UniProtKB - Q01968 (OCRL_HUMAN)
Inositol polyphosphate 5-phosphatase OCRL
OCRL
Functioni
Caution
Catalytic activityi
- a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + phosphate4 PublicationsEC:3.1.3.364 PublicationsThis reaction proceeds in the forwardCurated direction.
- a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4,5-trisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4-bisphosphate) + phosphate2 PublicationsEC:3.1.3.862 PublicationsThis reaction proceeds in the forwardCurated direction.
- 1D-myo-inositol 1,3,4,5-tetrakisphosphate + H2O = 1D-myo-inositol 1,3,4-trisphosphate + phosphate2 PublicationsEC:3.1.3.562 PublicationsThis reaction proceeds in the forwardCurated direction.
- 1D-myo-inositol 1,4,5-trisphosphate + H2O = 1D-myo-inositol 1,4-bisphosphate + phosphate2 PublicationsEC:3.1.3.562 PublicationsThis reaction proceeds in the forwardCurated direction.
Kineticsi
- KM=30 µM for Ins(1,3,4,5)P41 Publication
- KM=139 µM for PtdIns(3,4,5)P31 Publication
- KM=23 µM for PtdIns(4,5)P21 Publication
- KM=70 µM for Ins(1,4,5)P31 Publication
- Vmax=1.8 µmol/min/mg enzyme with Ins(1,3,4,5)P4 as substrate1 Publication
- Vmax=8 µmol/min/mg enzyme with Ins(1,4,5)P3 as substrate1 Publication
GO - Molecular functioni
- GTPase activator activity Source: FlyBase
- inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity Source: UniProtKB-EC
- inositol-1,4,5-trisphosphate 5-phosphatase activity Source: UniProtKB-EC
- inositol phosphate phosphatase activity Source: UniProtKB
- inositol-polyphosphate 5-phosphatase activity Source: UniProtKB-EC
- phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity Source: GO_Central
- Rac GTPase binding Source: FlyBase
GO - Biological processi
- cilium assembly Source: UniProtKB
- inositol phosphate dephosphorylation Source: GO_Central
- inositol phosphate metabolic process Source: Reactome
- in utero embryonic development Source: Ensembl
- lipid metabolic process Source: ProtInc
- membrane organization Source: Reactome
- phosphatidylinositol biosynthetic process Source: Reactome
- phosphatidylinositol dephosphorylation Source: GO_Central
- regulation of GTPase activity Source: FlyBase
- regulation of small GTPase mediated signal transduction Source: Reactome
- signal transduction Source: InterPro
Keywordsi
Molecular function | Hydrolase |
Biological process | Cilium biogenesis/degradation |
Enzyme and pathway databases
BioCyci | MetaCyc:HS04546-MONOMER |
BRENDAi | 3.1.3.36, 2681 |
PathwayCommonsi | Q01968 |
Reactomei | R-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 |
SignaLinki | Q01968 |
Chemistry databases
SwissLipidsi | SLP:000001182 |
Names & Taxonomyi
Protein namesi | Recommended name: Inositol polyphosphate 5-phosphatase OCRLCurated (EC:3.1.3.363 Publications, EC:3.1.3.562 Publications)Alternative name(s): Inositol polyphosphate 5-phosphatase OCRL-1 Short name: OCRL-11 Publication Lowe oculocerebrorenal syndrome protein Phosphatidylinositol 3,4,5-triphosphate 5-phosphatase (EC:3.1.3.862 Publications) |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8108, OCRL |
MIMi | 300535, gene |
neXtProti | NX_Q01968 |
VEuPathDBi | HostDB:ENSG00000122126.15 |
Subcellular locationi
Endosome
- Early endosome membrane 2 Publications
- Endosome 2 Publications
Golgi apparatus
- trans-Golgi network By similarity
Lysosome
- Lysosome 1 Publication
Other locations
- phagosome membrane By similarity
- clathrin-coated pit 1 Publication
- photoreceptor outer segment 1 Publication
- cilium 1 Publication
