CARMIL1 Gene

Name capping protein regulator and myosin 1 linker 1
Description Involved in several processes, including actin filament network formation; plasma membrane bounded cell projection organization; and positive regulation of cellular component organization. Located in several cellular components, including lamellipodium; macropinosome; and nuclear speck. [provided by Alliance of Genome Resources, Mar 2025]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CARMIL1 is a multidomain, membrane‐associated regulator of actin dynamics that functions primarily by binding to and antagonizing the barbed‐end capping protein (CP). Studies in mouse cells have shown that CARMIL1 reduces the affinity of CP for actin filaments, thereby promoting filament elongation in structures such as lamellipodia and macropinosomes, where efficient actin assembly underlies protrusion and membrane ruffling."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In migrating cells, CARMIL1 localizes to lamellipodia and its activity is essential for maintaining a robust F‐actin network, which in turn supports lamellipodial extension and macropinocytosis. This regulation is partly mediated by its association with the Rac1 activator Trio, linking cytoskeletal remodeling to signaling pathways that control cell motility."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Furthermore, biochemical dissection has revealed that the C-terminal CAH3 domain of CARMIL1 can uncap CP-capped actin filaments, thereby rapidly restoring polymerization and fine-tuning the dynamics of actin assembly."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Genetic studies using point mutants of CARMIL1 underscore that its interaction with CP is critical for the formation of lamellipodia, ruffle, and macropinocytosis while other functions such as membrane localization and Rac1 activation are less dependent on CP binding."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " In addition to its central role in actin regulation, the leucine‐rich repeat region of CARMIL1 has been implicated in inflammatory signaling by mediating interactions with interleukin‐1 receptor components and associated kinases, which results in modulation of ERK activation and matrix metalloproteinase expression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Collectively, these findings establish CARMIL1 as a pivotal integrator of cytoskeletal dynamics and signaling pathways that govern cell morphology, migration, and inflammatory responses.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Changsong Yang, Martin Pring, Martin A Wear, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mammalian CARMIL inhibits actin filament capping by capping protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Cell (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.devcel.2005.06.008"}], "href": "https://doi.org/10.1016/j.devcel.2005.06.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16054028"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16054028"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yun Liang, Hanspeter Niederstrasser, Marc Edwards, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Distinct roles for CARMIL isoforms in cell migration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.e08-10-1071"}], "href": "https://doi.org/10.1091/mbc.e08-10-1071"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19846667"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19846667"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Ikuko Fujiwara, Kirsten Remmert, John A Hammer "}, {"type": "b", "children": [{"type": "t", "text": "Direct observation of the uncapping of capping protein-capped actin filaments by CARMIL homology domain 3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M109.031203"}], "href": "https://doi.org/10.1074/jbc.M109.031203"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19926785"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19926785"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Marc Edwards, Yun Liang, Taekyung Kim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Physiological role of the interaction between CARMIL1 and capping protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.E13-05-0270"}], "href": "https://doi.org/10.1091/mbc.E13-05-0270"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23904264"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23904264"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Qin Wang, Karambir Notay, Gregory P Downey, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Leucine-Rich Repeat Region of CARMIL1 Regulates IL-1-Mediated ERK Activation, MMP Expression, and Collagen Degradation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2020.107781"}], "href": "https://doi.org/10.1016/j.celrep.2020.107781"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32610117"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32610117"}]}]}]}
NCBI Gene ID 55604
API
Download Associations
Predicted Functions View CARMIL1's ARCHS4 Predicted Functions.
Co-expressed Genes View CARMIL1's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View CARMIL1's ARCHS4 Predicted Functions.

Functional Associations

CARMIL1 has 3,985 functional associations with biological entities spanning 6 categories (chemical, functional term, phrase or reference, disease, phenotype or trait, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 42 datasets.

Click the + buttons to view associations for CARMIL1 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of CARMIL1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
Carcinogenome Chemical Perturbation Carcinogenicity Signatures small molecule perturbations changing expression of CARMIL1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
CCLE Cell Line Proteomics Cell lines associated with CARMIL1 protein from the CCLE Cell Line Proteomics dataset.
CellMarker Gene-Cell Type Associations cell types associated with CARMIL1 gene from the CellMarker Gene-Cell Type Associations dataset.
ChEA Transcription Factor Targets 2022 transcription factors binding the promoter of CARMIL1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
CM4AI U2OS Cell Map Protein Localization Assemblies assemblies containing CARMIL1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing CARMIL1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 cellular components containing CARMIL1 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 2025 cellular components co-occuring with CARMIL1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
DepMap CRISPR Gene Dependency cell lines with fitness changed by CARMIL1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with CARMIL1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with CARMIL1 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 CARMIL1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
DisGeNET Gene-Phenotype Associations phenotypes associated with CARMIL1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
GO Biological Process Annotations 2023 biological processes involving CARMIL1 gene from the curated GO Biological Process Annotations 2023 dataset.
GO Biological Process Annotations 2025 biological processes involving CARMIL1 gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2023 cellular components containing CARMIL1 protein from the curated GO Cellular Component Annotations 2023 dataset.
GO Cellular Component Annotations 2025 cellular components containing CARMIL1 protein from the curated GO Cellular Component Annotations 2025 dataset.
GTEx eQTL 2025 SNPs regulating expression of CARMIL1 gene from the GTEx eQTL 2025 dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of CARMIL1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GTEx Tissue-Specific Aging Signatures tissue samples with high or low expression of CARMIL1 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with CARMIL1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
HuBMAP Azimuth Cell Type Annotations cell types associated with CARMIL1 gene from the HuBMAP Azimuth Cell Type Annotations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of CARMIL1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Mouse Transcription Factor Targets 2025 transcription factors regulating expression of CARMIL1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures small molecule perturbations changing expression of CARMIL1 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset.
LINCS L1000 CMAP CRISPR Knockout Consensus Signatures gene perturbations changing expression of CARMIL1 gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.
MGI Mouse Phenotype Associations 2023 phenotypes of transgenic mice caused by CARMIL1 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset.
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles drug perturbations changing expression of CARMIL1 gene from the NIBR DRUG-seq U2OS MoA Box dataset.
PFOCR Pathway Figure Associations 2024 pathways involving CARMIL1 protein from the Wikipathways PFOCR 2024 dataset.
Reactome Pathways 2024 pathways involving CARMIL1 protein from the Reactome Pathways 2024 dataset.
Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures gene perturbations changing expression of CARMIL1 gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset.
Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures gene perturbations changing expression of CARMIL1 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset.
Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures gene perturbations changing expression of CARMIL1 gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of CARMIL1 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of CARMIL1 gene from the RummaGEO Gene Perturbation Signatures dataset.
Sanger Dependency Map Cancer Cell Line Proteomics cell lines associated with CARMIL1 protein from the Sanger Dependency Map Cancer Cell Line Proteomics dataset.
Sci-Plex Drug Perturbation Signatures drug perturbations changing expression of CARMIL1 gene from the Sci-Plex Drug Perturbation Signatures dataset.
Tahoe Therapeutics Tahoe 100M Perturbation Atlas drug perturbations changing expression of CARMIL1 gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of CARMIL1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 tissues with high expression of CARMIL1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with CARMIL1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.