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XIRP1 xin actin binding repeat containing 1 [ Homo sapiens (human) ]

Gene ID: 165904, updated on 5-Mar-2024

Summary

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Official Symbol
XIRP1provided by HGNC
Official Full Name
xin actin binding repeat containing 1provided by HGNC
Primary source
HGNC:HGNC:14301
See related
Ensembl:ENSG00000168334 MIM:609777; AllianceGenome:HGNC:14301
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
Xin; CMYA1
Summary
The protein encoded by this gene is a striated muscle protein and belongs to the Xin actin-binding repeat-containing protein (XIRP) family. The protein functions to protect actin filaments during depolymerization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]
Expression
Restricted expression toward heart (RPKM 52.8) See more
Orthologs
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Genomic context

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See XIRP1 in Genome Data Viewer
Location:
3p22.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (39183215..39192595, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (39196207..39205587, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (39224706..39234086, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene cysteine and serine rich nuclear protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:39194268-39195127 Neighboring gene uncharacterized LOC101928263 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:39195907-39196406 Neighboring gene Sharpr-MPRA regulatory region 1375 Neighboring gene uncharacterized LOC105377035 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:39232857-39233846 Neighboring gene uncharacterized LOC124909366 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:39251989-39252657 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:39252658-39253325 Neighboring gene DSTN pseudogene 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Cardiomyopathy-Associated Gene 1-Sensitive PKC-Dependent Connexin 43 Expression and Phosphorylation in Left Ventricular Noncompaction Cardiomyopathy. Xie Y, et al. Cell Physiol Biochem, 2017. PMID 29176328
  2. Xin is a marker of skeletal muscle damage severity in myopathies. Nilsson MI, et al. Am J Pathol, 2013 Dec. PMID 24225086
  3. A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients. Kley RA, et al. Mol Cell Proteomics, 2013 Jan. PMID 23115302, Free PMC Article
  4. Multiple tumor-suppressor genes on chromosome 3p contribute to head and neck squamous cell carcinoma tumorigenesis. Lee DJ, et al. Cancer Biol Ther, 2010 Oct 1. PMID 20657180, Free PMC Article
  5. Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. Claeys KG, et al. Acta Neuropathol, 2009 Mar. PMID 19151983

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs.
    Title: An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs.
  2. Report pathogenic XIRP1/2 rare variants in arrhythmogenic disorders such as sudden unexplained nocturnal death syndrome and Brugada syndrome.
    Title: Critical Roles of Xirp Proteins in Cardiac Conduction and Their Rare Variants Identified in Sudden Unexplained Nocturnal Death Syndrome and Brugada Syndrome in Chinese Han Population.
  3. Abnormal CMYA1 expression affects the phosphorylation of Cx43 through the protein kinase c signaling pathway, which is involved in the regulation of gap junction intercellular communication.
    Title: Cardiomyopathy-Associated Gene 1-Sensitive PKC-Dependent Connexin 43 Expression and Phosphorylation in Left Ventricular Noncompaction Cardiomyopathy.
  4. 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.
  5. The strong correlation between the degree of muscle damage and Xin immunoreactivity suggests that Xin may be a suitable outcome measure to evaluate disease progression and treatment effects in clinical trials.
    Title: Xin is a marker of skeletal muscle damage severity in myopathies.
  6. We identify the SH3 domains of nebulin and nebulette as novel ligands of proline-rich regions of Xin and XIRP2.
    Title: Identification of Xin-repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling.
  7. Data provide further support that ALS2CL, EPHA3, and CMYA1 are bona-fide tumor-suppressor genes and contribute to the tumorigenesis of HNSCC.
    Title: Multiple tumor-suppressor genes on chromosome 3p contribute to head and neck squamous cell carcinoma tumorigenesis.
  8. Data show that in myofibrillar myopathies Xin protein exhibites significant alterations in their localization.
    Title: Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.
  9. Here, we identify Xin, the protein encoded by the human gene 'cardiomyopathy associated 1'(CMYA1) as filamin c binding partner at these specialized structures where the ends of myofibrils are attached to the sarcolemma
    Title: Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP.
  10. Xin and XIRP2 define a novel actin-binding motif
    Title: Xin repeats define a novel actin-binding motif.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif upregulates the expression of xin actin-binding repeat containing 1 (XIRP1) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp451D042, DKFZp779C1255, DKFZp779C1947

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables actin filament binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in actin filament organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of protein binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
colocalizes_with focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
colocalizes_with focal adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
colocalizes_with stress fiber IBA
Inferred from Biological aspect of Ancestor
more info
  
colocalizes_with stress fiber IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
xin actin-binding repeat-containing protein 1
Names
cardiomyopathy associated 1
cardiomyopathy-associated protein 1

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.

Genomic

  1. NG_054927.1 RefSeqGene

    Range
    5026..14406
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001198621.4 → NP_001185550.1  xin actin-binding repeat-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001185550.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate internal segment compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC092053
    Consensus CDS
    CCDS56245.1
    UniProtKB/Swiss-Prot
    Q702N8
    Related
    ENSP00000379550.1, ENST00000396251.1
    Conserved Domains (1) summary
    pfam08043
    Location:508 → 521
    Xin; Xin repeat

  2. NM_001351377.2 → NP_001338306.1  xin actin-binding repeat-containing protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC092053
    Consensus CDS
    CCDS87065.1
    UniProtKB/TrEMBL
    B3KV77
    Related
    ENSP00000391645.1, ENST00000421646.1
    Conserved Domains (1) summary
    cl26247
    Location:14 → 168
    DNA_pol3_delta2; DNA polymerase III, delta subunit

  3. NM_194293.4 → NP_919269.2  xin actin-binding repeat-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_919269.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC092053
    Consensus CDS
    CCDS2683.1
    UniProtKB/Swiss-Prot
    A0JP25, A4QPE2, Q68DF2, Q6ZTR3, Q702N8, Q702N9, Q8IVN7, Q8N1N3, Q8N904, Q8TCG7
    Related
    ENSP00000343140.3, ENST00000340369.4
    Conserved Domains (1) summary
    pfam08043
    Location:508 → 521
    Xin; Xin repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    39183215..39192595 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047447588.1 → XP_047303544.1  xin actin-binding repeat-containing protein 1 isoform X2

  2. XM_005264909.4 → XP_005264966.1  xin actin-binding repeat-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005264966.1

    UniProtKB/Swiss-Prot
    A0JP25, A4QPE2, Q68DF2, Q6ZTR3, Q702N8, Q702N9, Q8IVN7, Q8N1N3, Q8N904, Q8TCG7
    Conserved Domains (1) summary
    pfam08043
    Location:508 → 521
    Xin; Xin repeat

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    39196207..39205587 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345487.1 → XP_054201462.1  xin actin-binding repeat-containing protein 1 isoform X2

  2. XM_054345486.1 → XP_054201461.1  xin actin-binding repeat-containing protein 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q702N8.1 GenPept UniProtKB/Swiss-Prot:Q702N8

Gene LinkOut

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