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Rabbit Anti-Aspartate beta hydroxylase antibody
Aspartyl/asparaginyl beta-hydroxylase (ASPH) is a widely-expressed type II membrane protein involved in calcium homeostasis. Located in the endoplasmic reticulum, ASPH specifically hydroxylates an Asp or Asn residue in the epidermal growth factor-like (EGF) domains of several proteins, using iron as a cofactor. The ASPH gene encodes 3 proteins, ASPH, Junctin, and Junctate (or Humbug), that differ significantly in their SLCterminal domains. These ASPH gene products are expressed as five transcript variants that differ by their roles in calcium storage and release, hydroxylation capabilities, and tissue specificity. While all ASPH variants are expressed in skeletal muscle, only some are detected in heart, brain, pancreas, placenta, lung, liver, and kidney tissues. In the lumen of the endoplasmic reticulum, ASPH can be processed into two different forms.
Function:
ASPH is thought to play an important role in calcium homeostasis. Alternative splicing of this gene results in five transcript variants which vary in protein translation, the coding of catalytic domains, and tissue expression. Variation among these transcripts impacts their functions which involve roles in the calcium storage and release process in the endoplasmic and sarcoplasmic reticulum as well as hydroxylation of aspartic acid and asparagine in epidermal growth factor like domains of various proteins.
Subunit:
Monomer (By similarity). Isoform 8 interacts with ORAI1 and STIM1.
Subcellular Location:
Isoform 1: Endoplasmic reticulum membrane; Single-pass type II membrane protein.
Isoform 8: Endoplasmic reticulum membrane; Single-pass type II membrane protein.
Tissue Specificity:
Isoform 1 is detected in all tissues tested. Isoform 8 is mainly expressed in pancreas, heart, brain, kidney and liver. Isoform 8 is expressed in kidney (at protein level).
Similarity:
Endoplasmic reticulum; endoplasmic reticulum membrane; Single-pass type II membrane protein.
SWISS:
Q12797
Gene ID:
444
Database links:
Entrez Gene: 444 Human
Omim: 600582 Human
SwissProt: Q12797 Human
Unigene: 332422 Human
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