2. Gene
  3. GUF1 - GTP binding elongation factor GUF1 Gene

GUF1 - GTP binding elongation factor GUF1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：GTP 结合延伸因子 GUF1

种属: Homo sapiens

同用名: EF4; EF-4; DEE40; EIEE40

基因 ID: 60558 | 基因类型: protein coding

关于 GUF1

Cytogenetic location: 4p12 Genomic coordinates (GRCh38): 4:44,678,420-44,700,928 (from NCBI)

This gene has 4 transcripts (splice variants), 202 orthologues, 18 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 5.7), testis (RPKM 4.4) and 25 other tissues.

功能概要

该基因编码一种 GTP 酶，可在线粒体蛋白质合成过程中触发延长核糖体的反向易位。该蛋白质包含一个高度保守的 C 末端结构域，在其他促进 tRNA 结合的 GTP 酶中没有发现。编码的蛋白质被认为可以防止氨基酸在压力大、次优条件下的错误掺入。该基因中的一个等位基因变异与早期婴儿癫痫性脑病有关 - 40。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 9 月]

This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in Other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of Amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

GUF1 基因产物(4)

mRNA Protein Name
NM_001345867.2 NP_001332796.1 translation factor GUF1, mitochondrial isoform 2
NM_001345868.2 NP_001332797.1 translation factor GUF1, mitochondrial isoform 3
NM_001345869.2 NP_001332798.1 translation factor GUF1, mitochondrial isoform 2
NM_021927.3 NP_068746.2 translation factor GUF1, mitochondrial isoform 1

GUF1 蛋白结构

GTP_EFTU

GTP_EFTU: Elongation factor Tu GTP binding domain (66 - 244)

GTP_EFTU_D2

GTP_EFTU_D2: Elongation factor Tu domain 2 (268 - 338)

EFG_C

EFG_C: Elongation factor G C-terminus (469 - 556)

LepA_C

LepA_C: GTP-binding protein LepA C-terminus (558 - 664)

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

translation factor GUF1, mitochondrial

GTP-binding protein GUF1 homolog

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 40

DEE40

Epileptic Encephalopathy, Early Infantile, 40

Eiee40

Developmental And Epileptic Encephalopathy, 40

Early Infantile Epileptic Encephalopathy 40
West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic
Myopathy With Extrapyramidal Signs

Proximal Myopathy With Extrapyramidal Signs

MPXPS

Myopathy, With Extrapyramidal Signs
Cone-Rod Dystrophy 3

CORD3

Dystrophy, Cone Rod, Type 3
Usher Syndrome, Type Ij

Usher Syndrome Type 1j

USH1J

Usher Syndrome Type Ij

Usher Syndrome 1j

Usher'S Syndrome Type 1j
Cone-Rod Dystrophy 6

CORD6

Retinal Cone Dystrophy 2

Rcd2

Dystrophy, Cone-Rod, Type 6

Retinitis Pigmentosa 6

Progressive Cone Degeneration

Cone Dystrophy
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile
Epilepsy, Idiopathic Generalized 14

EIG14

Epilepsy, Idiopathic Generalized, Susceptibility To, 14

Idiopathic Generalized Epilepsy 14

{Epilepsy, Idiopathic Generalized, Susceptibility To, 14}
Pasteurellosis

Pasteurella Infection

Pasteurella Infections

Pasteurella Infectious Disease

Shipping Fever

Transport Fever
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
Cone Dystrophy

Retinal Cone Dystrophy

Dystrophy, Cone

Cone Dystrophy 3
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05923 GUF1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS22195 Guf1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS28717 Guf1 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus GUF1 MGD MGI:2140726
Rattus norvegicus GUF1 RGD RGD:1310774
Macaca mulatta GUF1 VGNC VGNC:73233
Felis catus GUF1 VGNC VGNC:62740
Canis familiaris GUF1 VGNC VGNC:49821
Bos taurus GUF1 VGNC VGNC:29724
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