1. Gene
  2. EIF2B1 - eukaryotic translation initiation factor 2B subunit alpha Gene

EIF2B1 - eukaryotic translation initiation factor 2B subunit alpha Gene

中文名称:真核翻译起始因子 2B 亚基α

种属: Homo sapiens

同用名: EIF2B; EIF2BA; EIF2Balpha

基因 ID: 1967 | 基因类型: protein coding

关于 EIF2B1

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:123,620,406-123,633,686 (from NCBI)

This gene has 6 transcripts (splice variants), 222 orthologues, 3 paralogues and is associated with 6 phenotypes. Ubiquitous expression in lymph node (RPKM 22.1), skin (RPKM 20.5) and 25 other tissues.

功能概要

该基因编码真核翻译起始因子 2B (EIF2B) 的五个亚基之一,真核翻译起始因子 2 的 GTP 交换因子和蛋白质合成的重要调节因子。该基因和编码其他 EIF2B 亚基的基因的突变与白质消失的白质脑病有关。[RefSeq 提供,2009 年 10 月]

This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding Other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009]

EIF2B1 基因产物(1)

mRNA Protein Name
NM_001414.4 NP_001405.1 translation initiation factor eIF-2B subunit alpha
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
contributes to guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
11323413 GOA
enables guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
25858979 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9235896 GOA
contributes to translation initiation factor activity IDA
IDA: 通过直接分析推断
16289705 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in T cell receptor signaling pathway IDA
IDA: 通过直接分析推断
8626696 GOA
involved in cytoplasmic translational initiation IDA
IDA: 通过直接分析推断
27023709 GOA
involved in oligodendrocyte development IMP
IMP: 通过突变表型推断
15217090 GOA
involved in translational initiation IDA
IDA: 通过直接分析推断
16289705 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
9235896 GOA
part of eukaryotic translation initiation factor 2B complex IDA
IDA: 通过直接分析推断
11323413 GOA
located in membrane IDA
IDA: 通过直接分析推断
9235896 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
9235896 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

EIF2B1 蛋白结构

IF-2B

IF-2B: Initiation factor 2 subunit family (16 - 293)

  • 0
  • 100
  • 200
  • 305 a.a.
蛋白主名 其他名称

translation initiation factor eIF-2B subunit alpha

eIF-2B GDP-GTP exchange factor subunit alpha

EIF2B1 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
EIF2B1 Q14232 UBE2I Homo sapiens Q7KZS0
Y2H Array
32296183
种属内
EIF2B1 Q14232 UBE2I Homo sapiens Q7KZS0
Y2H Prey Pooling
32296183
种属内
EIF2B1 Q14232 UBE2I Homo sapiens Q7KZS0
Validated Y2H
32296183
种属内
EIF2B1 Q14232 RD3 Homo sapiens Q7Z3Z2
Y2H Prey Pooling
32296183
种属内
EIF2B1 Q14232 RD3 Homo sapiens Q7Z3Z2
Validated Y2H
32296183
种属内
EIF2B1 Q14232 RD3 Homo sapiens Q7Z3Z2
Y2H Array
25416956
种属内
EIF2B1 Q14232 RD3 Homo sapiens Q7Z3Z2
Y2H Array
32296183
种属内
EIF2B1 Q14232 RD3 Homo sapiens Q7Z3Z2
Y2H Array
31515488
种属内
EIF2B1 Q14232 TRIM59 Homo sapiens Q8IWR1
Y2H Prey Pooling
32296183
种属内
EIF2B1 Q14232 TRIM59 Homo sapiens Q8IWR1
Y2H Array
32296183
种属内
EIF2B1 Q14232 TRIM59 Homo sapiens Q8IWR1
Validated Y2H
32296183
种属内
EIF2B1 Q14232 TRIML2 Homo sapiens Q8N7C3
Validated Y2H
32296183
种属内
EIF2B1 Q14232 C1orf50 Homo sapiens Q9BV19
Validated Y2H
32296183
种属内
EIF2B1 Q14232 C1orf50 Homo sapiens Q9BV19
Y2H Prey Pooling
32296183
种属内
EIF2B1 Q14232 C1orf50 Homo sapiens Q9BV19
Y2H Array
32296183
种属内
EIF2B1 Q14232 MED29 Homo sapiens Q9NX70
Y2H Prey Pooling
32296183
种属内
EIF2B1 Q14232 MED29 Homo sapiens Q9NX70
Validated Y2H
32296183
种属内
EIF2B1 Q14232 MED29 Homo sapiens Q9NX70
Y2H Array
32296183
种属内
EIF2B1 Q14232 EIF2B1 Homo sapiens Q14232
Y2H Array
25416956
种属内
EIF2B1 Q14232 EIF2B1 Homo sapiens Q14232
Y2H Array
25502805
种属内
EIF2B1 Q14232 NTAQ1 Homo sapiens Q96HA8
Validated Y2H
25416956
种属内
EIF2B1 Q14232 EIF2B1 Homo sapiens Q14232
Y2H Array
32296183
种属内
EIF2B1 Q14232 NTAQ1 Homo sapiens Q96HA8
Y2H Array
31515488
种属内
EIF2B1 Q14232 NTAQ1 Homo sapiens Q96HA8
Y2H Prey Pooling
25416956
种属内
EIF2B1 Q14232 EIF2B3 Homo sapiens Q9NR50
Anti Bait CoIP
17353931
种属内
EIF2B1 Q14232 EIF2B1 Homo sapiens Q14232
Y2H Prey Pooling
32296183
种属内
EIF2B1 Q14232 GORASP2 Homo sapiens Q9H8Y8
Y2H Array
31515488
种属内
EIF2B1 Q14232 EIF2B3 Homo sapiens Q9NR50
GMS
29599245
种属内
EIF2B1 Q14232 EIF2B3 Homo sapiens Q9NR50
3D-EM
29599245
种属内
EIF2B1 Q14232 EIF2B1 Homo sapiens Q14232
Y2H Array
31515488
种属内
EIF2B1 Q14232 GORASP2 Homo sapiens Q9H8Y8
Validated Y2H
32296183
种属内
EIF2B1 Q14232 EIF2B3 Homo sapiens Q9NR50
Anti Tag CoIP
33961781
种属内
EIF2B1 Q14232 EIF2B3 Homo sapiens Q9NR50
Anti Tag CoIP
28514442
种属内
EIF2B1 Q14232 GORASP2 Homo sapiens Q9H8Y8
Y2H Array
29892012
种属内
EIF2B1 Q14232 EIF2B1 Homo sapiens Q14232
Validated Y2H
32296183
种属间
EIF2B1 Q14232 Adra2a Mus musculus Q01338
Y2H
9235896
种属间
EIF2B1 Q14232 Adra2a Mus musculus Q01338
Pull Down
9235896
种属间
EIF2B1 Q14232 Adra2b Mus musculus P30545
Pull Down
9235896
种属间
EIF2B1 Q14232 Adra2b Mus musculus P30545
Y2H
9235896
种属内
EIF2B1 Q14232 ATF5 Homo sapiens Q9Y2D1
Y2H Prey Pooling
32296183
种属内
EIF2B1 Q14232 ATF5 Homo sapiens Q9Y2D1
Validated Y2H
32296183
种属内
EIF2B1 Q14232 ATF5 Homo sapiens Q9Y2D1
Y2H Array
32296183
种属内
EIF2B1 Q14232 NTAQ1 Homo sapiens Q96HA8
Validated Y2H
32296183
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
Leukoencephalopathy With Vanishing White Matter

