Recombinant Human Dynein heavy chain 1, axonemal (DNAH1), partial

中文名稱：

人DNAH1重組蛋白
貨號：

CSB-YP878961HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Yeast
其他：

中文名稱：

人DNAH1重組蛋白
貨號：

CSB-EP878961HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

E.coli
其他：

中文名稱：

人DNAH1重組蛋白
貨號：

CSB-EP878961HU-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DNAH1重組蛋白
貨號：

CSB-BP878961HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

人DNAH1重組蛋白
貨號：

CSB-MP878961HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

DNAH1
Uniprot No.：

Q9P2D7
別名：

DNAH1; DHC7; DNAHC1; KIAA1410; Dynein heavy chain 1; axonemal; Axonemal beta dynein heavy chain 1; Ciliary dynein heavy chain 1; Heat shock regulated protein 1; HSRF-1; hDHC7
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：

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

靶點詳情

功能：

Force generating protein of cilia required for sperm flagellum motility. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required in spermatozoa for the formation of the inner dynein arms and biogenesis of the axoneme.
基因功能參考文獻(xiàn)：
1. DNAH1 variations were identified in 6 of 287 patients, including 8 heterozygous variations in exons and a splicing site. 4 variations (g.52400764G>C, g.52409336C>T, g.52430999_52431000del, g.52412624C>A) had already been registered in the 1000 Genomes and Exome Aggregation Consortium databases. The other novel variations (g.52418050del, g.52404762T>G, g.52430536del, g.52412620del) were all predicted to be pathogenic. PMID: 30544445
2. Pedigree analysis supported the notion that the combination of DNAH1 gene mutations 52430998CCT>C and 52409336C>T and 52428484G>T alone were associated with MMAF. CONCLUSION(S): These DNAH1 gene mutations may be associated with DFS and infertility in the Han population. PMID: 28577616
3. This mutation was distinct from previously reported DNAH1 mutations associated with MMAF and only affected the East Asian group. Furthermore, the variant DNAH1 protein could not be detected in spermatozoa by Western blot or immunofluorescence staining although DNAH1 mRNA was expressed in the spermatozoa. PMID: 27573432
4. variation in DNAH1 may play a role in primary ciliary dyskinesia PMID: 25927852
5. Although DNAH1 is expressed in other ciliated cells, infertility was the only symptom of primary ciliary dyskinesia observed in affected subjects, suggesting that DNAH1 function in cilium is not as critical as in sperm flagellum. PMID: 24360805
6. Male carriers of the mutations always exhibit asthenozoospermia, whereas female carriers manifest no alterations in either fertility or pulmonary clearance. PMID: 18492703
7. Dynein motor function is important for regulating Gag and viral RNA egress on endosomal membranes in the cytoplasm to directly impact on viral production. PMID: 19286658
8. clathrin serving as a regulator of SNX4-dependent transport; upon clathrin release, dynein may bind SNX4 and mediate retrograde movement PMID: 19529763
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相關(guān)疾病：

Spermatogenic failure 18 (SPGF18); Ciliary dyskinesia, primary, 37 (CILD37)
亞細(xì)胞定位：

Cytoplasm, cytoskeleton, cilium axoneme. Cell projection, cilium, flagellum.
蛋白家族：

Dynein heavy chain family
組織特異性：

Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also expressed in brain.
數(shù)據(jù)庫鏈接：

HGNC: 2940

OMIM: 603332

KEGG: hsa:25981

STRING: 9606.ENSP00000401514

UniGene: Hs.655469