InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HMCN1

Summary

InnateDB Protein

IDBP-105395.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HMCN1

Protein Name

hemicentin 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000271588

InnateDB Gene

IDBG-105391 (HMCN1)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000250}.

Disease Associations

Macular degeneration, age-related, 1 (ARMD1) [MIM:603075]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269PubMed:14570714}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Isoform 1 and isoform 2 are expressed in skin fibroblasts and retinal pigment epithelium (RPE) cells. {ECO:0000269PubMed:14570714}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	2 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding

Biological Process

GO:0007601	visual perception
GO:0050896	response to stimulus

Cellular Component

GO:0005576	extracellular region
GO:0005604	basement membrane
GO:0005938	cell cortex
GO:0016020	membrane
GO:0030054	cell junction
GO:0031012	extracellular matrix
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000742 Epidermal growth factor-like domain
IPR000884 Thrombospondin, type 1 repeat
IPR001881 EGF-like calcium-binding domain
IPR002035 von Willebrand factor, type A
IPR003596 Immunoglobulin V-set, subgroup
IPR003598 Immunoglobulin subtype 2
IPR003599 Immunoglobulin subtype
IPR006605 G2 nidogen/fibulin G2F
IPR007110 Immunoglobulin-like domain
IPR009017 Green fluorescent protein
IPR009030 Insulin-like growth factor binding protein, N-terminal
IPR013098 Immunoglobulin I-set
IPR013106 Immunoglobulin V-set domain
IPR013151 Immunoglobulin
IPR015919 Cadherin-like

PFAM