KEGG   Homo sapiens (human): 56623
Entry
56623             CDS       T01001                                 
Symbol
INPP5E, CORS1, CPD4, JBTS1, MORMS, PPI5PIV, pharbin
Name
(RefSeq) inositol polyphosphate-5-phosphatase E
  KO
K20278  inositol polyphosphate 5-phosphatase INPP5E [EC:3.1.3.36]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00562  Inositol phosphate metabolism
hsa01100  Metabolic pathways
hsa04070  Phosphatidylinositol signaling system
Disease
H00530  Joubert syndrome and related disorders
H02899  Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00562 Inositol phosphate metabolism
    56623 (INPP5E)
 09130 Environmental Information Processing
  09132 Signal transduction
   04070 Phosphatidylinositol signaling system
    56623 (INPP5E)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.3  Phosphoric-monoester hydrolases
    3.1.3.36  phosphoinositide 5-phosphatase
     56623 (INPP5E)
SSDB
Motif
Pfam: Exo_endo_phos2 Exo_endo_phos
Other DBs
NCBI-GeneID: 56623
NCBI-ProteinID: NP_063945
OMIM: 613037
HGNC: 21474
Ensembl: ENSG00000148384
UniProt: Q9NRR6
Structure
LinkDB
Position
9:complement(136428619..136439845)
AA seq 644 aa
MPSKAENLRPSEPAPQPPEGRTLQGQLPGAPPAQRAGSPPDAPGSESPALACSTPATPSG
EDPPARAAPIAPRPPARPRLERALSLDDKGWRRRRFRGSQEDLEARNGTSPSRGSVQSEG
PGAPAHSCSPPCLSTSLQEIPKSRGVLSSERGSPSSGGNPLSGVASSSPNLPHRDAAVAG
SSPRLPSLLPPRPPPALSLDIASDSLRTANKVDSDLADYKLRAQPLLVRAHSSLGPGRPR
SPLACDDCSLRSAKSSFSLLAPIRSKDVRSRSYLEGSLLASGALLGADELARYFPDRNVA
LFVATWNMQGQKELPPSLDEFLLPAEADYAQDLYVIGVQEGCSDRREWETRLQETLGPHY
VLLSSAAHGVLYMSLFIRRDLIWFCSEVECSTVTTRIVSQIKTKGALGISFTFFGTSFLF
ITSHFTSGDGKVAERLLDYTRTVQALVLPRNVPDTNPYRSSAADVTTRFDEVFWFGDFNF
RLSGGRTVVDALLCQGLVVDVPALLQHDQLIREMRKGSIFKGFQEPDIHFLPSYKFDIGK
DTYDSTSKQRTPSYTDRVLYRSRHKGDICPVSYSSCPGIKTSDHRPVYGLFRVKVRPGRD
NIPLAAGKFDRELYLLGIKRRISKEIQRQQALQSQNSSTICSVS
NT seq 1935 nt   +upstreamnt  +downstreamnt
atgccgtccaaggcggagaatctgcggccctccgagccggccccgcagccgccggaaggg
aggacgctccaaggacagcttcccggcgctccgccggcccagcgcgcggggtccccaccc
gatgctccgggctccgagagccccgcgcttgcctgcagcactccggccacgcccagcggc
gaggacccgccagcccgagcagcacccatcgccccgcggccccccgccaggcctcgactg
gagcgagccctgtccctggacgacaagggctggaggaggaggcgttttcgaggcagccag
gaggacctggaagcccggaatgggaccagtccctccaggggctcagtgcagagcgagggc
cccggggcccccgcccacagctgctccccgccctgcctgagcacctccttgcaggaaatc
cccaagtcccgcggggtcctgagcagtgagagagggagcccgtcctcggggggtaaccct
ctctctggggtggccagcagctccccgaacctcccgcacagagacgccgccgtggcgggg
agctcgcccaggctgcccagcctgctgcccccgcgcccaccgcctgccctgagcctggac
atcgcctccgactccctgaggacagcaaacaaggtcgactcggatcttgcagactacaag
ctccgcgcgcagccgctcctggtgcgggcccacagcagcctgggccccggccggccgcgg
agccccctggcctgcgacgactgttcccttcgctcggccaaatcctccttcagcctcctg
gcgcccatccgcagcaaggacgtccgcagcaggagttacctggagggcagcctcctggcc
agcggggccctgttgggggcggatgagctggcccgctacttcccagaccggaacgtggca
ctcttcgtggccacctggaacatgcagggccagaaggagctcccgcccagcctggacgag
ttcctgctcccagccgaggccgactatgcccaggacctgtatgtcatcggggtccaggag
ggctgttctgacaggcgggagtgggagactcgtctgcaggagacgctgggcccgcactat
gtgctgctgtcctcggcggcccacggcgtgctctacatgtcgctcttcatccgcagggac
ctcatctggttctgctcagaggtggagtgctccacggtgaccacacgcatcgtgtctcag
atcaagaccaagggggccttgggcatcagcttcaccttttttggcacttccttcctcttc
atcacgtcccacttcacctcaggtgacgggaaggtggcggagcggctgctggactacacc
aggactgtacaagccctggtcctgcccagaaatgtgcccgacaccaacccctatcgctcc
agcgcagcggacgtcaccacccgcttcgatgaggtgttctggtttggagacttcaacttc
cgcctgagtggcgggcgcacagtcgtggacgccctcctgtgccagggcctggtggtggac
gtgccggcgctgctgcagcacgaccagctcatccgggagatgcggaaagggtccatcttc
aagggcttccaggagccggacatccacttcctcccatcatacaagtttgacatcgggaag
gacacgtacgacagcacctccaagcagaggacgccctcatacacggaccgcgtcttgtac
agaagccgccacaagggtgacatctgtcctgtgagctactcttcctgccccgggatcaag
acgtccgaccaccgccctgtgtatggcctcttccgggtgaaagtgaggccggggcgagac
aacattccgttggcagctggcaaatttgatagagaactgtacttactaggaattaaaaga
cggatttcgaaggagattcagaggcagcaagcactacagagtcagaactccagcaccatc
tgctccgtttcttga

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