1. Gene
  2. ADAR - adenosine deaminase RNA specific Gene

ADAR - adenosine deaminase RNA specific Gene

中文名称:腺苷脱氨酶 RNA 特异性

种属: Homo sapiens

同用名: DSH; AGS6; G1P1; IFI4; P136; ADAR1; DRADA; DSRAD; IFI-4; K88DSRBP

基因 ID: 103 | 基因类型: protein coding

关于 ADAR

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:154,582,057-154,627,997 (from NCBI)

This gene has 33 transcripts (splice variants), 213 orthologues, 14 paralogues and is associated with 8 phenotypes. Ubiquitous expression in spleen (RPKM 49.6), appendix (RPKM 40.8) and 25 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进行 RNA 编辑的酶。这种酶通过将腺苷转化为肌苷来破坏双链 RNA 的稳定性。该基因的突变与遗传性对称性色素沉着症有关。可变剪接导致多个转录本变体。[RefSeq 提供,2010 年 7 月]

This gene encodes the Enzyme responsible for RNA editing by site-specific deamination of adenosines. This Enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

ADAR 基因产物(10)

mRNA Protein Name
NM_001025107.3 NP_001020278.1 double-stranded RNA-specific adenosine deaminase isoform d
NM_001111.5 NP_001102.3 double-stranded RNA-specific adenosine deaminase isoform a
NM_001193495.2 NP_001180424.1 double-stranded RNA-specific adenosine deaminase isoform d
NM_001365045.1 NP_001351974.1 double-stranded RNA-specific adenosine deaminase isoform e
NM_001365046.1 NP_001351975.1 double-stranded RNA-specific adenosine deaminase isoform d
NM_001365047.1 NP_001351976.1 double-stranded RNA-specific adenosine deaminase isoform d
NM_001365048.1 NP_001351977.1 double-stranded RNA-specific adenosine deaminase isoform d
NM_001365049.1 NP_001351978.1 double-stranded RNA-specific adenosine deaminase isoform f
NM_015840.4 NP_056655.3 double-stranded RNA-specific adenosine deaminase isoform b
NM_015841.4 NP_056656.3 double-stranded RNA-specific adenosine deaminase isoform c
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 double-stranded RNA adenosine deaminase activity IDA
IDA: 通过直接分析推断
9020165 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18362360 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
19124606 GOA
located in nucleus IDA
IDA: 通过直接分析推断
18362360 GOA
part of supraspliceosomal complex IDA
IDA: 通过直接分析推断
18362360 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

ADAR 蛋白结构

z-alpha

z-alpha: Adenosine deaminase z-alpha domain (136 - 200)

z-alpha

z-alpha: Adenosine deaminase z-alpha domain (295 - 359)

dsrm

dsrm: Double-stranded RNA binding motif (504 - 567)

dsrm

dsrm: Double-stranded RNA binding motif (615 - 680)

dsrm

dsrm: Double-stranded RNA binding motif (728 - 792)

A_deamin

A_deamin: Adenosine-deaminase (editase) domain (886 - 1217)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1226 a.a.
蛋白主名 其他名称

double-stranded RNA-specific adenosine deaminase

136 kDa double-stranded RNA-binding protein

ADAR 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
Intra ADAR P55265 TARDBP Homo sapiens Q13148
Validated Y2H
32814053
Intra ADAR P55265 TARDBP Homo sapiens Q13148
Y2H Pooling
32814053
Intra ADAR P55265 TARDBP Homo sapiens Q13148
Y2H Array
32814053
Cross ADAR P55265 NS Influenza A virus P03496
Y2H Array
23853584
Cross ADAR P55265 NS Influenza A virus P03496
Pull Down
23853584
Cross ADAR P55265 NS Influenza A virus P03496
IF
23853584
Cross ADAR P55265 Q99IB8-PRO_0000045599 Hepatitis C virus Q99IB8-PRO_0000045599
Y2H
24136289
Cross ADAR P55265 Q99IB8-PRO_0000045599 Hepatitis C virus Q99IB8-PRO_0000045599
Split-Luc
24136289
Cross ADAR P55265 P14340-PRO_0000037965 Dengue virus type 2 P14340-PRO_0000037965
Pull Down
23853584
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
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

Aicardi-Goutieres Syndrome 6

AGS6

Pseudo-Torch Syndrome

Cree Encephalitis

Aicardi-Goutieres Syndrome, Type 6

Aicardi-Goutieres Syndrome 1

Familial Infantile Bilateral Striatal Necrosis

Familial Ibsn

Familial Infantile Striatonigral Degeneration

Familial Infantile Striatonigral Necrosis

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

Measles

Rubeola

Morbilli

Measles Nos

Koplik Spots

Stomatitis
Cervical Non-Keratinizing Squamous Cell Carcinoma
Hepatitis D

Delta Hepatitis

Hepatitis Delta

Hdv

Hepatitis D Virus

Hepatitis D Infection

Cervical Keratinizing Squamous Cell Carcinoma
Adenosine Deaminase Deficiency

Ada Deficiency

Ada-Scid

Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Adenosine Deaminase Deficient Severe Combined Immunodeficiency

