Aspartate beta hydroxylase (ASPH) (NM_032468) Human Recombinant Protein

• 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_032468

• 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:

  33.6 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_115857

• Overview:

  Recombinant protein of human aspartate beta-hydroxylase (ASPH), transcript variant 2

• 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_032468

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_115857