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    SBK1 SH3 domain binding kinase 1 [ Homo sapiens (human) ]

    Gene ID: 388228, updated on 2-May-2024

    Summary

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    Official Symbol
    SBK1provided by HGNC
    Official Full Name
    SH3 domain binding kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:17699
    See related
    Ensembl:ENSG00000188322 MIM:620212; AllianceGenome:HGNC:17699
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SBK
    Summary
    Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in peptidyl-serine phosphorylation and peptidyl-threonine phosphorylation. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in brain (RPKM 3.9), prostate (RPKM 1.1) and 16 other tissues See more
    Orthologs
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    Genomic context

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    See SBK1 in Genome Data Viewer
    Location:
    16p12.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (28258681..28323849)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (28539191..28604353)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (28303846..28335170)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene exportin 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7305 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:28203444-28203616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10639 Neighboring gene RNY1 pseudogene 10 Neighboring gene Sharpr-MPRA regulatory region 6679 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:28222406-28223404 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:28230517-28231018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:28234253-28235103 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 35 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:28271835-28272335 Neighboring gene Sharpr-MPRA regulatory region 11993 Neighboring gene uncharacterized LOC124903670 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:28303338-28303509 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7307 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:28341775-28342274 Neighboring gene MPRA-validated peak2550 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:28347523-28348022 Neighboring gene nuclear pore complex interacting protein family member B6 Neighboring gene microRNA 6862-1 Neighboring gene eukaryotic translation initiation factor 3 subunit C like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Human SBK1 is dysregulated in multiple cancers and promotes survival of ovary cancer SK-OV-3 cells. Wang P, et al. Mol Biol Rep, 2011 Jun. PMID 21104019
    2. Cloning and characterization of a novel serine/threonine protein kinase gene expressed predominantly in developing brain. Nara K, et al. Eur J Biochem, 2001 May. PMID 11322885
    3. Identification of interaction partners for individual SH3 domains of Fas ligand associated members of the PCH protein family in T lymphocytes. Linkermann A, et al. Biochim Biophys Acta, 2009 Feb. PMID 19041431
    4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. Trynka G, et al. Gut, 2009 Aug. PMID 19240061
    5. SR protein kinases promote splicing of nonconsensus introns. Lipp JJ, et al. Nat Struct Mol Biol, 2015 Aug. PMID 26167880

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SH3 domain-binding kinase 1 promotes proliferation and inhibits apoptosis of cervical cancer via activating the Wnt/beta-catenin and Raf/ERK1/2 signaling pathways.
      Title: SH3 domain-binding kinase 1 promotes proliferation and inhibits apoptosis of cervical cancer via activating the Wnt/β-catenin and Raf/ERK1/2 signaling pathways.
    2. Results suggest that the wide-spread expression pattern of human SBK1 may predict a broad cellular function, and its dysregulation in certain cancers suggests an involvement of the protein in the pathogenesis of human cancers.
      Title: Human SBK1 is dysregulated in multiple cancers and promotes survival of ovary cancer SK-OV-3 cells.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    serine/threonine-protein kinase SBK1
    Names
    SH3-binding domain kinase 1
    NP_001019572.1
    XP_005255372.1
    XP_054236286.1

    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.

    mRNA and Protein(s)

    1. NM_001024401.3 → NP_001019572.1  serine/threonine-protein kinase SBK1

      See identical proteins and their annotated locations for NP_001019572.1

      Status: VALIDATED

      Source sequence(s)
      AY874862
      Consensus CDS
      CCDS32416.1
      UniProtKB/Swiss-Prot
      Q52WX2
      UniProtKB/TrEMBL
      A0A590UK17
      Related
      ENSP00000343248.4, ENST00000341901.5
      Conserved Domains (2) summary
      smart00220
      Location:53 → 316
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd13987
      Location:59 → 317
      STKc_SBK1; Catalytic domain of the Serine/Threonine kinase, SH3 Binding Kinase 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      28258681..28323849
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005255315.5 → XP_005255372.1  serine/threonine-protein kinase SBK1 isoform X1

      UniProtKB/TrEMBL
      A0A590UK17
      Related
      ENSP00000499661.3, ENST00000671413.3
      Conserved Domains (2) summary
      smart00220
      Location:87 → 350
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd13987
      Location:93 → 351
      STKc_SBK1; Catalytic domain of the Serine/Threonine kinase, SH3 Binding Kinase 1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      28539191..28604353
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380311.1 → XP_054236286.1  serine/threonine-protein kinase SBK1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q52WX2.1 GenPept UniProtKB/Swiss-Prot:Q52WX2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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