KEGG T01001: 4952

Homo sapiens (human): 4952

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

hsa00562	Inositol phosphate metabolism
hsa01100	Metabolic pathways
hsa04070	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]

SSDB

Motif

Pfam:

Exo_endo_phos RhoGAP

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Structure

PDB:

3QBT 3QIS 2QV2 2KIE

Position

Xq25

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

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (6)   
   KEGG DISEASE (2)   
   OMIM (4)   
Chemical substance (4)   
   KEGG COMPOUND (4)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (18)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (10)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (1)   
   RefSeq(pep) (2)   
DNA sequence (22)   
   RefSeq(nuc) (2)   
   GenBank (10)   
   EMBL (10)   
3D Structure (4)   
   PDB (4)   
Protein domain (2)   
   Pfam (2)   
All databases (66)   

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