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Recombinant human AP-2 complex subunit sigma protein

Recombinant human AP-2 complex subunit sigma protein

Code
MSDS	MSDS Datasheet
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Source
Conjugate
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Target Background

Product Details

Purity

>85% (SDS-PAGE)

Target Names

AP2S1

Uniprot NO.

P53680

Research Area

Transport

Alternative Names

Adapter-related protein complex 2 sigma subunit; Adaptor protein complex AP 2 subunit sigma; Adaptor protein complex AP-2 subunit sigma; Adaptor protein complex AP2 subunit sigma; Adaptor related protein complex 2 sigma 1 subunit; AI043088; AP 17; AP 2 complex subunit sigma 1; AP-2 complex subunit sigma; AP17; AP17 delta; AP2 complex subunit sigma 1; Ap2s1; AP2S1_HUMAN; CLAPS 2; CLAPS2; Clathrin adaptor complex AP2; sigma subunit; Clathrin adaptor protein AP17; Clathrin assembly protein 2 small chain; Clathrin associated/assembly/adaptor protein small 2; Clathrin associated/assembly/adaptor protein small 2; 17-KD; Clathrin associated/assembly/adaptor protein; small 2 (17kD); Clathrin coat assembly protein AP17; Clathrin coat associated protein AP17; Clathrin coat-associated protein AP17; HA2 17 kDa subunit; MGC62945; Plasma membrane adaptor AP 2 17 kDa protein; Plasma membrane adaptor AP-2 17 kDa protein; Plasma membrane adaptor AP2 17 kDa protein; Sigma adaptin 3b; Sigma2 adaptin; Sigma2-adaptin

Species

Homo sapiens (Human)

Source

Yeast

Expression Region

1-142aa

Target Protein Sequence

MIRFILIQNRAGKTRLAKWYMQFDDDEKQKLIEEVHAVVTVRDAKHTNFVEFRNFKIIYRRYAGLYFCICVDVNDNNLAYLEAIHNFVEVLNEYFHNVCELDLVFNFYKVYTVVDEMFLAGEIRETSQTKVLKQLLMLQSLE
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.

Mol. Weight

44.4kD

Protein Length

Full length

Tag Info

N-terminal His-tagged/Tag-Free
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.

Storage Condition

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

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

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Target Background

Function(From Uniprot)

Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein Transport via Transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif. May also play a role in extracellular calcium homeostasis.

Gene References into Functions

In 33 CASR-negative patients with suspected FHH, Data found two (~6%) with a mutation in AP2S1 (p.Arg15Leu and p.Arg15His). Family screening confirmed the genotype-phenotype correlations. Data did not identify any pathogenic mutations in GNA11. PMID:27913609
our studies demonstrate AP2sigma2 mutations to result in a more severe FHH phenotype with genotype-phenotype correlations, and a dominant-negative mechanism of action with mutational bias at the Arg15 residue. PMID:26082470
The results affirm that a significant number of patients suspected of having Familial hypocalciuric hypercalcemia but proven negative for CASR mutation have AP2S1 p.R15 mutations. PMID:24731014
The absence of AP2S1 abnormalities in hypocalcemic patients, suggests that autosomal dominant hypocalcemia 3 (ADH3) may not occur or otherwise represents a rare hypocalcemic disorder. PMID:24708097
None of the 60 patients presented with nucleotidic changes or copy number variation in the AP2S1 gene, thereby excluding AP2S1 defects as a frequent cause of isolated hypoparathyroidism. PMID:24423332
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. PMID:23222959