1. Gene
  2. OCRL - OCRL inositol polyphosphate-5-phosphatase Gene

OCRL - OCRL inositol polyphosphate-5-phosphatase Gene

中文名称:OCRL 肌醇多磷酸 5 磷酸酶

种属: Homo sapiens

同用名: LOCR; DENT2; NPHL2; OCRL1; Dent-2; INPP5F; OCRL-1

基因 ID: 4952 | 基因类型: protein coding

关于 OCRL

Cytogenetic location: Xq26.1 Genomic coordinates (GRCh38): X:129,540,259-129,592,556 (from NCBI)

This gene has 10 transcripts (splice variants), 223 orthologues, 13 paralogues and is associated with 6 phenotypes. Broad expression in testis (RPKM 21.7), adrenal (RPKM 15.8) and 25 other tissues.

功能概要

该基因编码肌醇多磷酸 5-磷酸酶。这种蛋白质参与调节膜运输,位于许多亚细胞位置,包括反式高尔基体网络、网格蛋白包被的小泡和核内体和质膜。这种蛋白质也可能在初级纤毛形成中发挥作用。该基因的突变会导致 Lowe 眼脑肾综合征和 Dent 病。交替剪接导致多个转录本变体。[RefSeq 提供,2016 年 1 月]

This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

OCRL 基因产物(3)

mRNA Protein Name
NM_000276.4 NP_000267.2 inositol polyphosphate 5-phosphatase OCRL isoform a
NM_001318784.2 NP_001305713.1 inositol polyphosphate 5-phosphatase OCRL isoform c
NM_001587.4 NP_001578.2 inositol polyphosphate 5-phosphatase OCRL isoform b
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GTPase activator activity IDA
IDA: 通过直接分析推断
12915445 GOA
enables inositol phosphate phosphatase activity IDA
IDA: 通过直接分析推断
25869668 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12915445 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
12915445 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cilium assembly IMP
IMP: 通过突变表型推断
22228094 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in clathrin-coated vesicle IDA
IDA: 通过直接分析推断
21233288 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
12915445 GOA
located in early endosome IDA
IDA: 通过直接分析推断
21233288 GOA
located in nucleus IDA
IDA: 通过直接分析推断
12915445 GOA
located in photoreceptor outer segment IDA
IDA: 通过直接分析推断
22543976 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
12915445 GOA
located in trans-Golgi network IDA
IDA: 通过直接分析推断
12915445 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

OCRL 蛋白结构

Exo_endo_phos

Exo_endo_phos: Endonuclease/Exonuclease/phosphatase family (245 - 524)

RhoGAP

RhoGAP: RhoGAP domain (735 - 874)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 901 a.a.
蛋白主名 其他名称

