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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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XIRP1
xin actin binding repeat containing 1
Chromosome 3 · 3p22.2
NCBI Gene: 165904Ensembl: ENSG00000168334.10HGNC: HGNC:14301UniProt: Q702N8
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
stress fiberRNA bindingnegative regulation of protein bindingnucleoplasmresponse to stimulusFollicular Cysthypertensionleft ventricular noncompaction
✦AI Summary

XIRP1 is an actin-binding protein essential for maintaining cardiac and skeletal muscle integrity. Its primary function is protecting actin filaments from depolymerization 1 and serving as a scaffolding protein at intercalated discs and myotendinous junctions. In cardiac tissue, XIRP1 localizes to intercalated discs where it interacts with POPDC1/2 and regulates cell-cell adhesion stability, maintaining normal cardiac morphology, electrical conductance, and heart rhythm 2. XIRP1 also acts as a 1,25D-modulated vitamin D receptor interacting protein that influences VDR-mediated transcription in a cell-specific manner 3. In skeletal muscle, XIRP1 regulates satellite cell activation and survival, promoting muscle fiber recovery from injury and fatigue. Deletion or mutation of XIRP1 causes late-onset cardiomyopathy with conduction defects 4. Genetic variants in XIRP1 are associated with sudden unexplained nocturnal death syndrome and Brugada syndrome 5, highlighting its critical role in cardiac electrical function. Additionally, XIRP1 expression is suppressed in glioblastoma through hypoxia-induced circRNA mechanisms, with lower XIRP1 levels correlating with higher tumor grade and worse prognosis 6. Novel associations link XIRP1 variants to adiponectin regulation in South Asian populations 7.

Sources cited
1
XIRP1 protects actin filaments from depolymerization
PMID: 15454575
2
XIRP1 interacts with POPDC1/2 at intercalated discs and T-tubules; mutations in XIRP1 cause pathological cardiac arrhythmias
PMID: 33261556
3
XIRP1 is a vitamin D receptor interacting protein that modulates 1,25D-mediated transcription in cardiac tissue
PMID: 22626544
4
XIRP1 deletion leads to late-onset cardiomyopathy with conduction defects; acts as scaffolding protein at intercalated discs
PMID: 24725425
5
XIRP rare variants are identified in sudden unexplained nocturnal death syndrome and Brugada syndrome
PMID: 29306897
6
XIRP1 expression is suppressed in glioblastoma through circPLOD2-mediated mechanisms; lower XIRP1 associates with higher glioma grade and worse prognosis
PMID: 39820362
7
XIRP1 variants show novel associations with adiponectin levels in South Asian populations
PMID: 40187068
8
XIRP1 is identified as a disease gene in neurogenetic disorders through whole-exome sequencing
PMID: 25558065
Disease Associationsⓘ20
Follicular CystOpen Targets
0.30Weak
response to stimulusOpen Targets
0.30Weak
hypertensionOpen Targets
0.24Weak
left ventricular noncompactionOpen Targets
0.09Suggestive
hypertrophic cardiomyopathyOpen Targets
0.08Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.08Suggestive
dilated cardiomyopathyOpen Targets
0.08Suggestive
dilated cardiomyopathy 1AAOpen Targets
0.07Suggestive
Romano-Ward syndromeOpen Targets
0.07Suggestive
Atrial stand stillOpen Targets
0.07Suggestive
left ventricular noncompaction 10Open Targets
0.07Suggestive
fatal infantile encephalocardiomyopathyOpen Targets
0.07Suggestive
Glycogen storage disease due to glycogenin deficiencyOpen Targets
0.06Suggestive
glycogen storage disease XVOpen Targets
0.06Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.06Suggestive
dilated cardiomyopathy 1CCOpen Targets
0.06Suggestive
dilated cardiomyopathy 1WOpen Targets
0.06Suggestive
sick sinus syndrome 2, autosomal dominantOpen Targets
0.06Suggestive
dilated cardiomyopathy 1MOpen Targets
0.06Suggestive
dilated cardiomyopathy 2AOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FLNCProtein interaction84%CAPN7Protein interaction84%OXNAD1Protein interaction84%ACTN2Protein interaction78%CSRP3Protein interaction74%CAPZA3Shared pathway40%
Tissue Expression6 tissues
Heart
100%
Lung
0%
Brain
0%
Liver
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
XIRP1FLNCCAPN7OXNAD1ACTN2CSRP3CAPZA3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q702N8
View on AlphaFold ↗
RankingsWhere XIRP1 stands among ~20K protein-coding genes
  • #12,481of 20,598
    Most Researched28
Genes detectedXIRP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
PMID: 25558065
Cell Rep · 2015
1.00
2
Hypoxia-induced circPLOD2a/b promotes the aggressiveness of glioblastoma by suppressing XIRP1 through binding to HuR.
PMID: 39820362
Commun Biol · 2025
0.90
3
An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs.
PMID: 33261556
BMC Mol Cell Biol · 2020
0.80
4
Novel genetic associations with childhood adipocytokines in Indian adolescents.
PMID: 40187068
Cytokine · 2025
0.70
5
Potential biomarkers of skeletal muscle damage.
PMID: 24712427
Biomark Med · 2014
0.60