CKDdb-logoCKDdb - Molecule ID A767B

geneABCR, ABCA4
nameRetinal-specific ATP-binding cassette transporter
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
ABCA4_HUMANP78363ENSG0000019869124Hs.416707153800, 248200, 601691, 601718, 604116

Functions and classifications

GOC:integral component of plasma membrane, C:photoreceptor disc membrane, F:ATP binding, F:ATPase activity, coupled to transmembrane movement of substances, F:phospholipid-translocating ATPase activity, P:phospholipid transfer to membrane, P:phospholipid translocation, P:photoreceptor cell maintenance, P:phototransduction, visible light, P:retinoid metabolic process, P:visual perception, F:ATPase activity, P:ATP catabolic process, P:visual perception, C:integral to plasma membrane, C:plasma membrane
UniProtAge-related macular degeneration, ATP-binding, Complete proteome, Cone-rod dystrophy, Disease mutation, Disulfide bond, Glycoprotein, Membrane, Nucleotide-binding, Polymorphism, Reference proteome, Repeat, Retinitis pigmentosa, Sensory transduction, Stargardt disease, Transmembrane, Transmembrane helix, Transport, Vision
PADBtransport, storage, endocytosis, exocytosis, vesicles

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valueDetectionPubMed/DOI
Exp19698090bHomo sapiens25bloodmononuclear cellsDialysis (hemodialysis)0.360.0198RNA microarray19698090
Exp23757392aRattus norvegicus17kidneywholeDiabetes (diabetic nephropathy)0.35< 0.05RNA-seq23757392
Exp24172336Mus musculus6kidneycortexAKI (AKI)0.940.022973399LC-MS/MS24172336

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