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Symbol ASPH contributors: mct/npt/pgu - updated : 09-05-2016
HGNC name aspartate beta-hydroxylase
HGNC id 757
Corresponding disease
FDLAB facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
Location 8q12.3      Physical location : 62.413.115 - 62.627.199
Synonym name
  • junctin, calsequestrin binding protein
  • peptide-aspartate beta-dioxygenase
  • humbug
  • junctate
  • A beta H-J-J
  • cardiac junctin
  • Synonym symbol(s) HAAH, BAH, JCTN, CASQ2BP1, JCN, AAH, FDLAB, junctin, JCT
    TYPE functioning gene
    STRUCTURE 214.08 kb     25 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D8S507 - RAB2 - D8S260 - D8S510 - qter
    Authors GeneMap (98)
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 5349 - 758 widely expressed among heart, placenta, skeletal muscle, kidney, and lung tissues 2015 26446257
    also called ASPH-FL
    6 splicing 3287 26 225 only in cardiac and skeletal muscle 2015 26446257
    also called ASPHIe, junctin isoform 1
    14 splicing 3792 33 313 placenta, brain, heart, lung, kidney, skeletal muscle 2015 26446257
    also called ASPHIc
    5 splicing 3242 - 210 cardiac and skeletal muscle 2015 26446257
    also called ASPHId, variant 4, junctin
    15 - 3642 - 299 heart, brain, pancreas, placenta, lung, liver, kidney, skeletal muscle 2015 26446257
    also called ASPHIb, Variant 2,junctate
    - - 5203 - 729 - 2015 26446257
    - - 3639 - 298 - 2015 26446257
    - - 3582 - 279 - 2015 26446257
  • isoform 8
  • targeting STIM1 to ER-plasma-membrane contacts upon Ca(2+)-store depletion
  • - - 3735 - 294 - 2015 26446257
    - - 1712 - 203 - 2015 26446257
    - - 3513 - 256 - 2015 26446257
    - - 3663 - 270 - 2015 26446257
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    cell lineage
    cell lines
    at STAGE
    physiological period pregnancy
    Text placenta
  • extended N-terminus with potential transmembrane (TM ) type II signal anchor domain directing the catalytic domain into the endoplasmic reticulum, N terminus comprising &
  • 8764;26 amino acids (a truncation of these AAs prevents junctional accumulation of ASPH)
  • a Ca(2+)-binding EF-hand motif
  • a compact C terminus catalytic domain, and Ca2+-sensing role of junctate was demonstrated after uncovering an EF-hand domain in the ER-luminal region, in its C terminus
  • mono polymer monomer
    interspecies homolog to murine Asph
    intraspecies homolog to TRDN
  • aspartyl/asparaginyl beta-hydroxylase family
  • CATEGORY enzyme , structural protein , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
  • potentially cleaved into a 56kDa protein in the lumen of ER
  • with SERCA2 co-localized in the sarcoplasmic reticulum of cardiomyocytes
  • intra-sarcoplasmic reticulum (SR) protein
  • inserted into the membrane of the sarcoplasmic reticulum (SR) Ca(2+) store where it modifies Ca(2+) signalling in the heart and skeletal muscle
  • basic FUNCTION
  • potentially involved in divalent cation binding and protein-protein interaction for a number of vitamin K dependent proteins, like proC, F7, F9, F10, complement factors C1R, C1S
  • may play an important role in the regulation of SR Ca(2+) cycling through the interaction with ATP2A2 in the murine heart
  • SR membrane protein, which is part of the SR Ca(2+) release quaternary structure that also includes the ryanodine receptor, triadin and calsequestrin
  • serves as a bridge between calsequestrin and the Ca(2+) release channel, ryanodine receptor
  • involved in calcium homeostasis with calsquestrin, triadin, ryanodine receptor
  • involved in calcium homeostasis in eukaryotic cells
  • essential factor in maintaining normal cardiac Ca handling and cardiac function
  • triadin and junctin are integral sarcoplasmic reticulum membrane proteins that form a macromolecular complex with the skeletal muscle ryanodine receptor (RYR1)
  • has a role in maintaining sarcoplasmic reticulum Ca2+ store size in myotubes
  • ASPH and TRDN each activate skeletal ryanodine receptors but ASPH alone mediates functional interactions with CASQ1
  • normally acts as an activator of RYR channels at low luminal [Ca(2+)], and as an inhibitor at high luminal [Ca(2+)]
  • Ca2+-sensing ER protein, and structural component of the ER-PM junctions where ORAI1 and STIM1 cluster and interact in T cells
  • cell surface protein that catalyzes the hydroxylation of epidermal growth factor (EGF)-like repeats in Notch receptors and ligands
  • mediates an alternative mechanism for generating localized Ca(2+) elevations within cells, promoting Ca(2+) release from internal stores recruited to phagosomes, thereby boosting phagocytosis
  • CELLULAR PROCESS protein, post translation
    text hydroxylation of ASP or ASN in EGF-like domains of several proteins
    metabolism aminoacid
    a component
  • CASQ2, TRDN and ASPH form a protein complex that is associated with cardiac ryanodine receptor 2 (RYR2) SR Ca(2+) release channels
  • forms a quaternary protein complex with the ryanodine receptor, calsequestrin, and triadin in the SR lumen of cardiac muscle
  • indirect role for triadin in regulating myoplasmic Ca(2+) homeostasis and organizing the molecular complex of the triad but not in regulating skeletal-type excitation-contraction coupling
  • Ca(2+)-sensing ER protein, and is a structural component of the ER-plasma membrane junctions where ORAI1 and STIM1 cluster and interact in T cells
  • plays an additional role in STIM1 recruitment by defining the ER-PM junctions for clustering of ORAI1 and STIM1 in a Ca2+-dependent manner
  • mediates an alternative mechanism for generating localized Ca(2+) elevations within cells, promoting Ca(2+) release from internal stores recruited to phagosomes, thereby boosting phagocytosis
    small molecule metal binding,
  • iron Fe2+
  • protein
  • interacting with ATP2A2 (binding of the C-terminal region of junctate (AAs 79-270) and luminal domain of ATP2A2 (AAs 70-89)
  • constant interactions between CASQ2 and ASPH, regardless of the SR Ca(2+) concentration, implying that ASPH is an essential component of the CASQ2 scaffold
  • ASPH is an interacting partner of ORAI1-STIM1 complex
  • TRDN and ASPH are structurally related transmembrane proteins thought to be key mediators of structural and functional interactions between calsequestrin (CASQ1) and ryanodine receptor (RyRs) at the junctional sarcoplasmic reticulum
  • C-terminal domain of ASPH binds to residues including the S1-S2 linker of RYR1 and N-terminal domain of ASPH binds between RYR1 residues 1078 and 2156
  • cell & other
    corresponding disease(s) FDLAB
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in hepatocellular carcinoma
    constitutional     --low  
    may contribute to Ca(2+) cycling perturbations manifest in the failing heart
    constitutional     --over  
    leads to a severe cardiac remodeling and arrhythmias
    tumoral     --over  
    highly overexpressed in pancreatic cancer
    Variant & Polymorphism
    Candidate gene
    Therapy target