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Protein

Inositol polyphosphate 5-phosphatase OCRL-1

Gene

OCRL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate (PubMed:25869668, PubMed:7761412, PubMed:9430698). May function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Involved in primary cilia assembly (PubMed:22228094, PubMed:22543976).5 Publications

Catalytic activityi

1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

BioCyciMetaCyc:HS04546-MONOMER.
ZFISH:HS04546-MONOMER.
BRENDAi3.1.3.36. 2681.
ReactomeiR-HSA-1660499. Synthesis of PIPs at the plasma membrane.
R-HSA-1660514. Synthesis of PIPs at the Golgi membrane.
R-HSA-1855183. Synthesis of IP2, IP, and Ins in the cytosol.
R-HSA-1855204. Synthesis of IP3 and IP4 in the cytosol.
R-HSA-194840. Rho GTPase cycle.
R-HSA-432722. Golgi Associated Vesicle Biogenesis.
R-HSA-8856828. Clathrin-mediated endocytosis.
SignaLinkiQ01968.

Chemistry databases

SwissLipidsiSLP:000001182.

Names & Taxonomyi

Protein namesi
Recommended name:
Inositol polyphosphate 5-phosphatase OCRL-1 (EC:3.1.3.36)
Alternative name(s):
Lowe oculocerebrorenal syndrome protein
Gene namesi
Name:OCRL
Synonyms:INPP5F, OCRL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:8108. OCRL.

