SPRR1A | |||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||
Aliases | SPRR1A , SPRK, small proline rich protein 1A | ||||||||||||||||||||||||
External IDs | OMIM: 182265 MGI: 106660 HomoloGene: 105698 GeneCards: SPRR1A | ||||||||||||||||||||||||
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Orthologs | |||||||||||||||||||||||||
Species | Human | Mouse | |||||||||||||||||||||||
Entrez | |||||||||||||||||||||||||
Ensembl | |||||||||||||||||||||||||
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Location (UCSC) | Chr 1: 152.99 – 152.99 Mb | Chr 3: 92.39 – 92.39 Mb | |||||||||||||||||||||||
PubMed search | [3] | [4] | |||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||
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Cornifin-A is a protein that in humans is encoded by the SPRR1A gene. [5] [6]
Keratin 1 is a member of the keratin family. It is specifically expressed in the spinous and granular layers of the epidermis with family member keratin 10. Mutations in this gene have been associated with the variants of bullous congenital ichthyosiform erythroderma in which the palms and soles of the feet are affected.
C-X-C motif chemokine 11 (CXCL11) is a protein that in humans is encoded by the CXCL11 gene.
Protein-glutamine gamma-glutamyltransferase K is a transglutaminase enzyme that in humans is encoded by the TGM1 gene.
Keratohyalin is a protein structure found in cytoplasmic granules of the keratinocytes in the stratum granulosum of the epidermis. Keratohyalin granules (KHG) mainly consist of keratin, profilaggrin, loricrin and trichohyalin proteins which contribute to cornification or keratinization, the process of the formation of epidermal cornified cell envelope. During the keratinocyte differentiation, these granules maturate and expand in size, which leads to the conversion of keratin tonofilaments into a homogenous keratin matrix, an important step in cornification.
Dystonin(DST), also known as bullous pemphigoid antigen 1 (BPAG1), isoforms 1/2/3/4/5/8, is a protein that in humans is encoded by the DST gene.
Cystatin-A is a protein that in humans is encoded by the CSTA gene.
Involucrin is a protein component of human skin and in humans is encoded by the IVL gene. In binding the protein loricrin, involucrin contributes to the formation of a cell envelope that protects corneocytes in the skin.
Protein-glutamine gamma-glutamyltransferase E is an enzyme that in humans is encoded by the TGM3 gene.
Periplakin is a protein that in humans is encoded by the PPL gene.
Small proline-rich protein 3 is a protein that in humans is encoded by the SPRR3 gene, which is found within the epidermal differentiation complex (EDC).
Loricrin is a protein that in humans is encoded by the LOR gene.
SH3 and multiple ankyrin repeat domains protein 2 is a protein that in humans is encoded by the SHANK2 gene. Two alternative splice variants, encoding distinct isoforms, are reported. Additional splice variants exist but their full-length nature has not been determined.
Envoplakin is a protein that in humans is encoded by the EVPL gene.
Cornifin-B is a protein that in humans is encoded by the SPRR1B gene.
Proline-rich AKT1 substrate 1 (PRAS) is a protein that in humans is encoded by the AKT1S1 gene.
Periphilin-1 is a protein that in humans is encoded by the PPHLN1 gene.
Small proline-rich protein 2A is a protein that in humans is encoded by the SPRR2A gene.
Sciellin is a protein that in humans is encoded by the SCEL gene.
Trichohyalin is a protein that in mammals is encoded by the TCHH gene.
The epidermal differentiation complex (EDC) is a gene complex comprising over fifty genes encoding proteins involved in the terminal differentiation and cornification of keratinocytes, the primary cell type of the epidermis. In humans, the complex is located on a 1.9 Mbp stretch within chromosome 1q21. The proteins encoded by EDC genes are closely related in terms of function, and evolutionarily they belong to three distinct gene families: the cornified envelope precursor family, the S100 protein family and the S100 fused type protein (SFTP) family.