CKDdb-logoCKDdb - Molecule ID A5840

geneASPH
nameJunctin
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
ASPH_HUMANQ12797ENSG00000198363444Hs.332422600582

Functions and classifications

GOC:calcium channel complex, C:cortical endoplasmic reticulum, C:endoplasmic reticulum membrane, C:integral component of endoplasmic reticulum membrane, C:integral component of membrane, C:junctional sarcoplasmic reticulum membrane, C:plasma membrane, C:sarcoplasmic reticulum lumen, F:calcium ion binding, F:electron carrier activity, F:ion channel binding, F:peptide-aspartate beta-dioxygenase activity, F:structural constituent of muscle, P:activation of cysteine-type endopeptidase activity, P:activation of store-operated calcium channel activity, P:calcium ion transmembrane transport, P:cellular response to calcium ion, P:detection of calcium ion, P:face morphogenesis, P:limb morphogenesis, P:muscle contraction, P:negative regulation of cell proliferation, P:palate development, P:pattern specification process, P:peptidyl-aspartic acid hydroxylation, P:positive regulation of calcium ion transport into cytosol, P:positive regulation of intracellular protein transport, P:positive regulation of proteolysis, P:positive regulation of ryanodine-sensitive calcium-release channel activity, P:positive regulation of transcription, DNA-templated, P:regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, P:regulation of cell communication by electrical coupling, P:regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity, P:regulation of protein depolymerization, P:regulation of protein stability, P:response to ATP, C:membrane, C:cortical endoplasmic reticulum, C:integral to endoplasmic reticulum membrane, F:oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen, P:negative regulation of ryanodine-sensitive calcium-release channel activity, P:positive regulation of transcription, DNA-dependent, P:regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, P:peptidyl-amino acid modification
UniProt3D-structure, Alternative splicing, Calcium, Complete proteome, Dioxygenase, Endoplasmic reticulum, Glycoprotein, Iron, Membrane, Metal-binding, Oxidoreductase, Polymorphism, Reference proteome, Repeat, Signal-anchor, TPR repeat, Transmembrane, Transmembrane helix
PADBenzyme, enzymatic properties

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valueDetectionPubMed/DOI
Exp19698090bHomo sapiens25bloodmononuclear cellsDialysis (hemodialysis)0.340.0409RNA microarray19698090
Exp19698090bHomo sapiens25bloodmononuclear cellsDialysis (hemodialysis)2.620.000578RNA microarray19698090
Exp23935909Homo sapiens24bloodmonocytesChronic_Renal_Insufficiency (Chronic kidney disease)0.240.0107399RNA microarray23935909
Exp26317775bHomo sapiens8kidneybiopsy specimensChronic_Renal_Insufficiency (CKD)0.330.013999RNA microarray26317775

Compile date 08-10-2018© iMODE-CKD consortium