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  2. ATRIP - ATR interacting protein Gene

ATRIP - ATR interacting protein Gene

中文名称:ATR 相互作用蛋白

种属: Homo sapiens

基因 ID: 84126 | 基因类型: protein coding

关于 ATRIP

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:48,446,737-48,467,645 (from NCBI)

This gene has 9 transcripts (splice variants), 120 orthologues and is associated with 1 phenotype. Broad expression in testis (RPKM 11.6), thyroid (RPKM 3.8) and 23 other tissues.

功能概要

该基因编码 DNA 损伤检查点的重要组成部分。编码的蛋白质与涂有复制蛋白 A 的单链 DNA 结合。该蛋白质还与共济失调毛细血管扩张症和 Rad3 相关蛋白激酶相互作用,导致其在 DNA 损伤诱导的核内聚集。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2012 年 8 月]

This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]

ATRIP 基因产物(4)

mRNA Protein Name
NM_001271022.2 NP_001257951.1 ATR-interacting protein isoform 3
NM_001271023.2 NP_001257952.1 ATR-interacting protein isoform 4
NM_032166.4 NP_115542.2 ATR-interacting protein isoform 2
NM_130384.3 NP_569055.1 ATR-interacting protein isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables K63-linked polyubiquitin modification-dependent protein binding IDA
IDA: 通过直接分析推断
24332808 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
14657349 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of ATR-ATRIP complex IPI
IPI: 通过物理相互作用推断
11721054 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
蛋白主名 其他名称

ATR-interacting protein

ATM and Rad3-related-interacting protein

ATRIP 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 ATRIP Q8WXE1 TASOR2 Homo sapiens Q5VWN6-2
Y2H Array
25416956
Intra ATRIP Q8WXE1 TASOR2 Homo sapiens Q5VWN6-2
Y2H Prey Pooling
25416956
Intra ATRIP Q8WXE1 MID2 Homo sapiens Q9UJV3-2
Y2H Array
25416956
Intra ATRIP Q8WXE1 MID2 Homo sapiens Q9UJV3-2
Validated Y2H
25416956
Intra ATRIP Q8WXE1 MX2 Homo sapiens P20592
Y2H Prey Pooling
25416956
Intra ATRIP Q8WXE1 MX2 Homo sapiens P20592
Y2H Array
25416956
Intra ATRIP Q8WXE1 PCTK1 Homo sapiens Q9BRL4
Y2H Array
25416956
Intra ATRIP Q8WXE1 CCDC28B Homo sapiens Q9BUN5
Y2H Array
25416956
Intra ATRIP Q8WXE1 POLR1C Homo sapiens O15160
Y2H Prey Pooling
25416956
Intra ATRIP Q8WXE1 POLR1C Homo sapiens O15160
Validated Y2H
25416956
Intra ATRIP Q8WXE1 MOS Homo sapiens P00540
Validated Y2H
25416956
Intra ATRIP Q8WXE1 CDC23 Homo sapiens Q9UJX2
Y2H Prey Pooling
25416956
Intra ATRIP Q8WXE1 CINP Homo sapiens Q9BW66
Anti Tag CoIP
19889979
Intra ATRIP Q8WXE1 CINP Homo sapiens Q9BW66
Y2H
19889979
Intra ATRIP Q8WXE1 LNX1 Homo sapiens Q8TBB1
Y2H Array
25416956
Intra ATRIP Q8WXE1 FAM156B Homo sapiens Q8NDB6
Validated Y2H
25416956
Intra ATRIP Q8WXE1 FAM156B Homo sapiens Q8NDB6
Y2H Array
25416956
Intra ATRIP Q8WXE1 FAM156B Homo sapiens Q8NDB6
Y2H Prey Pooling
25416956
Intra ATRIP Q8WXE1 METTL21A Homo sapiens Q8WXB1
Y2H Prey Pooling
25416956
Intra ATRIP Q8WXE1 C1orf94 Homo sapiens Q6P1W5
Validated Y2H
25416956
Intra ATRIP Q8WXE1 C1orf94 Homo sapiens Q6P1W5
Y2H Prey Pooling
25416956
Intra ATRIP Q8WXE1 ATR Homo sapiens Q13535
Anti Tag CoIP
33961781
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
Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism

