KEGG   Homo sapiens (human): 4952Help
Entry
4952              CDS       T01001                                 

Gene name
OCRL, INPP5F, LOCR, NPHL2, OCRL-1, OCRL1
Definition
oculocerebrorenal syndrome of Lowe (EC:3.1.3.36)
Orthology
K01099  
phosphatidylinositol-bisphosphatase [EC:3.1.3.36]
Organism
hsa  Homo sapiens (human)
Pathway
Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Disease
H00692  
Lowe syndrome
H00694  
Dent disease
Class
Metabolism; Carbohydrate metabolism; Inositol phosphate metabolism [PATH:hsa00562]
Environmental Information Processing; Signal transduction; Phosphatidylinositol signaling system [PATH:hsa04070]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
Xq25
AA seq 901 aa AA seqDB search
MEPPLPVGAQPLATVEGMEMKGPLREPCALTLAQRNGQYELIIQLHEKEQHVQDIIPINS
HFRCVQEAEETLLIDIASNSGCKIRVQGDWIRERRFEIPDEEHCLKFLSAVLAAQKAQSQ
LLVPEQKDSSSWYQKLDTKDKPSVFSGLLGFEDNFSSMNLDKKINSQNQPTGIHREPPPP
PFSVNKMLPREKEASNKEQPKVTNTMRKLFVPNTQSGQREGLIKHILAKREKEYVNIQTF
RFFVGTWNVNGQSPDSGLEPWLNCDPNPPDIYCIGFQELDLSTEAFFYFESVKEQEWSMA
VERGLHSKAKYKKVQLVRLVGMMLLIFARKDQCRYIRDIATETVGTGIMGKMGNKGGVAV
RFVFHNTTFCIVNSHLAAHVEDFERRNQDYKDICARMSFVVPNQTLPQLNIMKHEVVIWL
GDLNYRLCMPDANEVKSLINKKDLQRLLKFDQLNIQRTQKKAFVDFNEGEIKFIPTYKYD
SKTDRWDSSGKCRVPAWCDRILWRGTNVNQLNYRSHMELKTSDHKPVSALFHIGVKVVDE
RRYRKVFEDSVRIMDRMENDFLPSLELSRREFVFENVKFRQLQKEKFQISNNGQVPCHFS
FIPKLNDSQYCKPWLRAEPFEGYLEPNETVDISLDVYVSKDSVTILNSGEDKIEDILVLH
LDRGKDYFLTISGNYLPSCFGTSLEALCRMKRPIREVPVTKLIDLEEDSFLEKEKSLLQM
VPLDEGASERPLQVPKEIWLLVDHLFKYACHQEDLFQTPGMQEELQQIIDCLDTSIPETI
PGSNHSVAEALLIFLEALPEPVICYELYQRCLDSAYDPRICRQVISQLPRCHRNVFRYLM
AFLRELLKFSEYNSVNANMIATLFTSLLLRPPPNLMARQTPSDRQRAIQFLLGFLLGSEE
D
NT seq 2706 nt NT seq  +upstreamnt  +downstreamnt
atggagccgccgctcccggtcggagcccagccgcttgccactgtcgagggtatggagatg
aagggtcctctccgggagccctgcgccctgaccctagcccagaggaacgggcaatatgag
ttaataatccagttgcatgagaaggaacagcatgttcaagatatcattcctataaatagc
cacttcagatgtgttcaagaagcagaagaaactcttttgattgacatagcttctaacagt
ggctgcaaaattcgggttcagggggactggatcagagagcgccgctttgaaatccctgat
gaggaacactgtttgaagttcctctcagctgtccttgctgctcagaaagctcagtcacag
cttcttgttccagagcaaaaggactcatctagctggtaccagaaattagacactaaggac
aaaccttctgttttttcagggcttcttggatttgaagacaatttttcttctatgaatttg
gacaagaaaataaattcacaaaatcagcctactgggattcatcgggaacccccacctcca
cccttttcagtgaataaaatgcttccacgtgaaaaagaagcttctaacaaggagcagccc
aaagtgaccaacaccatgcggaagctctttgtaccaaatacccaatctgggcagcgggag
ggtctcatcaaacatatcctggcaaagcgagagaaagaatatgtcaacattcagactttc
agattttttgttggaacttggaatgtgaatggccagtctccagatagcgggttagaacct
tggctgaactgtgatcccaatcctcctgatatctactgcattggattccaagaactggac
ttgagcacagaagccttcttctactttgaatctgtgaaggaacaagaatggtccatggct
gtagagagaggtttgcattccaaagccaagtataagaaagttcaactggtgcgccttgtt
gggatgatgcttcttatatttgccagaaaggatcagtgtcgatacattcgtgatattgct
acagaaacagttggaactggaatcatggggaaaatgggaaacaaaggtggggtagctgtg
agatttgtatttcacaacaccaccttttgcattgtcaattcccatctggctgcacacgtg
gaggactttgagagaaggaatcaagattataaggacatttgtgcgagaatgagttttgtg
gtcccaaatcagaccctcccgcagttgaacatcatgaaacatgaggttgtcatttggttg
ggagatttgaattatagactttgcatgcctgatgccaatgaggtgaaaagtcttattaat
aagaaagaccttcagagactcttgaaattcgaccagctaaatattcagcgcacacagaaa
aaagcttttgttgacttcaatgaaggggaaatcaagttcatccccacttataagtatgac
tctaaaacagaccggtgggattccagtgggaaatgccgggttccagcctggtgtgaccga
attctttggagaggaacaaatgttaatcagcttaattatcggagtcacatggaactgaaa
accagcgaccacaagcctgttagcgccctcttccatattggggtgaaggttgtggatgaa
cgaaggtaccggaaagtctttgaagatagtgtacgcatcatggacagaatggaaaatgac
ttccttccttccttagaactcagcaggagggagtttgtgtttgaaaatgtgaagtttcgg
caactacaaaaggagaagttccagatcagcaacaatggacaggttccctgccatttttct
ttcatccctaaacttaatgacagccagtactgcaagccatggcttcgggctgaacctttt
gagggctacttggagccaaatgagacagtggacatttctcttgatgtgtatgtcagcaaa
gactctgtaaccatcctgaactcgggagaagataagattgaagatattctcgtccttcac
ctggatcgaggcaaagattacttcttgactatcagtggaaattacctcccaagttgtttt
ggcacatccttagaggctctgtgccgtatgaaaagaccaatccgagaagttcctgttacc
aaactcatagacttggaagaagacagcttcctagaaaaggagaaatcccttctgcaaatg
gttcctttggatgaaggtgccagtgagagaccccttcaggttcccaaggagatctggctt
ctagtagatcacctattcaaatacgcctgtcaccaggaggacctgttccagacccctgga
atgcaggaagagctccagcagatcattgattgtctggataccagcattcctgagacaatc
cctggcagcaaccactctgtggctgaagcactgctcattttcttggaagccctgccagag
ccagtcatctgttacgagctgtatcagcgatgtcttgactctgcttatgatccccggatc
tgccgacaggtgatctcccagcttccgagatgccatagaaatgttttccgttacttgatg
gcattccttcgagaactcttaaaattctctgaatacaatagcgtcaatgccaacatgatc
gctactctcttcactagtcttctcctgaggcctccacccaaccttatggcaagacagact
ccaagtgaccgccagcgtgctattcagttccttctgggctttctgcttgggagcgaagaa
gactaa

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