Recombinant Human CCA tRNA nucleotidyltransferase 1, mitochondrial (TRNT1)

中文名稱：

人TRNT1重組蛋白
貨號：

CSB-YP836282HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人TRNT1重組蛋白
貨號：

CSB-EP836282HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人TRNT1重組蛋白
貨號：

CSB-EP836282HU-B
說明書：

MSDS Datasheet
規格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：

人TRNT1重組蛋白
貨號：

CSB-BP836282HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人TRNT1重組蛋白
貨號：

CSB-MP836282HU
說明書：

MSDS Datasheet
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

TRNT1
Uniprot No.：

Q96Q11
別名：

TRNT1; CGI-47; CCA tRNA nucleotidyltransferase 1; mitochondrial; EC 2.7.7.72; Mitochondrial tRNA nucleotidyl transferase; CCA-adding; mt CCA-adding enzyme; mt tRNA CCA-diphosphorylase; mt tRNA CCA-pyrophosphorylase; mt tRNA adenylyltransferase
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein
表達區域：

42-434
氨基酸序列

TEGLKSLTE LFVKENHELR IAGGAVRDLL NGVKPQDIDF ATTATPTQMK EMFQSAGIRM INNRGEKHGT ITARLHEENF EITTLRIDVT TDGRHAEVEF TTDWQKDAER RDLTINSMFL GFDGTLFDYF NGYEDLKNKK VRFVGHAKQR IQEDYLRILR YFRFYGRIVD KPGDHDPETL EAIAENAKGL AGISGERIWV ELKKILVGNH VNHLIHLIYD LDVAPYIGLP ANASLEEFDK VSKNVDGFSP KPVTLLASLF KVQDDVTKLD LRLKIAKEEK NLGLFIVKNR KDLIKATDSS DPLKPYQDFI IDSREPDATT RVCELLKYQG EHCLLKEMQQ WSIPPFPVSG HDIRKVGISS GKEIGALLQQ LREQWKKSGY QMEKDELLSY IKKT
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產品提供形式：

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.
復溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

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

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：

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：

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

Please contact us to get it.

產品評價

靶點詳情

功能：

Adds and repairs the conserved 3'-CCA sequence necessary for the attachment of amino acids to the 3' terminus of tRNA molecules, using CTP and ATP as substrates.; Adds 2 C residues (CC-) to the 3' terminus of tRNA molecules instead of a complete CCA end as isoform 1 does (in vitro).
基因功能參考文獻：
1. In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity. PMID: 29454993
2. patient-specific induced pluripotent stem cells (iPSCs) and iPSC-derived retinal organoids from dermal fibroblasts of patients with molecularly confirmed TRNT1-associated retinitis pigmentosa. PMID: 28390992
3. Data show that the disease causing mutations in patient-derived fibroblasts do not affect subcellular localization of TRNT1 and show no gross morphological differences when compared to control cells. PMID: 27317422
4. family expands the ocular and systemic phenotypes associated with mutations in TRNT1, demonstrating phenotypic variability and highlighting the need for ophthalmic review of these patients. PMID: 27389523
5. two non-syndromic retinitis pigmentosa pedigrees with segregating mutations in TRNT1 PMID: 26494905
6. The clinical phenotypes associated with TRNT1 mutations are largely due to impaired mitochondrial translation, resulting from defective CCA addition to mitochondrial tRNA(Ser(AGY)). PMID: 25652405
7. A model of action is proposed, where motif C forms a flexible spring element modulating the relative orientation of the enzyme's head and body domains to accommodate the growing 3'-end of the tRNA. PMID: 25849199
8. The discriminator base represents an important substrate recognition element for tRNA nucleotidyltransferases. PMID: 25958396
9. Tandem CCA addition is not the result of a modified enzymatic activity that is particular to unstable RNAs. Rather, it is a consequence of the natural activity of the CCA-adding enzyme on a substrate with increased conformational flexibility, the CCA-adding enzyme is able to trigger the degradation of potentially detrimental small RNAs and tRNAs. PMID: 25640237
10. The patient-associated TRNT1 mutations result in partial loss of function of TRNT1 and lead to metabolic defects in both the mitochondria and cytosol, which can account for the phenotypic pleiotropy. PMID: 25193871
11. human gene transcript CGI-47 (#AF151805) was cloned and encodes a bona fide CCA-adding enzyme and not a poly(A) polymerase. PMID: 11727826
12. The crystal structure reveals a four domain architecture with a cluster of conserved residues forming a positively charged cleft between the first two domains. PMID: 12729736
13. These findings strongly suggest that the splice variant of the human CCA-adding enzyme is expressed in the cell although the in vivo function remains unclear. PMID: 17204286
14. is a RNA polymerase which newly adds CCA sequence to tRNA 3'terminal. This reaction was named as Vice-Anchored Knock-in and Lock Dynamics.[review] PMID: 18575231
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相關疾病：

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD); Retinitis pigmentosa and erythrocytic microcytosis (RPEM)
亞細胞定位：

Mitochondrion.
蛋白家族：

TRNA nucleotidyltransferase/poly(A) polymerase family
數據庫鏈接：

HGNC: 17341

OMIM: 612907

KEGG: hsa:51095

STRING: 9606.ENSP00000251607

UniGene: Hs.732725