Repetin

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)
End	152,159,228 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	93,306,749 bp
RNA expression pattern
	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
	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

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000215853 – Ensembl, May 2017
^ ^a ^b ^c 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.

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

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