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

Code
MSDS
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Source
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
TOR1AIP1
Uniprot NO.
Species
Homo sapiens (Human)
Source
Yeast
Protein Length
Partial
Tag Info
N-terminal His-tagged/Tag-Free
Storage
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.
Shelf Life
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.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Description

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Target Background

Function
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.
Gene References into Functions
  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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Subcellular Location
Nucleus inner membrane; Single-pass membrane protein.
Protein Families
TOR1AIP family
Tissue Specificity
Expressed in muscle, liver and kidney.
Database Links

HGNC: 29456

UNIGENE: Hs.496459

KEGG: hsa:26092

STRING: 9606.ENSP00000393292

OMIM: 614512

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