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Repetin

From Wikipedia, the free encyclopedia
RPTN
Identifiers
AliasesRPTN, Repetin
External IDsOMIM: 613259; MGI: 1099055; HomoloGene: 84780; GeneCards: RPTN; OMA:RPTN - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_152364
NM_001122965

NM_009100

RefSeq (protein)

NP_001116437

NP_033126

Location (UCSC)Chr 1: 152.15 – 152.16 MbChr 3: 93.3 – 93.31 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Repetin is an extracellular matrix protein expressed in the epidermis. In humans it is encoded by the RPTN gene. Repetin is part of the S100 fused-type protein family and contains an EF hand structural domain.

It functions in the cornified cell envelope formation. It is a multifunctional epidermal matrix protein. RPTN reversibly binds calcium.

RPTN is 5,634 bases long. It starts 152,126,071 base pairs from pter. It ends 152,131,704 base pairs from pter. It has a minus strand orientation.

RPTN is one of the genes that differ between present-day humans and Neanderthals.[5] RPTN helps protect skin cells, and since the Neanderthals were missing this protein, the Neanderthals were better adapted to the cold, but less so to disease.

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000215853Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041984Ensembl, 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. ^ Green RE, Krause J, Briggs AW, Maricic T, Stenzel U, Kircher M, et al. (May 2010). "A draft sequence of the Neandertal genome". Science. 328 (5979): 710–22. Bibcode:2010Sci...328..710G. doi:10.1126/science.1188021. PMC 5100745. PMID 20448178.