GUF1 GTP binding elongation factor GUF1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GUF1provided by HGNC
Official Full Name: GTP binding elongation factor GUF1provided by HGNC
Primary source: HGNC:HGNC:25799
See related: Ensembl:ENSG00000151806 MIM:617064; AllianceGenome:HGNC:25799
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EF4; EF-4; DEE40; EIEE40
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]
Expression: Ubiquitous expression in brain (RPKM 5.7), testis (RPKM 4.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p12

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (44678420..44700928)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (44645331..44667849)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (44680437..44702945)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Homozygous variant in the GUF1 gene identified in the three siblings with West syndrome.
Title: West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1.
The structure provides insights into the tRNA-remodeling function of EF-4 on the ribosome and suggests that the displacement of the CCA-end of the A-site tRNA away from the peptidyl transferase center (PTC) is functionally significant.
Title: Elongation factor 4 remodels the A-site tRNA on the ribosome.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy, 40 MedGen: C4310737 OMIM: 617065 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IEA Inferred from Electronic Annotation more info
enables mitochondrial ribosome binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in positive regulation of translation	IBA Inferred from Biological aspect of Ancestor more info
involved_in translation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: translation factor GUF1, mitochondrial

Names: GTP-binding protein GUF1 homolog; GTPase of unknown function 1; GUF1 homolog, GTPase; elongation factor 4 homolog; ribosomal back-translocase

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_051569.1 RefSeqGene

Range

5026..27534

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001345867.2 → NP_001332796.1 translation factor GUF1, mitochondrial isoform 2

Status: REVIEWED

Source sequence(s)

AC096586

Conserved Domains (1) summary

cl27769
Location:1 → 341

GTP_EFTU; Elongation factor Tu GTP binding domain
NM_001345868.2 → NP_001332797.1 translation factor GUF1, mitochondrial isoform 3

Status: REVIEWED

Source sequence(s)

AC096586

Conserved Domains (6) summary

cd01890
Location:69 → 246

LepA; LepA also known as Elongation Factor 4 (EF4)

PRK05433
Location:64 → 625

PRK05433; GTP-binding protein LepA; Provisional

cd03709
Location:471 → 550

lepA_C; lepA_C: This family represents the C-terminal region of LepA, a GTP-binding protein localized in the cytoplasmic membrane. LepA is ubiquitous in Bacteria and Eukaryota (e.g. Saccharomyces cerevisiae GUF1p), but is missing from Archaea. LepA exhibits ...

pfam06421
Location:572 → 624

LepA_C; GTP-binding protein LepA C-terminus

cd03699
Location:254 → 339

EF4_II; Domain II of Elongation Factor 4 (EF4)

cd16260
Location:355 → 430

EF4_III; Domain III of Elongation Factor 4 (EF4)
NM_001345869.2 → NP_001332798.1 translation factor GUF1, mitochondrial isoform 2

Status: REVIEWED

Source sequence(s)

AC096586

Conserved Domains (1) summary

cl27769
Location:1 → 341

GTP_EFTU; Elongation factor Tu GTP binding domain
NM_021927.3 → NP_068746.2 translation factor GUF1, mitochondrial isoform 1

See identical proteins and their annotated locations for NP_068746.2

Status: REVIEWED

Source sequence(s)

AC096586, AK025248, BC036768, DA997676

Consensus CDS

CCDS3468.1

UniProtKB/Swiss-Prot

Q5XKM8, Q8N442, Q9H710, Q9H8U4

Related

ENSP00000281543.5, ENST00000281543.6

Conserved Domains (6) summary

cd01890
Location:69 → 246

LepA; LepA also known as Elongation Factor 4 (EF4)

PRK05433
Location:64 → 665

PRK05433; GTP-binding protein LepA; Provisional

cd03709
Location:471 → 550

lepA_C; lepA_C: This family represents the C-terminal region of LepA, a GTP-binding protein localized in the cytoplasmic membrane. LepA is ubiquitous in Bacteria and Eukaryota (e.g. Saccharomyces cerevisiae GUF1p), but is missing from Archaea. LepA exhibits ...

pfam06421
Location:558 → 664

LepA_C; GTP-binding protein LepA C-terminus

cd03699
Location:254 → 339

EF4_II; Domain II of Elongation Factor 4 (EF4)

cd16260
Location:355 → 430

EF4_III; Domain III of Elongation Factor 4 (EF4)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

44678420..44700928

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024454178.2 → XP_024309946.1 translation factor GUF1, mitochondrial isoform X1

Conserved Domains (1) summary

PRK05433
Location:14 → 615

PRK05433; GTP-binding protein LepA; Provisional
XM_047416063.1 → XP_047272019.1 translation factor GUF1, mitochondrial isoform X2
XM_047416065.1 → XP_047272021.1 translation factor GUF1, mitochondrial isoform X4

Related

ENST00000506793.5
XM_047416064.1 → XP_047272020.1 translation factor GUF1, mitochondrial isoform X3
XM_047416066.1 → XP_047272022.1 translation factor GUF1, mitochondrial isoform X5

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

44645331..44667849

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054350695.1 → XP_054206670.1 translation factor GUF1, mitochondrial isoform X1
XM_054350696.1 → XP_054206671.1 translation factor GUF1, mitochondrial isoform X2
XM_054350698.1 → XP_054206673.1 translation factor GUF1, mitochondrial isoform X4
XM_054350697.1 → XP_054206672.1 translation factor GUF1, mitochondrial isoform X3