- Cytoplasmic vesicle By similarity
Note: Also found on macropinosomes (PubMed:25869668). Colocalized with APPL1 on phagosomes (PubMed:22072788).2 Publications
Cytosol
- cytosol Source: Reactome
Endosome
- early endosome Source: UniProtKB
- early endosome membrane Source: UniProtKB-SubCell
Golgi apparatus
- Golgi stack Source: ProtInc
- trans-Golgi network Source: FlyBase
Lysosome
- lysosome Source: UniProtKB-SubCell
Nucleus
- nucleus Source: FlyBase
Plasma Membrane
- clathrin-coated pit Source: UniProtKB-SubCell
- plasma membrane Source: FlyBase
Other locations
- clathrin-coated vesicle Source: UniProtKB
- cytoplasm Source: FlyBase
- Golgi-associated vesicle Source: ProtInc
- membrane Source: GO_Central
- phagocytic vesicle membrane Source: UniProtKB-SubCell
- photoreceptor outer segment Source: UniProtKB
Keywords - Cellular componenti
Cell projection, Cilium, Coated pit, Cytoplasmic vesicle, Endosome, Golgi apparatus, Lysosome, MembranePathology & Biotechi
Involvement in diseasei
Lowe oculocerebrorenal syndrome (OCRL)10 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064773 | 242 | F → S in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853828EnsemblClinVar. | 1 | |
Natural variantiVAR_064774 | 274 | I → T in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853829EnsemblClinVar. | 1 | |
Natural variantiVAR_064775 | 277 | Q → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853830EnsemblClinVar. | 1 | |
Natural variantiVAR_022698 | 318 | R → C in DD2 and OCRL. 3 PublicationsCorresponds to variant dbSNP:rs137853263EnsemblClinVar. | 1 | |
Natural variantiVAR_064776 | 337 | R → C in OCRL; associated with I-361. 1 PublicationCorresponds to variant dbSNP:rs137853831EnsemblClinVar. | 1 | |
Natural variantiVAR_010169 | 337 | R → P in OCRL. | 1 | |
Natural variantiVAR_010170 | 357 | G → E in OCRL; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs137853854EnsemblClinVar. | 1 | |
Natural variantiVAR_064778 | 361 | R → I in OCRL; associated with C-337. 1 PublicationCorresponds to variant dbSNP:rs137853832EnsemblClinVar. | 1 | |
Natural variantiVAR_010171 | 367 | Missing in OCRL. 1 Publication | 1 | |
Natural variantiVAR_010172 | 372 | V → G in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853834EnsemblClinVar. | 1 | |
Natural variantiVAR_064779 | 373 | N → Y in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853835EnsemblClinVar. | 1 | |
Natural variantiVAR_064780 | 374 | S → F in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853836EnsemblClinVar. | 1 | |
Natural variantiVAR_010173 | 375 | H → Y in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853848EnsemblClinVar. | 1 | |
Natural variantiVAR_064781 | 414 | H → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853837EnsemblClinVar. | 1 | |
Natural variantiVAR_010174 | 421 | G → E in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853855EnsemblClinVar. | 1 | |
Natural variantiVAR_010175 | 424 | N → D in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853856EnsemblClinVar. | 1 | |
Natural variantiVAR_010176 | 451 | D → G in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853850EnsemblClinVar. | 1 | |
Natural variantiVAR_064782 | 451 | D → N in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853838EnsemblClinVar. | 1 | |
Natural variantiVAR_064783 | 457 | R → G in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853839EnsemblClinVar. | 1 | |
Natural variantiVAR_010177 | 463 | F → S in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853851EnsemblClinVar. | 1 | |
