Itgb1bp2 integrin beta 1 binding protein 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Itgb1bp2provided by MGI
Official Full Name: integrin beta 1 binding protein 2provided by MGI
Primary source: MGI:MGI:1353420
See related: Ensembl:ENSMUSG00000031312 AllianceGenome:MGI:1353420
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: Chordc3
Summary: Enables calcium ion binding activity and zinc ion binding activity. Predicted to be involved in centrosome duplication. Located in Z disc. Is expressed in several structures, including diaphragm; limb mesenchyme; skeletal musculature; tarsus rest of mesenchyme; and tongue. Orthologous to human ITGB1BP2 (integrin subunit beta 1 binding protein 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in heart adult (RPKM 82.6), limb E14.5 (RPKM 19.3) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: X D; X 44.17 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (100492694..100520391)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (101449088..101466122)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Modulation of LTCC Pathways by a Melusin Mimetic Increases Ventricular Contractility During LPS-Induced Cardiomyopathy.
Title: Modulation of LTCC Pathways by a Melusin Mimetic Increases Ventricular Contractility During LPS-Induced Cardiomyopathy.
Findings implicate melusin as an enhancer of AKT and ERK pathways and as a novel player in cardioprotection from ischemia-reperfusion injury.
Title: Overexpression of the muscle-specific protein, melusin, protects from cardiac ischemia/reperfusion injury.
reduces maladaptive remodelling after myocardial infarction
Title: Melusin protects from cardiac rupture and improves functional remodelling after myocardial infarction.
Multiple hypertrophic stimuli regulate melusin expression predominately in the atria, which may represent a necessary initial step in early adaptive remodelling processes in left ventricular hypertrophy.
Title: Regulation of cardiac melusin gene expression by hypertrophic stimuli in the rat.
Chp-1 and melusin can interact with cochaperones PP5 and Sgt1 and with each other in an ATP-dependent manner
Title: Dynamic nucleotide-dependent interactions of cysteine- and histidine-rich domain (CHORD)-containing Hsp90 cochaperones Chp-1 and melusin with cochaperones PP5 and Sgt1.
controls ERK1/2 activation in heart
Title: ERK1/2 activation in heart is controlled by melusin, focal adhesion kinase and the scaffold protein IQGAP1.
PI3K regulates the expression of genes essential for cardiac structure and Z-disc signaling, interacts with melusin, and is critical for Z-disc alignment
Title: Phosphoinositide 3-kinase (PI3K(p110alpha)) directly regulates key components of the Z-disc and cardiac structure.
Melusin directly binds to Hsp90, a ubiquitous chaperone involved in regulating several signaling pathways.
Title: The mammalian CHORD-containing protein melusin is a stress response protein interacting with Hsp90 and Sgt1.
Data show that melusin prevents cardiac dilation during chronic pressure overload by specifically sensing mechanical stress.
Title: Melusin, a muscle-specific integrin beta1-interacting protein, is required to prevent cardiac failure in response to chronic pressure overload.

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Variation

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Alleles

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

Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125643 (e-PCR)
- UniSTS:162431

Itgb1bp2 (e-PCR), detects polymorphism
- UniSTS:515315

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables integrin binding	IEA Inferred from Electronic Annotation more info
enables integrin binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in centrosome duplication	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: integrin beta-1-binding protein 2

Names: melusin

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_001426134.1 → NP_001413063.1 integrin beta-1-binding protein 2 isoform 2

Status: VALIDATED

Source sequence(s)

AL831722
NM_001426135.1 → NP_001413064.1 integrin beta-1-binding protein 2 isoform 3

Status: VALIDATED

Source sequence(s)

AL831722
NM_013712.3 → NP_038740.1 integrin beta-1-binding protein 2 isoform 1

See identical proteins and their annotated locations for NP_038740.1

Status: VALIDATED

Source sequence(s)

AL831722

Consensus CDS

CCDS41079.1

UniProtKB/Swiss-Prot

Q9D161, Q9R000

Related

ENSMUSP00000033674.6, ENSMUST00000033674.6

Conserved Domains (2) summary

cd06488
Location:219 → 305

p23_melusin_like; p23_like domain similar to the C-terminal (tail) domain of vertebrate Melusin and related proteins. Melusin's tail domain interacts with the cytoplasmic domain of beta1-A and beta1-D isoforms of beta1 integrin, it does not bind other integrin beta ...

pfam04968
Location:3 → 64

CHORD; CHORD

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_000086.8 Reference GRCm39 C57BL/6J

Range

100492694..100520391

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030251354.2 → XP_030107214.1 integrin beta-1-binding protein 2 isoform X1

Conserved Domains (2) summary

pfam04968
Location:3 → 64

CHORD

cl00175
Location:219 → 252

alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.
XM_030251355.2 → XP_030107215.1 integrin beta-1-binding protein 2 isoform X2

Conserved Domains (2) summary

pfam04968
Location:3 → 64

CHORD

cl00175
Location:219 → 252

alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.