Recombinant Human Kinesin-like protein KIF1A (KIF1A), partial

中文名稱：

人KIF1A重組蛋白
貨號：

CSB-YP622509HU
規(guī)格：
來源：

Yeast
其他：

中文名稱：

人KIF1A重組蛋白
貨號：

CSB-EP622509HU
規(guī)格：
來源：

E.coli
其他：

中文名稱：

人KIF1A重組蛋白
貨號：

CSB-EP622509HU-B
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KIF1A重組蛋白
貨號：

CSB-BP622509HU
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

人KIF1A重組蛋白
貨號：

CSB-MP622509HU
規(guī)格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

KIF1A
Uniprot No.：

Q12756
別名：

ATSV; Axonal transporter of synaptic vesicles; C2orf20; HSN2C; hUnc 104; hUnc-104; hunc104; Kif1a; KIF1A related protein; KIF1A_HUMAN; Kinesin family member 1A; Kinesin heavy chain member 1A homolog of mouse; kinesin like protein; kinesin like protein KIF1A; Kinesin-like protein KIF1A; Microtubule based motor; Microtubule based motor KIF1A; Microtubule-based motor KIF1A; MRD9; SPG30; Unc 104 and KIF1A related protein; Unc 104; Unc-104- and KIF1A-related protein; UNC104
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
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：

Motor for anterograde axonal transport of synaptic vesicle precursors. Also required for neuronal dense core vesicles (DCVs) transport to the dendritic spines and axons. The interaction calcium-dependent with CALM1 increases vesicle motility and interaction with the scaffolding proteins PPFIA2 and TANC2 recruits DCVs to synaptic sites.
基因功能參考文獻：
1. We report a child with a de novo KIF1A gene mutation who was found to have bilateral optic nerve hypoplasia and atrophy. PMID: 28985824
2. BORC and Arl8 function upstream of two structurally distinct kinesin types: kinesin-1 (KIF5B) and kinesin-3 (KIF1Bbeta and KIF1A). PMID: 27851960
3. De novo missense variant affecting the motor domain of KIF1A was identified as a cause of PEHO syndrome. PMID: 26486474
4. Mutations outside the motor domain of the gene can cause (recessive) SPG30 and extends the genotype-phenotype association for KIF1A-related diseases. PMID: 28332297
5. This study further delineates clinical features of de novo KIF1A mutations PMID: 26354034
6. KIF1A variants in dominant and sporadic forms of hereditary spastic paraparesis. PMID: 26410750
7. KIF1A should be considered a candidate gene for hereditary paraplegias regardless of inheritance pattern. PMID: 25585697
8. Findings provide evidence that de novo missense mutations in the motor domain of KIF1A cause a more severe phenotype that overlaps with that associated with recessive mutations in the same gene. PMID: 25265257
9. Data demonstrated that KIF1A promoter methylation can distinguish breast cancer cases from controls in plasma and was inversely associated with DNA repair capacity. PMID: 24927296
10. This study establishes an essential role of the CC1-FHA dimer for KIF1A/unc-104-mediated neuronal transport. PMID: 23669038
11. Cytoplasmic dynein is active during minus- and plus-end directed motion, whereas kinesin is only active in the plus direction. PMID: 23404705
12. The CC1-FHA tandem likely functions as a hub for controlling the dimerization and activation of KIF1A. PMID: 22863567
13. mutations in the KIF1A gene are responsible for SPG30 in two autosomal recessive HSP families PMID: 22258533
14. The authors find that Arl8B is required for kinesin-1 recruitment to Salmonella-containing vacuoles, migration of the vacuoles to the cell periphery 24 h after infection and for cell-to-cell transfer of bacteria to neighbouring cells. PMID: 21824248
15. Mutations in KIF1A are a rare cause of hereditary sensory and autonomic neuropathy type 2. PMID: 21820098
16. A mutation in KIF1A is associated with a pure form of hereditary spastic paraparesis. (HSP) cases in a single inbred family. PMID: 21487076
17. Promoter hypermethylation of KIF1A and EDNRB is a frequent event in primary HNSCC, and these genes are preferentially methylated in salivary rinses from HNSCC patients. PMID: 20162572
18. KIF1A mediates neuronal transport at a high velocity and processivity in vivo PMID: 12435738
19. Results suggest that the intramolecular FHA-CC2 interaction negatively regulates KIF1A activity by inhibiting MT binding and dimerization of KIF1A, and point to a novel role of the FHA domain in the regulation of kinesin motors. PMID: 15014437
20. cryo-electron microscopy structures of the monomeric kinesin KIF1A-microtubule complex in two nucleotide states at about 10 A resolution, sufficient to reveal the secondary structure PMID: 16946706
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相關疾病：

Spastic paraplegia 30, autosomal recessive (SPG30); Neuropathy, hereditary sensory, 2C (HSN2C); Mental retardation, autosomal dominant 9 (MRD9)
亞細胞定位：

Cytoplasm, cytoskeleton. Cell projection, neuron projection. Cell projection, axon. Cytoplasm, perinuclear region. Cell junction, synapse. Cytoplasmic vesicle, secretory vesicle, neuronal dense core vesicle membrane; Peripheral membrane protein; Cytoplasmic side.
蛋白家族：

TRAFAC class myosin-kinesin ATPase superfamily, Kinesin family, Unc-104 subfamily
組織特異性：

Expressed in neurons.
數據庫鏈接：

HGNC: 888

OMIM: 601255

KEGG: hsa:547

STRING: 9606.ENSP00000322791

UniGene: Hs.516802