Natural variantiVAR_064784 | 468 | E → G in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853841EnsemblClinVar. | 1 | |
Natural variantiVAR_064785 | 468 | E → K in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853840EnsemblClinVar. | 1 | |
Natural variantiVAR_023957 | 478 – 479 | Missing in OCRL. | 2 | |
Natural variantiVAR_064787 | 495 | P → L in OCRL. 1 Publication | 1 | |
Natural variantiVAR_010178 | 498 | C → Y in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853857EnsemblClinVar. | 1 | |
Natural variantiVAR_064788 | 499 | D → H in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853842EnsemblClinVar. | 1 | |
Natural variantiVAR_010179 | 500 | R → G in OCRL. Corresponds to variant dbSNP:rs398123287EnsemblClinVar. | 1 | |
Natural variantiVAR_010180 | 500 | R → Q in OCRL. 3 PublicationsCorresponds to variant dbSNP:rs137853260EnsemblClinVar. | 1 | |
Natural variantiVAR_064789 | 503 | W → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853843EnsemblClinVar. | 1 | |
Natural variantiVAR_010181 | 508 | V → D in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853849EnsemblClinVar. | 1 | |
Natural variantiVAR_010182 | 513 | Y → C in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853847EnsemblClinVar. | 1 | |
Natural variantiVAR_010183 | 522 | S → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853853EnsemblClinVar. | 1 | |
Natural variantiVAR_010184 | 524 | H → Q in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853261EnsemblClinVar. | 1 | |
Natural variantiVAR_010185 | 524 | H → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853852EnsemblClinVar. | 1 | |
Natural variantiVAR_023958 | 526 | P → L in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853858EnsemblClinVar. | 1 | |
Natural variantiVAR_010187 | 533 | I → S in OCRL. | 1 | |
Natural variantiVAR_064790 | 591 | N → K in OCRL. 2 PublicationsCorresponds to variant dbSNP:rs137853844EnsemblClinVar. | 1 | |
Natural variantiVAR_064791 | 742 | Missing in OCRL. 1 Publication | 1 | |
Natural variantiVAR_010188 | 768 | I → N in OCRL; uncertain pathological significance; abolishes FAM109A-, FAM109B- and APPL1-binding. 2 Publications | 1 | |
Natural variantiVAR_010189 | 797 | A → P in OCRL; uncertain pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs935956958EnsemblClinVar. | 1 | |
Natural variantiVAR_064793 | 801 | P → L in OCRL. 1 Publication | 1 | |
Natural variantiVAR_064794 | 891 | L → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853845EnsemblClinVar. | 1 |
Dent disease 2 (DD2)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_022698 | 318 | R → C in DD2 and OCRL. 3 PublicationsCorresponds to variant dbSNP:rs137853263EnsemblClinVar. | 1 | |
Natural variantiVAR_064777 | 354 | N → H in DD2. 1 PublicationCorresponds to variant dbSNP:rs137853833EnsemblClinVar. | 1 | |
Natural variantiVAR_022699 | 479 | Y → C in DD2. 1 PublicationCorresponds to variant dbSNP:rs137853262EnsemblClinVar. | 1 | |
Natural variantiVAR_064786 | 493 | R → W in DD2. 1 PublicationCorresponds to variant dbSNP:rs137853846EnsemblClinVar. | 1 | |
Natural variantiVAR_064792 | 799 | P → L in DD2. 1 Publication | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 422 | D → A: Does not affect interaction with RAB8A. 1 Publication | 1 | |
Mutagenesisi | 499 | D → A: Does not affect interaction with RAB8A. 1 Publication | 1 | |
Mutagenesisi | 668 | F → V: Does not interact with RAB8A. Does not localize to cilia. 1 Publication | 1 |
