RPTN
Identifiers
Aliases	RPTN, Repetin
External IDs	OMIM: 613259 MGI: 1099055 HomoloGene: 84780 GeneCards: RPTN
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q21.3 Start 152,153,595 bp[1] End 152,159,228 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 F2.1 Start 93,301,006 bp[2] End 93,306,749 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gums tongue body of tongue superior surface of tongue sperm amniotic fluid skin of abdomen cavity of mouth thymus vulva Top expressed in esophagus superior surface of tongue lip molar mucous cell of stomach sexually immature organism skin of abdomen skin of back cervix pyloric antrum More reference expression data BioGPS n/a
Gene ontology Molecular function metal ion binding calcium ion binding transition metal ion binding Cellular component extracellular region cytosol cornified envelope Biological process cornification Sources:Amigo / QuickGO
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 NP_033126 Location (UCSC) Chr 1: 152.15 – 152.16 Mb Chr 3: 93.3 – 93.31 Mb PubMed search [3] [4]
Wikidata
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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