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

Gene ID: 22437, updated on 21-Apr-2024

Summary

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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

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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_000075.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:119887435-119887544 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:119888013-119888122 Neighboring gene cysteine-serine-rich nuclear protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E6811 Neighboring gene STARR-positive B cell enhancer ABC_E2922 Neighboring gene STARR-positive B cell enhancer ABC_E3866 Neighboring gene predicted gene, 33800 Neighboring gene STARR-seq mESC enhancer starr_25485 Neighboring gene STARR-seq mESC enhancer starr_25486 Neighboring gene STARR-positive B cell enhancer ABC_E9780 Neighboring gene C-X3-C motif chemokine receptor 1 Neighboring gene predicted gene, 33858 Neighboring gene C-C motif chemokine receptor 8

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Effects of CMYA1 overexpression on cardiac structure and function in mice. Li C, et al. Acta Biochim Biophys Sin (Shanghai), 2021 Apr 15. PMID 33792654, Free PMC Article
  2. Sarcomeric lesions and remodeling proximal to intercalated disks in overload-induced cardiac hypertrophy. Kebir S, et al. Exp Cell Res, 2016 Oct 15. PMID 27639425
  3. Xin-deficient mice display myopathy, impaired contractility, attenuated muscle repair and altered satellite cell functionality. Al-Sajee D, et al. Acta Physiol (Oxf), 2015 Jun. PMID 25582411
  4. Localization and function of Xinα in mouse skeletal muscle. Feng HZ, et al. Am J Physiol Cell Physiol, 2013 May 15. PMID 23485711, Free PMC Article
  5. The Xin repeat-containing protein, mXinβ, initiates the maturation of the intercalated discs during postnatal heart development. Wang Q, et al. Dev Biol, 2013 Feb 15. PMID 23261932, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Effects of CMYA1 overexpression on cardiac structure and function in mice.
    Title: Effects of CMYA1 overexpression on cardiac structure and function in mice.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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].
  9. 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.
  10. 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.
Submit: New GeneRIF Correction

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

Homology

Clone Names

  • MGC144145, MGC144146

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)

  1. NM_001406404.1 → NP_001393333.1  xin actin-binding repeat-containing protein 1

    Status: VALIDATED

    Source sequence(s)
    AC117245, AEKQ02157273
    UniProtKB/TrEMBL
    E9QQ93

  2. 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

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    119842821..119852660 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  1. 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.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O70373.2 GenPept UniProtKB/Swiss-Prot:O70373

Gene LinkOut

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