Keywords - Diseasei
Cataract, Ciliopathy, Disease variantOrganism-specific databases
DisGeNETi | 4952 |
GeneReviewsi | OCRL |
MalaCardsi | OCRL |
MIMi | 300555, phenotype 309000, phenotype |
OpenTargetsi | ENSG00000122126 |
Orphaneti | 93623, Dent disease type 2 534, Oculocerebrorenal syndrome of Lowe |
PharmGKBi | PA31896 |
Miscellaneous databases
Pharosi | Q01968, Tbio |
Genetic variation databases
BioMutai | OCRL |
DMDMi | 67477390 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000209721 | 1 – 901 | Inositol polyphosphate 5-phosphatase OCRLAdd BLAST | 901 |
Proteomic databases
EPDi | Q01968 |
jPOSTi | Q01968 |
MassIVEi | Q01968 |
MaxQBi | Q01968 |
PaxDbi | Q01968 |
PeptideAtlasi | Q01968 |
PRIDEi | Q01968 |
ProteomicsDBi | 58022 [Q01968-1] 58023 [Q01968-2] |
TopDownProteomicsi | Q01968-2 [Q01968-2] |
PTM databases
DEPODi | OCRL |
iPTMneti | Q01968 |
MetOSitei | Q01968 |
PhosphoSitePlusi | Q01968 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000122126, Expressed in esophagogastric junction muscularis propria and 214 other tissues |
ExpressionAtlasi | Q01968, baseline and differential |
Genevisiblei | Q01968, HS |
Organism-specific databases
HPAi | ENSG00000122126, Low tissue specificity |
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 PublicationsBinary interactionsi
Hide detailsQ01968
Isoform B [Q01968-2]
GO - Molecular functioni
- Rac GTPase binding Source: FlyBase
Protein-protein interaction databases
BioGRIDi | 111006, 67 interactors |
DIPi | DIP-45092N |
IntActi | Q01968, 202 interactors |
MINTi | Q01968 |
STRINGi | 9606.ENSP00000360154 |
Miscellaneous databases
RNActi | Q01968, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q01968 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q01968 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 1 – 119 | PHAdd BLAST | 119 | |
Domaini | 721 – 901 | Rho-GAPPROSITE-ProRule annotationAdd BLAST | 181 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 237 – 563 | 5-phosphataseAdd BLAST | 327 | |
Regioni | 564 – 678 | ASHAdd BLAST | 115 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 73 – 77 | Clathrin box 1 | 5 | |
Motifi | 702 – 706 | Clathrin box 2 | 5 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG0565, Eukaryota |
GeneTreei | ENSGT00940000157996 |
HOGENOMi | CLU_006779_3_1_1 |
InParanoidi | Q01968 |
OMAi | LECAHDS |
PhylomeDBi | Q01968 |
TreeFami | TF317034 |
Family and domain databases
CDDi | cd09093, INPP5c_INPP5B, 1 hit cd13382, PH_OCRL1, 1 hit |
Gene3Di | 1.10.555.10, 1 hit 2.60.40.10, 1 hit 3.60.10.10, 1 hit |
InterProi | View protein in InterPro IPR036691, Endo/exonu/phosph_ase_sf IPR005135, Endo/exonuclease/phosphatase IPR013783, Ig-like_fold IPR000300, IPPc IPR037793, OCRL1/INPP5B_INPP5c IPR037787, OCRL1_PH IPR031995, OCRL_clath-bd IPR008936, Rho_GTPase_activation_prot IPR000198, RhoGAP_dom |
Pfami | View protein in Pfam PF03372, Exo_endo_phos, 1 hit PF16726, OCRL_clath_bd, 1 hit PF00620, RhoGAP, 1 hit |
SMARTi | View protein in SMART SM00128, IPPc, 1 hit SM00324, RhoGAP, 1 hit |
SUPFAMi | SSF48350, SSF48350, 1 hit SSF56219, SSF56219, 1 hit |
PROSITEi | View protein in PROSITE PS50238, RHOGAP, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A2R8YG38 | A0A2R8YG38_HUMAN | Inositol polyphosphate 5-phosphatas... | OCRL | 466 | Annotation score: | ||
A0A2R8YCN4 | A0A2R8YCN4_HUMAN | Inositol polyphosphate 5-phosphatas... | OCRL | 286 | Annotation score: | ||
