Recombinant Human Transmembrane protease serine 3 (TMPRSS3)

in vitro E.coli expression system

中文名稱(chēng)：

人TMPRSS3重組蛋白
貨號(hào)：

CSB-CF023925HU
說(shuō)明書(shū)：

MSDS Datasheet
規(guī)格：
來(lái)源：

in vitro E.coli expression system
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

基因名：

TMPRSS3
Uniprot No.：

P57727
別名：

TMPRSS3; ECHOS1; TADG12; UNQ323/PRO382; Transmembrane protease serine 3; Serine protease TADG-12; Tumor-associated differentially-expressed gene 12 protein
種屬：

Homo sapiens (Human)
蛋白長(zhǎng)度：

full length protein
表達(dá)區(qū)域：

1-454
氨基酸序列

MGENDPPAVEAPFSFRSLFGLDDLKISPVAPDADAVAAQILSLLPLKFFPIIVIGIIALILALAIGLGIHFDCSGKYRCRSSFKCIELIARCDGVSDCKDGEDEYRCVRVGGQNAVLQVFTAASWKTMCSDDWKGHYANVACAQLGFPSYVSSDNLRVSSLEGQFREEFVSIDHLLPDDKVTALHHSVYVREGCASGHVVTLQCTACGHRRGYSSRIVGGNMSLLSQWPWQASLQFQGYHLCGGSVITPLWIITAAHCVYDLYLPKSWTIQVGLVSLLDNPAPSHLVEKIVYHSKYKPKRLGNDIALMKLAGPLTFNEMIQPVCLPNSEENFPDGKVCWTSGWGATEDGAGDASPVLNHAAVPLISNKICNHRDVYGGIISPSMLCAGYLTGGVDSCQGDSGGPLVCQERRLWKLVGATSFGIGCAEVNKPGVYTRVTSFLDWIHEQMERDLKT
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標(biāo)簽：

N-terminal 10xHis-tagged
產(chǎn)品提供形式：

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
緩沖液：

Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
儲(chǔ)存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質(zhì)期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項(xiàng)：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA：

Please contact us to get it.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

