CKDdb-logoCKDdb - Molecule ID A5444

geneBBS9, PTHB1, B1
nameParathyroid hormone-responsive B1 gene protein
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
PTHB1_HUMANQ3SYG4ENSG0000012250727241Hs.372360209900, 607968, 601583

Functions and classifications

GOC:BBSome, C:ciliary membrane, C:cytoplasm, C:microtubule organizing center, C:nucleus, C:plasma membrane, P:cell projection organization, P:fat cell differentiation, P:protein transport, P:response to stimulus, P:visual perception, C:cilium membrane
UniProtAlternative splicing, Bardet-Biedl syndrome, Cell membrane, Cell projection, Chromosomal rearrangement, Ciliopathy, Cilium, Cilium biogenesis/degradation, Complete proteome, Cytoplasm, Cytoskeleton, Disease mutation, Membrane, Mental retardation, Obesity, Polymorphism, Protein transport, Reference proteome, Sensory transduction, Transport, Vision
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)2.020.037648RNA microarray19698090
Exp19845401Mus musculus32eyesretinaDiabetes (diabetic retinopathy)2.89< 0.05LC-MS/MS19845401
Exp24569379Mus musculus kidneyendothelial cellsAKI (AKI)0.360.000000474RNA microarray24569379
Exp26317775bHomo sapiens8kidneybiopsy specimensChronic_Renal_Insufficiency (CKD)0.160.013999RNA microarray26317775

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