A0A2R8YF88 | A0A2R8YF88_HUMAN | Inositol polyphosphate 5-phosphatas... | OCRL | 69 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 180 | P → L in BAF85796 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 321 | G → E in AAI44107 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064773 | 242 | F → S in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853828EnsemblClinVar. | 1 | |
Natural variantiVAR_064774 | 274 | I → T in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853829EnsemblClinVar. | 1 | |
Natural variantiVAR_064775 | 277 | Q → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853830EnsemblClinVar. | 1 | |
Natural variantiVAR_022698 | 318 | R → C in DD2 and OCRL. 3 PublicationsCorresponds to variant dbSNP:rs137853263EnsemblClinVar. | 1 | |
Natural variantiVAR_064776 | 337 | R → C in OCRL; associated with I-361. 1 PublicationCorresponds to variant dbSNP:rs137853831EnsemblClinVar. | 1 | |
Natural variantiVAR_010169 | 337 | R → P in OCRL. | 1 | |
Natural variantiVAR_064777 | 354 | N → H in DD2. 1 PublicationCorresponds to variant dbSNP:rs137853833EnsemblClinVar. | 1 | |
Natural variantiVAR_010170 | 357 | G → E in OCRL; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs137853854EnsemblClinVar. | 1 | |
Natural variantiVAR_064778 | 361 | R → I in OCRL; associated with C-337. 1 PublicationCorresponds to variant dbSNP:rs137853832EnsemblClinVar. | 1 | |
Natural variantiVAR_010171 | 367 | Missing in OCRL. 1 Publication | 1 | |
Natural variantiVAR_010172 | 372 | V → G in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853834EnsemblClinVar. | 1 | |
Natural variantiVAR_064779 | 373 | N → Y in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853835EnsemblClinVar. | 1 | |
Natural variantiVAR_064780 | 374 | S → F in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853836EnsemblClinVar. | 1 | |
Natural variantiVAR_010173 | 375 | H → Y in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853848EnsemblClinVar. | 1 | |
Natural variantiVAR_064781 | 414 | H → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853837EnsemblClinVar. | 1 | |
Natural variantiVAR_010174 | 421 | G → E in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853855EnsemblClinVar. | 1 | |
Natural variantiVAR_010175 | 424 | N → D in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853856EnsemblClinVar. | 1 | |
Natural variantiVAR_010176 | 451 | D → G in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853850EnsemblClinVar. | 1 | |
Natural variantiVAR_064782 | 451 | D → N in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853838EnsemblClinVar. | 1 | |
Natural variantiVAR_064783 | 457 | R → G in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853839EnsemblClinVar. | 1 | |
Natural variantiVAR_010177 | 463 | F → S in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853851EnsemblClinVar. | 1 | |
Natural variantiVAR_064784 | 468 | E → G in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853841EnsemblClinVar. | 1 | |
Natural variantiVAR_064785 | 468 | E → K in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853840EnsemblClinVar. | 1 | |
Natural variantiVAR_023957 | 478 – 479 | Missing in OCRL. | 2 | |
Natural variantiVAR_022699 | 479 | Y → C in DD2. 1 PublicationCorresponds to variant dbSNP:rs137853262EnsemblClinVar. | 1 | |
Natural variantiVAR_064786 | 493 | R → W in DD2. 1 PublicationCorresponds to variant dbSNP:rs137853846EnsemblClinVar. | 1 | |
Natural variantiVAR_064787 | 495 | P → L in OCRL. 1 Publication | 1 | |
Natural variantiVAR_010178 | 498 | C → Y in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853857EnsemblClinVar. | 1 | |