Cree Leukoencephalopathy

Vanishing White Matter Disease

Ovarioleukodystrophy

Vanishing White Matter Leukodystrophy

Childhood Ataxia With Central Nervous System Hypomyelinization

Cach

Cach Syndrome

Myelinosis Centralis Diffusa

VWM

Cle

Childhood Ataxia With Central Nervous System Hypomyelination

Childhood Ataxia With Diffuse Central Nervous System Hypomyelination

Cach/Vwm

Cach/Vwm Syndrome

Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter

Cree Leukoencehalopathy

Late Infantile Cach Syndrome

Juvenile Or Adult Cach Syndrome

Congenital Or Early Infantile Cach Syndrome

Leukodystrophy With Vanishing White Matter

Childhood Ataxia With Central Nervous System Hypomyelination / Vanishing White Matter

Cach/Vwm

Leukoencephalopathy With Vanishing White Matter

Leukodystrophy

Leukodystrophies

Megalencephalic Leukoencephalopathy With Subcortical Cysts 1

Van Der Knaap Disease

Leukoencephalopathy With Swelling And Cysts

MLC1

Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts

Lvm

Vl

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 1

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 1

Megalencephalic Leukoencephalopathy With Subcortical Cysts

Type 1 Diabetes Mellitus 22

Diabetes Mellitus, Insulin-Dependent, 22

IDDM22

T1D22

Insulin-Dependent Diabetes Mellitus 22

Diabetes Mellitus, Insulin-Dependent, Type 22

Combined Saposin Deficiency

Encephalopathy Due To Prosaposin Deficiency

Combined Sap Deficiency

PSAPD

Prosaposin Deficiency

Combined Prosaposin Deficiency

CSAPD

Saposin Deficiency, Combined

Spastic Ataxia 4
Leukodystrophy, Hypomyelinating, 12

Hypomyelinating Leukodystrophy 12

HLD12

Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy

Vps11-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy

Hemangioma Of Intra-Abdominal Structure

Hemangioma Of Intra-Abdominal Structures

Hemangioma, Intra-Abdominal

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

Leukodystrophy, Hypomyelinating, 6

Habc

Hypomyelinating Leukodystrophy 6

HLD6

H-Abc

Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum

Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum

Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum

HLD

Leukodystrophy, Hypomyelinating, Type 6

Megalencephalic Leukoencephalopathy With Subcortical Cysts

Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts

Mlc

Van Der Knaap Disease

Lvm

Leukoencephalopathy With Swelling And Cysts

Megalencephaly-Cystic Leukodystrophy

Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome

Infantile Leukoencephalopathy And Megalencephaly

Leukoencephalopathy With Swelling And A Discrepantly Mild Course

Vacuolating Leukoencephalopathy

Megalencephalic Leukodystrophy

Megalencephaly-Cystic Leukodystrophy Syndrome

Van Der Knaap Syndrome

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease

Pcwh Syndrome

PCWH

Neurologic Waardenburg-Shah Syndrome

Waardenburg-Shah Syndrome, Neurologic Variant

Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome

Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease

Ws4 Plus

Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease

Waardenburg-Shah Syndrome Neurologic Variant

Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating

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
Felis catus EIF2B1 VGNC VGNC:61773
Rattus norvegicus EIF2B1 RGD RGD:620819
Macaca mulatta EIF2B1 VGNC VGNC:72182
Bos taurus EIF2B1 VGNC VGNC:28384
Canis familiaris EIF2B1 VGNC VGNC:40260
Mus musculus EIF2B1 MGD MGI:2384802