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    CDC42BPB CDC42 binding protein kinase beta [ Homo sapiens (human) ]

    Gene ID: 9578, updated on 27-Nov-2024

    Summary

    Official Symbol
    CDC42BPBprovided by HGNC
    Official Full Name
    CDC42 binding protein kinase betaprovided by HGNC
    Primary source
    HGNC:HGNC:1738
    See related
    Ensembl:ENSG00000198752 MIM:614062; AllianceGenome:HGNC:1738
    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
    MRCKB; CHOCNS
    Summary
    This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 24.8), fat (RPKM 20.9) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CDC42BPB in Genome Data Viewer
    Location:
    14q32.32
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (102932380..103057549, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (97168625..97293800, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (103398717..103523886, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene TNF receptor associated factor 3 Neighboring gene RNA, U6 small nuclear 1316, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:103352003-103353202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103357046-103357546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103357547-103358047 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103366521-103367022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103367023-103367522 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9091 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103379429-103380018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103380019-103380608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103380952-103381452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6134 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:103390587-103390785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6135 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6136 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:103411482-103412681 Neighboring gene amnion associated transmembrane protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103452779-103453413 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103453414-103454047 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103464738-103465284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9093 Neighboring gene Sharpr-MPRA regulatory region 6354 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103486267-103486822 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:103489632-103489899 Neighboring gene Sharpr-MPRA regulatory region 14595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103524373-103525023 Neighboring gene ribosomal protein L13 pseudogene 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103541151-103541742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103559931-103560500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103561071-103561640 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:103564684-103564853 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103576643-103577253 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103576032-103576642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9095 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103570895-103571645 Neighboring gene LBH domain containing 2 Neighboring gene exocyst complex component 3 like 4

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Chilton-Okur-Chung neurodevelopmental syndrome
    MedGen: C5677022 OMIM: 619841 GeneReviews: Not available
    not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2018-10-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2018-10-24)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ37601, FLJ44730, KIAA1124, DKFZp686H1431

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-phosphoinositide-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables AMP-activated protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables DNA-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables Rho-dependent protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables eukaryotic translation initiation factor 2alpha kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AS121 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AT120 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AXS139 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2BS14 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2BS36 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S10 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S28 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S57 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T11 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T3 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T45 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H4S1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables magnesium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein kinase activity IDA
    Inferred from Direct Assay
    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
     
    enables protein serine/threonine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein-containing complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ribosomal protein S6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in actomyosin structure organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in actomyosin structure organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytoskeleton organization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in establishment or maintenance of cell polarity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in actomyosin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in actomyosin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell leading edge ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell-cell junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    serine/threonine-protein kinase MRCK beta
    Names
    CDC42 binding protein kinase beta (DMPK-like)
    CDC42BP-beta
    DMPK-like beta
    MRCK beta
    myotonic dystrophy kinase-related CDC42-binding kinase beta
    myotonic dystrophy protein kinase-like beta
    NP_001397983.1
    NP_006026.3
    XP_005268284.1
    XP_005268285.1
    XP_005268287.1
    XP_011535689.1
    XP_047287937.1
    XP_047287938.1
    XP_054233064.1
    XP_054233065.1
    XP_054233066.1
    XP_054233067.1
    XP_054233068.1
    XP_054233069.1

    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.

    mRNA and Protein(s)

    1. NM_001411054.1NP_001397983.1  serine/threonine-protein kinase MRCK beta isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL117209, AL133455
      Consensus CDS
      CCDS91935.1
      UniProtKB/TrEMBL
      H0YLY0
      Related
      ENSP00000453384.2, ENST00000559043.2
    2. NM_006035.4NP_006026.3  serine/threonine-protein kinase MRCK beta isoform 1

      See identical proteins and their annotated locations for NP_006026.3

      Status: REVIEWED

      Source sequence(s)
      AB032950, AF128625, AL117209, AL133455, BC048261
      Consensus CDS
      CCDS9978.1
      UniProtKB/Swiss-Prot
      A9JR72, Q2L7A5, Q86TJ1, Q9ULU5, Q9Y5S2
      Related
      ENSP00000355237.2, ENST00000361246.7
      Conserved Domains (8) summary
      pfam08826
      Location:878939
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:76342
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd00029
      Location:10261075
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd01243
      Location:10851219
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05624
      Location:3411
      STKc_MRCK_beta; Catalytic domain of the Protein Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) beta
      pfam00780
      Location:12451510
      CNH; CNH domain
      pfam13868
      Location:426786
      TPH; Trichohyalin-plectin-homology domain
      pfam15796
      Location:528606
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      102932380..103057549 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268228.2XP_005268285.1  serine/threonine-protein kinase MRCK beta isoform X2

      Conserved Domains (8) summary
      pfam08826
      Location:878939
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:76342
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd00029
      Location:10171066
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd01243
      Location:10761210
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05624
      Location:3411
      STKc_MRCK_beta; Catalytic domain of the Protein Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) beta
      pfam00780
      Location:12361501
      CNH; CNH domain
      pfam13868
      Location:426786
      TPH; Trichohyalin-plectin-homology domain
      pfam15796
      Location:528606
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase
    2. XM_005268227.2XP_005268284.1  serine/threonine-protein kinase MRCK beta isoform X1

      Conserved Domains (8) summary
      pfam08826
      Location:878939
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:76342
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd00029
      Location:10431092
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd01243
      Location:11021236
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05624
      Location:3411
      STKc_MRCK_beta; Catalytic domain of the Protein Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) beta
      pfam00780
      Location:12621527
      CNH; CNH domain
      pfam13868
      Location:426786
      TPH; Trichohyalin-plectin-homology domain
      pfam15796
      Location:528606
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase
    3. XM_047431982.1XP_047287938.1  serine/threonine-protein kinase MRCK beta isoform X6

    4. XM_047431981.1XP_047287937.1  serine/threonine-protein kinase MRCK beta isoform X5

    5. XM_011537387.2XP_011535689.1  serine/threonine-protein kinase MRCK beta isoform X4

      Conserved Domains (8) summary
      pfam08826
      Location:878934
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:76342
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      COG1340
      Location:435709
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00029
      Location:10431092
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd01243
      Location:11021236
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05624
      Location:3411
      STKc_MRCK_beta; Catalytic domain of the Protein Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) beta
      pfam15796
      Location:528606
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase
      cl02434
      Location:12621419
      CNH; CNH domain
    6. XM_005268230.5XP_005268287.1  serine/threonine-protein kinase MRCK beta isoform X3

      Conserved Domains (8) summary
      pfam08826
      Location:878934
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:76342
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      COG1340
      Location:435709
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00029
      Location:10431092
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd01243
      Location:11021236
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05624
      Location:3411
      STKc_MRCK_beta; Catalytic domain of the Protein Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) beta
      pfam00780
      Location:12621486
      CNH; CNH domain
      pfam15796
      Location:528606
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      97168625..97293800 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377090.1XP_054233065.1  serine/threonine-protein kinase MRCK beta isoform X2

    2. XM_054377089.1XP_054233064.1  serine/threonine-protein kinase MRCK beta isoform X1

    3. XM_054377094.1XP_054233069.1  serine/threonine-protein kinase MRCK beta isoform X6

    4. XM_054377093.1XP_054233068.1  serine/threonine-protein kinase MRCK beta isoform X5

    5. XM_054377092.1XP_054233067.1  serine/threonine-protein kinase MRCK beta isoform X4

    6. XM_054377091.1XP_054233066.1  serine/threonine-protein kinase MRCK beta isoform X3