HMCN1: Hemicentin 1 – Extracellular Matrix Protein in Age-Related Macular Degeneration
Comprehensive genomic and proteomic overview of HMCN1, a gene encoding hemicentin-1 implicated in cell adhesion and retinal disease.
Gene Information Card
| Symbol | HMCN1 |
|---|---|
| Full Name | Hemicentin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q25.3 |
| NCBI Gene ID | 83872 ncbi.nlm.nih.gov/gene/83872 |
| Ensembl ID | ENSG00000143341 |
| UniProt ID | Q96RW7 |
| OMIM ID | 608548 |
| HGNC ID | 17532 |
| Aliases | FIBL-6, FIBL6, ARMD1 |
Description
HMCN1 encodes hemicentin-1, a large extracellular matrix protein belonging to the fibulin family. It is involved in cell adhesion, migration, and tissue integrity, particularly in the retina and vasculature. Variants in HMCN1 are associated with age-related macular degeneration (AMD) and other connective tissue disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Age-related macular degeneration (AMD) | Missense and splice-site variants in HMCN1 disrupt extracellular matrix assembly in Bruch's membrane, contributing to drusen formation and retinal degeneration. | OMIM 608548; ClinVar |
| Macular degeneration, age-related, 1 (ARMD1) | Linkage studies implicate HMCN1 on chromosome 1q25-q31 in familial AMD. | OMIM 603075 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 15.2 | Highest expression in RPE cells |
| HUVEC (endothelial) | 7.8 | Moderate expression |
| HeLa | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1058C>T (p.Thr353Ile) | Missense | Rare | Associated with AMD risk; alters protein stability |
| c.2672G>A (p.Arg891Gln) | Missense | Rare | Potential loss of function in extracellular matrix binding |
| c.4144+1G>A | Splice donor | Rare | Predicted to cause exon skipping and truncated protein |
Mutation functional classification
Loss of Function (LOF)
Splice-site and nonsense variants leading to truncated hemicentin-1 are likely loss-of-function, impairing extracellular matrix assembly.
Gain of Function (GOF)
No evidence of gain-of-function mutations in HMCN1.
Dominant Negative (DN)
Missense variants may exert dominant-negative effects by disrupting hemicentin-1 multimerization.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix (GO:0005578) | • cell adhesion (GO:0007155) |
| • extracellular matrix structural constituent (GO:0005201) | • extracellular matrix organization (GO:0030020) |
| • plasma membrane (GO:0005886) |
Pathways
• Extracellular matrix organization (Reactome R-HSA-1474244)
• Integrin cell surface interactions (Reactome R-HSA-216083)
Protein Summary
Hemicentin-1 (UniProt Q96RW7) is a 5635-amino acid extracellular matrix glycoprotein with multiple calcium-binding EGF-like domains and a C-terminal fibulin-type module. It localizes to basement membranes and elastic fibers, mediating cell-matrix adhesion and tissue homeostasis. Mutations are linked to retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HMCN1 Knockout HEK293 Cell Line | EDJ-KQ9918 | Human | 83872 | Details Get a Quote |
| HMCN1 Knockout HeLa Cell Line | EDJ-KQ57487 | Human | 83872 | Details Get a Quote |
| HMCN1 Knockout A-549 Cell Line | EDJ-KQ65991 | Human | 83872 | Details Get a Quote |
| HMCN1 Knockout HCT 116 Cell Line | EDJ-KQ74414 | Human | 83872 | Details Get a Quote |
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