Recombinant Human Torsin-1A-interacting protein 1 (TOR1AIP1)

in vitro E.coli expression system

中文名稱：

人TOR1AIP1重組蛋白
貨號：

CSB-CF711452HU
說明書：

MSDS Datasheet
規格：
來源：

in vitro E.coli expression system
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

基因名：

TOR1AIP1
Uniprot No.：

Q5JTV8
別名：

TOR1AIP1; LAP1; Torsin-1A-interacting protein 1; Lamin-associated protein 1B; LAP1B
種屬：

Homo sapiens (Human)
蛋白長度：

full length protein
表達區域：

1-583
氨基酸序列

MAGDGRRAEAVREGWGVYVTPRAPIREGRGRLAPQNGGSSDAPAYRTPPSRQGRREVRFS DEPPEVYGDFEPLVAKERSPVGKRTRLEEFRSDSAKEEVRESAYYLRSRQRRQPRPQETE EMKTRRTTRLQQQHSEQPPLQPSPVMTRRGLRDSHSSEEDEASSQTDLSQTISKKTVRSI QEAPVSEDLVIRLRRPPLRYPRYEATSVQQKVNFSEEGETEEDDQDSSHSSVTTVKARSR DSDESGDKTTRSSSQYIESFWQSSQSQNFTAHDKQPSVLSSGYQKTPQEWAPQTARIRTR MQNDSILKSELGNQSPSTSSRQVTGQPQNASFVKRNRWWLLPLIAALASGSFWFFSTPEV ETTAVQEFQNQMNQLKNKYQGQDEKLWKRSQTFLEKHLNSSHPRSQPAILLLTAARDAEE ALRCLSEQIADAYSSFRSVRAIRIDGTDKATQDSDTVKLEVDQELSNGFKNGQNAAVVHR FESFPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEETLGTSLGLKEVEEKVRDFLKVKF TNSNTPNSYNHMDPDKLNGLWSRISHLVLPVQPENALKRGICL
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal 10xHis-tagged
產品提供形式：

Liquid or Lyophilized powder Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
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.
緩沖液：

Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
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：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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 & COA：

Please contact us to get it.

產品評價

靶點詳情

功能：

Required for nuclear membrane integrity. Induces TOR1A and TOR1B ATPase activity and is required for their location on the nuclear membrane. Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina.
基因功能參考文獻：
1. LAP1 protein encoded by TOR1AIP1 may play a role in dysferlinopathy pathogenesis PMID: 28110863
2. LAP1 co-localizes with acetylated alpha-tubulin in the mitotic spindle and with gamma-tubulin in centrosomes (main microtubule organizing center) in mitotic cells. PMID: 25323962
3. Data show that mutation of arginine 563 in lamina-associated polypeptide 1 (LAP1) reduces its ability to stimulate TorsinA ATPase hydrolysis. PMID: 25149450
4. study described a new autosomal recessive nuclear envelope disease caused by a homozygous mutation in exon 1 of TOR1AIP1 encoding LAP1B; study expands the spectrum of genes associated with nuclear envelopathies and highlights critical function for LAP1B in striated muscle PMID: 24856141
5. Data indicate that the protein phosphatase 1 (PP1) binding domain in nuclear membrane protein lamina associated polypeptide 1B (LAP1B) was here identified as the REVRF motif at amino acids 55-59. PMID: 24116158
6. Molecular cloning of LAP1B & the role of the protein domains in localization of LAP1B to nuclear and endoplasmic reticulum membranes was determined PMID: 12061773
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相關疾病：

Limb-girdle muscular dystrophy 2Y (LGMD2Y)
亞細胞定位：

Nucleus inner membrane; Single-pass membrane protein.
蛋白家族：

TOR1AIP family
組織特異性：

Expressed in muscle, liver and kidney.
數據庫鏈接：

HGNC: 29456

OMIM: 614512

KEGG: hsa:26092

STRING: 9606.ENSP00000393292

UniGene: Hs.496459