RPTN - repetin Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 126638

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

S_100: S-100/ICaBP type calcium binding domain (4 - 47)

  • 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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS12273 RPTN Human Pre-designed siRNA Set A Pre-designed Set / 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