Repetin

RPTN
Identifiers
Aliases	RPTN , Repetin
External IDs	OMIM: 613259 MGI: 1099055 HomoloGene: 84780 GeneCards: RPTN
Gene location (Human)
Chr.	Chromosome 1 (human)
End	152,159,228 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	93,306,749 bp
RNA expression pattern
	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
	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
	126638
	20129
	ENSG00000215853
	ENSMUSG00000041984
	Q6XPR3
	P97347
	NM_152364 ; NM_001122965
	NM_009100
	NP_001116437
	NP_033126
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated March 04, 2023

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.

Related Research Articles

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000215853 - Ensembl, May 2017
1 2 3 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. Bibcode:2010Sci...328..710G. doi:10.1126/science.1188021. PMC 5100745 . PMID 20448178.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000215853 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

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