ANKRD1
Ankyrin Repeat Domain 1 (Cardiac Muscle)
Gene Information Card
| Symbol | ANKRD1 |
|---|---|
| Full Name | Ankyrin Repeat Domain 1 (Cardiac Muscle) |
| Gene Type | Protein coding |
| Chromosomal Location | 10q23.31 |
| NCBI Gene ID | 27063 ncbi.nlm.nih.gov/gene/27063 |
| Ensembl ID | ENSG00000148677 |
| UniProt ID | Q15327 |
| OMIM ID | 609599 |
| HGNC ID | 15819 |
| Aliases | CARP, C-193, MCARP, ANKRD1a, ANKRD1b |
Description
ANKRD1 encodes the cardiac ankyrin repeat protein (CARP), a nuclear protein that acts as a transcriptional cofactor involved in muscle development and cardiac gene regulation. It is highly expressed in cardiac and skeletal muscle and plays a role in sarcomere assembly and response to mechanical stress. Mutations in ANKRD1 are associated with dilated cardiomyopathy (DCM) and other cardiac disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated Cardiomyopathy (DCM) | Missense mutations disrupt nuclear localization and transcriptional regulation, impairing cardiac function. | ClinVar, OMIM |
| Hypertrophic Cardiomyopathy (HCM) | Rare variants may alter protein stability and myofibril organization. | ClinVar |
| Cardiac Myxoma | Overexpression of ANKRD1 observed in tumor tissue, possibly contributing to cell proliferation. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 89.2 | High |
| Skeletal Muscle | 62.5 | High |
| Liver | 1.3 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 95.0 | High expression |
| Skeletal muscle myoblasts | 70.3 | High expression |
| HeLa | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Ile280Val | Missense | 0.02% (gnomAD) | Associated with DCM; reduced nuclear localization |
| p.Thr137Met | Missense | 0.01% (gnomAD) | Likely pathogenic; alters protein interaction |
| p.Arg123Trp | Missense | 0.005% (gnomAD) | Reported in HCM; functional impact unclear |
Mutation functional classification
Loss of Function (LOF)
Mutations impairing nuclear translocation or transcriptional activity may lead to loss of function, contributing to DCM.
Gain of Function (GOF)
Not well documented; some variants may increase protein stability but evidence is limited.
Dominant Negative (DN)
Missense mutations may interfere with wild-type protein function in a dominant-negative manner, as suggested by familial DCM studies.
View complete mutation data：
Gene Ontology (GO)
| • nucleus | • transcription coactivator activity |
| • muscle cell differentiation | • cardiac muscle cell development |
| • response to mechanical stimulus |
Pathways
• Cardiac muscle contraction
• TGF-beta signaling pathway
• p53 signaling pathway
Protein Summary
The ANKRD1 protein (CARP) is a 36 kDa nuclear protein containing four ankyrin repeats. It functions as a transcriptional cofactor that modulates gene expression in cardiac and skeletal muscle. CARP interacts with transcription factors such as YB-1 and p53, and is involved in sarcomere assembly, mechanotransduction, and stress response. Its expression is induced by mechanical load and injury.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD1 Knockout HEK293 Cell Line | EDJ-KQ7922 | Human | 27063 | Details Get a Quote |
| ANKRD12 Knockout HEK293 Cell Line | EDJ-KQ7923 | Human | 23253 | Details Get a Quote |
| ANKRD17 Knockout HEK293 Cell Line | EDJ-KQ8375 | Human | 26057 | Details Get a Quote |
| ANKRD13B Knockout HEK293 Cell Line | EDJ-KQ8662 | Human | 124930 | Details Get a Quote |
| ANKRD11 Knockout HEK293 Cell Line | EDJ-KQ9000 | Human | 29123 | Details Get a Quote |
| ANKRD13C Knockout HEK293 Cell Line | EDJ-KQ9721 | Human | 81573 | Details Get a Quote |
| ANKRD13A Knockout HEK293 Cell Line | EDJ-KQ10455 | Human | 88455 | Details Get a Quote |
| ANKRD16 Knockout HEK293 Cell Line | EDJ-KQ11451 | Human | 54522 | Details Get a Quote |
| ANKRD18A Knockout HEK293 Cell Line | EDJ-KQ11740 | Human | 253650 | Details Get a Quote |
| ANKRD10 Knockout HEK293 Cell Line | EDJ-KQ12353 | Human | 55608 | Details Get a Quote |
| ANKRD13D Knockout HEK293 Cell Line | EDJ-KQ12354 | Human | 338692 | Details Get a Quote |
| ANKRD18B Knockout HEK293 Cell Line | EDJ-KQ12356 | Human | 441459 | Details Get a Quote |
| ANKRD11 Knockout A-549 Cell Line | EDJ-KQ34179 | Human | 29123 | Details Get a Quote |
| ANKRD13D Knockout HeLa Cell Line | EDJ-KQ39951 | Human | 338692 | Details Get a Quote |
| ANKRD18A Knockout A-549 Cell Line | EDJ-KQ40111 | Human | 253650 | Details Get a Quote |
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