RPTN - repetin Gene

Homo sapiens

Gene ID: 126638 | Gene type: protein coding

About RPTN

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:152,153,595-152,159,228 (from NCBI)

This gene has 1 transcript (splice variant), 86 orthologues and 3 paralogues. Restricted expression toward skin (RPKM 15.3).

Summary

Predicted to enable calcium ion binding activity and transition metal ion binding activity. Predicted to be located in cytosol. Predicted to be active in cornified envelope. [provided by Alliance of Genome Resources, Apr 2022]

RPTN Products(1)

mRNA	Protein	Name
NM_001122965.1	NP_001116437.1	repetin

RPTN Protein Structure

S_100

0
200
400
600
784 a.a.

Protein Preferred Names

Protein Names

repetin

intermediate filament-associated protein

Related Diseases

Diseases

Alias

Ichthyosis Vulgaris

Ichthyosis Simplex	Dominant Congenital Ichthyosiform Erythroderma
Common Ichthyosis	Fish Scale Disease
VI	Ichthyoses
Congenital Ichthyosis

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis	Congenital Ichthyosiform Erythroderma
Li	Congenital Nonbullous Ichthyosiform Erythroderma
Arci	Congenital Lamellar Ichthyosis
Nonbullous Congenital Ichthyosiform Erythroderma	Cie
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythrodermic Ichthyosis
Nbcie	Ncie
Non-Bullous Congenital Ichthyosiform Erythroderma	Collodion Baby
Ichthyosis, Lamellar	Non Bullous Congenital Ichthyosiform Erythroderma
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Collodion Baby Syndrome	Ichthyoses, Lamellar
Nbie	Nonbullous Ichthyosiform Erythroderma
Classic Lamellar Ichthyosis	Ichthyosiform Erythroderma Nonbullous Congenital
Ichthyosiform Erythroderma Congenital	Ichthyosis, Congenital, Autosomal Recessive
Ichthyosiform Erythroderma, Congenital	Collodion Fetus
Non-Bullous Ichthyosiform Erythroderma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12273	RPTN Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RPTN	VGNC	VGNC:107616
Mus musculus	RPTN	MGD	MGI:1099055
Rattus norvegicus	RPTN	RGD	RGD:1311687
Canis familiaris	RPTN	VGNC	VGNC:58330
Macaca mulatta	RPTN	VGNC	VGNC:100066
Bos taurus	RPTN	VGNC	VGNC:55674