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

    Gene ID: 56924, updated on 28-Oct-2024

    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; AllianceGenome:HGNC:16061
    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
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    Genomic context

    See PAK6 in Genome Data Viewer
    Location:
    15q15.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40239063..40277487)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (38045955..38084404)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40531264..40569688)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40428847-40429621 Neighboring gene MT-ND4 pseudogene 37 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40449670-40450530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9237 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40453661-40454425 Neighboring gene uncharacterized LOC107984763 Neighboring gene BUB1 mitotic checkpoint serine/threonine kinase B Neighboring gene MPRA-validated peak2300 silencer Neighboring gene BUB1B-PAK6 readthrough Neighboring gene MPRA-validated peak2301 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40520705-40521206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40534525-40535024 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40537349-40537850 Neighboring gene Sharpr-MPRA regulatory region 12967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40548820-40549617 Neighboring gene PAK6 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40564915-40565416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40566138-40566638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40572232-40573016 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6322 Neighboring gene ankyrin repeat domain 63 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40583508-40584053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40584054-40584598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9239 Neighboring gene phospholipase C beta 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40594309-40595118

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough BUB1B-PAK6

    Readthrough gene: BUB1B-PAK6, Included gene: BUB1B

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cadherin binding HDA PubMed 
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to starvation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytoskeleton organization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in learning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron projection arborization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron projection extension IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA-templated transcription TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of MAPK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    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_001382359.1
    NP_001382360.1
    NP_064553.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      26636..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
      UniProtKB/Swiss-Prot
      A8K2G2, B3KYB0, G5E9R2, Q9NQU5
      Related
      ENSP00000439597.2, ENST00000542403.3
      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_001276718.2NP_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, ENST00000455577.6
      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_001395430.1NP_001382359.1  serine/threonine-protein kinase PAK 6 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC020658
      UniProtKB/Swiss-Prot
      A8K2G2, B3KYB0, G5E9R2, Q9NQU5
      Related
      ENSP00000453858.1, ENST00000560346.6
      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
    4. NM_001395431.1NP_001382360.1  serine/threonine-protein kinase PAK 6 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC020658
      UniProtKB/Swiss-Prot
      A8K2G2, B3KYB0, G5E9R2, Q9NQU5
      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
    5. NM_020168.6NP_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)
      AC020658
      UniProtKB/Swiss-Prot
      A8K2G2, B3KYB0, G5E9R2, Q9NQU5
      Related
      ENSP00000260404.4, ENST00000260404.8
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      40239063..40277487
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      38045955..38084404
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)