Secreted Ly-6/uPAR-related protein 1 is a protein that in humans is encoded by the SLURP1 gene. [5] [6] [7] It exerts anti-inflammatory effects, acts as a tumor suppressor, and antagonizes nicotinic receptors. [8]
Secreted Ly-6/uPAR-related protein 1 is a protein that in humans is encoded by the SLURP1 gene. [5] [6] [7] It exerts anti-inflammatory effects, acts as a tumor suppressor, and antagonizes nicotinic receptors. [8]
The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is secreted into the blood [6] and is also sometimes found in semen when extracted into the female zygote which binds to the α7-acetylcholine receptor. [8] It is shown to act as an endogenous tumor suppressor by reducing cell migration and invasion by mediating its own anti-tumor effect and by antagonizing the pro-malignant effects of nicotine. [8]
Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder characterized by an inflammatory palmoplantar hyperkeratosis. This is the consequence of a loss of SLURP1 which leads to a dysfunctional epithelial differentiation [9] and an increased secretion of the inflammatory cytokines TNFα, IL1, IL-6, and IL-8. [10] [11]
This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors. [7]
Darier's disease (DAR) is an inherited skin disorder that presents with multiple greasy, crusting, thick brown bumps that merge into patches.
Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the stratum corneum of the palms and soles.
Meleda disease (MDM) or "mal de Meleda", also called Mljet disease, keratosis palmoplantaris and transgradiens of Siemens, is an extremely rare autosomal recessive congenital skin disorder in which dry, thick patches of skin develop on the soles of the hands and feet, a condition known as palmoplantar hyperkeratosis. Meleda Disease is a skin condition which usually can be identified not long after birth. This is a genetic condition but it is very rare. The hands and feet usually are the first to show signs of the disease but the disease can advance to other parts of the body. Signs of the disease include thickening of the skin, on hands and soles of feet, which can turn red in color. There currently is no cure and treatment is limited, but Acitretin can be used in severe cases.
Protoporphyrinogen oxidase or protox is an enzyme that in humans is encoded by the PPOX gene.
Cathepsin C (CTSC) also known as dipeptidyl peptidase I (DPP-I) is a lysosomal exo-cysteine protease belonging to the peptidase C1 protein family, a subgroup of the cysteine cathepsins. In humans, it is encoded by the CTSC gene.
Hay–Wells syndrome is one of at least 150 known types of ectodermal dysplasia. These disorders affect tissues that arise from the ectodermal germ layer, such as skin, hair, and nails.
Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15. It is a large, extracellular matrix glycoprotein that serves as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations altering the protein can result in a variety of phenotypic effects differing widely in their severity, including fetal death, developmental problems, Marfan syndrome or in some cases Weill-Marchesani syndrome.
The CYLD lysine 63 deubiquitinase gene, also termed the CYLD gene, CYLD is an evolutionary ancient gene found to be present as far back on the evolutionary scale as in sponges. In humans, this gene is located in band 12.1 on the long arm of chromosome 16 and is known to code multiple proteins through the process of alternative splicing.
Calcium-transporting ATPase type 2C member 1 is an enzyme that in humans is encoded by the ATP2C1 gene.
Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene.
G protein-activated inward rectifier potassium channel 2 is a protein that in humans is encoded by the KCNJ6 gene. Mutation in KCNJ6 gene has been proposed to be the cause of Keppen-Lubinsky Syndrome (KPLBS).
Fibulin-5 is a protein that in humans is encoded by the FBLN5 gene.
Vascular endothelial growth inhibitor (VEGI), also known as TNF-like ligand 1A (TL1A) and TNF superfamily member 15 (TNFSF15), is protein that in humans is encoded by the TNFSF15 gene. VEGI is an anti-angiogenic protein. It belongs to tumor necrosis factor (ligand) superfamily, where it is member 15. It is the sole known ligand for death receptor 3, and it can also be recognized by decoy receptor 3.
Xylosyltransferase 2 is an enzyme that in humans is encoded by the XYLT2 gene.
1-acylglycerol-3-phosphate O-acyltransferase ABHD5 is an enzyme that in humans is encoded by the ABHD5 gene.
Neuronal acetylcholine receptor subunit alpha-9, also known as nAChRα9, is a protein that in humans is encoded by the CHRNA9 gene. The protein encoded by this gene is a subunit of certain nicotinic acetylcholine receptors (nAchR).
CYP4F22 is a protein that in humans is encoded by the CYP4F22 gene.
For chromosome 20, R-spondin 4 is a protein in humans that is encoded by the RSPO4 gene. This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-terminal basic region. The encoded protein may be involved in activation of Wnt/beta-catenin signaling pathways. Mutations in this gene are associated with anonychia congenita. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009].
Ly6 also known as lymphocyte antigen 6 or urokinase-type plasminogen activator receptor (uPAR) is family of proteins that share a common structure but differ in their tissue expression patterns and function. Ly6 are cysteine-rich proteins that form disulfide bridges and contain a LU domain. These proteins are GPI-anchored to the cell membrane or are secreted. A total of 35 human and 61 mouse Ly6 family members have been identified. Depending on which tissues they are expressed in, LY6 family members have different roles. They are expressed in various types of tissues and their expression dependent on the stage of cell differentiation. For example, they are involved in cell proliferation, cell migration, cell–cell interactions, immune cell maturation, macrophage activation, and cytokine production. Their overexpression or dysregulation, for example due to point mutations, is associated with tumorogenesis and autoimmune diseases. This family was discovered in the 1970s, and these proteins are still used as markers of distinct stage of leukocyte differentiation.
Nipa‐Like Domain‐Containing 4, also known as NIPAL4 or Ichthyin, is a gene that is predicted to code for a transmembrane protein with nine transmembrane domains. NIPAL4 codes for the protein magnesium transporter NIPA4, which acts as a Mg2+
transporter.
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