Subcellular locationi

GO - Cellular componenti

  • clathrin-coated pit Source: UniProtKB-SubCell
  • clathrin-coated vesicle Source: UniProtKB
  • cytoplasm Source: FlyBase
  • cytosol Source: Reactome
  • early endosome Source: UniProtKB
  • early endosome membrane Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • Golgi-associated vesicle Source: ProtInc
  • Golgi stack Source: ProtInc
  • nucleus Source: FlyBase
  • phagocytic vesicle membrane Source: UniProtKB-SubCell
  • photoreceptor outer segment Source: UniProtKB
  • plasma membrane Source: FlyBase
  • trans-Golgi network Source: FlyBase
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Coated pit, Cytoplasmic vesicle, Endosome, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Lowe oculocerebrorenal syndrome (OCRL)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionX-linked multisystem disorder affecting eyes, nervous system, and kidney. It is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney. Ocular abnormalities include cataract, glaucoma, microphthalmos, and decreased visual acuity. Developmental delay, hypotonia, behavior abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impaired reabsorption of bicarbonate, amino acids, and phosphate. Musculoskeletal abnormalities such as joint hypermobility, dislocated hips, and fractures may develop as consequences of renal tubular acidosis and hypophosphatemia. Cataract is the only significant manifestation in carriers and is detected by slit-lamp examination.
See also OMIM:309000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064773242F → S in OCRL. 1 PublicationCorresponds to variant rs137853828dbSNPEnsembl.1
Natural variantiVAR_064774274I → T in OCRL. 1 PublicationCorresponds to variant rs137853829dbSNPEnsembl.1
Natural variantiVAR_064775277Q → R in OCRL. 1 PublicationCorresponds to variant rs137853830dbSNPEnsembl.1
Natural variantiVAR_022698318R → C in DD2 and OCRL. 3 PublicationsCorresponds to variant rs137853263dbSNPEnsembl.1
Natural variantiVAR_064776337R → C in OCRL; associated with I-361. 1 PublicationCorresponds to variant rs137853831dbSNPEnsembl.1
Natural variantiVAR_010169337R → P in OCRL. 1
Natural variantiVAR_010170357G → E in OCRL; uncertain pathological significance. 1 PublicationCorresponds to variant rs137853854dbSNPEnsembl.1
Natural variantiVAR_064778361R → I in OCRL; associated with C-337. 1 PublicationCorresponds to variant rs137853832dbSNPEnsembl.1
Natural variantiVAR_010171367Missing in OCRL. 1 Publication1
Natural variantiVAR_010172372V → G in OCRL. 1 PublicationCorresponds to variant rs137853834dbSNPEnsembl.1
Natural variantiVAR_064779373N → Y in OCRL. 1 PublicationCorresponds to variant rs137853835dbSNPEnsembl.1
Natural variantiVAR_064780374S → F in OCRL. 1 PublicationCorresponds to variant rs137853836dbSNPEnsembl.1
Natural variantiVAR_010173375H → Y in OCRL. 1 PublicationCorresponds to variant rs137853848dbSNPEnsembl.1
Natural variantiVAR_064781414H → R in OCRL. 1 PublicationCorresponds to variant rs137853837dbSNPEnsembl.1
Natural variantiVAR_010174421G → E in OCRL. 1 PublicationCorresponds to variant rs137853855dbSNPEnsembl.1
Natural variantiVAR_010175424N → D in OCRL. 1 PublicationCorresponds to variant rs137853856dbSNPEnsembl.1
Natural variantiVAR_010176451D → G in OCRL. 1 PublicationCorresponds to variant rs137853850dbSNPEnsembl.1
Natural variantiVAR_064782451D → N in OCRL. 1 PublicationCorresponds to variant rs137853838dbSNPEnsembl.1
Natural variantiVAR_064783457R → G in OCRL. 1 PublicationCorresponds to variant rs137853839dbSNPEnsembl.1
Natural variantiVAR_010177463F → S in OCRL. 1 PublicationCorresponds to variant rs137853851dbSNPEnsembl.1
Natural variantiVAR_064784468E → G in OCRL. 1 PublicationCorresponds to variant rs137853841dbSNPEnsembl.1
Natural variantiVAR_064785468E → K in OCRL. 1 PublicationCorresponds to variant rs137853840dbSNPEnsembl.1
Natural variantiVAR_023957478 – 479Missing in OCRL. 2
Natural variantiVAR_064787495P → L in OCRL. 1 Publication1
Natural variantiVAR_010178498C → Y in OCRL. 1 PublicationCorresponds to variant rs137853857dbSNPEnsembl.1
Natural variantiVAR_064788499D → H in OCRL. 1 PublicationCorresponds to variant rs137853842dbSNPEnsembl.1
Natural variantiVAR_010179500R → G in OCRL. Corresponds to variant rs398123287dbSNPEnsembl.1
Natural variantiVAR_010180500R → Q in OCRL. 3 PublicationsCorresponds to variant rs137853260dbSNPEnsembl.1
Natural variantiVAR_064789503W → R in OCRL. 1 PublicationCorresponds to variant rs137853843dbSNPEnsembl.1
Natural variantiVAR_010181508V → D in OCRL. 1 PublicationCorresponds to variant rs137853849dbSNPEnsembl.1
Natural variantiVAR_010182513Y → C in OCRL. 1 PublicationCorresponds to variant rs137853847dbSNPEnsembl.1
Natural variantiVAR_010183522S → R in OCRL. 1 PublicationCorresponds to variant rs137853853dbSNPEnsembl.1
Natural variantiVAR_010184524H → Q in OCRL. 1 PublicationCorresponds to variant rs137853261dbSNPEnsembl.1
Natural variantiVAR_010185524H → R in OCRL. 1 PublicationCorresponds to variant rs137853852dbSNPEnsembl.1
Natural variantiVAR_023958526P → L in OCRL. 1 PublicationCorresponds to variant rs137853858dbSNPEnsembl.1
Natural variantiVAR_010187533I → S in OCRL. 1
Natural variantiVAR_064790591N → K in OCRL. 2 PublicationsCorresponds to variant rs137853844dbSNPEnsembl.1
Natural variantiVAR_064791742Missing in OCRL. 1 Publication1
Natural variantiVAR_010188768I → N in OCRL; uncertain pathological significance; abolishes FAM109A-, FAM109B- and APPL1-binding. 2 Publications1
Natural variantiVAR_010189797A → P in OCRL; uncertain pathological significance. 2 Publications1
Natural variantiVAR_064793801P → L in OCRL. 1 Publication1
Natural variantiVAR_064794891L → R in OCRL. 1 PublicationCorresponds to variant rs137853845dbSNPEnsembl.1
Dent disease 2 (DD2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Characteristic abnormalities include low-molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones.
See also OMIM:300555
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022698318R → C in DD2 and OCRL. 3 PublicationsCorresponds to variant rs137853263dbSNPEnsembl.1
Natural variantiVAR_064777354N → H in DD2. 1 PublicationCorresponds to variant rs137853833dbSNPEnsembl.1
Natural variantiVAR_022699479Y → C in DD2. 1 PublicationCorresponds to variant rs137853262dbSNPEnsembl.1
Natural variantiVAR_064786493R → W in DD2. 1 PublicationCorresponds to variant rs137853846dbSNPEnsembl.1
Natural variantiVAR_064792799P → L in DD2. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi422D → A: Does not affect interaction with RAB8A. 1 Publication1
Mutagenesisi499D → A: Does not affect interaction with RAB8A. 1 Publication1
Mutagenesisi668F → V: Does not interact with RAB8A. Does not localize to cilia. 1 Publication1

