HMCN1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
HMCN1
Official Name
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Ensembl ID
ENSG00000143341
Bio databases IDs NCBI: 83872 Ensembl: ENSG00000143341
Aliases hemicentin 1, fibulin 6
Synonyms ARMD1, AXPC1, EG545370, FBLN6, FIBL-6, Gm201, HEMICENTIN-1, RGD1564772
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HMCN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Thrombospondin type 1 repeats
  • Thrombospondin type 1 domain
  • Immunoglobulin C1-set domain
  • Complement Clr-like EGF-like
  • von Willebrand factor (vWF) type A domain
  • immunoglobulin domain
  • Human growth factor-like EGF
  • Immunoglobulin I-set domain
  • von Willebrand factor type A domain
  • nidG2
  • protein binding
  • T-cell surface glycoprotein CD3 delta chain
  • EGF_CA
  • vWFA
  • Immunoglobulin like
  • EGF domain
  • Spondin-like TSP1 domain
  • Immunoglobulin V-set domain
  • Coagulation Factor Xa inhibitory site

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • breast cancer
  • epithelial cancer
  • liver cancer
  • hepatocellular carcinoma
  • age-related macular degeneration
  • age-related macular degeneration type 1
  • chronic obstructive pulmonary disease
  • late-onset Alzheimer disease
  • oral squamous cell carcinoma
  • squamous cell cancer of the oral cavity
regulated by
role in cell
  • organization

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • cell junction
  • extracellular vesicles
  • Cytoplasm
  • cell cortex
  • extracellular matrix
  • cell-matrix adherens junctions
  • basement membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human HMCN1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cell division
  • response to bacterium
  • heterophilic cell-cell adhesion
  • basement membrane organization
  • homophilic cell adhesion
  • visual perception
  • actin cytoskeleton organization

Cellular Component

Where in the cell the gene product is active
  • adherens junction
  • basement membrane
  • extracellular vesicular exosome
  • cleavage furrow
  • cytoplasm
  • cell cortex
  • muscle tendon junction

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • calcium ion binding
  • extracellular matrix structural constituent

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.