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    IBTK inhibitor of Bruton tyrosine kinase [ Homo sapiens (human) ]

    Gene ID: 25998, updated on 4-Jul-2021

    Summary

    Official Symbol
    IBTKprovided by HGNC
    Official Full Name
    inhibitor of Bruton tyrosine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:17853
    See related
    Ensembl:ENSG00000005700 MIM:606457
    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
    BTKI; BTBD26
    Summary
    Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
    Expression
    Ubiquitous expression in adrenal (RPKM 16.4), thyroid (RPKM 13.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See IBTK in Genome Data Viewer
    Location:
    6q14.1
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (82169987..82247747, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (82879704..82957461, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1526 Neighboring gene long intergenic non-protein coding RNA 2542 Neighboring gene uncharacterized LOC107986617 Neighboring gene RNA, U6 small nuclear 130, pseudogene Neighboring gene single stranded DNA binding protein 2 pseudogene Neighboring gene uncharacterized LOC105377874

    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
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    GeneReviews: Not available

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1417, MGC142256, MGC142258

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein kinase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein tyrosine kinase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    inhibitor of Bruton tyrosine kinase
    Names
    BTK-binding protein
    Bruton agammaglobulinemia tyrosine kinase inhibitor
    inhibitor of Bruton's tyrosine kinase-alpha
    inhibitor of Bruton's tyrosine kinase-beta
    inhibitor of Bruton's tyrosine kinase-gamma

    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_047139.1 RefSeqGene

      Range
      5011..82768
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001300906.2NP_001287835.1  inhibitor of Bruton tyrosine kinase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice acceptor site in the 3' coding region, compared to variant 1. It encodes a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AK123460, BC143745, BM670666, DQ005633
      Consensus CDS
      CCDS75486.1
      UniProtKB/Swiss-Prot
      Q9P2D0
      UniProtKB/TrEMBL
      B7ZLE0, E7EPI0
      Related
      ENSP00000426405.1, ENST00000510291.5
      Conserved Domains (8) summary
      smart00225
      Location:769867
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5184
      Location:227458
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      cd00204
      Location:25135
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14821
      Location:871931
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      pfam00415
      Location:195244
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam00651
      Location:761867
      BTB; BTB/POZ domain
      pfam12796
      Location:25116
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:5182
      ANK; ANK repeat [structural motif]
    2. NM_015525.4NP_056340.2  inhibitor of Bruton tyrosine kinase isoform 1

      See identical proteins and their annotated locations for NP_056340.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BM670666, DQ005633
      Consensus CDS
      CCDS34490.1
      UniProtKB/Swiss-Prot
      Q9P2D0
      Related
      ENSP00000305721.7, ENST00000306270.12
      Conserved Domains (8) summary
      smart00225
      Location:769867
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5184
      Location:227458
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      cd00204
      Location:25135
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14821
      Location:871931
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      pfam00415
      Location:195244
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam00651
      Location:761867
      BTB; BTB/POZ domain
      pfam12796
      Location:25116
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:5182
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      82169987..82247747 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715454.3XP_006715517.1  inhibitor of Bruton tyrosine kinase isoform X2

      Conserved Domains (9) summary
      smart00225
      Location:769867
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5184
      Location:227458
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      cd00204
      Location:25135
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14821
      Location:871931
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      pfam00415
      Location:195244
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam00651
      Location:761867
      BTB; BTB/POZ domain
      pfam12796
      Location:25116
      Ank_2; Ankyrin repeats (3 copies)
      pfam13900
      Location:12331269
      GVQW; Putative domain of unknown function
      sd00045
      Location:5182
      ANK; ANK repeat [structural motif]
    2. XM_006715453.3XP_006715516.1  inhibitor of Bruton tyrosine kinase isoform X1

      Conserved Domains (9) summary
      smart00225
      Location:769867
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5184
      Location:227458
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      cd00204
      Location:25135
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14821
      Location:871931
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      pfam00415
      Location:195244
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam00651
      Location:761867
      BTB; BTB/POZ domain
      pfam12796
      Location:25116
      Ank_2; Ankyrin repeats (3 copies)
      pfam13900
      Location:12481284
      GVQW; Putative domain of unknown function
      sd00045
      Location:5182
      ANK; ANK repeat [structural motif]

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_013171802.1 Reference GRCh38.p13 PATCHES

      Range
      29599..107356 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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