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

Gene ID: 56924, updated on 19-Sep-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)

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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)