1. Gene
  2. APBB1 - amyloid beta precursor protein binding family B member 1 Gene

APBB1 - amyloid beta precursor protein binding family B member 1 Gene

中文名称:淀粉样蛋白前体蛋白结合家族 B 成员 1

种属: Homo sapiens

同用名: RIR; FE65; MGC:9072

基因 ID: 322 | 基因类型: protein coding

关于 APBB1

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:6,395,124-6,419,453 (from NCBI)

This gene has 20 transcripts (splice variants), 208 orthologues and 2 paralogues. Broad expression in brain (RPKM 44.0), ovary (RPKM 11.7) and 17 other tissues.

功能概要

由该基因编码的蛋白质是 Fe65 蛋白质家族的成员。它是一种位于细胞核中的衔接蛋白。它与阿尔茨海默病淀粉样前体蛋白 (APP) 、转录因子 CP2/LSF/LBP1 和低密度脂蛋白受体相关蛋白相互作用。 APP 作为胞质锚定位点发挥作用,可以阻止基因产物的核转位。这种编码的蛋白质可能在阿尔茨海默病的发病机制中发挥重要作用。它被认为可以调节转录。还观察到通过下调胸苷酸合酶表达来阻断细胞周期进程。已针对该基因描述了编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供,2012 年 3 月]

The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating Thymidylate Synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]

APBB1 基因产物(8)

mRNA Protein Name
NM_001164.5 NP_001155.1 amyloid beta precursor protein binding family B member 1 isoform a
NM_001257319.3 NP_001244248.1 amyloid beta precursor protein binding family B member 1 isoform g
NM_001257320.2 NP_001244249.1 amyloid beta precursor protein binding family B member 1 isoform d
NM_001257321.2 NP_001244250.1 amyloid beta precursor protein binding family B member 1 isoform d
NM_001257323.3 NP_001244252.1 amyloid beta precursor protein binding family B member 1 isoform f
NM_001257325.3 NP_001244254.1 amyloid beta precursor protein binding family B member 1 isoform e
NM_001257326.2 NP_001244255.1 amyloid beta precursor protein binding family B member 1 isoform d
NM_145689.3 NP_663722.1 amyloid beta precursor protein binding family B member 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 chromatin binding IDA
IDA: 通过直接分析推断
19343227 GOA
enables histone binding IPI
IPI: 通过物理相互作用推断
19234442 GOA
enables molecular adaptor activity IDA
IDA: 通过直接分析推断
36250347 GOA
enables proline-rich region binding IPI
IPI: 通过物理相互作用推断
17686488 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
8887653 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
25342469 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IDA
IDA: 通过直接分析推断
18468999 GOA
involved in negative regulation of transcription by RNA polymerase II IGI
IGI: 通过遗传相互作用推断
21803450 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
19343227 GOA
involved in positive regulation of apoptotic process IDA
IDA: 通过直接分析推断
18468999 GOA
involved in positive regulation of neuron projection development IDA
IDA: 通过直接分析推断
36250347 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
18468999 GOA
located in growth cone IDA
IDA: 通过直接分析推断
12843239 GOA
located in lamellipodium IDA
IDA: 通过直接分析推断
12843239 GOA
located in nucleus IDA
IDA: 通过直接分析推断
18468999 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
18468999 GOA
located in synapse IDA
IDA: 通过直接分析推断
12843239 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

APBB1 蛋白结构

WW

WW: WW domain (255 - 283)

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (370 - 508)

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (543 - 664)

