon outgrowth and Robo activation recruits Sos, a dual specificity GEF to the plasma membrane via Dock to activate Rac during midline repulsion.
  • Androgen receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Androgen receptor signaling pathway, organism-specific biosystemAndrogens, mainly testosterone and 5alpha-dihydrotestosterone (DHT) play significant role in the growth and development of the male reproductive organs. These steroid hormones bring about their biolo...
  • Axon guidance, organism-specific biosystem (from KEGG)
    Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, conserved biosystem (from KEGG)
    Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • ErbB signaling pathway, organism-specific biosystem (from KEGG)
    ErbB signaling pathway, organism-specific biosystemThe ErbB family of receptor tyrosine kinases (RTKs) couples binding of extracellular growth factor ligands to intracellular signaling pathways regulating diverse biologic responses, including prolife...
  • ErbB signaling pathway, conserved biosystem (from KEGG)
    ErbB signaling pathway, conserved biosystemThe ErbB family of receptor tyrosine kinases (RTKs) couples binding of extracellular growth factor ligands to intracellular signaling pathways regulating diverse biologic responses, including prolife...
  • Focal Adhesion, organism-specific biosystem (from WikiPathways)
    Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, organism-specific biosystem (from KEGG)
    Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, conserved biosystem (from KEGG)
    Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Integrin-mediated Cell Adhesion, organism-specific biosystem (from WikiPathways)
    Integrin-mediated Cell Adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
  • Ras signaling pathway, organism-specific biosystem (from KEGG)
    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
  • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
    Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
  • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
    Regulation of actin cytoskeleton, organism-specific biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
    Regulation of actin cytoskeleton, conserved biosystem
    Regulation of actin cytoskeleton
  • Renal cell carcinoma, organism-specific biosystem (from KEGG)
    Renal cell carcinoma, organism-specific biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
  • Renal cell carcinoma, conserved biosystem (from KEGG)
    Renal cell carcinoma, conserved biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
  • Signaling by Robo receptor, organism-specific biosystem (from REACTOME)
    Signaling by Robo receptor, organism-specific biosystemThe Roundabout (Robo) family encodes transmembrane receptors that regulate axonal guidance and cell migration. The major function of the Robo receptors is to mediate repulsion of the navigating growt...
  • T cell receptor signaling pathway, organism-specific biosystem (from KEGG)
    T cell receptor signaling pathway, organism-specific biosystemActivation of T lymphocytes is a key event for an efficient response of the immune system. It requires the involvement of the T-cell receptor (TCR) as well as costimulatory molecules such as CD28. En...
  • T cell receptor signaling pathway, conserved biosystem (from KEGG)
    T cell receptor signaling pathway, conserved biosystemActivation of T lymphocytes is a key event for an efficient response of the immune system. It requires the involvement of the T-cell receptor (TCR) as well as costimulatory molecules such as CD28. En...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough BUB1B-PAK6

Readthrough gene: BUB1B-PAK6, Included gene: BUB1B

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
Rac GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cadherin binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
activation of protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apoptotic process TAS
Traceable Author Statement
more info
PubMed 
cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton organization TAS
Traceable Author Statement
more info
PubMed 
regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
signal transduction by protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
stress-activated protein kinase signaling cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cell junction IDA
Inferred from Direct Assay
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fibrillar center IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
serine/threonine-protein kinase PAK 6
Names
p21 protein (Cdc42/Rac)-activated kinase 6
p21(CDKN1A)-activated kinase 6
NP_001263646.1
NP_001263647.1
NP_064553.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033169.1 RefSeqGene

    Range
    26664..65060
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001276717.1NP_001263646.1  serine/threonine-protein kinase PAK 6 isoform 1

    See identical proteins and their annotated locations for NP_001263646.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and the 3' UTR, compared to variant 1. Variants 1 and 4 encode the same isoform (1).
    Source sequence(s)
    BC035596, DA191028
    Consensus CDS
    CCDS10054.1
    UniProtKB/Swiss-Prot
    Q9NQU5
    UniProtKB/TrEMBL
    A0A024R9Q4
    Related
    ENSP00000439597.2, OTTHUMP00000248344, ENST00000542403.3, OTTHUMT00000418355
    Conserved Domains (2) summary
    cd06659
    Location:385681
    STKc_PAK6; Catalytic domain of the Serine/Threonine Kinase, p21-activated kinase 6
    pfam00786
    Location:1167
    PBD; P21-Rho-binding domain
  2. NM_001276718.1NP_001263647.1  serine/threonine-protein kinase PAK 6 isoform 2

    See identical proteins and their annotated locations for NP_001263647.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC020658, AK026592, AK131522, BC035596
    Consensus CDS
    CCDS61590.1
    UniProtKB/Swiss-Prot
    Q9NQU5
    Related
    ENSP00000409465.2, OTTHUMP00000248334, ENST00000455577.6, OTTHUMT00000418345
    Conserved Domains (3) summary
    smart00220
    Location:412613
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    pfam00786
    Location:1163
    PBD; P21-Rho-binding domain
    cl21453
    Location:385636
    PKc_like; Protein Kinases, catalytic domain
  3. NM_020168.5NP_064553.1  serine/threonine-protein kinase PAK 6 isoform 1

    See identical proteins and their annotated locations for NP_064553.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 4 encode the same isoform (1).
    Source sequence(s)
    AJ236915, AK026592, AK131522, DA229537, HY128655
    Consensus CDS
    CCDS10054.1
    UniProtKB/Swiss-Prot
    Q9NQU5
    UniProtKB/TrEMBL
    A0A024R9Q4
    Related
    ENSP00000260404.4, OTTHUMP00000160372, ENST00000260404.8, OTTHUMT00000252175
    Conserved Domains (2) summary
    cd06659
    Location:385681
    STKc_PAK6; Catalytic domain of the Serine/Threonine Kinase, p21-activated kinase 6
    pfam00786
    Location:1167
    PBD; P21-Rho-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    40239091..40277487
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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