Repetin

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.

RPTN
Identifiers
AliasesRPTN, Repetin
External IDsOMIM: 613259 MGI: 1099055 HomoloGene: 84780 GeneCards: RPTN
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1q21.3Start152,153,595 bp[1]
End152,159,228 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

126638

20129

Ensembl

ENSG00000215853

ENSMUSG00000041984

UniProt

Q6XPR3

P97347

RefSeq (mRNA)

NM_152364
NM_001122965

NM_009100

RefSeq (protein)

NP_001116437

NP_033126

Location (UCSC)Chr 1: 152.15 – 152.16 MbChr 3: 93.39 – 93.4 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. RPTN is one of 30 specific differences between modern man's DNA and Neanderthal's.

References

  1. GRCh38: Ensembl release 89: ENSG00000215853 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000041984 - 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. 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. doi:10.1126/science.1188021. PMC 5100745. PMID 20448178.
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