inositol polyphosphate 5-phosphatase OCRL

Lowe oculocerebrorenal syndrome protein

OCRL 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
OCRL Q01968 RAB1B Homo sapiens Q9H0U4
GMS
21378754
种属内
OCRL Q01968 RAB1B Homo sapiens Q9H0U4
Anti Tag CoIP
25107275
种属内
OCRL Q01968 RAB6A Homo sapiens P20340
Pull Down
16902405
种属内
OCRL Q01968 RAB6A Homo sapiens P20340
Anti Tag CoIP
25107275
种属内
OCRL Q01968 RAB6A Homo sapiens P20340
GMS
21378754
种属内
OCRL Q01968 RAB6A Homo sapiens P20340
FPS
21378754
种属内
OCRL Q01968 RAB6A Homo sapiens P20340
ELISA
16902405
种属内
OCRL Q01968 RAB6A Homo sapiens P20340
Anti Tag CoIP
33961781
种属内
OCRL Q01968 RAB14 Homo sapiens P61106
ELISA
16902405
种属内
OCRL Q01968 RAB14 Homo sapiens P61106
Pull Down
16902405
种属内
OCRL Q01968 CLTC Homo sapiens Q00610
Anti Tag CoIP
25107275
种属内
OCRL Q01968 CLTC Homo sapiens Q00610
Pull Down
16902405
种属内
OCRL Q01968 RAB5A Homo sapiens P20339
Pull Down
16902405
种属内
OCRL Q01968 RAB5A Homo sapiens P20339
Imaging
16902405
种属内
OCRL Q01968 RAB5A Homo sapiens P20339
Anti Tag CoIP
25107275
种属内
OCRL Q01968 RAB5A Homo sapiens P20339
ELISA
16902405
种属内
OCRL Q01968 RAB5A Homo sapiens P20339
Y2H
16902405
种属内
OCRL Q01968 RAB5A Homo sapiens P20339
FPS
21378754
种属内
OCRL Q01968 RAC1 Homo sapiens P63000
IF
12915445
种属内
OCRL Q01968 RAC1 Homo sapiens P63000
Pull Down
12915445
种属内
OCRL Q01968 RAB1A Homo sapiens P62820
Y2H
16902405
种属内
OCRL Q01968 RAB1A Homo sapiens P62820
Pull Down
16902405
种属内
OCRL Q01968 RAB1A Homo sapiens P62820
ELISA
16902405
种属内
OCRL Q01968 RAB1A Homo sapiens P62820
Anti Tag CoIP
25107275
种属内
OCRL Q01968 RAB8A Homo sapiens P61006
ELISA
16902405
种属内
OCRL Q01968 RAB8A Homo sapiens P61006
Y2H
16902405
种属内
OCRL Q01968 RAB8A Homo sapiens P61006
FPS
21378754
种属内
OCRL Q01968 RAB8A Homo sapiens P61006
GMS
21378754
种属内
OCRL Q01968 RAB8A Homo sapiens P61006
Pull Down
16902405
种属内
OCRL Q01968 PHETA1 Homo sapiens Q8N4B1
Anti Tag CoIP
33961781
种属内
OCRL Q01968 PHETA1 Homo sapiens Q8N4B1
Anti Tag CoIP
35271311
种属内
OCRL Q01968 PHETA1 Homo sapiens Q8N4B1
Anti Tag CoIP
25107275
种属间
OCRL Q01968 Cltc Mus musculus Q68FD5
Pull Down
25107275
种属内
OCRL Q01968 SNX9 Homo sapiens Q9Y5X1
Anti Tag CoIP
25107275
种属间
OCRL Q01968 Snx9 Mus musculus Q91VH2
Pull Down
25107275
种属间
OCRL Q01968 Cltc Rattus norvegicus P11442
Pull Down
19536138
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Lowe Oculocerebrorenal Syndrome

Lowe Syndrome

Oculocerebrorenal Syndrome

OCRL

Oculocerebrorenal Syndrome Of Lowe

Ocrl1

Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency

Lowe Disease

Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency

Cerebrooculorenal Syndrome

Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency

Lowe Oculo-Cerebro-Renal Dystrophy

Lowe Oculo-Cerebro-Renal Syndrome

Lowe Oculocerebrorenal Dystrophy

Low

Chromosome 11p Deletion Syndrome

Oculocerebrorenal Dystrophy

Cerebro-Oculorenal Dystrophy

Ocrl1 - [Oculocerebrorenal Syndrome]

Lowe-Terrey-Maclachlan Syndrome

Renal-Oculocerebrodystrophy

Dent Disease 2

Dent Disease Type 2

DENT2

Dent Disease, Type 2

Dent Disease 1

Dent Disease

Dent'S Disease

Dent Disease 2

Dent Disease Type 1

DENT1

Urolithiasis, Hypercalciuric, X-Linked

Nephrolithiasis 2

Nphl2

Dent Syndrome

Dents Disease

Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis

Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones

X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets

X-Linked Recessive Nephrolithiasis

Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones

Nephrolithiasis, Hypercalciuric, X-Linked

Nephrolithiasis-Hypercalciuria X-Linked Recessive

Nephrolithiasis, X-Linked Recessive

Dent Disease, Type 1

Renal Tubular Acidosis

Acidosis Renal Tubular

Acidosis, Renal Tubular

Lightwood-Albright Syndrome

Lightwood Syndrome

Idiopathic Infantile Hypercalcemia - Mild Form

Kidney Tubular Acidosis

Renal Tubule Acidosis

Kidney Acidosis

Renal Acidosis

Renal Hyperchloremic Acidosis

Rta - [Renal Tubular Acidosis]

Rickets

Vitamin D Deficiency

Vitamin D

Active Rickets

Hypovitaminosis D

Nutritional Rickets

Vitamin D Deficiency Disease

Vitamin-D Deficiency Rickets

Vitamin D-Dependent Rickets

Avitaminosis D

Infantile Osteomalacia

Juvenile Osteomalacia

Fanconi Syndrome

Infantile Nephropathic Cystinosis

Adult Fanconi Syndrome

Congenital Fanconi Syndrome

De Toni-Fanconi Syndrome

Fanconi-De Toni Syndrome

Lignac-Fanconi Syndrome

Fanconi Renotubular Syndrome

Primary Fanconi Renotubular Syndrome

De Toni-Debre-Fanconi Syndrome

Adult Fanconi Anemia

Detoni Fanconi Syndrome

Fanconi-De-Toni Syndrome

Primary Fanconi Syndrome

Detoni-Debre-Fanconi Syndrome

Primary Fanconi Renal Syndrome

Fanconi Anemia

Cystinosis, Infantile Nephropathic

Fanconi-Bickel Syndrome

Renal Fanconi Syndrome

Lowe-Bickel Syndrome

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Cataract-Glaucoma

Cataract-Glaucoma Syndrome

Nephrocalcinosis

Hypercalcemic Nephropathy

Lens Disease

Lens Diseases

Ablepharon-Macrostomia Syndrome

Ablepharon Macrostomia Syndrome

AMS

Congenital Ablepharon, Absent Eyelashes/Eyebrows, Macrostomia, Auricular, Nasal, Genital And Other Systemic Anomalies