Natural variantiVAR_064788 | 499 | D → H in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853842EnsemblClinVar. | 1 | |
Natural variantiVAR_010179 | 500 | R → G in OCRL. Corresponds to variant dbSNP:rs398123287EnsemblClinVar. | 1 | |
Natural variantiVAR_010180 | 500 | R → Q in OCRL. 3 PublicationsCorresponds to variant dbSNP:rs137853260EnsemblClinVar. | 1 | |
Natural variantiVAR_064789 | 503 | W → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853843EnsemblClinVar. | 1 | |
Natural variantiVAR_010181 | 508 | V → D in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853849EnsemblClinVar. | 1 | |
Natural variantiVAR_010182 | 513 | Y → C in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853847EnsemblClinVar. | 1 | |
Natural variantiVAR_010183 | 522 | S → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853853EnsemblClinVar. | 1 | |
Natural variantiVAR_010184 | 524 | H → Q in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853261EnsemblClinVar. | 1 | |
Natural variantiVAR_010185 | 524 | H → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853852EnsemblClinVar. | 1 | |
Natural variantiVAR_023958 | 526 | P → L in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853858EnsemblClinVar. | 1 | |
Natural variantiVAR_010187 | 533 | I → S in OCRL. | 1 | |
Natural variantiVAR_064790 | 591 | N → K in OCRL. 2 PublicationsCorresponds to variant dbSNP:rs137853844EnsemblClinVar. | 1 | |
Natural variantiVAR_064791 | 742 | Missing in OCRL. 1 Publication | 1 | |
Natural variantiVAR_010188 | 768 | I → N in OCRL; uncertain pathological significance; abolishes FAM109A-, FAM109B- and APPL1-binding. 2 Publications | 1 | |
Natural variantiVAR_010189 | 797 | A → P in OCRL; uncertain pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs935956958EnsemblClinVar. | 1 | |
Natural variantiVAR_064792 | 799 | P → L in DD2. 1 Publication | 1 | |
Natural variantiVAR_064793 | 801 | P → L in OCRL. 1 Publication | 1 | |
Natural variantiVAR_064794 | 891 | L → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853845EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_002681 | 707 – 714 | Missing in isoform B. 2 Publications | 8 |
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 Genomic DNA No translation available. AL138745 Genomic DNA No translation available. AL662877 Genomic DNA No translation available. 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 |
CCDSi | CCDS35393.1 [Q01968-1] CCDS35394.1 [Q01968-2] |
PIRi | S29069 |
RefSeqi | NP_000267.2, NM_000276.3 [Q01968-1] NP_001578.2, NM_001587.3 [Q01968-2] |
Genome annotation databases
Ensembli | ENST00000357121; ENSP00000349635; ENSG00000122126 [Q01968-2] ENST00000371113; ENSP00000360154; ENSG00000122126 [Q01968-1] |
GeneIDi | 4952 |
KEGGi | hsa:4952 |
UCSCi | uc004euq.4, human [Q01968-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 Genomic DNA No translation available. AL138745 Genomic DNA No translation available. AL662877 Genomic DNA No translation available. 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 |
CCDSi | CCDS35393.1 [Q01968-1] CCDS35394.1 [Q01968-2] |
PIRi | S29069 |
RefSeqi | NP_000267.2, NM_000276.3 [Q01968-1] NP_001578.2, NM_001587.3 [Q01968-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2KIE | NMR | - | A | 1-119 | [»] | |
2QV2 | X-ray | 2.40 | A | 564-901 | [»] | |
3QBT | X-ray | 2.00 | B/D/F/H | 540-678 | [»] | |
3QIS | X-ray | 2.30 | A | 536-901 | [»] | |
4CMN | X-ray | 3.13 | A | 215-560 | [»] | |
