Hemicentin 1

Hemicentin-1 is a protein that in humans is encoded by the HMCN1 gene.^[5][6]

AliasesHMCN1, ARMD1, FBLN6, FIBL-6, FIBL6, hemicentin 1

External IDsOMIM: 608548; MGI: 2685047; HomoloGene: 23741; GeneCards: HMCN1; OMA:HMCN1 - orthologs

Chr.Chromosome 1 (human)^[1]

End186,190,949 bp^[1]

Quick facts HMCN1, Identifiers ...

HMCN1
Identifiers
Aliases	HMCN1, ARMD1, FBLN6, FIBL-6, FIBL6, hemicentin 1
External IDs	OMIM: 608548; MGI: 2685047; HomoloGene: 23741; GeneCards: HMCN1; OMA:HMCN1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q25.3-q31.1 Start 185,734,391 bp[1] End 186,190,949 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 G1 Start 150,438,275 bp[2] End 150,869,186 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Descending thoracic aorta ascending aorta visceral pleura right coronary artery skin of hip left coronary artery synovial membrane synovial joint cardiac muscle tissue of right atrium right lung Top expressed in hand atrium Gonadal ridge atrioventricular valve external carotid artery vas deferens dermis vestibular membrane of cochlear duct condyle lung More reference expression data BioGPS n/a
Gene ontology Molecular function calcium ion binding extracellular matrix structural constituent signaling receptor activity protein homodimerization activity cell adhesion molecule binding Cellular component extracellular matrix extracellular region basement membrane cell junction cell cortex extracellular exosome cytoplasm cleavage furrow collagen-containing extracellular matrix Biological process response to stimulus visual perception cell cycle cell division homophilic cell adhesion via plasma membrane adhesion molecules heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules response to bacterium Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 83872 545370 Ensembl ENSG00000143341 ENSMUSG00000066842 UniProt Q96RW7 D3YXG0 RefSeq (mRNA) NM_031935 NM_001024720 RefSeq (protein) NP_114141 NP_001019891 Location (UCSC) Chr 1: 185.73 – 186.19 Mb Chr 1: 150.44 – 150.87 Mb PubMed search [3] [4]
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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.^[6]