Eye Abnormalities

Hypophosphatemia

Vitamin D-Resistant Rickets

Hereditary Hypophosphatemic Rickets

Vdrr

Vitamin D Resistant Rickets

Hypophosphatemic Rickets, X-Linked Dominant

Familial Hypophosphatemic Rickets

Donnai-Barrow Syndrome

Faciooculoacousticorenal Syndrome

Dbs/Foar Syndrome

Foar Syndrome

Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome

Facio-Oculo-Acoustico-Renal Syndrome

Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria

Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome

Holmes-Schepens Syndrome

Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness

DBS

Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria

Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis

Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome

Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss

Donnai Barrow Syndrome

Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

Aminoaciduria
Bardet-Biedl Syndrome 5

BBS5

Bardet-Biedl Syndrome, Type 5

Hypophosphatemic Rickets, X-Linked Recessive

Hypophosphatemic Rickets

X-Linked Recessive Hypophosphatemic Rickets

XLRHR

Hypophosphatemic Rickets Disorders

Rickets Hypophosphatemic

Rickets, Hypophosphatemic, X-Linked Recessive

Familial Hypophosphatemic Rickets

Legionnaire Disease

Legionnaires' Disease

Legionnaires Disease

Legionnaire Disease, Susceptibility To

Legionella

Legionella Pneumonia

Infection By Legionella Pneumophilia

Legionnaire'S Disease

Legionellosis

Legionaire Disease, Susceptibility To

Legionnaires Pneumonia

Hypophosphatemic Rickets With Hypercalciuria, Hereditary

Hereditary Hypophosphatemic Rickets With Hypercalciuria

HHRH

Hypophosphatemic Rickets With Hypercalciuria

Hypercalciuric Rickets

Legionellosis

Legionella Infection

Pontiac Fever

Legionnaires' Disease

Infection By Legionella Pneumophilia

Legionella Pneumophila Infection

Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome

Glaucoma 3, Primary Congenital, A

Buphthalmos

Glaucoma, Congenital

Congenital Glaucoma

Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset

GLC3A

Glc3

Buphthalmia

Primary Congenital Glaucoma

Glaucoma, Primary Open Angle, Juvenile-Onset

Simple Buphthalmos

Buphthalmus

Glaucoma, Primary Open Angle, Adult-Onset

Primary Congenital Glaucoma 3a

Primary Infantile Glaucoma Type 3a

Glaucoma 3a, Primary Congenital

Glaucoma, Congenital, Primary, Type 3a

Hydrophthalmos

Cystic Eyeball

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

Cystinosis

Cystine Storage Disease

Cystine Diathesis

Cystine Disease

Cystinoses

Protein Defect Of Cystin Transport

Cystin Transport, Protein Defect Of

Nephropathic Cystinosis

Protein Defect Of Cystine Transport

Stereotypic Movement Disorder

Stereotypy Habit Disorder

Stereotyped Repetitive Movements

Stereotyped Disorder

Stereotypes Nos

Stereotype Habit Disorder

Alport Syndrome

Hereditary Nephritis

Alport Syndrome, X-Linked

Hemorrhagic Hereditary Nephritis

Congenital Hereditary Hematuria

Hemorrhagic Familial Nephritis

Familial Nephritis

Thin Basement Membrane Disease

Thin Basement Membrane Nephropathy

Hematuria-Nephropathy-Deafness Syndrome

Hematuric Hereditary Nephritis

Hereditary Familial Congenital Hemorrhagic Nephritis

Hereditary Hematuria Syndrome

Hereditary Interstitial Pyelonephritis

Alport Deafness-Nephropathy

Alport Hearing Loss-Nephropathy

Alports Syndrome

Nephritis, Hereditary

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Canis familiaris OCRL VGNC VGNC:44095
Rattus norvegicus OCRL RGD RGD:1594526
Felis catus OCRL VGNC VGNC:68616
Mus musculus OCRL MGD MGI:109589
Macaca mulatta OCRL VGNC VGNC:75577
Bos taurus OCRL VGNC VGNC:32398