Recombinant Human Uncharacterized protein KIAA0586 (KIAA0586), partial

中文名稱：

人KIAA0586重組蛋白
貨號：

CSB-YP874820HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Yeast
其他：

中文名稱：

人KIAA0586重組蛋白
貨號：

CSB-EP874820HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

E.coli
其他：

中文名稱：

人KIAA0586重組蛋白
貨號：

CSB-EP874820HU-B
說明書：

MSDS Datasheet
規(guī)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KIAA0586重組蛋白
貨號：

CSB-BP874820HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

人KIAA0586重組蛋白
貨號：

CSB-MP874820HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評價
靶點(diǎn)詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

KIAA0586
Uniprot No.：

Q9BVV6
別名：

KIAA0586; TALPID3; Protein TALPID3
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
蛋白標(biāo)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(chǎn)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(fù)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(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：

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 ：

Please contact us to get it.

產(chǎn)品評價

靶點(diǎn)詳情

功能：

Required for ciliogenesis and sonic hedgehog/SHH signaling. Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. May play a role in early ciliogenesis in the disappearance of centriolar satellites that preceeds ciliary vesicle formation. Involved in regulation of cell intracellular organization. Involved in regulation of cell polarity. Required for asymmetrical localization of CEP120 to daughter centrioles.
基因功能參考文獻(xiàn)：
1. In the absence of PCM1, Mib1 destabilizes Talpid3 through poly-ubiquitylation and suppresses cilium assembly. PMID: 27146717
2. biallelic deleterious mutations in KIAA0586 lead to Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. PMID: 26386044
3. The authors demonstrate KIAA0586 protein localization at the basal body in human and mouse photoreceptors, as is common for Joubert syndrome proteins, and also in pericentriolar locations. PMID: 26386247
4. we show that biallelic KIAA0586 mutations are associated with relatively mild JS in square2.5% of families with JS. PMID: 26096313
5. Intersection of this data with whole exome results from 145 individuals with unexplained Joubert syndrome identified six families with predominantly compound heterozygous mutations in KIAA0586. PMID: 26026149
6. Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome. PMID: 26166481
7. Talpid3 and Cep290 play overlapping and distinct roles in ciliary vesicle formation through regulation of centriolar satellite accretion and Rab8a PMID: 24421332
8. The chicken ortholog functions in regulation of the Gli repressor and activator proteins in the Hedgehog signaling pathway. PMID: 16702409
顯示更多

收起更多
相關(guān)疾病：

Joubert syndrome 23 (JBTS23); Short-rib thoracic dysplasia 14 with polydactyly (SRTD14)
亞細(xì)胞定位：

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Photoreceptor inner segment. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body.
蛋白家族：

TALPID3 family
組織特異性：

Ubiquitously expressed. Expressed in photoreceptor cells (at protein level).
數(shù)據(jù)庫鏈接：

HGNC: 19960

OMIM: 610178

KEGG: hsa:9786

UniGene: Hs.232532