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GUF1 GUF1 homolog, GTPase [ Homo sapiens (human) ]

Gene ID: 60558, updated on 3-Nov-2019

Summary

Official Symbol
GUF1provided by HGNC
Official Full Name
GUF1 homolog, GTPaseprovided by HGNC
Primary source
HGNC:HGNC:25799
See related
Ensembl:ENSG00000151806 MIM:617064
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; 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

Genomic context

See GUF1 in Genome Data Viewer
Location:
4p12
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (44678395..44700928)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (44680433..44702944)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene potassium channel tetramerization domain containing 8 Neighboring gene uncharacterized LOC107986275 Neighboring gene Yip1 domain family member 7 Neighboring gene uncharacterized LOC105374439 Neighboring gene glucosamine-6-phosphate deaminase 2 Neighboring gene uncharacterized LOC112268465

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ13220

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IEA
Inferred from Electronic Annotation
more info
 
ribosome binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
positive regulation of translation IEA
Inferred from Electronic Annotation
more info
 
translation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
translation factor GUF1, mitochondrial
Names
GTP-binding protein GUF1 homolog
GTPase of unknown function 1
elongation factor 4 homolog
ribosomal back-translocase

NCBI Reference Sequences (RefSeq)

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

  1. NG_051569.1 RefSeqGene

    Range
    5026..27534
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AC096586
    Conserved Domains (1) summary
    cl27769
    Location:1341
    GTP_EFTU; Elongation factor Tu GTP binding domain
  2. NM_001345868.1NP_001332797.1  translation factor GUF1, mitochondrial isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC096586
    Conserved Domains (6) summary
    cd01890
    Location:69246
    LepA; LepA also known as Elongation Factor 4 (EF4)
    PRK05433
    Location:64625
    PRK05433; GTP-binding protein LepA; Provisional
    cd03709
    Location:471550
    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:572624
    LepA_C; GTP-binding protein LepA C-terminus
    cd03699
    Location:254339
    EF4_II; Domain II of Elongation Factor 4 (EF4)
    cd16260
    Location:355430
    EF4_III; Domain III of Elongation Factor 4 (EF4)
  3. NM_001345869.1NP_001332798.1  translation factor GUF1, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC096586
    Conserved Domains (1) summary
    cl27769
    Location:1341
    GTP_EFTU; Elongation factor Tu GTP binding domain
  4. NM_021927.3NP_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
    Q8N442
    UniProtKB/TrEMBL
    A0A024R9T3
    Related
    ENSP00000281543.5, ENST00000281543.6
    Conserved Domains (6) summary
    cd01890
    Location:69246
    LepA; LepA also known as Elongation Factor 4 (EF4)
    PRK05433
    Location:64665
    PRK05433; GTP-binding protein LepA; Provisional
    cd03709
    Location:471550
    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:558664
    LepA_C; GTP-binding protein LepA C-terminus
    cd03699
    Location:254339
    EF4_II; Domain II of Elongation Factor 4 (EF4)
    cd16260
    Location:355430
    EF4_III; Domain III of Elongation Factor 4 (EF4)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    44678395..44700928
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    PRK05433
    Location:14615
    PRK05433; GTP-binding protein LepA; Provisional
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