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