Repetin

RPTN
Identifiers
Aliases RPTN, Repetin
External IDs MGI: 1099055 HomoloGene: 84780 GeneCards: RPTN
Orthologs
Species Human Mouse
Entrez

126638

20129

Ensembl

ENSG00000215853

ENSMUSG00000041984

UniProt

Q6XPR3

P97347

RefSeq (mRNA)

NM_152364
NM_001122965

NM_009100

RefSeq (protein)

NP_001116437.1

NP_033126.2

Location (UCSC) Chr 1: 152.15 – 152.16 Mb Chr 3: 93.39 – 93.4 Mb
PubMed search [1] [2]
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 S-100 protein family and contains a EF hand structural domain.

RPTN is one of the genes that differ between present-day humans and Neanderthals.[3] 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 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. RPTN is one of 30 specific differences between modern man's DNA and Neanderthal's.

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. Richard E. Green; et al. (2010). "A Draft Sequence of the Neandertal Genome". Science. 328 (5979): 710–722. doi:10.1126/science.1188021. PMID 20448178.
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