Aicardi-Goutieres Syndrome 1

AGS1

Ags

Cree Encephalitis

Pseudotoxoplasmosis Syndrome

Aicardi-Goutieres Syndrome 1, Dominant And Recessive

Pseudo-Torch Syndrome

Encephalopathy, Familial Infantile, With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

Autosomal Dominant Aicardi-Goutieres Syndrome

Encephalopathy Familial Infantile With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

Aicardi-Goutieres Syndrome, Type 1, Dominant And Recessive

Aicardi-Goutieres Syndrome 5

Chilblain Lupus 1

Chilblain Lupus

CHBL1

Chilblain Lupus Erythematosus

Chle

Hutchinson Lupus

Chilblain Lupus, Type 1

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

Seckel Syndrome 1

SCKL1

Nanocephalic Dwarfism

Microcephalic Primordial Dwarfism I

Seckel-Type Dwarfism

Bird-Headed Dwarfism

Sckl

Seckel Syndrome, Type 1

Seckel Syndrome

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]

Thrombotic Microangiopathy

Tma

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1

Cadasil

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Casil

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Familial Vascular Leukoencephalopathy

CADASIL1

Cadasil 1

Hereditary Multi-Infarct Dementia

Cadasil Syndrome

Dementia, Hereditary Multiinfarct Type

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1

Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 1

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts Leukoencephalopathy

Dementia, Hereditary Multi-Infarct Type

Hereditary Dementia, Multi-Infarct Type

Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 1

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant

Dementia Hereditary Multiinfarct Type

Dementia Hereditary Multi-Infarct Type

Arteriopathy, Cerebral, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy

Familial Chilblain Lupus
Vascular Dementia

Dementia, Vascular

Multi Infarct Dementia

Multifocal Dementia

Dementia Vascular

Vascular Dementia, Susceptibility To

Dementia, Multi-Infarct

Multi-Infarct Dementia

Ataxia-Telangiectasia

Ataxia Telangiectasia

Louis-Bar Syndrome

AT

At1

Ataxia-Telangiectasia Syndrome

Ataxia - Telangiectasia Variant

Boder-Sedgwick Syndrome

Louis Bar Syndrome

Cerebello-Oculocutaneous Telangiectasia

Immunodeficiency With Ataxia Telangiectasia

A-T

Ataxia Telangiectasia Syndrome

Atm

Telangiectasia, Cerebello-Oculocutaneous

Ataxia-Telangiectasia Variant

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum

Autosomal Recessive Cerebellar Ataxia

Arca

Lig4 Syndrome

Dna Ligase Iv Deficiency

Ligase 4 Syndrome

LIG4S

Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome

Ear, Patella, Short Stature Syndrome

Microtia, Absent Patellae, Micrognathia Syndrome

MGORS1

Eps

Ear-Patella-Short Stature Syndrome

Ear Patella Short Stature Syndrome

Microtia Absent Patellae Micrognathia Syndrome

Meier-Gorlin Syndrome, Type 1

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia

Primordial Dwarfism

Isolated Growth Hormone Deficiency Type Ia

Sexual Ateleiotic Dwarfism

Pituitary Dwarfism I

IGHD1A

Illig-Type Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, Type Ia

Congenital Ighd Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism 1

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 1a

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated Autosomal Recessive

Illig Type Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, 1a

Growth Hormone Deficiency Isolated Autosomal Recessive

Dwarfism, Primordial

Dwarfism

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

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 ATRIP VGNC VGNC:49885
Macaca mulatta ATRIP VGNC VGNC:84235
Mus musculus ATRIP MGD MGI:1925349
Bos taurus ATRIP VGNC VGNC:50170
Felis catus ATRIP VGNC VGNC:69356
Others ATRIP NCBI