Hemicentin 1

HMCN1
Identifiers
Aliases	HMCN1, ARMD1, FBLN6, FIBL-6, FIBL6, hemicentin 1
External IDs	OMIM: 608548 MGI: 2685047 HomoloGene: 23741 GeneCards: HMCN1
Gene location (Human)
Chr.	Chromosome 1 (human)[1]
End	186,190,949 bp[1]
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)[2]
End	150,869,186 bp[2]
RNA expression pattern
	Top expressed in
	ascending aorta; ; visceral pleura; ; right coronary artery; ; left coronary artery; ; synovial membrane; ; synovial joint; ; right lung; ; Achilles tendon; ; upper lobe of left lung; ; secondary oocyte;
	Top expressed in
	hand; ; atrium; ; atrioventricular valve; ; external carotid artery; ; vas deferens; ; dermis; ; condyle; ; lung; ; internal carotid artery; ; right lung;
	More reference expression data
	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
	83872
	545370
	ENSG00000143341
	ENSMUSG00000066842
	Q96RW7
	D3YXG0
	NM_031935
	NM_001024720
	NP_114141
	NP_001019891
	Wikidata
View/Edit Human	View/Edit Mouse

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

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]

References

GRCh38: Ensembl release 89: ENSG00000143341 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000066842 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Vogel BE, Hedgecock EM (Mar 2001). "Hemicentin, a conserved extracellular member of the immunoglobulin superfamily, organizes epithelial and other cell attachments into oriented line-shaped junctions". Development. 128 (6): 883–94. doi:10.1242/dev.128.6.883. PMID 11222143.
"Entrez Gene: HMCN1 hemicentin 1".

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.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000143341 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000066842 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11222143-5] Vogel BE, Hedgecock EM (Mar 2001). "Hemicentin, a conserved extracellular member of the immunoglobulin superfamily, organizes epithelial and other cell attachments into oriented line-shaped junctions". Development. 128 (6): 883–94. doi:10.1242/dev.128.6.883. PMID 11222143.

[entrez-6] "Entrez Gene: HMCN1 hemicentin 1".

Hemicentin 1

References

Further reading