MYL11 Gene

Name myosin light chain 11
Description Predicted to enable calcium ion binding activity. Predicted to be a structural constituent of muscle. Involved in muscle contraction. Located in lysosomal membrane. Implicated in distal arthrogryposis type 1C. [provided by Alliance of Genome Resources, Mar 2025]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRecent studies have expanded our understanding of the interplay between cytoskeletal regulators and cell–cell junction proteins. Although many of the provided abstracts focus on the scaffolding protein cingulin—which orchestrates tight junction organization, modulates actin‐ and microtubule‐cytoskeletal networks, and influences epithelial barrier function and tissue morphogenesis (e.g."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "8"}]}, {"type": "t", "text": ", they also underscore the broader significance of actomyosin regulation in tissue development."}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn parallel and in contrast to cingulin’s role in junctional assembly, investigations into fast skeletal muscle myosin regulatory light chains—highly related to the gene products of MYL family members—have revealed critical functions in muscle contractility and structural integrity. Notably, studies examining individuals with distal arthrogryposis have identified rare variants in the fast skeletal muscle myosin light chain (MYLPF) that disrupt residues key for its interaction with the myosin heavy chain, thereby impairing myosin activity and causing segmental muscle degeneration and congenital contractures."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": " Complementing this, the cloning and characterization of a human fast skeletal myosin regulatory light chain (HSRLC) highlighted conserved domains—including a calcium‐binding region and a series of phosphorylatable serine residues—that are essential for the modulation of actomyosin interactions."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nCollectively, the findings signal that while proper junctional organization via proteins such as cingulin is indispensable for epithelial integrity and barrier function, the regulatory light chains of myosin (as exemplified by studies on MYLPF/HSRLC) are fundamental for generating contractile force and preserving muscle architecture. Disruption of these key regulatory regions may lead to compromised myosin interactions that underlie clinical conditions such as distal arthrogryposis. This integrated perspective emphasizes that tight regulation of both cell–cell adhesion and actomyosin contractility is crucial for normal tissue development and function.\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Laurent Guillemot, Eva Hammar, Christian Kaister, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Disruption of the cingulin gene does not prevent tight junction formation but alters gene expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.01399"}], "href": "https://doi.org/10.1242/jcs.01399"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15454572"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15454572"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Laurent Guillemot, Yann Schneider, Paola Brun, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cingulin is dispensable for epithelial barrier function and tight junction structure, and plays a role in the control of claudin-2 expression and response to duodenal mucosa injury."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.101261"}], "href": "https://doi.org/10.1242/jcs.101261"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22946046"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22946046"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Tomoki Yano, Takeshi Matsui, Atsushi Tamura, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The association of microtubules with tight junctions is promoted by cingulin phosphorylation by AMPK."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201304194"}], "href": "https://doi.org/10.1083/jcb.201304194"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24385485"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24385485"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Klaudia Schossleitner, Sabine Rauscher, Marion Gröger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Evidence That Cingulin Regulates Endothelial Barrier Function In Vitro and In Vivo."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arterioscler Thromb Vasc Biol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1161/ATVBAHA.115.307032"}], "href": "https://doi.org/10.1161/ATVBAHA.115.307032"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26821949"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26821949"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "B D Lynn, Xinbo Li, J I Nagy "}, {"type": "b", "children": [{"type": "t", "text": "Under construction: building the macromolecular superstructure and signaling components of an electrical synapse."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Membr Biol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00232-012-9451-5"}], "href": "https://doi.org/10.1007/s00232-012-9451-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22722764"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22722764"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Tomoki Yano, Takayuki Torisawa, Kazuhiro Oiwa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "AMPK-dependent phosphorylation of cingulin reversibly regulates its binding to actin filaments and microtubules."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-018-33418-7"}], "href": "https://doi.org/10.1038/s41598-018-33418-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30341325"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30341325"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Kristina Zhuravleva, Ole Goertz, Gerald Wölkart, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The tight junction protein cingulin regulates the vascular response to burn injury in a mouse model."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Microvasc Res (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.mvr.2020.104067"}], "href": "https://doi.org/10.1016/j.mvr.2020.104067"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32877697"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32877697"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Guang-Jie Zhu, Yuhang Huang, Linqing Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO Mol Med (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.15252/emmm.202317611"}], "href": "https://doi.org/10.15252/emmm.202317611"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37691516"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37691516"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Jessica X Chong, Jared C Talbot, Emily M Teets, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2020.06.014"}], "href": "https://doi.org/10.1016/j.ajhg.2020.06.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32707087"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32707087"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Sanjay Sachdev, Malay K Raychowdhury, Satyapriya Sarkar "}, {"type": "b", "children": [{"type": "t", "text": "Human fast skeletal myosin light chain 2 cDNA: isolation, tissue specific expression of the single copy gene, comparative sequence analysis of isoforms and evolutionary relationships."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "DNA Seq (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/1042517031000154952"}], "href": "https://doi.org/10.1080/1042517031000154952"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14756420"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14756420"}]}]}]}
NCBI Gene ID 29895
API
Download Associations
Predicted Functions View MYL11's ARCHS4 Predicted Functions.
Co-expressed Genes View MYL11's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View MYL11's ARCHS4 Predicted Functions.

Functional Associations

MYL11 has 1,339 functional associations with biological entities spanning 5 categories (chemical, functional term, phrase or reference, disease, phenotype or trait, cell line, cell type or tissue, gene, protein or microRNA) extracted from 29 datasets.

Click the + buttons to view associations for MYL11 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 MYL11 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 MYL11 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
CellMarker Gene-Cell Type Associations cell types associated with MYL11 gene from the CellMarker Gene-Cell Type Associations dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of MYL11 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing MYL11 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with MYL11 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
GO Biological Process Annotations 2025 biological processes involving MYL11 gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2025 cellular components containing MYL11 protein from the curated GO Cellular Component Annotations 2025 dataset.
GO Molecular Function Annotations 2025 molecular functions performed by MYL11 gene from the curated GO Molecular Function Annotations 2025 dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of MYL11 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with MYL11 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
HuBMAP ASCT+B Annotations cell types associated with MYL11 gene from the HuBMAP ASCT+B dataset.
HuBMAP ASCT+B Augmented with RNA-seq Coexpression cell types associated with MYL11 gene from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.
HuBMAP Azimuth Cell Type Annotations cell types associated with MYL11 gene from the HuBMAP Azimuth Cell Type Annotations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of MYL11 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 MYL11 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
KEGG Pathways 2026 pathways involving MYL11 protein from the KEGG Pathways 2026 dataset.
Kinase Library Tyrosine Kinome Atlas kinases that phosphorylate MYL11 protein from the Kinase Library Tyrosine Kinome Atlas dataset.
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures small molecule perturbations changing expression of MYL11 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset.
MoTrPAC Rat Endurance Exercise Training tissue samples with high or low expression of MYL11 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset.
PFOCR Pathway Figure Associations 2024 pathways involving MYL11 protein from the Wikipathways PFOCR 2024 dataset.
Reactome Pathways 2024 pathways involving MYL11 protein from the Reactome Pathways 2024 dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of MYL11 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of MYL11 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of MYL11 gene from the RummaGEO Gene Perturbation Signatures dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of MYL11 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 MYL11 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 MYL11 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
WikiPathways Pathways 2024 pathways involving MYL11 protein from the WikiPathways Pathways 2024 dataset.