Recombinant Human Serine Protease Inhibitor Kazal-Type 5 (SPINK5) Protein (His-GST&Myc)

Name: Recombinant Human Serine Protease Inhibitor Kazal-Type 5 (SPINK5) Protein (His-GST&Myc)
Brand: Beta LifeScience
SKU: BLC-01028P
Availability: InStock

Greater than 85% as determined by SDS-PAGE.

Collections: High-quality recombinant proteins, Other recombinant proteins

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Product Overview

Description	Recombinant Human Serine Protease Inhibitor Kazal-Type 5 (SPINK5) Protein (His-GST&Myc) is produced by our E.coli expression system. This is a protein fragment.
Purity	Greater than 85% as determined by SDS-PAGE.
Uniprotkb	Q9NQ38
Target Symbol	SPINK5
Synonyms	(Lympho-epithelial Kazal-type-related inhibitor)(LEKTI)
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-10His-GST&C-Myc
Target Protein Sequence	TRESDPVRDADGKSYNNQCTMCKAKLEREAERKNEYSRSRSNGTGSESGKDTCDEFRSQMKNGKLICTRESDPVRGPDGKTHGNKCTMCKEKLEREAAEKKKKEDEDRSNTGERSNTGERSNDKED
Expression Range	722-847aa
Protein Length	Partial of Isoform l
Mol. Weight	49.5 kDa
Research Area	Cell Biology
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the activity of defense-activating and desquamation-involved proteases. Inhibits KLK5, it's major target, in a pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin.
Subcellular Location	Secreted.
Database References	HGNC: 15464 OMIM: 256500 KEGG: hsa:11005 STRING: 9606.ENSP00000352936 UniGene: Hs.331555
Associated Diseases	Netherton syndrome (NETH)
Tissue Specificity	Highly expressed in the thymus and stratum corneum. Also found in the oral mucosa, parathyroid gland, Bartholin's glands, tonsils, and vaginal epithelium. Very low levels are detected in lung, kidney, and prostate.

