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- Table of Contents
Facts about Aspartyl/asparaginyl beta-hydroxylase.
Human | |
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Gene Name: | ASPH |
Uniprot: | Q12797 |
Entrez: | 444 |
Belongs to: |
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aspartyl/asparaginyl beta-hydroxylase family |
AAH; ASP beta-hydroxylase; aspartate beta-hydroxylaseA beta H-J-J; aspartyl/asparaginyl-beta-hydroxylase; BAH; cardiac junctin; CASQ2BP1; EC 1.14.11.16; HAAHaspartyl/asparaginyl beta-hydroxylase; humbug; JCTN; junctate; junctin; Peptide-aspartate beta-dioxygenase
Mass (kDA):
85.863 kDA
Human | |
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Location: | 8q12.3 |
Sequence: | 8; NC_000008.11 (61500556..61714640, complement) |
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).
[Isoform 1]: Endoplasmic reticulum membrane; Single-pass type II membrane protein.; [Isoform 4]: Sarcoplasmic reticulum membrane; Single-pass type II membrane protein.; [Isoform 8]: Endoplasmic reticulum membrane; Single-pass type II membrane protein.
PMID: 7821814 by Korioth F., et al. Cloning and characterization of the human gene encoding aspartyl beta-hydroxylase.
PMID: 8823296 by Lavaissiere L., et al. Overexpression of human aspartyl(asparaginyl)beta-hydroxylase in hepatocellular carcinoma and cholangiocarcinoma.