ANKRD1 Gene

HGNC Family	Ankyrin repeat domain containing (ANKRD)
Name	ankyrin repeat domain 1 (cardiac muscle)
Description	The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ANKRD1, which encodes the cardiac ankyrin repeat protein (CARP), plays a central role in integrating mechanical signals with transcriptional responses in striated muscle and other cells. In the heart, CARP localizes to the sarcomeric Z‐disc as part of the titin–N2A mechanosensory complex, where it interacts with key structural proteins such as titin and myopalladin. Mutations in ANKRD1 have been implicated in cardiomyopathies – both hypertrophic and dilated – with several studies demonstrating that missense mutations increase CARP binding to its partners and alter stretch‐mediated signaling, likely contributing to adverse cardiac remodeling and contractile dysfunction."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, dysregulation of ANKRD1 expression has emerged as a mechanism in disease contexts beyond cardiomyopathy. For instance, in pancreatic cancer, epigenetic suppression of ANKRD1 by overexpressed long noncoding RNAs contributes to tumor proliferation and metastasis by altering YAP/TAZ signaling pathways."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Moreover, in skeletal muscle, indirect regulation of ANKRD1 has been linked to the atrophied phenotype in disuse conditions, suggesting a broader role for CARP in mechanotransduction and the control of muscle gene expression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Finally, disturbed hemodynamic forces in vascular endothelial cells induce upregulation of ANKRD1 via YAP/TAZ-dependent mechanisms, further highlighting its significance as a mechanoresponsive gene."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these studies indicate that ANKRD1/CARP is essential for maintaining normal muscle structure and function by mediating responses to mechanical and cytoskeletal cues. Disruption of its normal expression or function—as through mutations that enhance its binding to sarcomeric partners or via epigenetic downregulation—can contribute to pathological remodeling in the heart, skeletal muscle atrophy, and even cancer progression.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Takuro Arimura, J Martijn Bos, Akinori Sato, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Am Coll Cardiol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jacc.2008.12.082"}], "href": "https://doi.org/10.1016/j.jacc.2008.12.082"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19608031"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19608031"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Mousumi Moulik, Matteo Vatta, Stephanie H Witt, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Am Coll Cardiol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jacc.2009.02.076"}], "href": "https://doi.org/10.1016/j.jacc.2009.02.076"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19608030"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19608030"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Laëtitia Duboscq-Bidot, Philippe Charron, Volker Ruppert, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur Heart J (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/eurheartj/ehp225"}], "href": "https://doi.org/10.1093/eurheartj/ehp225"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19525294"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19525294"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Bingqing Hui, Hao Ji, Yetao Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "RREB1-induced upregulation of the lncRNA AGAP2-AS1 regulates the proliferation and migration of pancreatic cancer partly through suppressing ANKRD1 and ANGPTL4."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Death Dis (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41419-019-1384-9"}], "href": "https://doi.org/10.1038/s41419-019-1384-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30814490"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30814490"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Chia-Ling Wu, Susan C Kandarian, Robert W Jackman "}, {"type": "b", "children": [{"type": "t", "text": "Identification of genes that elicit disuse muscle atrophy via the transcription factors p50 and Bcl-3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0016171"}], "href": "https://doi.org/10.1371/journal.pone.0016171"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21249144"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21249144"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Kuei-Chun Wang, Yi-Ting Yeh, Phu Nguyen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Flow-dependent YAP/TAZ activities regulate endothelial phenotypes and atherosclerosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1613121113"}], "href": "https://doi.org/10.1073/pnas.1613121113"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27671657"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27671657"}]}]}]}
Synonyms	C-193, MCARP, ALRP, BA320F15.2, CVARP
Proteins	ANKR1_HUMAN
NCBI Gene ID	27063
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ANKRD1 has 6,960 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 112 datasets.

Click the + buttons to view associations for ANKRD1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ANKRD1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of ANKRD1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of ANKRD1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ANKRD1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ANKRD1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ANKRD1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ANKRD1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of ANKRD1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ANKRD1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ANKRD1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ANKRD1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ANKRD1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ANKRD1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ANKRD1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with ANKRD1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ANKRD1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ANKRD1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ANKRD1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing ANKRD1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ANKRD1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ANKRD1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ANKRD1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ANKRD1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ANKRD1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ANKRD1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ANKRD1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving ANKRD1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ANKRD1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ANKRD1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ANKRD1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with ANKRD1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ANKRD1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at ANKRD1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ANKRD1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ANKRD1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing ANKRD1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with ANKRD1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of ANKRD1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with ANKRD1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing ANKRD1 from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of ANKRD1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.