Keywords - Diseasei

Cataract, Ciliopathy, Disease mutation

Organism-specific databases

DisGeNETi4952.
MalaCardsiOCRL.
MIMi300555. phenotype.
309000. phenotype.
OpenTargetsiENSG00000122126.
Orphaneti93623. Dent disease type 2.
534. Oculocerebrorenal syndrome.
PharmGKBiPA31896.

Polymorphism and mutation databases

BioMutaiOCRL.
DMDMi67477390.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002097211 – 901Inositol polyphosphate 5-phosphatase OCRL-1Add BLAST901

Proteomic databases

EPDiQ01968.
MaxQBiQ01968.
PaxDbiQ01968.
PeptideAtlasiQ01968.
PRIDEiQ01968.
TopDownProteomicsiQ01968-2. [Q01968-2]

PTM databases

DEPODiQ01968.
iPTMnetiQ01968.
PhosphoSitePlusiQ01968.

Expressioni

Tissue specificityi

Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium.1 Publication

Gene expression databases

BgeeiENSG00000122126.
CleanExiHS_INPP5F.
GenevisibleiQ01968. HS.

Organism-specific databases

HPAiHPA012495.

Interactioni

Subunit structurei

Interacts with APPL1, FAM109A/SES1 and FAM109B/SES2; APPL1-binding and FAM109A-binding are mutually exclusive. Interacts with clathrin heavy chain. Interacts with several Rab GTPases, at least RAB1B, RAB5A, RAB6A, RAB8A and RAB31; these interactions may play a dual role in targeting OCRL to the specific membranes and stimulating the phosphatase activity. Interaction with RAB8A modulates OCRL recruitment to cilia. Interacts with INPP5F (PubMed:25869668).8 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CLTCQ006105EBI-6148898,EBI-354967
CltcP114425EBI-6148898,EBI-397997From a different organism.
FAM109BQ6ICB44EBI-11749425,EBI-11081747
RAB14P611063EBI-6148898,EBI-1056404
RAB1AP628207EBI-6148898,EBI-716845
RAB1BQ9H0U42EBI-6148898,EBI-1045214
RAB5AP2033910EBI-6148898,EBI-399437
RAB6AP2034011EBI-6148898,EBI-1052826
RAB8AP6100613EBI-6148898,EBI-722293
RAC1P630003EBI-6148898,EBI-413628

GO - Molecular functioni

  • Rac GTPase binding Source: FlyBase

Protein-protein interaction databases

BioGridi111006. 39 interactors.
IntActiQ01968. 44 interactors.
MINTiMINT-5004450.
STRINGi9606.ENSP00000360154.

