Homo sapiens (human): 4952
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Entry
4952 CDS
T01001
Symbol
OCRL, DENT2, Dent-2, INPP5F, LOCR, NPHL2, OCRL-1, OCRL1
Name
(RefSeq) inositol polyphosphate 5-phosphatase OCRL isoform a
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
Ortholog
Paralog
GFIT
Motif
Pfam:
Exo_endo_phos2
OCRL_clath_bd
OCRL-like_ASH
RhoGAP
Exo_endo_phos
INPP5B_PH
HYDIN_VesB_CFA65-like_Ig
Ig_CFAP65_4th
Cep192_D4
Motif
Other DBs
NCBI-GeneID:
4952
NCBI-ProteinID:
NP_000267
OMIM:
300535
HGNC:
8108
Ensembl:
ENSP00000360154.4
UniProt:
Q01968
Structure
PDB
PDBj
LinkDB
All DBs
Position
X:129540259..129592556
Genome browser
AA seq
901 aa
AA seq
DB search
MEPPLPVGAQPLATVEGMEMKGPLREPCALTLAQRNGQYELIIQLHEKEQHVQDIIPINS
HFRCVQEAEETLLIDIASNSGCKIRVQGDWIRERRFEIPDEEHCLKFLSAVLAAQKAQSQ
LLVPEQKDSSSWYQKLDTKDKPSVFSGLLGFEDNFSSMNLDKKINSQNQPTGIHREPPPP
PFSVNKMLPREKEASNKEQPKVTNTMRKLFVPNTQSGQREGLIKHILAKREKEYVNIQTF
RFFVGTWNVNGQSPDSGLEPWLNCDPNPPDIYCIGFQELDLSTEAFFYFESVKEQEWSMA
VERGLHSKAKYKKVQLVRLVGMMLLIFARKDQCRYIRDIATETVGTGIMGKMGNKGGVAV
RFVFHNTTFCIVNSHLAAHVEDFERRNQDYKDICARMSFVVPNQTLPQLNIMKHEVVIWL
GDLNYRLCMPDANEVKSLINKKDLQRLLKFDQLNIQRTQKKAFVDFNEGEIKFIPTYKYD
SKTDRWDSSGKCRVPAWCDRILWRGTNVNQLNYRSHMELKTSDHKPVSALFHIGVKVVDE
RRYRKVFEDSVRIMDRMENDFLPSLELSRREFVFENVKFRQLQKEKFQISNNGQVPCHFS
FIPKLNDSQYCKPWLRAEPFEGYLEPNETVDISLDVYVSKDSVTILNSGEDKIEDILVLH
LDRGKDYFLTISGNYLPSCFGTSLEALCRMKRPIREVPVTKLIDLEEDSFLEKEKSLLQM
VPLDEGASERPLQVPKEIWLLVDHLFKYACHQEDLFQTPGMQEELQQIIDCLDTSIPETI
PGSNHSVAEALLIFLEALPEPVICYELYQRCLDSAYDPRICRQVISQLPRCHRNVFRYLM
AFLRELLKFSEYNSVNANMIATLFTSLLLRPPPNLMARQTPSDRQRAIQFLLGFLLGSEE
D
NT seq
2706 nt
NT seq
+upstream
nt +downstream
nt
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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