HMCN1 Gene

HGNC Family	Fibulins (FBLN), Immunoglobulin superfamily domain containing
Name	hemicentin 1
Description	This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Hemicentin‐1 (HMCN1) is a large extracellular matrix protein that has been implicated in diverse physiological and pathological processes. In one early study, a non‐conservative missense mutation (Q5345R) in HMCN1 co‐segregated with age‐related macular degeneration (AMD) in a large pedigree, suggesting that HMCN1 could represent the ARMD1 gene and contribute to AMD pathogenesis through its role in extracellular matrix organization."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Subsequent investigations evaluating AMD in different populations, however, revealed that HMCN1 sequence variants are rare or of limited impact compared to other genes, with some studies failing to detect a significant association while others identified rare mutations in familial early‐onset AMD cases."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "2", "end_ref": "4"}]}, {"type": "t", "text": " Beyond its ocular involvement, HMCN1 performs a critical extracellular role during cytokinesis; extracellular hemicentins assemble at the cleavage furrow of dividing cells, ensuring proper stabilization and preventing furrow retraction, which marks them as the first secreted proteins required for successful cytokinesis in mammalian development."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, genetic variants in HMCN1 have been linked to renal pathophysiology; specific single nucleotide polymorphisms in HMCN1 were associated with altered progression of creatinine clearance in diabetic nephropathy, implicating HMCN1 in common pathways that influence both ocular and renal function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " In a different setting, HMCN1 expression in cancer‐associated fibroblasts was shown to modulate ovarian cancer invasion through activation of the RhoA signaling pathway, suggesting that HMCN1 can also affect cell migration and tumor progression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Finally, HMCN1 mutations have been implicated in rare congenital conditions (for example, familial splenic epidermoid cysts) via combinatorial genetic approaches, thereby extending its potential impact on human disease beyond AMD."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, HMCN1 is a multifunctional extracellular matrix protein whose roles in maintaining structural integrity during cytokinesis, as well as its involvement in the pathogenesis of age‐related macular degeneration, renal dysfunction, and cancer invasion, underscore its importance in both development and disease.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Dennis W Schultz, Michael L Klein, Andrea J Humpert, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddg348"}], "href": "https://doi.org/10.1093/hmg/ddg348"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14570714"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14570714"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Christine M Bojanowski, Jingsheng Tuo, Emily Y Chew, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Analysis of Hemicentin-1, hOgg1, and E-selectin single nucleotide polymorphisms in age-related macular degeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Trans Am Ophthalmol Soc (2005)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17057786"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17057786"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Sheila A Fisher, Andrea Rivera, Lars G Fritsche, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.20464"}], "href": "https://doi.org/10.1002/humu.20464"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17216616"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17216616"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Eran Pras, Dana Kristal, Nadav Shoshany, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmedgenet-2015-103130"}], "href": "https://doi.org/10.1136/jmedgenet-2015-103130"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25986072"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25986072"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Xuehong Xu, Bruce E Vogel "}, {"type": "b", "children": [{"type": "t", "text": "A secreted protein promotes cleavage furrow maturation during cytokinesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Curr Biol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cub.2010.12.006"}], "href": "https://doi.org/10.1016/j.cub.2010.12.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21215633"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21215633"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Cheryl L Thompson, Barbara E K Klein, Ronald Klein, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddm164"}], "href": "https://doi.org/10.1093/hmg/ddm164"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17591627"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17591627"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Chao Lien Liu, Hung Wei Pan, Pao Ling Torng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SRPX and HMCN1 regulate cancer‑associated fibroblasts to promote the invasiveness of ovarian carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncol Rep (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/or.2019.7379"}], "href": "https://doi.org/10.3892/or.2019.7379"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31638245"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31638245"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Rebecca J Richardson, Jan M Gebauer, Jin-Li Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "AMACO is a component of the basement membrane-associated Fraser complex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Invest Dermatol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/jid.2013.492"}], "href": "https://doi.org/10.1038/jid.2013.492"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24232570"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24232570"}]}]}]}
Synonyms	FIBL6, ARMD1, FIBL-6, FBLN6
Proteins	HMCN1_HUMAN
NCBI Gene ID	83872
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

HMCN1 has 6,019 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 116 datasets.

Click the + buttons to view associations for HMCN1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

HMCN1 Gene

Functional Associations

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

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of HMCN1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of HMCN1 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 HMCN1 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 HMCN1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of HMCN1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of HMCN1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of HMCN1 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 HMCN1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of HMCN1 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 HMCN1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with HMCN1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with HMCN1 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 HMCN1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of HMCN1 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 HMCN1 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 HMCN1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing HMCN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing HMCN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing HMCN1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing HMCN1 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 HMCN1 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 HMCN1 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 HMCN1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with HMCN1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with HMCN1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with HMCN1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with HMCN1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of HMCN1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by HMCN1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving HMCN1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving HMCN1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with HMCN1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with HMCN1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with HMCN1 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 HMCN1 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 HMCN1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with HMCN1 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 HMCN1 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 HMCN1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of HMCN1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.