1. Gene
  2. ROBO1 - roundabout guidance receptor 1 Gene

ROBO1 - roundabout guidance receptor 1 Gene

中文名称:环岛引导接收器 1

种属: Homo sapiens

同用名: SAX3; DUTT1

基因 ID: 6091 | 基因类型: protein coding

关于 ROBO1

Cytogenetic location: 3p12.3 Genomic coordinates (GRCh38): 3:78,597,239-79,767,998 (from NCBI)

This gene has 12 transcripts (splice variants), 283 orthologues, 36 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 11.9), skin (RPKM 9.4) and 23 other tissues.

功能概要

双侧对称神经系统具有特殊的中线结构,可在两个镜像半部分之间建立分隔。一些轴突投射到中线并穿过中线,以响应从中线发出的远程趋化因子。该基因的产物是免疫球蛋白基因超家族的成员,编码一种在轴突导向和神经元前体细胞迁移中起作用的完整膜蛋白。该受体被 SLIT 家族蛋白激活,从而对发育中的大脑中的神经胶质瘤细胞导向产生排斥作用。相关基因位于 3 号染色体上的相邻区域。已发现该基因编码不同亚型的多个转录变体。[RefSeq 提供,2009 年 3 月]

Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

ROBO1 基因产物(3)

mRNA Protein Name
NM_001145845.2 NP_001139317.1 roundabout homolog 1 isoform d
NM_002941.4 NP_002932.1 roundabout homolog 1 isoform a precursor
NM_133631.4 NP_598334.2 roundabout homolog 1 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 LRR domain binding IPI
IPI: 通过物理相互作用推断
17848514 GOA
enables axon guidance receptor activity IDA
IDA: 通过直接分析推断
17848514 GOA
enables identical protein binding IDA
IDA: 通过直接分析推断
12504588 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12504588 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Roundabout signaling pathway IMP
IMP: 通过突变表型推断
18829537 GOA
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
IMP: 通过突变表型推断
18566128 GOA
involved in cell migration involved in sprouting angiogenesis IMP
IMP: 通过突变表型推断
19351956 GOA
involved in chemorepulsion involved in postnatal olfactory bulb interneuron migration IDA
IDA: 通过直接分析推断
15207848 GOA
involved in homophilic cell adhesion via plasma membrane adhesion molecules IDA
IDA: 通过直接分析推断
12504588 GOA
involved in negative regulation of cell migration IMP
IMP: 通过突变表型推断
26529257 GOA
involved in negative regulation of chemokine-mediated signaling pathway IMP
IMP: 通过突变表型推断
18829537 GOA
involved in negative regulation of mammary gland epithelial cell proliferation IMP
IMP: 通过突变表型推断
18829537 GOA
involved in negative regulation of negative chemotaxis IDA
IDA: 通过直接分析推断
11748139 GOA
involved in positive regulation of MAP kinase activity IMP
IMP: 通过突变表型推断
21385766 GOA
involved in positive regulation of Rho protein signal transduction IMP
IMP: 通过突变表型推断
26529257 GOA
involved in positive regulation of axonogenesis IDA
IDA: 通过直接分析推断
12504588 GOA
involved in positive regulation of vascular endothelial growth factor receptor signaling pathway IMP
IMP: 通过突变表型推断
21385766 GOA
involved in positive regulation of vascular endothelial growth factor signaling pathway IMP
IMP: 通过突变表型推断
21385766 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
12504588 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
18566128 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

ROBO1 蛋白结构

I-set

I-set: Immunoglobulin I-set domain (68 - 165)

I-set

I-set: Immunoglobulin I-set domain (172 - 257)

I-set

I-set: Immunoglobulin I-set domain (262 - 347)

I-set

I-set: Immunoglobulin I-set domain (351 - 445)

I-set

I-set: Immunoglobulin I-set domain (455 - 542)

fn3

fn3: Fibronectin type III domain (562 - 646)

fn3

fn3: Fibronectin type III domain (685 - 750)

fn3

fn3: Fibronectin type III domain (778 - 864)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1651 a.a.
蛋白主名 其他名称

roundabout homolog 1

deleted in U twenty twenty

关联疾病

疾病名称 别名
Pituitary Stalk Interruption Syndrome

Ectopic Neurohypophysis

Psis

Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1

Congenital Nystagmus

Nystagmus, Congenital

Nystagmus Congenital

Renal Agenesis, Bilateral

Bilateral Renal Agenesis

Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Dyslexia
Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Reading Disorder

Specific Reading Disorder

Reading

Dyslexia

Developmental Reading Disorder

Corneal Neovascularization

Corneal Neovascularisation

Corneal Vascularisation

Extensive Superficial Corneal Vascularisation

Learning Disability

Learning Disabilities

Learning Disorders

Academic Skill Disorder

Learning Disorder

Specific Language Impairment

Language Impairment, Specific

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Hypermethioninemia Due To Adenosine Kinase Deficiency

Adk Hypermethioninemia

Hypermethioninemia Encephalopathy Due To Adenosine Kinase Deficiency

Hypermethioninemia Encephalopathy Due To Adk Deficiency

Mrt8

Mental Retardation, Autosomal Recessive 8, Formerly

Mrt8, Formerly

HMAKD

Mental Retardation, Autosomal Recessive 8

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Speech Disorder

Speech Disorders

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia

Cdh

Congenital Diaphragmatic Defect

Hernia, Diaphragmatic

Dih

Hernia, Congenital Diaphragmatic

Hcd

Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Diaphragmatic Hernia 1

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hernia, Diaphragmatic, Type 1

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect

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
Mus musculus ROBO1 MGD MGI:1274781
Rattus norvegicus ROBO1 RGD RGD:61941
Macaca mulatta ROBO1 VGNC VGNC:76713
Canis familiaris ROBO1 VGNC VGNC:45684
Felis catus ROBO1 VGNC VGNC:102830
Bos taurus ROBO1 VGNC VGNC:34078
Others ROBO1 NCBI