1. Gene
  2. EIF2AK1 - eukaryotic translation initiation factor 2 alpha kinase 1 Gene

EIF2AK1 - eukaryotic translation initiation factor 2 alpha kinase 1 Gene

中文名称:真核翻译起始因子 2 α 激酶 1

种属: Homo sapiens

同用名: HCR; HRI; hHRI; LEMSPAD

基因 ID: 27102 | 基因类型: protein coding

关于 EIF2AK1

Cytogenetic location: 7p22.1 Genomic coordinates (GRCh38): 7:6,022,247-6,059,175 (from NCBI)

This gene has 10 transcripts (splice variants), 209 orthologues, 8 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 37.9), placenta (RPKM 32.2) and 25 other tissues.

功能概要

由该基因编码的蛋白质在翻译起始水平起作用,以下调应激反应中的蛋白质合成。编码的蛋白质是一种激酶,可以被血红素灭活。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2008 年 8 月]

The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

EIF2AK1 基因产物(2)

mRNA Protein Name
NM_001134335.2 NP_001127807.1 eukaryotic translation initiation factor 2-alpha kinase 1 isoform b
NM_014413.4 NP_055228.2 eukaryotic translation initiation factor 2-alpha kinase 1 isoform a

EIF2AK1 蛋白结构

Pkinase

Pkinase: Protein kinase domain (168 - 239)

Pkinase

Pkinase: Protein kinase domain (363 - 583)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 630 a.a.
蛋白主名 其他名称

eukaryotic translation initiation factor 2-alpha kinase 1

heme regulated initiation factor 2 alpha kinase

关联疾病

疾病名称 别名
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome

LEMSPAD

Lemspad Syndrome

Leukodystrophy, Hypomyelinating, 17

HLD17

Beta-Thalassemia

Beta Thalassemia

Cooley'S Anemia

Mediterranean Anemia

Beta Thalassemia Intermedia

Erythroblastic Anemia

Thalassemia, Hispanic Gamma-Delta-Beta

Thalassemia Major

Thalassemia Minor

Beta-Plus-Thalassemia

Thalassemia, Beta

Beta Thalassemia Major

Beta Thalassemia Minor

Thalassemias, Beta-

Microcytemia, Beta Type

Thalassemia, Beta Type

B-THAL

Mediterranean Anaemia

Beta Thalassaemia Syndrome

Mediterranean Disease

Beta Thalassaemia Disease

Dental Anomalies And Short Stature

Brachyolmia-Amelogenesis Imperfecta Syndrome

Platyspondyly With Amelogenesis Imperfecta

DASS

Verloes Bourguignon Syndrome

Verloes-Bourguignon Syndrome

Vbs

Sthag6

Tooth Agenesis, Selective, 6

Tooth Agenesis, Selective, 6, Formerly

Sthag6, Formerly

Selective Tooth Agenesis 5

Amelogenesis Imperfecta And Platyspondyly

Skeletal Dysplasia With Amelogenesis Imperfecta And Platyspondyly

Platyspondyly-Amelogenesis Imperfecta Syndrome

Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus

Wolcott-Rallison Syndrome

Med-Iddm Syndrome

Iddm-Med Syndrome

Wolcott Rallison Syndrome

WRS

Epiphyseal Dysplasia Multiple With Early-Onset Diabetes Mellitus

Early-Onset Diabetes Mellitus With Multiple Epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

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

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
Bos taurus EIF2AK1 VGNC VGNC:28380
Rattus norvegicus EIF2AK1 RGD RGD:70883
Canis familiaris EIF2AK1 VGNC VGNC:40256
Felis catus EIF2AK1 VGNC VGNC:61770
Macaca mulatta EIF2AK1 VGNC VGNC:72105
Mus musculus EIF2AK1 MGD MGI:1353448
Others EIF2AK1 NCBI