1. Gene
  2. RORA - RAR related orphan receptor A Gene

RORA - RAR related orphan receptor A Gene

中文名称:RAR 相关孤儿受体 A

种属: Homo sapiens

同用名: ROR1; ROR2; ROR3; RZRA; NR1F1; IDDECA; RZR-ALPHA

基因 ID: 6095 | 基因类型: protein coding

关于 RORA

Cytogenetic location: 15q22.2 Genomic coordinates (GRCh38): 15:60,488,284-61,229,302 (from NCBI)

This gene has 14 transcripts (splice variants), 395 orthologues, 18 paralogues and is associated with 2 phenotypes. Broad expression in skin (RPKM 15.9), adrenal (RPKM 10.1) and 21 other tissues.

功能概要

该基因编码的蛋白质是核激素受体 NR1 亚家族的成员。它可以作为单体或作为同型二聚体与几个基因上游的激素反应元件结合,以增强这些基因的表达。编码的蛋白质已显示与 NM23-2 相互作用,NM23-2 是一种参与器官发生和分化的核苷二磷酸激酶,以及与肿瘤转移抑制候选基因的产物 NM23-1 相互作用。此外,它已被证明有助于某些与昼夜节律有关的基因的转录调节。已针对该基因描述了编码不同亚型的四种转录物变体。[RefSeq 提供,2014 年 2 月]

The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]

RORA 基因产物(11)

mRNA Protein Name
XM_047432928.1 XP_047288884.1 nuclear receptor ROR-alpha isoform X4
XM_011521877.4 XP_011520179.1 nuclear receptor ROR-alpha isoform X3
NM_134260.3 NP_599022.1 nuclear receptor ROR-alpha isoform b
XM_011521874.2 XP_011520176.1 nuclear receptor ROR-alpha isoform X1
XM_011521879.4 XP_011520181.1 nuclear receptor ROR-alpha isoform X5
NM_134261.3 NP_599023.1 nuclear receptor ROR-alpha isoform a
XM_011521875.3 XP_011520177.1 nuclear receptor ROR-alpha isoform X2
XM_047432929.1 XP_047288885.1 nuclear receptor ROR-alpha isoform X4
XM_047432930.1 XP_047288886.1 nuclear receptor ROR-alpha isoform X4
NM_002943.4 NP_002934.1 nuclear receptor ROR-alpha isoform c
NM_134262.3 NP_599024.1 nuclear receptor ROR-alpha isoform d
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 DNA binding IDA
IDA: 通过直接分析推断
7926749 GOA
enables DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
7926749 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
21628546 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
19955433 GOA
enables ligand-activated transcription factor activity IDA
IDA: 通过直接分析推断
19965867 GOA
enables oxysterol binding IDA
IDA: 通过直接分析推断
19965867 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9862959 GOA
enables sequence-specific DNA binding IDA
IDA: 通过直接分析推断
11053433 GOA
enables transcription coactivator binding IPI
IPI: 通过物理相互作用推断
9862959 GOA
enables transcription coregulator binding IPI
IPI: 通过物理相互作用推断
14701856 GOA
enables transcription corepressor binding IPI
IPI: 通过物理相互作用推断
9328355 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
18658046 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

RORA 蛋白结构

zf-C4

zf-C4: Zinc finger, C4 type (two domains) (72 - 140)

Hormone_recep

Hormone_recep: Ligand-binding domain of nuclear hormone receptor (303 - 488)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 523 a.a.
蛋白主名 其他名称

nuclear receptor ROR-alpha

ROR-alpha

nuclear receptor RZR-alpha

nuclear receptor subfamily 1 group F member 1

retinoic acid receptor-related orphan receptor alpha

retinoid-related orphan receptor alpha

transcription factor RZR-alpha

RORA 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
RORA P35398 GFAP Homo sapiens P14136
Y2H Prey Pooling
25416956
种属内
RORA P35398 NR0B1 Homo sapiens P51843
Pull Down
16713569
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
Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Spinocerebellar Ataxia 1