功能：

Probable serine protease that plays a role in hearing. Acts as a permissive factor for cochlear hair cell survival and activation at the onset of hearing and is required for saccular hair cell survival. Activates ENaC (in vitro).
基因功能參考文獻(xiàn)：
1. TMPRSS3 contributed to gastric cancer progression via activation of the PI3K/Akt/ERK signaling pathway. PMID: 30142546
2. Pathogenic variants in the TMPRSS3 gene in a cohort of 2247 subjects with sensorineural hearing loss represented 13 different rare TMPRSS3 variants, nine of which were novel. PMID: 28566687
3. knockdown of TMPRSS3 inhibits proliferation, migration, and invasion in human nasopharyngeal carcinoma cells through the inactivation of the PI3K/Akt signaling pathway. This study suggests that TMPRSS3 may be a potential therapeutic target for the treatment of nasopharyngeal carcinoma PMID: 28409556
4. For those with a combination of severely pathogenic TMPRSS3 variants, rapid aggravation of the residual hearing should be anticipated and treated accordingly. Our confirmation of the genotype-phenotype correlation of the TMPRSS3 gene may pave the way for the establishment of a personalized auditory rehabilitation. PMID: 29072634
5. Our results indicate that mutations in TMPRSS3 account for about 4.6% (7/151) of Chinese autosomal recessive nonsyndromic hearing loss cases lacking mutations in SLC26A4 or GJB2 and that the recurrent TMPRSS3 mutation p.Ala306Thr is likely to be a founder mutation. PMID: 28695016
6. Given that a previous paper suggested TMPRSS3 and GJB2 genes as responsible for a digenic form of hearing loss, our data support and reinforce this hypothesis. PMID: 28263784
7. In conclusion, TMPRSS3 and TNFRSF11B may have potential prognostic value to be used as tumor biomarkers in breast cancer patients. PMID: 28260080
8. different combinations of TMPRSS3 mutations led to different hearing impairment phenotypes (DFNB8/DFNB10) in the Chinese family. PMID: 28246597
9. TMPRSS3 mutations seem to be an important cause of autosomal recessive nonsyndromic hearing loss in Slovenia resulting in rather uniform phenotype with profound congenital hearing loss. PMID: 26036852
10. Study demonstrated that TMPRSS3 contributes to ovarian cancer cell proliferation, invasion and metastasis, probably via activation of the ERK1/2 signaling pathway. PMID: 26531004
11. TMPRSS3 expression is an independent prognostic factor for breast cancer patients. Bioinformatic analysis of potential TMPRSS3 binding proteins revealed that TMPRSS3 could be a key regulator of cancer pathways. PMID: 26191247
12. Low expression levels of hepsin and TMPRSS3 are associated with poor breast cancer survival PMID: 26014348
13. Single nucleotide polymorphisms in TMPRSS3 (rs3814903 and rs11203200) are significantly associated with breast cancer risk. PMID: 25029565
14. homozygous mutation TMPRSS3: c.535G>A causes prelingual hearing loss in this Tibetan family PMID: 25474651
15. The prevalence of TMPRSS3 mutations among Korean postlingual hearing loss is 8.3 %. The p.A306T variant of TMPRSS3 is the common founder allele in Koreans. A novel variant, p.T248M of TMPRSS3, was predicted to have milder pathogenicity. PMID: 24526180
16. Description of the spectrum of mutations in TMPRSS3 in 374 families with autosomal recessive, non-syndromic hearing loss from India. PMID: 24416283
17. Association between TMPRSS3 genotypes and phenotype variants in autosomal recessive nonsyndromic hearing loss. PMID: 23958653
18. Six TMPRSS3 variants were found to cosegregate in 10 consanguineous Pakistani families with autosomal recessive non-syndromic hearing impairment. PMID: 21534946
19. Data imply that TMPRSS3-A/D overexpression in EOC is probably due to hypomethylation of their control region. PMID: 22446619
20. TMPRSS3 gene is not a major contributor to non-syndromic deafness in the Moroccan population. PMID: 22382023
21. Our data suggest that not only the protein truncating mutation p.T70fs has a severe effect but also the amino acid substitutions p.Ala306Thr and p.Val199Met. PMID: 21786053
22. TMPRSS3 mutations contribute to fewer than 1% of nonsyndromic childhood deafness in Caucasians. PMID: 11907649
23. The TMPRSS3 protein mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro PMID: 12393794
24. Disruption of the proteolytic activity of TMPRSS3 is tightly correlated with the pathogenesis of hearing loss. PMID: 12920079
25. Identification of mutations in TMPRSS3 in Pakistani families with recessive, nonsyndromic congenital deafness. PMID: 15447792
26. The mutant TMPRSS3 harboring the novel R216L missense mutation within the predicted cleavage site of the protein fails to undergo proteolytic cleavage and is unable to activate ENaC. PMID: 16021470
27. The identification of two novel pathogenic TMPRSS3 mutations (c.646C-->T - R216C; c.916G-->A - A306T) is described in four affected siblings of German origin with postlingual hearing loss, treated by bilateral cochlear implantation with good results. PMID: 17551081
28. TMPRSS3 mutations are not a common cause of hereditary deafness, but the elucidation of its function is nevertheless important for better understanding of hearing [review] PMID: 17981648
29. missense mutations in autosomal recessive sensorineural deafness PMID: 11462234
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相關(guān)疾病：

Deafness, autosomal recessive, 8 (DFNB8)
亞細(xì)胞定位：

Endoplasmic reticulum membrane; Single-pass type II membrane protein.
蛋白家族：

Peptidase S1 family
組織特異性：

Expressed in many tissues including fetal cochlea. Isoform T is found at increased levels in some carcinomas.
數(shù)據(jù)庫(kù)鏈接：

HGNC: 11877

OMIM: 601072

KEGG: hsa:64699

STRING: 9606.ENSP00000291532

UniGene: Hs.208600