Short Description: 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]. More information related to gene Aspartate beta Hydroxylase.
Products related to Aspartate beta Hydroxylase Gene:
Synonyms and alternative names related to Aspartate beta Hydroxylase
aspartate beta-hydroxylase (ASPH)
aspartate-beta-hydroxylase (Asph)
aspartate beta-hydroxylase (asph)
aspartate beta-hydroxylase L homeolog (asph.L)
aspartate beta-hydroxylase (Asph)
2310005F16Rik
3110001L23Rik
AAH
aah
AI848629
AW261690
AW561901
BAH
bah
C79816
CASQ2BP1
cb971
cI-37
fb69e10
fc06d04
fc95a08
HAAH
JCTN
jctn
junctin
MGC107896
wu:fb69e10
wu:fc06d04
wu:fc95a08
Gene-IDs for different species
Protein level used designations for Aspartate beta Hydroxylase
A beta H-J-J
ASP beta-hydroxylase
aspartyl/asparaginyl beta-hydroxylase
aspartyl/asparaginyl-beta-hydroxylase
cardiac junctin
humbug
junctate
peptide-aspartate beta-dioxygenase
aspartate beta-hydroxylase
aspartyl beta-hydroxylase
calsequestrin-binding protein
jumbug
junctin
junctional sarcoplasmic reticulum protein
Proteomics products related to Aspartate beta Hydroxylase Gene
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