PDE6D
entrez
5147
canonical
uniprot
O43924
canonical
ensembl
ENSG00000156973
resolver
ensp
ENSP00000287600
resolver
ensp
ENSP00000387108
resolver
enst
ENST00000287600
resolver
enst
ENST00000409772
resolver
genesymbol
PDE6D
resolver
genesymbol_syn
PDED
resolver
hgnc
HGNC:8788
resolver
uniprot
B8ZZK5
resolver
uniprot
O43250
resolver
uniprot
Q6IB24
resolver
uniprot_entry
B8ZZK5_HUMAN
resolver
uniprot_entry
PDE6D_HUMAN
resolver
uniprot_entry
Q6IB24_HUMAN
resolver
uniprot_sec
O43250
resolver
amino_acid_sequence
MSAKDERAREILRGFKLNWMNLRDAETGKILWQGTEDLSVPGVEHEARVPKKILKCKAVSRELNFSSTEQMEKFRLEQKVYFKGQCLEEWFFEFGFVIPNSTNTWQSLIEAAPESQMMPASVLTGNVIIETKFFDDDLLVSTSRVRLFYV
uniprot
proteins
disease_involvement
DISEASE: Joubert syndrome 22 (JBTS22) [MIM:615665]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. {ECO:0000269|PubMed:24166846}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Promotes the release of prenylated target proteins from cellular membranes (PubMed:9712853). Modulates the activity of prenylated or palmitoylated Ras family members by regulating their subcellular location (PubMed:22002721, PubMed:23698361). Required for normal ciliary targeting of farnesylated target proteins, such as INPP5E (PubMed:24166846). Required for RAB28 localization to the cone cell outer segments in the retina (By similarity). Modulates the subcellular location of target proteins by acting as a GTP specific dissociation inhibitor (GDI) (By similarity). Increases the affinity of ARL3 for GTP by several orders of magnitude. Stabilizes ARL3-GTP by decreasing the nucleotide dissociation rate (By similarity). {ECO:0000250|UniProtKB:O55057, ECO:0000269|PubMed:10518933, ECO:0000269|PubMed:22002721, ECO:0000269|PubMed:23559067, ECO:0000269|PubMed:23698361, ECO:0000269|PubMed:24166846, ECO:0000269|PubMed:9712853}.
uniprot
proteins
mass_dalton
17420
uniprot
proteins
protein_family
PDE6D/unc-119 family
uniprot
proteins
pubmed
10518933
uniprot
proteins
pubmed
11980706
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22002721
uniprot
proteins
pubmed
23559067
uniprot
proteins
pubmed
23698361
uniprot
proteins
pubmed
24166846
uniprot
proteins
pubmed
9533031
uniprot
proteins
pubmed
9570951
uniprot
proteins
pubmed
9712853
uniprot
proteins
pubmed
9781033
uniprot
proteins
pubmed
9990021
uniprot
proteins
sequence_length
150
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:22002721, ECO:0000269|PubMed:23698361, ECO:0000269|PubMed:9712853}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:9712853}; Peripheral membrane protein {ECO:0000269|PubMed:9712853}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:24166846}.
uniprot
proteins