Structurei

Secondary structure

1901
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi10 – 21Combined sources12
Beta strandi24 – 35Combined sources12
Beta strandi38 – 45Combined sources8
Beta strandi52 – 57Combined sources6
Beta strandi59 – 61Combined sources3
Beta strandi63 – 70Combined sources8
Helixi76 – 78Combined sources3
Beta strandi80 – 90Combined sources11
Beta strandi94 – 98Combined sources5
Helixi101 – 118Combined sources18
Helixi222 – 229Combined sources8
Helixi231 – 234Combined sources4
Beta strandi235 – 248Combined sources14
Helixi259 – 262Combined sources4
Beta strandi265 – 267Combined sources3
Beta strandi270 – 277Combined sources8
Helixi283 – 286Combined sources4
Helixi292 – 304Combined sources13
Beta strandi311 – 319Combined sources9
Beta strandi322 – 329Combined sources8
Helixi332 – 335Combined sources4
Beta strandi336 – 345Combined sources10
Helixi348 – 350Combined sources3
Beta strandi355 – 364Combined sources10
Beta strandi367 – 375Combined sources9
Helixi383 – 396Combined sources14
Helixi411 – 413Combined sources3
Beta strandi414 – 422Combined sources9
Helixi432 – 440Combined sources9
Helixi444 – 448Combined sources5
Helixi452 – 458Combined sources7
Beta strandi461 – 463Combined sources3
Beta strandi483 – 486Combined sources4
Beta strandi489 – 491Combined sources3
Beta strandi499 – 504Combined sources6
Beta strandi506 – 510Combined sources5
Beta strandi521 – 524Combined sources4
Beta strandi527 – 538Combined sources12
Helixi541 – 548Combined sources8
Helixi553 – 560Combined sources8
Beta strandi565 – 568Combined sources4
Beta strandi571 – 577Combined sources7
Beta strandi583 – 591Combined sources9
Beta strandi593 – 595Combined sources3
Beta strandi597 – 602Combined sources6
Beta strandi608 – 611Combined sources4
Beta strandi615 – 619Combined sources5
Beta strandi621 – 624Combined sources4
Beta strandi629 – 636Combined sources8
Helixi640 – 648Combined sources9
Beta strandi649 – 651Combined sources3
Beta strandi655 – 661Combined sources7
Beta strandi666 – 675Combined sources10
Helixi684 – 689Combined sources6
Helixi700 – 702Combined sources3
Helixi736 – 748Combined sources13
Turni753 – 757Combined sources5
Helixi762 – 774Combined sources13
Helixi784 – 797Combined sources14
Helixi805 – 814Combined sources10
Helixi818 – 826Combined sources9
Helixi830 – 847Combined sources18
Helixi850 – 853Combined sources4
Helixi857 – 868Combined sources12
Helixi873 – 875Combined sources3
Helixi883 – 895Combined sources13

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KIENMR-A1-119[»]
2QV2X-ray2.40A564-901[»]
3QBTX-ray2.00B/D/F/H540-678[»]
3QISX-ray2.30A536-901[»]
4CMNX-ray3.13A215-560[»]
ProteinModelPortaliQ01968.
SMRiQ01968.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ01968.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 119PHAdd BLAST119
Domaini721 – 901Rho-GAPPROSITE-ProRule annotationAdd BLAST181

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni237 – 5635-phosphataseAdd BLAST327
Regioni564 – 678ASHAdd BLAST115

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi73 – 77Clathrin box 15
Motifi702 – 706Clathrin box 25

Domaini

The ASH (ASPM-SPD2-Hydin) and RhoGAP (Rho GTPase activating) domains form a single folding module. The ASH domain has an immunoglobulin-like fold, the Rho-GAP domain lacks the catalytic arginine and is catalytically inactive. The ASH-RhoGAP module regulates the majority of the protein-protein interactions currently described. The ASH domain mediates association with membrane-targeting Rab GTPases. The Rho-GAP domain interacts with the endocytic adapter APPL1, which is then displaced by FAM109A and FAM109B as endosomes mature.1 Publication

Sequence similaritiesi

Contains 1 PH domain.Curated
Contains 1 Rho-GAP domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG0565. Eukaryota.
COG5411. LUCA.
GeneTreeiENSGT00760000119075.
HOGENOMiHOG000008071.
HOVERGENiHBG000070.
InParanoidiQ01968.
KOiK01099.
OMAiIPDEEHC.
OrthoDBiEOG091G02KE.
PhylomeDBiQ01968.
TreeFamiTF317034.