Gene Functions References

SPINK5 gene R654H might be a risk factor for epidermal barrier dysfunction in some Japanese AD patients. PMID: 29926005
Early-onset atopic dermatitis was associated with rs2303067 in SPINK5, which is involved in skin barrier functioning, and late-onset was associated with rs4950928 in CHI3L1, which is involved in the immune response. Future studies should examine the early- versus late-onset subgrouping more closely PMID: 28681574
report, for the first time, association between SPINK5 variant rs9325071 and challenge-proven IgE-mediated food allegy PMID: 28213955
impaired KLK7 secretion from lamellar granules and increased LEKTI expression could underlie the insufficient activation of KLK in atopic dermatitis. PMID: 27769847
This report discloses a prevalent SPINK5 founder mutation in Finland and illustrates Netherton syndrome phenotype variability PMID: 26865388
New mutation leading to the full variety of typical features of the Netherton syndrome. PMID: 26031502
The results suggest that SPINK5 and ADRB2 haplotypes might play a role in the susceptibility to childhood-onset asthma PMID: 25233048
The effect of GATA3 on SPINK5 expression was indirect and GATA3 alone was insufficient for final differentiation of keratinocytes where full SPINK5 expression was observed. PMID: 24894987
these results support epistasis between SPINK5 and TSLP, which contributes to childhood asthma. PMID: 24831437
Netherton syndrome is caused by mutations in SPINK5, which encodes the serine protease inhibitor LEKTI. PMID: 24577329
Herein we report three patients with Netherton syndrome who had growth retardation associated with GH deficiency and responded well to GH therapy. PMID: 24015757
mesotrypsin contributes to the desquamation process by activating KLKs and degrading the intrinsic KLKs' inhibitor LEKTI PMID: 24390132
The E420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation. PMID: 22730493
major binding partners of LEKTI were found to be the antimicrobial peptide dermcidin and the serine protease cathepsin G and no kallikreins. PMID: 22588119
Our study represents the first identification of a Netherton disease-causing SPINK5 mutation that alters splicing without affecting canonical splice sites. PMID: 22377713
the SPINK5 gene polymorphisms was found not to be associated with atopic dermatitis (AD) in regard to either serum IgE levels, concurrent allergic asthma or early onset of AD PMID: 21585560
Lowered SPINK5 protein expression might be a contributing factor for the development of chronic rhinosinusitis. PMID: 22570283
Distinct SPINK5 and IL-31 gene variants (SNPs) were associated with the development of atopic eczema and non-atopic hand dermatitis in Taiwanese nurses. PMID: 22017185
New SPINK5 defects in 12 patients, who presented a clinical triad suggestive of Netherton syndrome with variations in inter- and intra-familial disease expression were disclosed. PMID: 22089833
The novel mutation, p.Gln333X, in the SPINK5 gene, is responsible for a mild Netherton syndrome phenotype in a Turkish pedigree. PMID: 21564178
Six SNPs (rs17718511, rs17860502, KN0001820, rs60978485, rs17718737, and rs1422985) and the haplotype TAA (rs60978485, rs6892205, rs2303064) in the SPINK5 gene were associated with atopic dermatitis in Koreans. PMID: 21087323
Caspase 14 has been implicated as a novel target of LEKTI, which has the potential to act as both a serine and a cysteine protease inhibitor. PMID: 20533828
study reports two male siblings affected by Netherton syndrome, which resulted from a previously undescribed splicing mutation in SPINK5 PMID: 20107740
Highly significant associations were detected between SPINK5 single nucleotide polymorphisms and visible eczema (but not IgE levels) and between IL13 variants and total IgE. PMID: 20085599
Even though the number of investigated subjects was small and hydrolytic activity was only slightly increased, the results denote that LEKTI might be diminished in atopic dermatitis PMID: 19522716
SPINK5's role in atopic dermatitis and skin diseases is described PMID: 11796258
the intron-exon organization of the gene and characterize the spink5 mutations. five mutations, one of which resulted in perinatal lethal disease, were associated with ethnic groups PMID: 11841556
the defective inhibitory regulation of desquamation due to SPINK5 gene mutations may cause over-desquamation of corneocytes in Netherton syndrome, leading to severe skin permeability barrier dysfunction. PMID: 11874482
This is a multidomain serine proteinase inhibitor with physiopathological significance. PMID: 11943586
REVIEW: molecular cloning, characterization of the gene, tissue distribution, congenital disases associated with mutations PMID: 12437098
LETKI proteolytic processing was studied in cultured keratinocytes as well as its tissue distribution and defective expression in Netherton syndrome. PMID: 12915442
There is an association between polymorphisms in the SPINK5 gene and atopic dermatitis in the Japanese. PMID: 14551605
LEKTI deficiency in the epidermis and in hair roots at the protein level and an aberrant expression of other proteins, especially transglutaminase1 and 3, which may account for the impaired epidermal barrier in Netherton syndrome PMID: 15304086
The sequence from Leu32 to Ile38 of a chimeric double-mutant domain 1 of LEKTI is a chameleon sequence that converts a short 3(10)-helix into an extended loop conformation and parts of the COOH-terminal alpha-helix of domain 1 into a beta-hairpin. PMID: 15366933
deficiency is related to epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin PMID: 15466487
in normal skin the LG system transports and secretes LEKTI earlier than KLK7 and KLK5 preventing premature loss of stratum corneum integrity/cohesion. PMID: 15675955
We showed that LEKTI is a potent inhibitor of a family of serine proteinases involved in extracellular matrix remodeling and its expression is downregulated in head and neck squamous cell carcinomas. PMID: 15680911
Homozygous frameshift mutation in SPINK5 associated with Netherton syndrome. PMID: 15942217
Variable amounts of SPINK5 alternative transcripts are detected in all SPINK5 transcriptionally active tissues. PMID: 16374478
Mutations in SPINK5 encoding the serine protease (SP) inhibitor, lymphoepithelial-Kazal-type 5 inhibitor (LEKTI), cause Netherton syndrome (NS). SP activation correlated with clinical severity, and inversely with residual LEKTI expression. PMID: 16601670
Uniparental disomy of maternal SPINK5 allele was indicated in the mutation analysis of two Taiwanese patients with Netherton syndrome. PMID: 17415575
These results identify KLK5, a key actor of the desquamation process, as the major target of LEKTI. PMID: 17596512
LEKTI domain 15 is a functional Kazal-type proteinase inhibitor. PMID: 17936012
SPINK5 mutations, causing NS, lead to truncated LEKTI; each Netherton syndrome patient possesses LEKTI of a different length, depending on the location of mutations PMID: 17989726
study in children and adults with atopic dermatitis found that an association with SPINK5 E420K SNP was not confirmed. However, this was associated with high IgE serum levels (p=0.011). PMID: 17989887
SPINK5 (LEKTI) protein was detected in sinonasal tissue and was significantly decreased in polyp samples using IHC. PMID: 18588753
SPINK5 mutation confers a risk of eczema when maternally inherited but is not a major eczema risk factor; no interaction between the SPINK5 risk allele or the putative KLK7 risk allele and FLG mutations ws found PMID: 18774391
reduced expression of LEKTI and increased expression of SCCE and SCTE in human epidermal keratinocytes after UVB irradiation may contribute to desquamation of the stratum corneum. PMID: 19118981
Haploinsufficiency of SPINK5 can cause the Netherton syndrome phenotype in the presence of one null mutation with homozygous G1258A polymorphisms in SPINK5, and this could impair the function of LEKTI and therefore acts as a true mutation. PMID: 19438860
-206G>A polymorphism in the SPINK5 is associated with asthma susceptibility in a Chinese Han population PMID: 19534795

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