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Aspartate beta hydroxylase (ASPH) (NM_001164755) Human Recombinant Protein

Product Specifications

Background

This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF) -like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]

Overview

Purified recombinant protein of Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 11.

Synonyms

AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN; junctin

Gene ID

444

UniProt

Q12797

Accession Number mRNA

NM_001164755

Chromosomal Location

8q12.3

Expression System

HEK293T

Tag

C-Myc/DDK

Concentration

>50 ug/mL as determined by microplate BCA method

Purity

> 80% as determined by SDS-PAGE and Coomassie blue staining

Form

Liquid

Buffer

25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

Function

Druggable Genome, Transmembrane

Molecular Weight

29.6 kDa

Storage Conditions

Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

Symbol

ASPH

Species

Human

Protein ID

NP_001158227

Gene ID URL

https://www.ncbi.nlm.nih.gov/gene/444

Uniprot URL

https://www.uniprot.org/uniprot/Q12797

Accession Number mRNA URL

https://www.ncbi.nlm.nih.gov/nuccore/NM_001164755

Protein ID Link

https://www.ncbi.nlm.nih.gov/nuccore/NP_001158227

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