1. Gene
  2. SPRR1A - small proline rich protein 1A Gene

SPRR1A - small proline rich protein 1A Gene

Homo sapiens

Also known as SPRK

Gene ID: 6698 | Gene type: protein coding

About SPRR1A

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:152,984,081-152,985,814 (from NCBI)

This gene has 2 transcripts (splice variants), 62 orthologues and 20 paralogues. Restricted expression toward esophagus (RPKM 829.4).

Summary

A structural constituent of skin epidermis. Involved in keratinocyte differentiation and peptide cross-linking. Located in cornified envelope. [provided by Alliance of Genome Resources, Apr 2022]

SPRR1A Products(2)

mRNA Protein Name
NM_001199828.2 NP_001186757.1 cornifin-A
NM_005987.4 NP_005978.2 cornifin-A

SPRR1A Protein Structure

Cornifin

Cornifin: Cornifin (SPRR) family (17 - 57)

Cornifin

Cornifin: Cornifin (SPRR) family (42 - 87)

  • 0
  • 89 a.a.
Protein Preferred Names Protein Names

cornifin-A

19 kDa pancornulin

Related Diseases

Diseases Alias
Progesterone-Receptor Positive Breast Cancer
Macular Degeneration, Age-Related, 13

Age Related Macular Degeneration 13

ARMD13

Macular Degeneration, Age-Related, 13, Susceptibility To

Macular Degeneration, Age-Related, Type 13

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

Orthologs Information

Species Symbol Source ID
Mus musculus SPRR1A MGD MGI:106660
Rattus norvegicus SPRR1A RGD RGD:1593163