Scid Due To Ada Deficiency

Severe Combined Immunodeficiency Due To Ada Deficiency

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency

Ada

Scid Due To Adenosine Deaminase Deficiency

Adult Liposarcoma
Dyschromatosis Universalis Hereditaria

Duh

Lymphocytic Choriomeningitis

Lcm

Lymphocytic Meningitis

Lymphocytic Choriomeningitis Virus Encephalomyelitis

Lymphocytic Meningoencephalitis

Non-Arthropod Borne Lymphocytic Choriomeningitis

Lcm - [Lymphocytic Choriomeningitis]

Benign Lymphocytic Meningitis

Meningitis Due To Lymphocytic Choriomeningitis Virus

Pigmentation Disease

Pigmentation Disorders

Skin Pigmentation Disorder

Human Immunodeficiency Virus Type 1

Aids

Hiv/Aids

Aids, Delayed/Rapid Progression To

Hiv-1, Susceptibility To

Hiv-1 Viremia, Susceptibility To

Human Immunodeficiency Virus Type 1, Susceptibility To

Hiv-1

Aids, Slow Progression To

Rapid Progression To Aids From Hiv1 Infection

Hiv1 Infection, Resistance To

Hiv1 Infection

Hiv-1 Viremia

Aids, Resistance To

Aids, Rapid Progression To

Hiv/Aids, Susceptibility To

Hiv-1, Resistance To

Hiv1, Resistance To

Hiv1

Hiv-1 Disease, Delayed Progression Of

Hiv-1 Disease, Rapid Progression Of

Hiv Infection, Resistance To

Hiv Type 1, Susceptibility To

Hiv Type 1

Hiv-1 Infection

Human Immunodeficiency Virus I Infection

Acquired Immunodeficiency Syndrome

Hiv-Infection/Aids

Reticulate Acropigmentation Of Kitamura

RAK

Acropigmentatio Reticularis

Reticulate Pigmentation Of Kitamura

Rpk

Kitamura Reticulate Acropigmentation

Rapk

Childhood Astrocytic Tumor

Juvenile Astrocytoma

Pediatric Astrocytoma

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Chilblain Lupus 1

Chilblain Lupus

CHBL1

Chilblain Lupus Erythematosus

Chle

Hutchinson Lupus

Chilblain Lupus, Type 1

Sting-Associated Vasculopathy With Onset In Infancy

Savi

Sting-Associated Vasculopathy, Infantile Onset

Sting-Associated Vasculopathy, Infantile-Onset

Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations

Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations

Crv

Rvcl

Rvcl-S

Vasculopathy, Retinal, With Cerebral Leukodystrophy

Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Retinal Vasculopathy With Cerebral Leukodystrophy

Retinal Vasculopathy And Cerebral Leukoencephalopathy

Hereditary Vascular Retinopathy

Hvr

RVCLS

Cerebroretinal Vasculopathy, Hereditary

Cerebroretinal Vasculopathy

Herns

Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly

Hereditary Cerebroretinal Vasculopathy

Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke

Hereditary Systemic Angiopathy

Hsa

Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations

Adrvcl

Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy

Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke

Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Basal Ganglia Disease

Basal Ganglia Diseases

Basal Ganglia Disorders

Abnormality Of The Basal Ganglia

Basal Ganglia Calcification

Fahr'S Syndrome

Fahr'S Disease

Fahr Disease

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

Torch Syndrome
Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Microphthalmia With Limb Anomalies

Waardenburg Anophthalmia Syndrome

Ophthalmoacromelic Syndrome

OAS

MLA

Anophthalmia-Syndactyly

Anophthalmia-Syndactyly Syndrome

Anophthalmos With Limb Anomalies

Anophthalmia Waardenburg Syndrome

Anophthalmos-Syndactyly

Ophthalmo-Acromelic Syndrome

Anophthalmia-Waardenburg Syndrome

Anophthalmos-Limb Anomalies Syndrome

Syndactyly-Anophthalmos Syndrome

Microphthalmia, With Limb Anomalies

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Methylmalonic Aciduria And Homocystinuria, Cblx Type

Mental Retardation, X-Linked 3

Methylmalonic Acidemia With Homocystinuria, Type Cblx

MAHCX

Intellectual Developmental Disorder, X-Linked 3

Xlid3

Mrx3

Methylmalonic Acidemia And Homocysteinemia Cblx Type

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx

Methylmalonic Aciduria With Homocystinuria, Type Cblx

Methylmalonic Acidemia And Homocysteinemia, Cblx Type

Methylmalonic Aciduria And Homocysteinemia, Cblx Type

Methylmalonic Aciduria And Homocysteinemia , Cblx Type

Mental Retardation, X-Linked, Type 3

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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 ADAR VGNC VGNC:37612
Macaca mulatta ADAR VGNC VGNC:69502
Bos taurus ADAR VGNC VGNC:25635
Mus musculus ADAR MGD MGI:1889575
Rattus norvegicus ADAR RGD RGD:71099
Felis catus ADAR VGNC VGNC:59606