Hemicentin 1

Hemicentin-1 is a protein that in humans is encoded by the HMCN1 gene.

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) Band 1q25.3-q31.1 Start 185,734,391 bp End 186,190,949 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1|1 G1 Start 150,438,275 bp End 150,869,186 bp
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
Wikidata
View/Edit Human View/Edit Mouse

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.

Further reading

• Whittaker CA, Hynes RO (2003). "Distribution and Evolution of von Willebrand/Integrin A Domains: Widely Dispersed Domains with Roles in Cell Adhesion and Elsewhere". Mol. Biol. Cell. 13 (10): 3369–87. doi:10.1091/mbc.E02-05-0259. PMC 129952. PMID 12388743.
• Allikmets R, Shroyer NF, Singh N, et al. (1997). "Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration". Science. 277 (5333): 1805–7. doi:10.1126/science.277.5333.1805. PMID 9295268.
• Higgins JJ, Morton DH, Patronas N, Nee LE (1998). "An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa". Neurology. 49 (6): 1717–20. doi:10.1212/wnl.49.6.1717. PMID 9409377. S2CID 20619175.
• Klein ML, Schultz DW, Edwards A, et al. (1998). "Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q". Arch. Ophthalmol. 116 (8): 1082–8. doi:10.1001/archopht.116.8.1082. PMID 9715689.
• Higgins JJ, Morton DH, Loveless JM (1999). "Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32". Neurology. 52 (1): 146–50. doi:10.1212/wnl.52.1.146. PMID 9921862. S2CID 25586370.
• Schultz DW, Klein ML, Humpert AJ, et al. (2004). "Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family". Hum. Mol. Genet. 12 (24): 3315–23. doi:10.1093/hmg/ddg348. PMID 14570714.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
• Seitsonen S, Lemmelä S, Holopainen J, et al. (2006). "Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population". Mol. Vis. 12: 796–801. PMID 16885922.
• Bojanowski CM, Tuo J, Chew EY, et al. (2006). "Analysis of Hemicentin-1, hOgg1, and E-selectin single nucleotide polymorphisms in age-related macular degeneration". Transactions of the American Ophthalmological Society. 103: 37–44, discussion 44–5. PMC 1447557. PMID 17057786.
• Fuse N, Miyazawa A, Mengkegale M, et al. (2007). "Polymorphisms in Complement Factor H and Hemicentin-1 genes in a Japanese population with dry-type age-related macular degeneration". Am. J. Ophthalmol. 142 (6): 1074–6. doi:10.1016/j.ajo.2006.07.030. PMID 17157600.
• Fisher SA, Rivera A, Fritsche LG, et al. (2007). "Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD)". Hum. Mutat. 28 (4): 406–13. doi:10.1002/humu.20464. PMID 17216616. S2CID 8088362.