Family and domain databases

Gene3Di1.10.555.10. 2 hits.
3.60.10.10. 1 hit.
InterProiIPR005135. Endo/exonuclease/phosphatase.
IPR000300. IPPc.
IPR031995. OCRL_clath-bd.
IPR008936. Rho_GTPase_activation_prot.
IPR000198. RhoGAP_dom.
[Graphical view]
PfamiPF03372. Exo_endo_phos. 1 hit.
PF16726. OCRL_clath_bd. 1 hit.
PF00620. RhoGAP. 1 hit.
[Graphical view]
SMARTiSM00128. IPPc. 1 hit.
SM00324. RhoGAP. 1 hit.
[Graphical view]
SUPFAMiSSF48350. SSF48350. 2 hits.
SSF56219. SSF56219. 1 hit.
PROSITEiPS50238. RHOGAP. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform A (identifier: Q01968-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEPPLPVGAQ PLATVEGMEM KGPLREPCAL TLAQRNGQYE LIIQLHEKEQ
60 70 80 90 100
HVQDIIPINS HFRCVQEAEE TLLIDIASNS GCKIRVQGDW IRERRFEIPD
110 120 130 140 150
EEHCLKFLSA VLAAQKAQSQ LLVPEQKDSS SWYQKLDTKD KPSVFSGLLG
160 170 180 190 200
FEDNFSSMNL DKKINSQNQP TGIHREPPPP PFSVNKMLPR EKEASNKEQP
210 220 230 240 250
KVTNTMRKLF VPNTQSGQRE GLIKHILAKR EKEYVNIQTF RFFVGTWNVN
260 270 280 290 300
GQSPDSGLEP WLNCDPNPPD IYCIGFQELD LSTEAFFYFE SVKEQEWSMA
310 320 330 340 350
VERGLHSKAK YKKVQLVRLV GMMLLIFARK DQCRYIRDIA TETVGTGIMG
360 370 380 390 400
KMGNKGGVAV RFVFHNTTFC IVNSHLAAHV EDFERRNQDY KDICARMSFV
410 420 430 440 450
VPNQTLPQLN IMKHEVVIWL GDLNYRLCMP DANEVKSLIN KKDLQRLLKF
460 470 480 490 500
DQLNIQRTQK KAFVDFNEGE IKFIPTYKYD SKTDRWDSSG KCRVPAWCDR
510 520 530 540 550
ILWRGTNVNQ LNYRSHMELK TSDHKPVSAL FHIGVKVVDE RRYRKVFEDS
560 570 580 590 600
VRIMDRMEND FLPSLELSRR EFVFENVKFR QLQKEKFQIS NNGQVPCHFS
610 620 630 640 650
FIPKLNDSQY CKPWLRAEPF EGYLEPNETV DISLDVYVSK DSVTILNSGE
660 670 680 690 700
DKIEDILVLH LDRGKDYFLT ISGNYLPSCF GTSLEALCRM KRPIREVPVT
710 720 730 740 750
KLIDLEEDSF LEKEKSLLQM VPLDEGASER PLQVPKEIWL LVDHLFKYAC
760 770 780 790 800
HQEDLFQTPG MQEELQQIID CLDTSIPETI PGSNHSVAEA LLIFLEALPE
810 820 830 840 850
PVICYELYQR CLDSAYDPRI CRQVISQLPR CHRNVFRYLM AFLRELLKFS
860 870 880 890 900
EYNSVNANMI ATLFTSLLLR PPPNLMARQT PSDRQRAIQF LLGFLLGSEE

D
Length:901
Mass (Da):104,205
Last modified:June 7, 2005 - v3
Checksum:i476BFCCC3655C1FE
GO
Isoform B (identifier: Q01968-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     707-714: Missing.

