1. Gene
  2. ADARB1 - adenosine deaminase RNA specific B1 Gene

ADARB1 - adenosine deaminase RNA specific B1 Gene

中文名称:腺苷脱氨酶 RNA 特异性 B1

种属: Homo sapiens

同用名: RED1; ADAR2; DRABA2; DRADA2; NEDHYMS

基因 ID: 104 | 基因类型: protein coding

关于 ADARB1

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:45,074,578-45,226,563 (from NCBI)

This gene has 15 transcripts (splice variants), 294 orthologues, 14 paralogues and is associated with 2 phenotypes. Ubiquitous expression in lung (RPKM 5.2), urinary bladder (RPKM 3.4) and 24 other tissues.

功能概要

该基因编码负责通过腺苷位点特异性脱氨作用对谷氨酸受体亚基 B 进行 pre-mRNA 编辑的酶。对大鼠的研究发现,这种酶作用于其自身的 pre-mRNA 分子,将 AA 二核苷酸转化为 AI 二核苷酸,从而产生新的剪接位点。该基因的选择性剪接会产生几种转录变体,其中一些变体的特征在于是否存在 ALU 盒插入片段和短或长的 C 末端区域。[RefSeq 提供,2008 年 7 月]

This gene encodes the Enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this Enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008]

ADARB1 基因产物(7)

mRNA Protein Name
NM_001112.4 NP_001103.1 double-stranded RNA-specific editase 1 isoform 1
NM_001160230.2 NP_001153702.1 double-stranded RNA-specific editase 1 isoform 7
NM_001346687.2 NP_001333616.1 double-stranded RNA-specific editase 1 isoform 8
NM_001346688.2 NP_001333617.1 double-stranded RNA-specific editase 1 isoform 7
NM_001410722.1 NP_001397651.1 double-stranded RNA-specific editase 1 isoform 9
NM_015833.4 NP_056648.1 double-stranded RNA-specific editase 1 isoform 2
NM_015834.4 NP_056649.1 double-stranded RNA-specific editase 1 isoform 3
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 RNA binding EXP
EXP: 通过实验结果推断
27065196 GOA
enables RNA binding IDA
IDA: 通过直接分析推断
9111310 GOA
enables double-stranded RNA adenosine deaminase activity IDA
IDA: 通过直接分析推断
8995285 GOA
enables double-stranded RNA binding IDA
IDA: 通过直接分析推断
8995285 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21847096 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in RNA processing IDA
IDA: 通过直接分析推断
9149227 GOA
involved in adenosine to inosine editing IDA
IDA: 通过直接分析推断
18178553 GOA
involved in base conversion or substitution editing IDA
IDA: 通过直接分析推断
32220291 GOA
involved in negative regulation of cell migration IDA
IDA: 通过直接分析推断
18178553 GOA
involved in negative regulation of cell population proliferation IDA
IDA: 通过直接分析推断
18178553 GOA
involved in negative regulation of protein kinase activity by regulation of protein phosphorylation IDA
IDA: 通过直接分析推断
21289159 GOA
involved in positive regulation of viral genome replication IMP
IMP: 通过突变表型推断
21289159 GOA
involved in regulation of cell cycle IDA
IDA: 通过直接分析推断
18178553 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleolus IDA
IDA: 通过直接分析推断
18178553 GOA
located in nucleus IDA
IDA: 通过直接分析推断
8995285 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

ADARB1 蛋白结构

dsrm

dsrm: Double-stranded RNA binding motif (79 - 140)

dsrm

dsrm: Double-stranded RNA binding motif (237 - 294)

A_deamin

A_deamin: Adenosine-deaminase (editase) domain (370 - 733)

(471 - 490)

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

double-stranded RNA-specific editase 1

RNA editing deaminase 1

ADARB1 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
ADARB1 P78563 CSNK2A1 Homo sapiens P68400 32814053
种属内
ADARB1 P78563 CSNK2A1 Homo sapiens P68400 32814053
种属内
ADARB1 P78563 CSNK2A1 Homo sapiens P68400 32814053
种属内
ADARB1 P78563 PIN1 Homo sapiens Q13526
IF
21847096
种属内
ADARB1 P78563 PIN1 Homo sapiens Q13526 21847096
种属内
ADARB1 P78563 PIN1 Homo sapiens Q13526 21847096
种属内
ADARB1 P78563 JUN Homo sapiens P05412 32814053
种属内
ADARB1 P78563 JUN Homo sapiens P05412 32814053
种属内
ADARB1 P78563 JUN Homo sapiens P05412 32814053
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
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures

NEDHYMS

Dyschromatosis Symmetrica Hereditaria

Dyschromatosis Symmetrica Hereditaria 1

Reticulate Acropigmentation Of Dohi

DSH

Dsh1

Symmetric Dyschromatosis Of The Extremities

Rad

Familial Reticulate Acropigmentation Of Dohi

Acropigmentation Of Dohi

Symmetrical Dyschromatosis Of Extremities

Childhood Astrocytic Tumor

Juvenile Astrocytoma

Pediatric Astrocytoma

Borna Disease

Enzootic Encephalomyelitis

Hepatitis D

Delta Hepatitis

Hepatitis Delta

Hdv

Hepatitis D Virus

Hepatitis D Infection

Cortical Blindness

Blindness, Cortical

Aicardi-Goutieres Syndrome

Aicardi Goutieres Syndrome

Cree Encephalitis

Aicardi-Goutières Syndrome

Encephalopathy With Basal Ganglia Calcification

Ags

Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid

Pseudotoxoplasmosis Syndrome

Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis

Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

Aicardi-Goutieres Syndrome 1

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Gastric Tubular Adenocarcinoma

Tubular Adenocarcinoma Of Stomach

Pigmentation Disease

Pigmentation Disorders

Skin Pigmentation Disorder

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

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 ADARB1 VGNC VGNC:69503
Mus musculus ADARB1 MGD MGI:891999
Felis catus ADARB1 VGNC VGNC:59607
Bos taurus ADARB1 VGNC VGNC:25636
Canis familiaris ADARB1 VGNC VGNC:53019
Rattus norvegicus ADARB1 RGD RGD:2033