CKDdb-logoCKDdb - Molecule ID A4561

geneAHI-1, AHI1
nameJouberin
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
AHI1_HUMANQ8N157ENSG0000013554154806Hs.386684608629, 608894

Functions and classifications

GOC:adherens junction, C:cell-cell junction, C:centriole, C:microtubule basal body, C:photoreceptor outer segment, C:TCTN-B9D complex, P:cellular protein localization, P:cilium assembly, P:cloaca development, P:heart looping, P:hindbrain development, P:Kupffer's vesicle development, P:left/right axis specification, P:morphogenesis of a polarized epithelium, P:negative regulation of apoptotic process, P:otic vesicle development, P:photoreceptor cell outer segment organization, P:positive regulation of polarized epithelial cell differentiation, P:positive regulation of receptor internalization, P:positive regulation of transcription from RNA polymerase II promoter, P:pronephric duct morphogenesis, P:pronephric nephron tubule morphogenesis, P:protein localization to organelle, P:regulation of behavior, P:retina layer formation, P:specification of axis polarity, P:transmembrane receptor protein tyrosine kinase signaling pathway, P:vesicle targeting, P:vesicle-mediated transport
UniProt3D-structure, Alternative splicing, Cell junction, Cell projection, Ciliopathy, Cilium, Cilium biogenesis/degradation, Coiled coil, Complete proteome, Cytoplasm, Cytoskeleton, Disease mutation, Joubert syndrome, Reference proteome, Repeat, SH3 domain, WD repeat
PADBCell shape (cytoskeleton, cell adhesion, morphology, cell junction, cellular structures, extracellular matrix)

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valueDetectionPubMed/DOI
Exp19698090aHomo sapiens17bloodmononuclear cellsChronic_Renal_Insufficiency (Chronic kidney disease)0.380.0094335RNA microarray19698090
Exp19698090bHomo sapiens25bloodmononuclear cellsDialysis (hemodialysis)0.290.0126RNA microarray19698090
Exp19698090bHomo sapiens25bloodmononuclear cellsDialysis (hemodialysis)0.40.00956RNA microarray19698090
Exp24172336Mus musculus6kidneycortexAKI (AKI)1.560.022973399LC-MS/MS24172336

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