SMRi | Q01968 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 111006, 67 interactors |
DIPi | DIP-45092N |
IntActi | Q01968, 202 interactors |
MINTi | Q01968 |
STRINGi | 9606.ENSP00000360154 |
Chemistry databases
SwissLipidsi | SLP:000001182 |
PTM databases
DEPODi | OCRL |
iPTMneti | Q01968 |
MetOSitei | Q01968 |
PhosphoSitePlusi | Q01968 |
Genetic variation databases
BioMutai | OCRL |
DMDMi | 67477390 |
Proteomic databases
EPDi | Q01968 |
jPOSTi | Q01968 |
MassIVEi | Q01968 |
MaxQBi | Q01968 |
PaxDbi | Q01968 |
PeptideAtlasi | Q01968 |
PRIDEi | Q01968 |
ProteomicsDBi | 58022 [Q01968-1] 58023 [Q01968-2] |
TopDownProteomicsi | Q01968-2 [Q01968-2] |
Protocols and materials databases
ABCDi | Q01968, 1 sequenced antibody |
Antibodypediai | 509, 345 antibodies |
Genome annotation databases
Ensembli | ENST00000357121; ENSP00000349635; ENSG00000122126 [Q01968-2] ENST00000371113; ENSP00000360154; ENSG00000122126 [Q01968-1] |
GeneIDi | 4952 |
KEGGi | hsa:4952 |
UCSCi | uc004euq.4, human [Q01968-1] |
Organism-specific databases
CTDi | 4952 |
DisGeNETi | 4952 |
GeneCardsi | OCRL |
GeneReviewsi | OCRL |
HGNCi | HGNC:8108, OCRL |
HPAi | ENSG00000122126, Low tissue specificity |
MalaCardsi | OCRL |
MIMi | 300535, gene 300555, phenotype 309000, phenotype |
neXtProti | NX_Q01968 |
OpenTargetsi | ENSG00000122126 |
Orphaneti | 93623, Dent disease type 2 534, Oculocerebrorenal syndrome of Lowe |
PharmGKBi | PA31896 |
VEuPathDBi | HostDB:ENSG00000122126.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0565, Eukaryota |
GeneTreei | ENSGT00940000157996 |
HOGENOMi | CLU_006779_3_1_1 |
InParanoidi | Q01968 |
OMAi | LECAHDS |
PhylomeDBi | Q01968 |
TreeFami | TF317034 |
Enzyme and pathway databases
BioCyci | MetaCyc:HS04546-MONOMER |
BRENDAi | 3.1.3.36, 2681 |
PathwayCommonsi | Q01968 |
Reactomei | R-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 |
SignaLinki | Q01968 |
Miscellaneous databases
BioGRID-ORCSi | 4952, 6 hits in 505 CRISPR screens |
ChiTaRSi | OCRL, human |
EvolutionaryTracei | Q01968 |
GeneWikii | OCRL |
GenomeRNAii | 4952 |
Pharosi | Q01968, Tbio |
PROi | PR:Q01968 |
RNActi | Q01968, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000122126, Expressed in esophagogastric junction muscularis propria and 214 other tissues |
ExpressionAtlasi | Q01968, baseline and differential |
Genevisiblei | Q01968, HS |
Family and domain databases
CDDi | cd09093, INPP5c_INPP5B, 1 hit cd13382, PH_OCRL1, 1 hit |
Gene3Di | 1.10.555.10, 1 hit 2.60.40.10, 1 hit 3.60.10.10, 1 hit |
InterProi | View protein in InterPro IPR036691, Endo/exonu/phosph_ase_sf IPR005135, Endo/exonuclease/phosphatase IPR013783, Ig-like_fold IPR000300, IPPc IPR037793, OCRL1/INPP5B_INPP5c IPR037787, OCRL1_PH IPR031995, OCRL_clath-bd IPR008936, Rho_GTPase_activation_prot IPR000198, RhoGAP_dom |
Pfami | View protein in Pfam PF03372, Exo_endo_phos, 1 hit PF16726, OCRL_clath_bd, 1 hit PF00620, RhoGAP, 1 hit |
SMARTi | View protein in SMART SM00128, IPPc, 1 hit SM00324, RhoGAP, 1 hit |
SUPFAMi | SSF48350, SSF48350, 1 hit SSF56219, SSF56219, 1 hit |
PROSITEi | View protein in PROSITE PS50238, RHOGAP, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | OCRL_HUMAN | |
Accessioni | Q01968Primary (citable) accession number: Q01968 Secondary accession number(s): A6NKI1 Q9UMA5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 1, 1993 |
Last sequence update: | June 7, 2005 | |
Last modified: | February 10, 2021 | |
This is version 217 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants