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Description for Protein ASPH

aspartate beta-hydroxylase
2 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(membrane: 1; platelet: 1)
Summary:
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] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    1.14.11.16
    KEGG - Orthology:
    K00476
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Aspartate beta-hydroxylase isoform c; Aspartate beta-hydroxylase isoform d; Aspartate beta-hydroxylase isoform b; Aspartate beta-hydroxylase isoform e; BAH; HAAH; AAH; Junctin; Humbug; Junctate; ASP beta-hydroxylase; AspH; Peptide-aspartate beta-dioxygenase; Aspartyl/asparaginyl-beta-hydroxylase; Aspartate beta-hydroxylase isoform a
    Approved Symbol:
    ASPH
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 9
    Human (de-) phosphorylation sites: 9; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • L-Aspartic Acid(db);
  • Succinic acid(db)

    Associated Genetic Diseases:

    None Available
    		• Predicted Transmembrane Domains:
  • Isoform 5 : 1
  • Isoform 4 : 1
  • Isoform 3 : 1
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 08996 Entrez Gene ID: 444 OMIM ID: 600582 Swissprot Accession: Q6NXR7; B7ZM96; Q12797;