Show »
Length:893
Mass (Da):103,227
Checksum:iE61E59C6AD0AC650
GO

Sequence cautioni

The sequence AAA59964 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti180P → L in BAF85796 (PubMed:14702039).Curated1
Sequence conflicti321G → E in AAI44107 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064773242F → S in OCRL. 1 PublicationCorresponds to variant rs137853828dbSNPEnsembl.1
Natural variantiVAR_064774274I → T in OCRL. 1 PublicationCorresponds to variant rs137853829dbSNPEnsembl.1
Natural variantiVAR_064775277Q → R in OCRL. 1 PublicationCorresponds to variant rs137853830dbSNPEnsembl.1
Natural variantiVAR_022698318R → C in DD2 and OCRL. 3 PublicationsCorresponds to variant rs137853263dbSNPEnsembl.1
Natural variantiVAR_064776337R → C in OCRL; associated with I-361. 1 PublicationCorresponds to variant rs137853831dbSNPEnsembl.1
Natural variantiVAR_010169337R → P in OCRL. 1
Natural variantiVAR_064777354N → H in DD2. 1 PublicationCorresponds to variant rs137853833dbSNPEnsembl.1
Natural variantiVAR_010170357G → E in OCRL; uncertain pathological significance. 1 PublicationCorresponds to variant rs137853854dbSNPEnsembl.1
Natural variantiVAR_064778361R → I in OCRL; associated with C-337. 1 PublicationCorresponds to variant rs137853832dbSNPEnsembl.1
Natural variantiVAR_010171367Missing in OCRL. 1 Publication1
Natural variantiVAR_010172372V → G in OCRL. 1 PublicationCorresponds to variant rs137853834dbSNPEnsembl.1
Natural variantiVAR_064779373N → Y in OCRL. 1 PublicationCorresponds to variant rs137853835dbSNPEnsembl.1
Natural variantiVAR_064780374S → F in OCRL. 1 PublicationCorresponds to variant rs137853836dbSNPEnsembl.1
Natural variantiVAR_010173375H → Y in OCRL. 1 PublicationCorresponds to variant rs137853848dbSNPEnsembl.1
Natural variantiVAR_064781414H → R in OCRL. 1 PublicationCorresponds to variant rs137853837dbSNPEnsembl.1
Natural variantiVAR_010174421G → E in OCRL. 1 PublicationCorresponds to variant rs137853855dbSNPEnsembl.1
Natural variantiVAR_010175424N → D in OCRL. 1 PublicationCorresponds to variant rs137853856dbSNPEnsembl.1
Natural variantiVAR_010176451D → G in OCRL. 1 PublicationCorresponds to variant rs137853850dbSNPEnsembl.1
Natural variantiVAR_064782451D → N in OCRL. 1 PublicationCorresponds to variant rs137853838dbSNPEnsembl.1
Natural variantiVAR_064783457R → G in OCRL. 1 PublicationCorresponds to variant rs137853839dbSNPEnsembl.1
Natural variantiVAR_010177463F → S in OCRL. 1 PublicationCorresponds to variant rs137853851dbSNPEnsembl.1
Natural variantiVAR_064784468E → G in OCRL. 1 PublicationCorresponds to variant rs137853841dbSNPEnsembl.1
Natural variantiVAR_064785468E → K in OCRL. 1 PublicationCorresponds to variant rs137853840dbSNPEnsembl.1
Natural variantiVAR_023957478 – 479Missing in OCRL. 2
Natural variantiVAR_022699479Y → C in DD2. 1 PublicationCorresponds to variant rs137853262dbSNPEnsembl.1
Natural variantiVAR_064786493R → W in DD2. 1 PublicationCorresponds to variant rs137853846dbSNPEnsembl.1
Natural variantiVAR_064787495P → L in OCRL. 1 Publication1
Natural variantiVAR_010178498C → Y in OCRL. 1 PublicationCorresponds to variant rs137853857dbSNPEnsembl.1
Natural variantiVAR_064788499D → H in OCRL. 1 PublicationCorresponds to variant rs137853842dbSNPEnsembl.1
Natural variantiVAR_010179500R → G in OCRL. Corresponds to variant rs398123287dbSNPEnsembl.1
Natural variantiVAR_010180500R → Q in OCRL. 3 PublicationsCorresponds to variant rs137853260dbSNPEnsembl.1
Natural variantiVAR_064789503W → R in OCRL. 1 PublicationCorresponds to variant rs137853843dbSNPEnsembl.1
Natural variantiVAR_010181508V → D in OCRL. 1 PublicationCorresponds to variant rs137853849dbSNPEnsembl.1
Natural variantiVAR_010182513Y → C in OCRL. 1 PublicationCorresponds to variant rs137853847dbSNPEnsembl.1
Natural variantiVAR_010183522S → R in OCRL. 1 PublicationCorresponds to variant rs137853853dbSNPEnsembl.1
Natural variantiVAR_010184524H → Q in OCRL. 1 PublicationCorresponds to variant rs137853261dbSNPEnsembl.1
Natural variantiVAR_010185524H → R in OCRL. 1 PublicationCorresponds to variant rs137853852dbSNPEnsembl.1
Natural variantiVAR_023958526P → L in OCRL. 1 PublicationCorresponds to variant rs137853858dbSNPEnsembl.1
Natural variantiVAR_010187533I → S in OCRL. 1
Natural variantiVAR_064790591N → K in OCRL. 2 PublicationsCorresponds to variant rs137853844dbSNPEnsembl.1
Natural variantiVAR_064791742Missing in OCRL. 1 Publication1
Natural variantiVAR_010188768I → N in OCRL; uncertain pathological significance; abolishes FAM109A-, FAM109B- and APPL1-binding. 2 Publications1
Natural variantiVAR_010189797A → P in OCRL; uncertain pathological significance. 2 Publications1
Natural variantiVAR_064792799P → L in DD2. 1 Publication1
Natural variantiVAR_064793801P → L in OCRL. 1 Publication1
Natural variantiVAR_064794891L → R in OCRL. 1 PublicationCorresponds to variant rs137853845dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_002681707 – 714Missing in isoform B. 2 Publications8