Spinocerebellar Ataxia Type 1

SCA1

Olivopontocerebellar Atrophy I

Opca1

Opca4

Menzel Type Opca

Schut-Haymaker Type Opca

Spinocerebellar Atrophy I

Opca I

Olivopontocerebellar Atrophy Iv

Opca Iv

Cerebelloparenchymal Disorder I

Cpd1

Olivopontocerebellar Atrophy 1

Cerebelloparenchymal Disorder 1

Olivopontocerebellar Atrophy 4

Spinocerebellar Atrophy 1

Type 1 Spinocerebellar Ataxia

Spinocerebellar Ataxia-1

Ataxia, Spinocerebellar, Type 1

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Asthma

Chronic Obstructive Asthma

Asthma, Diminished Response To Antileukotriene Treatment In

Bronchial Hyperreactivity

Asthma, Susceptibility To

Asthma, Bronchial

Asthma, Protection Against

Asthma, Nocturnal, Susceptibility To

Nocturnal Asthma

Asthma-Related Traits

Asthma-Related Traits, Susceptibility To

Asthma, Nocturnal

Chronic Obstructive Asthma With Acute Exacerbation

Chronic Obstructive Asthma With Status Asthmaticus

Exercise Induced Asthma

Exercise-Induced Asthma

Bronchial Asthma

Asthma, Exercise-Induced

Idiosyncratic Asthma

Unspecified Asthma With Acute Exacerbation

Asthma, Unspecified, With Stated Status Asthmaticus

Status Asthmaticus Nos

Acute Severe Asthma

Acute Severe Bronchial Asthma

Status Asthma

Status Post Asthmaticus

Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia

IDDECA

Robinow Syndrome

Acral Dysostosis With Facial And Genital Abnormalities

Fetal Face Syndrome

Robinow Dwarfism

Mesomelic Dwarfism-Small Genitalia Syndrome

Robinow-Silverman-Smith Syndrome

Costovertebral Segmentation Defect With Mesomelia

Covesdem Syndrome

Robinow'S Syndrome

Robinow-Silverman Syndrome

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Bronchiectasis 3
Robinow Syndrome, Autosomal Recessive 1

Robinow Syndrome, Autosomal Recessive

Autosomal Recessive Robinow Syndrome

Covesdem Syndrome

RRS1

Costovertebral Segmentation Defect-Mesomelia Syndrome

Rrs

Costovertebral Segmentation Defect With Mesomelia, Formerly

Covesdem Syndrome, Formerly

Costovertebral Segmentation Defect With Mesomelia

Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly

Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly

Robinow, Autosomal Recessive Syndrome, Type 1

Epidermolysis Bullosa Acquisita

Acquired Epidermolysis Bullosa

Eb Acquisita

Eba

Eba - [Epidermolysis Bullosa Acquisita]

Major Depressive Disorder

Seasonal Affective Disorder

Unipolar Depression

Depression

MDD

Depressive Disorder

Unipolar Depression, Susceptibility To

Major Depressive Disorder 1

Major Depressive Disorder, Response To Citalopram Therapy In

Major Depressive Disorder 2

Winter Depression

Single Major Depressive Episode

Sad

Clinical Depression

Major Depression

Depressive Syndrome

Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment

Seasonal Affective Disorder, Susceptibility To

Recurrent Major Depression

Affective Disorder, Seasonal

Depression In A Seasonal Pattern

Depression

Seasonal

Major Depressive Disorder With A Seasonal Pattern

Seasonal Depression

Seasonal Mood Disorder

Mental Depression

Recurrent Major Depressive Episodes

Advanced Sleep Phase Syndrome

Fasps

Familial Advanced Sleep-Phase Syndrome

Advanced Sleep Phase Syndrome, Familial

Familial Advanced Sleep Phase Syndrome

Sleep Phase Syndrome, Advanced, Familial

Advanced Sleep-Phase Syndrome, Familial

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
Macaca mulatta RORA VGNC VGNC:76717
Felis catus RORA VGNC VGNC:64721
Canis familiaris RORA VGNC VGNC:45695
Mus musculus RORA MGD MGI:104661
Rattus norvegicus RORA RGD RGD:1308419
Bos taurus RORA VGNC VGNC:34088
Others RORA NCBI