SPRR3 | |||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||
Aliases | SPRR3 , small proline rich protein 3 | ||||||||||||||||||||||||
External IDs | OMIM: 182271 MGI: 1330237 HomoloGene: 135951 GeneCards: SPRR3 | ||||||||||||||||||||||||
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Orthologs | |||||||||||||||||||||||||
Species | Human | Mouse | |||||||||||||||||||||||
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Location (UCSC) | Chr 1: 153 – 153 Mb | Chr 3: 92.36 – 92.37 Mb | |||||||||||||||||||||||
PubMed search | [3] | [4] | |||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||
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Small proline-rich protein 3 is a protein that in humans is encoded by the SPRR3 gene, [5] [6] which is found within the epidermal differentiation complex (EDC). [7]
Keratinocytes are the primary type of cell found in the epidermis, the outermost layer of the skin. In humans, they constitute 90% of epidermal skin cells. Basal cells in the basal layer of the skin are sometimes referred to as basal keratinocytes. Keratinocytes form a barrier against environmental damage by heat, UV radiation, water loss, pathogenic bacteria, fungi, parasites, and viruses. A number of structural proteins, enzymes, lipids, and antimicrobial peptides contribute to maintain the important barrier function of the skin. Keratinocytes differentiate from epidermal stem cells in the lower part of the epidermis and migrate towards the surface, finally becoming corneocytes and eventually be shed off, which happens every 40 to 56 days in humans.
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.
Desmoplakin is a protein in humans that is encoded by the DSP gene. Desmoplakin is a critical component of desmosome structures in cardiac muscle and epidermal cells, which function to maintain the structural integrity at adjacent cell contacts. In cardiac muscle, desmoplakin is localized to intercalated discs which mechanically couple cardiac cells to function in a coordinated syncytial structure. Mutations in desmoplakin have been shown to play a role in dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, striate palmoplantar keratoderma, Carvajal syndrome and paraneoplastic pemphigus.
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.
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.
Hematopoietically-expressed homeobox protein HHEX is a protein that in humans is encoded by the HHEX gene and also known as Proline Rich Homeodomain protein PRH.
Fatty acid-binding protein, epidermal is a protein that in humans is encoded by the FABP5 gene.
Periplakin is a protein that in humans is encoded by the PPL gene.
Loricrin is a protein that in humans is encoded by the LOR gene.
Caspase 14 is an enzyme that in humans is encoded by the CASP14 gene.
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.
Cornifin-A is a protein that in humans is encoded by the SPRR1A 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.