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M88162 mRNA. Translation: AAA59964.2. Different initiation.
U57627 mRNA. Translation: AAB03839.2.
AK293107 mRNA. Translation: BAF85796.1.
AL022162, AL138745, AL662877 Genomic DNA. Translation: CAI95695.1.
AL022162, AL138745, AL662877 Genomic DNA. Translation: CAI95696.1.
AL138745, AL022162, AL662877 Genomic DNA. Translation: CAI42615.1.
AL138745, AL022162, AL662877 Genomic DNA. Translation: CAI42616.1.
AL662877, AL022162, AL138745 Genomic DNA. Translation: CAI41087.1.
AL662877, AL022162, AL138745 Genomic DNA. Translation: CAI41088.1.
Z73496 Genomic DNA. No translation available.
CH471107 Genomic DNA. Translation: EAX11831.1.
CH471107 Genomic DNA. Translation: EAX11832.1.
BC130612 mRNA. Translation: AAI30613.1.
BC144106 mRNA. Translation: AAI44107.1.
S62085 mRNA. Translation: AAB26926.1.
CCDSiCCDS35393.1. [Q01968-1]
CCDS35394.1. [Q01968-2]
PIRiS29069.
RefSeqiNP_000267.2. NM_000276.3. [Q01968-1]
NP_001578.2. NM_001587.3. [Q01968-2]
UniGeneiHs.126357.

Genome annotation databases

EnsembliENST00000357121; ENSP00000349635; ENSG00000122126. [Q01968-2]
ENST00000371113; ENSP00000360154; ENSG00000122126. [Q01968-1]
GeneIDi4952.
KEGGihsa:4952.
UCSCiuc004euq.4. human. [Q01968-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Lowe Syndrome mutation database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M88162 mRNA. Translation: AAA59964.2. Different initiation.
U57627 mRNA. Translation: AAB03839.2.
AK293107 mRNA. Translation: BAF85796.1.
AL022162, AL138745, AL662877 Genomic DNA. Translation: CAI95695.1.
AL022162, AL138745, AL662877 Genomic DNA. Translation: CAI95696.1.
AL138745, AL022162, AL662877 Genomic DNA. Translation: CAI42615.1.
AL138745, AL022162, AL662877 Genomic DNA. Translation: CAI42616.1.
AL662877, AL022162, AL138745 Genomic DNA. Translation: CAI41087.1.
AL662877, AL022162, AL138745 Genomic DNA. Translation: CAI41088.1.
Z73496 Genomic DNA. No translation available.
CH471107 Genomic DNA. Translation: EAX11831.1.
CH471107 Genomic DNA. Translation: EAX11832.1.
BC130612 mRNA. Translation: AAI30613.1.
BC144106 mRNA. Translation: AAI44107.1.
S62085 mRNA. Translation: AAB26926.1.
CCDSiCCDS35393.1. [Q01968-1]
CCDS35394.1. [Q01968-2]
PIRiS29069.
RefSeqiNP_000267.2. NM_000276.3. [Q01968-1]
NP_001578.2. NM_001587.3. [Q01968-2]
UniGeneiHs.126357.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KIENMR-A1-119[»]
2QV2X-ray2.40A564-901[»]
3QBTX-ray2.00B/D/F/H540-678[»]
3QISX-ray2.30A536-901[»]
4CMNX-ray3.13A215-560[»]
ProteinModelPortaliQ01968.
SMRiQ01968.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111006. 39 interactors.
IntActiQ01968. 44 interactors.
MINTiMINT-5004450.
STRINGi9606.ENSP00000360154.

