Gene table of RBP3 : retinol binding protein 3

Gene-disease associations table

Disease IDDisease nameSource of annotation with RBP3OMIM linkNumber of associated genesgenes
PS268000RETINITIS PIGMENTOSAClinVar, OMIM, HUMSAVAR link to OMIM 69PDE6A, MAK, FSCN2, DHDDS, RHO, RP9, CNGA1, CRB1, SLC7A14, BEST1, CERKL, PRPF3, C8orf37, PROM1, TOPORS, PRPH2, PRCD, SNRNP200, IMPG2, PDE6B, IDH3B, RGR, TTC8, GUCA1B, CDHR1, PANK2, RDH12, BBS2, MERTK, RP1L1, NEK2, USH2A, ZNF408, LRAT, C2orf71, MYO7A, KLHL7, IMPDH1, ZNF513, RP1, NR2E3, PDE6G, ROM1, CYGB, ARL6, NRL, RPGR, PRPF4, RP2, IFT172, HGSNAT, TULP1, CNGB1, KIZ, EYS, OFD1, RPE65, PRPF6, FAM161A, RBP3, IFT140, PRPF8, ABCA4, CLRN1, PRPF31, SAG, CA4, CRX, SEMA4A

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Annotation of the gene RBP3

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
The retinoid cycle in cones (daylight vision)R-HSA-218733510.4
Signal TransductionR-HSA-1625821.78
Visual phototransductionR-HSA-21873386.44
The canonical retinoid cycle in rods (twilight vision)R-HSA-24539028.52
Associated GO terms for Molecular function
GO termGO IDGO IC
hydrolase activityGO:00167871.9
serine hydrolase activityGO:00171714.26
alcohol bindingGO:00431785.53
isoprenoid bindingGO:00198406.05
lipid bindingGO:00082893.26
vitamin bindingGO:00198425.34
retinol bindingGO:00198417.17
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
peptidase activity, acting on L-amino acid peptidesGO:00700113.26
bindingGO:00054880.18
peptidase activityGO:00082333.23
retinal bindingGO:00169187.1
retinoid bindingGO:00055016.1
serine-type peptidase activityGO:00082364.27