Ibtk inhibitor of Bruton agammaglobulinemia tyrosine kinase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ibtkprovided by MGI
Official Full Name: inhibitor of Bruton agammaglobulinemia tyrosine kinaseprovided by MGI
Primary source: MGI:MGI:1918677
See related: Ensembl:ENSMUSG00000035941 AllianceGenome:MGI:1918677
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: BTKI; mKIAA1417; 5430411K16Rik
Summary: Predicted to enable protein kinase binding activity and protein tyrosine kinase inhibitor activity. Predicted to be involved in release of sequestered calcium ion into cytosol. Predicted to act upstream of or within negative regulation of protein phosphorylation. Predicted to be located in membrane. Predicted to be active in cytoplasm and nucleoplasm. Is expressed in several structures, including central nervous system; early conceptus; and genitourinary system. Orthologous to human IBTK (inhibitor of Bruton tyrosine kinase). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in bladder adult (RPKM 7.6), CNS E11.5 (RPKM 6.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 E3.1; 9 46.34 cM

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (85569412..85632756, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (85687359..85750703, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

IBTK Haploinsufficiency Affects the Tumor Microenvironment of Myc-Driven Lymphoma in E-myc Mice.
Title: IBTK Haploinsufficiency Affects the Tumor Microenvironment of Myc-Driven Lymphoma in E-myc Mice.
Ibtk sustains the oncogenic activity of Myc by inhibiting apoptosis of murine pre-cancerous B cells, as a cell-specific mechanism.
Title: IBTK contributes to B-cell lymphomagenesis in Eμ-myc transgenic mice conferring resistance to apoptosis.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables protein tyrosine kinase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein tyrosine kinase inhibitor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within negative regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in release of sequestered calcium ion into cytosol	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within release of sequestered calcium ion into cytosol	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: inhibitor of Bruton tyrosine kinase

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)

NM_001081282.2 → NP_001074751.1 inhibitor of Bruton tyrosine kinase isoform 1

See identical proteins and their annotated locations for NP_001074751.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer protein (isoform 1).

Source sequence(s)

AK031796, BB639555, BC137798, BP760552

Consensus CDS

CCDS40712.1

UniProtKB/Swiss-Prot

B9EHE9, Q3V3X0, Q6ZPR6, Q8BVL7

Related

ENSMUSP00000041145.9, ENSMUST00000039213.15

Conserved Domains (8) summary

smart00225
Location:770 → 872

BTB; Broad-Complex, Tramtrack and Bric a brac

cd00204
Location:47 → 135

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:872 → 919

SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins

pfam00415
Location:247 → 299

RCC1; Regulator of chromosome condensation (RCC1) repeat

pfam00651
Location:562 → 643

BTB; BTB/POZ domain

pfam12796
Location:25 → 116

Ank_2; Ankyrin repeats (3 copies)

pfam13540
Location:232 → 260

RCC1_2; Regulator of chromosome condensation (RCC1) repeat

sd00045
Location:51 → 82

ANK; ANK repeat [structural motif]
NM_175371.3 → NP_780580.2 inhibitor of Bruton tyrosine kinase isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon and uses an in-frame downstream translation start site, compared to variant 1. It encodes a protein (isoform 2) with a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC155934

Conserved Domains (2) summary

cd14821
Location:312 → 359

SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins

pfam00651
Location:2 → 80

BTB; BTB/POZ domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

85569412..85632756 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006510765.4 → XP_006510828.1 inhibitor of Bruton tyrosine kinase isoform X1

Conserved Domains (7) summary

COG5184
Location:139 → 341

ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

sd00045
Location:51 → 82

ANK; ANK repeat [structural motif]

cd18301
Location:546 → 651

BTB1_POZ_IBtk; first BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in inhibitor of Bruton tyrosine kinase (IBtk)

cd18302
Location:763 → 875

BTB2_POZ_IBtk; second BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in inhibitor of Bruton tyrosine kinase (IBtk)

cd18500
Location:871 → 930

BACK_IBtk; BACK (BTB and C-terminal Kelch) domain found in inhibitor of Bruton tyrosine kinase (IBtk)

pfam00415
Location:247 → 299

RCC1; Regulator of chromosome condensation (RCC1) repeat

pfam12796
Location:45 → 116

Ank_2; Ankyrin repeats (3 copies)