Chemistry databases

SwissLipidsiSLP:000001182.

PTM databases

DEPODiQ01968.
iPTMnetiQ01968.
PhosphoSitePlusiQ01968.

Polymorphism and mutation databases

BioMutaiOCRL.
DMDMi67477390.

Proteomic databases

EPDiQ01968.
MaxQBiQ01968.
PaxDbiQ01968.
PeptideAtlasiQ01968.
PRIDEiQ01968.
TopDownProteomicsiQ01968-2. [Q01968-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357121; ENSP00000349635; ENSG00000122126. [Q01968-2]
ENST00000371113; ENSP00000360154; ENSG00000122126. [Q01968-1]
GeneIDi4952.
KEGGihsa:4952.
UCSCiuc004euq.4. human. [Q01968-1]

Organism-specific databases

CTDi4952.
DisGeNETi4952.
GeneCardsiOCRL.
GeneReviewsiOCRL.
HGNCiHGNC:8108. OCRL.
HPAiHPA012495.
MalaCardsiOCRL.
MIMi300535. gene.
300555. phenotype.
309000. phenotype.
neXtProtiNX_Q01968.
OpenTargetsiENSG00000122126.
Orphaneti93623. Dent disease type 2.
534. Oculocerebrorenal syndrome.
PharmGKBiPA31896.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0565. Eukaryota.
COG5411. LUCA.
GeneTreeiENSGT00760000119075.
HOGENOMiHOG000008071.
HOVERGENiHBG000070.
InParanoidiQ01968.
KOiK01099.
OMAiIPDEEHC.
OrthoDBiEOG091G02KE.
PhylomeDBiQ01968.
TreeFamiTF317034.

Enzyme and pathway databases

BioCyciMetaCyc:HS04546-MONOMER.
ZFISH:HS04546-MONOMER.
BRENDAi3.1.3.36. 2681.
ReactomeiR-HSA-1660499. Synthesis of PIPs at the plasma membrane.
R-HSA-1660514. Synthesis of PIPs at the Golgi membrane.
R-HSA-1855183. Synthesis of IP2, IP, and Ins in the cytosol.
R-HSA-1855204. Synthesis of IP3 and IP4 in the cytosol.
R-HSA-194840. Rho GTPase cycle.
R-HSA-432722. Golgi Associated Vesicle Biogenesis.
R-HSA-8856828. Clathrin-mediated endocytosis.
SignaLinkiQ01968.

Miscellaneous databases

EvolutionaryTraceiQ01968.
GeneWikiiOCRL.
GenomeRNAii4952.
PROiQ01968.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000122126.
CleanExiHS_INPP5F.
GenevisibleiQ01968. HS.

Family and domain databases

Gene3Di1.10.555.10. 2 hits.
3.60.10.10. 1 hit.
InterProiIPR005135. Endo/exonuclease/phosphatase.
IPR000300. IPPc.
IPR031995. OCRL_clath-bd.
IPR008936. Rho_GTPase_activation_prot.
IPR000198. RhoGAP_dom.
[Graphical view]
PfamiPF03372. Exo_endo_phos. 1 hit.
PF16726. OCRL_clath_bd. 1 hit.
PF00620. RhoGAP. 1 hit.
[Graphical view]
SMARTiSM00128. IPPc. 1 hit.
SM00324. RhoGAP. 1 hit.
[Graphical view]
SUPFAMiSSF48350. SSF48350. 2 hits.
SSF56219. SSF56219. 1 hit.
PROSITEiPS50238. RHOGAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiOCRL_HUMAN
AccessioniPrimary (citable) accession number: Q01968
Secondary accession number(s): A6NKI1
, A8KAP2, B7ZLX2, O60800, Q15684, Q15774, Q4VY09, Q4VY10, Q5JQF1, Q5JQF2, Q9UJG5, Q9UMA5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: June 7, 2005
Last modified: November 30, 2016
This is version 182 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

It is uncertain whether Met-1, Met-18 or Met-20 is the initiator.Curated

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.