KEGG   Homo sapiens (human): 5147
Entry
5147              CDS       T01001                                 
Symbol
PDE6D, JBTS22, PDED
Name
(RefSeq) phosphodiesterase 6D
  KO
K13758  retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta
Organism
hsa  Homo sapiens (human)
Pathway
hsa00230  Purine metabolism
hsa01100  Metabolic pathways
Disease
H00530  Joubert syndrome and related disorders
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09104 Nucleotide metabolism
   00230 Purine metabolism
    5147 (PDE6D)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    5147 (PDE6D)
Membrane trafficking [BR:hsa04131]
 Protein recycling
  Rab GTPases and associated proteins
   Other Rab GTPase associated proteins
    5147 (PDE6D)
SSDB
Motif
Pfam: GMP_PDE_delta
Other DBs
NCBI-GeneID: 5147
NCBI-ProteinID: NP_002592
OMIM: 602676
HGNC: 8788
Ensembl: ENSG00000156973
UniProt: O43924 Q6IB24
Structure
Position
2:complement(231732433..231781282)
AA seq 150 aa
MSAKDERAREILRGFKLNWMNLRDAETGKILWQGTEDLSVPGVEHEARVPKKILKCKAVS
RELNFSSTEQMEKFRLEQKVYFKGQCLEEWFFEFGFVIPNSTNTWQSLIEAAPESQMMPA
SVLTGNVIIETKFFDDDLLVSTSRVRLFYV
NT seq 453 nt   +upstreamnt  +downstreamnt
atgtcagccaaggacgagcgggccagggagatcctgaggggcttcaaactaaattggatg
aaccttcgggatgctgagacagggaagatactctggcaaggaacagaagacctgtctgtc
cctggtgtggagcatgaagcccgtgttcccaagaaaatcctcaagtgcaaggcagtgtct
cgagaacttaatttttcttcgacagaacaaatggaaaaattccgcctggaacaaaaagtt
tacttcaaagggcaatgcctagaagaatggttcttcgagtttggctttgtgatccctaac
tccacaaatacctggcagtccttgatagaggcagcacccgagtcccagatgatgccagca
agcgtcttaactgggaacgttatcatagaaacaaagttttttgacgacgatcttcttgta
agcacatccagagtgagacttttctatgtttga

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