Hemicentin 1

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

HMCN1
Identifiers
AliasesHMCN1, ARMD1, FBLN6, FIBL-6, FIBL6, hemicentin 1
External IDsOMIM: 608548 MGI: 2685047 HomoloGene: 23741 GeneCards: HMCN1
Orthologs
SpeciesHumanMouse
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 MbChr 1: 150.44 – 150.87 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000143341 - Ensembl, May 2017
  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.
  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.
  6. "Entrez Gene: HMCN1 hemicentin 1".

Further reading


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