Repetin

RPTN
Identifiers
Aliases	RPTN, Repetin
External IDs	OMIM: 613259 MGI: 1099055 HomoloGene: 84780 GeneCards: RPTN
Gene location (Human)
Chr.	Chromosome 1 (human)[1]
End	152,159,228 bp[1]
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)[2]
End	93,399,442 bp[2]
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
	126638
	20129
	ENSG00000215853
	ENSMUSG00000041984
	Q6XPR3
	P97347
	NM_152364; NM_001122965
	NM_009100
	NP_001116437
	NP_033126
	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 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. RPTN is one of 30 specific differences between modern man's DNA and Neanderthal's.

References

GRCh38: Ensembl release 89: ENSG00000215853 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000041984 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000215853 - Ensembl, May 2017

[refGRCm38Ensembl-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.