MuScle-logoMuScle - Molecule ID B0470

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
PADBCS: Cell shape (cytoskeleton, cell adhesion, morphology, cell junction, cellular structures, extracellular matrix)

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valuePubMed/DOI
Exp20136355Homo sapiens50Blood RRMS_(rIFN-Beta-1b_24_month_follow-up) (Multiple sclerosis)0.840.0410855120136355
Exp22021740Homo sapiens27Blood MS (Multiple sclerosis)0.904.23E-0222021740
Exp22021740Homo sapiens27Blood MS (Multiple sclerosis)1.421.74E-0322021740
Exp22252466AHomo sapiens13BloodCD34+ HPCRRMS_SPMS (Multiple sclerosis)0.630.0012122252466
Exp22252466AHomo sapiens13BloodCD34+ HPCRRMS_SPMS (Multiple sclerosis)0.800.030554822252466
Exp22252466AHomo sapiens16BloodCD34+/CD34- HPCRRMS_SPMS (Multiple sclerosis)1.353.88E-0322252466
Exp22252466AHomo sapiens16BloodCD34+/CD34- HPCRRMS_SPMS (Multiple sclerosis)1.591.08E-0322252466
Exp22252466AHomo sapiens16BloodCD34+/CD34- HPCRRMS_SPMS (Multiple sclerosis)1.902.29E-0922252466
Exp22252466AHomo sapiens16BloodCD34+/CD34- HPCRRMS_SPMS (Multiple sclerosis)2.503.53E-0522252466
Exp22491253Homo sapiens7Blood RRMS_(High_Sema4A) (Multiple sclerosis)5.860.0199872922491253
Exp22491253Homo sapiens7Blood RRMS_(Low_Sema4A) (Multiple sclerosis)0.350.045662522491253

Compile date 09-07-2016© MuScle project