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

amyloid beta precursor protein binding family B member 1

adaptor protein FE65a2

APBB1 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 APBB1 O00213 LRP1 Homo sapiens Q07954
NMR
21968187
Intra APBB1 O00213 LRP1 Homo sapiens Q07954
Pull Down
24284412
Intra APBB1 O00213 EGFR Homo sapiens P00533
Protein Array
16273093
Intra APBB1 O00213 APP Homo sapiens P05067-4
NMR
21968187
Intra APBB1 O00213 APP Homo sapiens P05067-4
Pull Down
21968187
Intra APBB1 O00213 ARF6 Homo sapiens P62330
Y2H
24056087
Intra APBB1 O00213 ARF6 Homo sapiens P62330
Pull Down
24056087
Intra APBB1 O00213 APP Homo sapiens P05067
Pull Down
24284412
Intra APBB1 O00213 APP Homo sapiens P05067
Anti Tag CoIP
33961781
Intra APBB1 O00213 APP Homo sapiens P05067
Anti Tag CoIP
8887653
Intra APBB1 O00213 APP Homo sapiens P05067
Anti Bait CoIP
8887653
Intra APBB1 O00213 APLP2 Homo sapiens Q06481
Anti Tag CoIP
33961781
Cross APBB1 O00213 Sv2a Rattus norvegicus Q02563
Confocal
24284412
Cross APBB1 O00213 Sv2a Rattus norvegicus Q02563
Anti Tag CoIP
24284412
Cross APBB1 O00213 Sv2a Rattus norvegicus Q02563
Anti Bait CoIP
24284412
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
Niemann-Pick Disease, Type A

Niemann-Pick Disease Type A

Sphingomyelin Lipidosis

Sphingomyelinase Deficiency

Niemann-Pick Disease, Intermediate, Protracted Neurovisceral

Acid Sphingomyelinase Deficiency, Neurovisceral Type

Asmd, Neurovisceral Type

Infantile Neurovisceral Acid Sphingomyelinase Deficiency

Infantile Neurovisceral Asmd

Npd-A

Niemann-Pick Disease A

NPDA

Classical Niemann-Pick Disease

Niemann-Pick Disease Acute Neuronopathic Form

Niemann-Pick Disease Acute Neurovisceral Form

Niemann-Pick Disease Classical Infantile Form

Niemann-Pick Disease Intermediate Protracted Neurovisceral

Niemann-Pick Disease Neuronopathic Type

Niemann-Pick Disease Type I

Npa

Niemann-Pick Diseases

Niemann-Pick Disease, Type B

Niemann-Pick Disease Type B

Acid Sphingomyelinase Deficiency, Visceral Type

Asmd, Visceral Type

Niemann Pick Disease Type B

Chronic Visceral Acid Sphingomyelinase Deficiency

Chronic Visceral Asmd

Npd-B

Niemann-Pick Disease B

NPDB

Niemann-Pick Disease Adult Non-Neuronopathic Form

Niemann-Pick Disease Intermediate With Visceral Involvement And Rapid Progression

Niemann-Pick Disease Type E

Niemann-Pick Disease Type F

Niemann-Pick Disease Type I

Niemann-Pick Disease Visceral Form

Npb

Sphingomyelinase Deficiency

Sphingomyelin Lipidosis

Niemann-Picks Disease Type B

Niemann-Pick Disease, Type E

Niemann-Pick Diseases

Niemann-Pick Disease, Type A

Niemann-Pick Disease

Sphingomyelin/Cholesterol Lipidosis

Niemann-Pick Diseases

Lipoid Histiocytosis

Sphingomyelin Lipidosis

Sphingomyelinase Deficiency Disease

Lipid Histiocytosis

Neuronal Cholesterol Lipidosis

Neuronal Lipidosis

Npd

Sphingomyelinase Deficiency

Niemann-Pick Disease, Type A

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C

NPC1

Niemann-Pick Disease, Type D

Niemann-Pick Disease Type C1

Niemann-Pick Disease With Cholesterol Esterification Block

Niemann-Pick Disease, Subacute Juvenile Form

Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia

Npc

Niemann-Pick Disease, Chronic Neuronopathic Form

Niemann-Pick Disease Without Sphingomyelinase Deficiency

Niemann-Pick Disease Type C

Niemann-Pick Disease Type D

Niemann-Pick C1 Disease

Niemann-Pick Disease C1

Niemann-Pick Disease Chronic Neuronopathic Form

Niemann-Pick Disease Nova Scotian Type

Niemann-Pick Disease Subacute Juvenile Form

Niemann-Pick Disease Type Ii

Niemann-Picks Disease Type C

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

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 APBB1 MGD MGI:107765
Macaca mulatta APBB1 VGNC VGNC:69979
Felis catus APBB1 VGNC VGNC:67736
Bos taurus APBB1 VGNC VGNC:26003
Rattus norvegicus APBB1 RGD RGD:2122
Canis familiaris APBB1 VGNC VGNC:37977