Xirp1 xin actin-binding repeat containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Xirp1provided by MGI
Official Full Name: xin actin-binding repeat containing 1provided by MGI
Primary source: MGI:MGI:1333878
See related: Ensembl:ENSMUSG00000079243 AllianceGenome:MGI:1333878
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: Cmya1
Summary: Predicted to enable actin filament binding activity and filamin binding activity. Acts upstream of or within several processes, including Notch signaling pathway; muscle cell development; and negative regulation of cell population proliferation. Located in adherens junction and fascia adherens. Is expressed in several structures, including heart; musculature; and tail somite. Used to study hypertrophic cardiomyopathy. Orthologous to human XIRP1 (xin actin binding repeat containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in heart adult (RPKM 23.2) and mammary gland adult (RPKM 1.5) See more
Orthologs: human all
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Genomic context

Location:: 9 F4; 9 71.36 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (119842821..119852660, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (120013755..120023598, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Effects of CMYA1 overexpression on cardiac structure and function in mice.
Title: Effects of CMYA1 overexpression on cardiac structure and function in mice.
Xin deficiency leads to a myopathic condition characterized by increased muscle fatigability
Title: Xin-deficient mice display myopathy, impaired contractility, attenuated muscle repair and altered satellite cell functionality.
Aciculin interacts with filamin C and Xin and is essential for myofibril assembly.
Title: Aciculin interacts with filamin C and Xin and is essential for myofibril assembly, remodeling and maintenance.
The results suggest that mXinalpha play a role in myotendinous junction conductance of contractile and stretching forces.
Title: Localization and function of Xinα in mouse skeletal muscle.
mXinalpha controls the dynamics of cortical actin cytoskeleton.
Title: Intercalated disc protein, mXinα, suppresses p120-catenin-induced branching phenotype via its interactions with p120-catenin and cortactin.
Data show that mXinbeta (CMYA3/XIRP2) but not mXinalpha ((CMYA1/XIRP1) was uniquely up-regulated during the redistribution of intercellular junction from the lateral membrane of cardiomyocytes to their termini.
Title: The Xin repeat-containing protein, mXinβ, initiates the maturation of the intercalated discs during postnatal heart development.
Total Xin deficiency leads to topographical intercalated disc alterations, premature fibrosis and subtle changes in contractile behaviour; this is a milder cardiac phenotype than that observed in XinAB(-/-) mice, which still can express XinC
Title: Complete loss of murine Xin results in a mild cardiac phenotype with altered distribution of intercalated discs.
The binding of mXin alpha to beta-catenin at the adherens junction would then facilitate actin binding.
Title: The intercalated disk protein, mXinalpha, is capable of interacting with beta-catenin and bundling actin filaments [corrected].
Xin is expressed within muscle satellite cells during skeletal muscle regeneration and is involved in the regulation of myoblast function.
Title: Xin, an actin binding protein, is expressed within muscle satellite cells and newly regenerated skeletal muscle fibers.
Xin has a role in the formation of cell-cell contacts and possibly in myofibrillogenesis
Title: Localization of the novel Xin protein to the adherens junction complex in cardiac and skeletal muscle during development.

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Variation

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Alleles

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

Targeted (2) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI415219 (e-PCR)
- UniSTS:179995

AF051945 (e-PCR)
- UniSTS:208467

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	ISO Inferred from Sequence Orthology more info
enables filamin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cardiac muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart morphogenesis	ISA Inferred from Sequence Alignment more info	PubMed
acts_upstream_of_or_within negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein binding	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell junction	IEA Inferred from Electronic Annotation more info
located_in fascia adherens	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with focal adhesion	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with focal adhesion	ISO Inferred from Sequence Orthology more info
located_in intercalated disc	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with stress fiber	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with stress fiber	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: xin actin-binding repeat-containing protein 1

Names: Xin alpha; cardiomyopathy associated 1; cardiomyopathy-associated protein 1; mXin alpha

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_001406404.1 → NP_001393333.1 xin actin-binding repeat-containing protein 1

Status: VALIDATED

Source sequence(s)

AC117245, AEKQ02157273

UniProtKB/TrEMBL

E9QQ93
NM_011724.5 → NP_035854.4 xin actin-binding repeat-containing protein 1

Status: VALIDATED

Source sequence(s)

AC117245, AEKQ02157273

Consensus CDS

CCDS52966.1

UniProtKB/Swiss-Prot

O70373

UniProtKB/TrEMBL

E9QQ93

Related

ENSMUSP00000107262.4, ENSMUST00000111635.4

Conserved Domains (1) summary

pfam08043
Location:511 → 526

Xin; Xin repeat

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

119842821..119852660 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030244249.2 → XP_030100109.2 xin actin-binding repeat-containing protein 1 isoform X1

UniProtKB/TrEMBL

A0A571BDS0

Related

ENSMUSP00000158836.3, ENSMUST00000238557.3

Conserved Domains (2) summary

PHA03247
Location:952 → 1469

PHA03247; large tegument protein UL36; Provisional

pfam08043
Location:511 → 526

Xin; Xin repeat
XM_030244248.2 → XP_030100108.2 xin actin-binding repeat-containing protein 1 isoform X1

UniProtKB/TrEMBL

A0A571BDS0

Conserved Domains (2) summary

PHA03247
Location:952 → 1469

PHA03247; large tegument protein UL36; Provisional

pfam08043
Location:511 → 526

Xin; Xin repeat

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001081339.1: Suppressed sequence

Description

NM_001081339.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.