Homo sapiens (human): 56623
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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)
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GFIT
Motif
Pfam:
Exo_endo_phos2
Exo_endo_phos
Motif
Other DBs
NCBI-GeneID:
56623
NCBI-ProteinID:
NP_063945
OMIM:
613037
HGNC:
21474
Ensembl:
ENSG00000148384
UniProt:
Q9NRR6
Structure
PDB
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Position
9:complement(136428619..136439845)
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AA seq
644 aa
AA seq
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MPSKAENLRPSEPAPQPPEGRTLQGQLPGAPPAQRAGSPPDAPGSESPALACSTPATPSG
EDPPARAAPIAPRPPARPRLERALSLDDKGWRRRRFRGSQEDLEARNGTSPSRGSVQSEG
PGAPAHSCSPPCLSTSLQEIPKSRGVLSSERGSPSSGGNPLSGVASSSPNLPHRDAAVAG
SSPRLPSLLPPRPPPALSLDIASDSLRTANKVDSDLADYKLRAQPLLVRAHSSLGPGRPR
SPLACDDCSLRSAKSSFSLLAPIRSKDVRSRSYLEGSLLASGALLGADELARYFPDRNVA
LFVATWNMQGQKELPPSLDEFLLPAEADYAQDLYVIGVQEGCSDRREWETRLQETLGPHY
VLLSSAAHGVLYMSLFIRRDLIWFCSEVECSTVTTRIVSQIKTKGALGISFTFFGTSFLF
ITSHFTSGDGKVAERLLDYTRTVQALVLPRNVPDTNPYRSSAADVTTRFDEVFWFGDFNF
RLSGGRTVVDALLCQGLVVDVPALLQHDQLIREMRKGSIFKGFQEPDIHFLPSYKFDIGK
DTYDSTSKQRTPSYTDRVLYRSRHKGDICPVSYSSCPGIKTSDHRPVYGLFRVKVRPGRD
NIPLAAGKFDRELYLLGIKRRISKEIQRQQALQSQNSSTICSVS
NT seq
1935 nt
NT seq
+upstream
nt +downstream
nt
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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