Repetin

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RPTN
Identifiers
Aliases RPTN, Repetin
External IDs MGI: 1099055 HomoloGene: 84780 GeneCards: RPTN
Gene location (Human)
Chromosome 1 (human)
Chr. Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for RPTN
Genomic location for RPTN
Band 1q21.3 Start 152,153,595 bp[1]
End 152,159,228 bp[1]
Orthologs
Species Human Mouse
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 Mb Chr 1: 93.39 – 93.4 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/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 a EF hand structural domain.

RPTN is one of the genes that differ between present-day humans and Neanderthals.[5] 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.[citation needed]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000215853 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041984 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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. PMID 20448178.