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RPTN
Identifiers
Aliases	RPTN, Repetin
External IDs	OMIM: 613259; MGI: 1099055; HomoloGene: 84780; GeneCards: RPTN; OMA:RPTN - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1q21.3 Start 152,153,595 bp End 152,159,228 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3|3 F2.1 Start 93,301,006 bp End 93,306,749 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gums gingival epithelium tongue body of tongue superior surface of tongue skin of leg sperm amniotic fluid epithelium of nasopharynx skin of hip Top expressed in esophagus superior surface of tongue lip molar mucous cell of stomach sexually immature organism skin of abdomen skin of back cervix skin of external ear 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
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. 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

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. Bibcode:2010Sci...328..710G. doi:10.1126/science.1188021. PMC 5100745. PMID 20448178.

• Genes on human chromosome 1
• S100 fused-type proteins