KEGG   Homo sapiens (human): 4952
Entry
4952              CDS       T01001                                 
Symbol
OCRL, DENT2, Dent-2, INPP5F, LOCR, NPHL2, OCRL-1, OCRL1
Name
(RefSeq) OCRL inositol polyphosphate-5-phosphatase
  KO
K01099  inositol polyphosphate 5-phosphatase INPP5B/F [EC:3.1.3.36]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00562  Inositol phosphate metabolism
hsa01100  Metabolic pathways
hsa04070  Phosphatidylinositol signaling system
Disease
H00692  Lowe syndrome
H00694  Dent disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00562 Inositol phosphate metabolism
    4952 (OCRL)
 09130 Environmental Information Processing
  09132 Signal transduction
   04070 Phosphatidylinositol signaling system
    4952 (OCRL)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    4952 (OCRL)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.3  Phosphoric-monoester hydrolases
    3.1.3.36  phosphoinositide 5-phosphatase
     4952 (OCRL)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Small GTPases and associated proteins
   Rab associated proteins
    4952 (OCRL)
 Endocytosis
  Clathrin-mediated endocytosis
   Inositol 5-phosphatases
    4952 (OCRL)
  Rab GTPases and associated proteins
   Rab associated proteins
    4952 (OCRL)
 Protein recycling
   Other Rab GTPase associated proteins
    4952 (OCRL)
 Endosome - Golgi transport
   Rab associated proteins
    4952 (OCRL)
SSDB
Motif
Pfam: OCRL_clath_bd OCRL-like_ASH RhoGAP Exo_endo_phos INPP5B_PH
Other DBs
NCBI-GeneID: 4952
NCBI-ProteinID: NP_000267
OMIM: 300535
HGNC: 8108
Ensembl: ENSG00000122126
UniProt: Q01968
Structure
Position
X:129540259..129592556
AA seq 901 aa
MEPPLPVGAQPLATVEGMEMKGPLREPCALTLAQRNGQYELIIQLHEKEQHVQDIIPINS
HFRCVQEAEETLLIDIASNSGCKIRVQGDWIRERRFEIPDEEHCLKFLSAVLAAQKAQSQ
LLVPEQKDSSSWYQKLDTKDKPSVFSGLLGFEDNFSSMNLDKKINSQNQPTGIHREPPPP
PFSVNKMLPREKEASNKEQPKVTNTMRKLFVPNTQSGQREGLIKHILAKREKEYVNIQTF
RFFVGTWNVNGQSPDSGLEPWLNCDPNPPDIYCIGFQELDLSTEAFFYFESVKEQEWSMA
VERGLHSKAKYKKVQLVRLVGMMLLIFARKDQCRYIRDIATETVGTGIMGKMGNKGGVAV
RFVFHNTTFCIVNSHLAAHVEDFERRNQDYKDICARMSFVVPNQTLPQLNIMKHEVVIWL
GDLNYRLCMPDANEVKSLINKKDLQRLLKFDQLNIQRTQKKAFVDFNEGEIKFIPTYKYD
SKTDRWDSSGKCRVPAWCDRILWRGTNVNQLNYRSHMELKTSDHKPVSALFHIGVKVVDE
RRYRKVFEDSVRIMDRMENDFLPSLELSRREFVFENVKFRQLQKEKFQISNNGQVPCHFS
FIPKLNDSQYCKPWLRAEPFEGYLEPNETVDISLDVYVSKDSVTILNSGEDKIEDILVLH
LDRGKDYFLTISGNYLPSCFGTSLEALCRMKRPIREVPVTKLIDLEEDSFLEKEKSLLQM
VPLDEGASERPLQVPKEIWLLVDHLFKYACHQEDLFQTPGMQEELQQIIDCLDTSIPETI
PGSNHSVAEALLIFLEALPEPVICYELYQRCLDSAYDPRICRQVISQLPRCHRNVFRYLM
AFLRELLKFSEYNSVNANMIATLFTSLLLRPPPNLMARQTPSDRQRAIQFLLGFLLGSEE
D
NT seq 2706 nt   +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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Ontology (3)   
   KEGG BRITE (3)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Chemical substance (6)   
   KEGG COMPOUND (6)   
Chemical reaction (3)   
   KEGG ENZYME (1)   
   KEGG REACTION (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (18)   
   KEGG ORTHOLOGY (1)   
   RefGene (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (25)   
   RefSeq(nuc) (3)   
   GenBank (11)   
   EMBL (11)   
3D Structure (5)   
   PDB (5)   
Protein domain (5)   
   Pfam (5)   
All databases (79)   

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