HMCN1

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]

Description

Hemicentin 1

Tissue specificity

Tissue enhanced (lung)

Subcell location

Golgi apparatus, Cytosol

Predicted location

Intracellular, Secreted to extracellular matrix

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (185734391 - 186190949)

Ensembl ID

ENSG00000143341  (ver. 103.38)

Orthologs

Mouse Hmcn1: ENSMUSG00000066842

UniProt

Q96RW7

neXtProt

NX_Q96RW7

Human splice variants
Mouse splice variants

Protein structure