GUF1 - GTP binding elongation factor GUF1 Gene

Also Known as EF4; EF-4; DEE40; EIEE40

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 60558

About 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.

Summary

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 Products (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 Protein Structure

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.
Protein Preferred Names Protein Names

translation factor GUF1, mitochondrial

  • GTP-binding protein GUF1 homolog

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS05923 GUF1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22195 Guf1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28717 Guf1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others GUF1 NCBI