Recombinant Human Prolyl 3-hydroxylase 2 (LEPREL1)

中文名稱：

人P3H2重組蛋白
貨號：

CSB-YP815555HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人P3H2重組蛋白
貨號：

CSB-EP815555HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人P3H2重組蛋白
貨號：

CSB-EP815555HU-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P3H2重組蛋白
貨號：

CSB-BP815555HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人P3H2重組蛋白
貨號：

CSB-MP815555HU
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：

P3H2
Uniprot No.：

Q8IVL5
別名：

4832416N06; AW553532; Leprecan like 1; Leprecan-like protein 1; Leprel1; MCVD; MLAT4; Myxoid liposarcoma-associated protein 4; P3H2; P3H2_HUMAN; Prolyl 3 hydroxylase 3; Prolyl 3-hydroxylase 2
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein
表達區域：

25-708
氨基酸序列

GPPDSP RRELELEPGP LQPFDLLYAS GAAAYYSGDY ERAVRDLEAA LRSHRRLREI RTRCARHCAA RHPLPPPPPG EGPGAELPLF RSLLGRARCY RSCETQRLGG PASRHRVSED VRSDFQRRVP YNYLQRAYIK LNQLEKAVEA AHTFFVANPE HMEMQQNIEN YRATAGVEAL QLVDREAKPH MESYNAGVKH YEADDFEMAI RHFEQALREY FVEDTECRTL CEGPQRFEEY EYLGYKAGLY EAIADHYMQV LVCQHECVRE LATRPGRLSP IENFLPLHYD YLQFAYYRVG EYVKALECAK AYLLCHPDDE DVLDNVDYYE SLLDDSIDPA SIEAREDLTM FVKRHKLESE LIKSAAEGLG FSYTEPNYWI RYGGRQDENR VPSGVNVEGA EVHGFSMGKK LSPKIDRDLR EGGPLLYENI TFVYNSEQLN GTQRVLLDNV LSEEQCRELH SVASGIMLVG DGYRGKTSPH TPNEKFEGAT VLKALKSGYE GRVPLKSARL FYDISEKARR IVESYFMLNS TLYFSYTHMV CRTALSGQQD RRNDLSHPIH ADNCLLDPEA NECWKEPPAY TFRDYSALLY MNDDFEGGEF IFTEMDAKTV TASIKPKCGR MISFSSGGEN PHGVKAVTKG KRCAVALWFT LDPLYRELER IQADEVIAIL DQEQQGKHEL NINPKDEL
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：

Prolyl 3-hydroxylase that catalyzes the post-translational formation of 3-hydroxyproline on collagens. Contributes to proline 3-hydroxylation of collagen COL4A1 and COL1A1 in tendons, the eye sclera and in the eye lens capsule. Has high activity with the type IV collagen COL4A1, and lower activity with COL1A1. Catalyzes hydroxylation of the first Pro in Gly-Pro-Hyp sequences where Hyp is 4-hydroxyproline. Has no activity on substrates that lack 4-hydroxyproline in the third position.
基因功能參考文獻：
1. Data identified an enhancer region within the TP63/LEPREL1 locus containing genetic variants associated with bladder cancer risk. PMID: 29956121
2. Recessive LEPREL1 mutations should be recognized as part of the differential diagnosis of lens subluxation. PMID: 25469533
3. LEPREL1 plays an important role in eye development and homozygous loss-of-function mutation of this gene can cause severely high myopia and early-onset cataract. PMID: 24172257
4. mutation in LRPAP1 is associated with high myopia. Further studies are expected to evaluate the pathogenicity of the variants in CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2. PMID: 25525168
5. High myopia is caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2. PMID: 21885030
6. P3H2 has preferred substrate sequences among the classes of 3Hyp sites in clade A collagen chains PMID: 21757687
7. P3H2 is responsible for the hydroxylation of collagen IV, which has the highest 3-hydroxyproline content of all collagens. It is thus possible that P3H2 mutations may lead to a disease with changes in basement membranes. PMID: 18487197
8. The restriction of silencing in P3H2 to breast carcinomas, and its association with oestrogen-receptor-positive cases, suggests that P3H2 may be a breast-cancer-specific tumour suppressor. PMID: 19436308
顯示更多

收起更多
相關疾病：

Myopia, high, with cataract and vitreoretinal degeneration (MCVD)
亞細胞定位：

Endoplasmic reticulum. Sarcoplasmic reticulum. Golgi apparatus.
蛋白家族：

Leprecan family
組織特異性：

Expression localized to the epithelia of bile ducts and to the sacroplasm of heart muscle and skeletal muscle. In the pancreas, localized to a subpopulation of Langerhans islet cells and in the salivary gland, expressed in acinar cells (at protein level).
數據庫鏈接：

HGNC: 19317

OMIM: 610341

KEGG: hsa:55214

STRING: 9606.ENSP00000316881

UniGene: Hs.374191