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

Gene ID: 25998, updated on 1-Jun-2020

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

Genomic context

See IBTK in Genome Data Viewer
Location:
6q14.1
Exon count:
30
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (82169987..82247747, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (82879956..82957448, 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

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
NHGRI GWA Catalog

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
protein kinase binding IDA
Inferred from Direct Assay
more info
PubMed 
protein tyrosine kinase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 
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)

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.

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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