GUF1 - GTP binding elongation factor GUF1 Gene

Homo sapiens

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

Gene ID: 60558 | Gene type: protein coding

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_D2

EFG_C

LepA_C

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05923	GUF1 Human Pre-designed siRNA Set A		/	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