XIRP1
Xin Actin-Binding Repeat Containing 1
Gene Information Card
| Symbol | XIRP1 |
|---|---|
| Full Name | Xin Actin-Binding Repeat Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p22.1 |
| NCBI Gene ID | 165904 ncbi.nlm.nih.gov/gene/165904 |
| Ensembl ID | ENSG00000185049 |
| UniProt ID | Q702N8 |
| OMIM ID | 610676 |
| HGNC ID | 24473 |
| Aliases | CMYA3, XIN, mXinbeta |
Description
XIRP1 encodes a protein that localizes to the intercalated discs and costameres of cardiac and skeletal muscle. It contains multiple actin-binding repeats and is involved in myofibril organization, cell adhesion, and mechanotransduction. Mutations in XIRP1 are associated with dilated cardiomyopathy and hypertrophic cardiomyopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated Cardiomyopathy | Loss of XIRP1 disrupts intercalated disc integrity and actin cytoskeleton | ClinVar: pathogenic variants reported |
| Hypertrophic Cardiomyopathy | Missense variants may impair actin-binding and sarcomere stability | OMIM: 610676 |
| Cardiomyopathy, familial | Heterozygous truncating variants linked to reduced ejection fraction | NCBI Gene: 165904 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 42.3 | High |
| Skeletal Muscle | 28.1 | High |
| Esophagus | 3.2 | Low |
| Adipose Tissue | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 55.0 | High expression |
| Skeletal muscle myotubes | 30.2 | High expression |
| HeLa | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss-of-function; associated with dilated cardiomyopathy |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Premature stop; reduced protein expression |
| c.890A>G (p.Gln297Arg) | Missense | <0.01% | Uncertain significance; may affect actin binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay; associated with dilated cardiomyopathy.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • cell adhesion |
| • striated muscle cell development | • Z disc |
| • intercalated disc | • costamere |
Pathways
• Cardiac muscle contraction
• Striated muscle contraction
• Cell adhesion molecules (CAMs)
Protein Summary
XIRP1 is a 1,625-amino acid protein with 16 actin-binding repeats. It localizes to the intercalated disc and costamere in cardiac muscle, where it crosslinks actin filaments and stabilizes cell-cell junctions. It is essential for maintaining sarcomere integrity and mechanotransduction in striated muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| XIRP1 Knockout HEK293 Cell Line | EDJ-KQ15375 | Human | 165904 | Details Get a Quote |
| XIRP1 Knockout HeLa Cell Line | EDJ-KQ58893 | Human | 165904 | Details Get a Quote |
| XIRP1 Knockout A-549 Cell Line | EDJ-KQ67383 | Human | 165904 | Details Get a Quote |
| XIRP1 Knockout HCT 116 Cell Line | EDJ-KQ75775 | Human | 165904 | Details Get a Quote |
