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Aliases for GUF1 Gene

Aliases for GUF1 Gene

  • GUF1 Homolog, GTPase 2 3 5
  • Elongation Factor 4 Homolog 3 4
  • Ribosomal Back-Translocase 3 4
  • EF-4 3 4
  • Translation Factor GUF1, Mitochondrial 3
  • GUF1 GTPase Homolog (S. Cerevisiae) 2
  • GTP-Binding Protein GUF1 Homolog 3
  • GTPase Of Unknown Function 1 3
  • GTPase GUF1 4
  • EC 3.6.5.- 4
  • EIEE40 3
  • EF4 3

External Ids for GUF1 Gene

Previous GeneCards Identifiers for GUF1 Gene

  • GC04P044375
  • GC04P044002

Summaries for GUF1 Gene

Entrez Gene Summary for GUF1 Gene

  • 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]

GeneCards Summary for GUF1 Gene

GUF1 (GUF1 Homolog, GTPase) is a Protein Coding gene. Diseases associated with GUF1 include Epileptic Encephalopathy, Early Infantile, 40 and West Syndrome. Gene Ontology (GO) annotations related to this gene include GTP binding and ribosome binding.

UniProtKB/Swiss-Prot for GUF1 Gene

  • Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one-codon backward translocation of tRNAs on improperly translocated ribosomes. Binds to mitochondrial ribosomes in a GTP-dependent manner.

Additional gene information for GUF1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GUF1 Gene

Genomics for GUF1 Gene

GeneHancer (GH) Regulatory Elements for GUF1 Gene

Promoters and enhancers for GUF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J044677 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 671.9 +0.6 634 3 PKNOX1 ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF207 JUNB ZHX2 GUF1 YIPF7 ENSG00000273369 GNPDA2 GC04M044690
GH04J044725 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 28.8 +47.8 47754 2.2 ZFP64 ARID4B DMAP1 YY1 POLR2B ZNF143 NFYC REST KAT8 SMARCA4 GNPDA2 LOC105374439 YIPF7 GUF1 KCTD8 ENSG00000272936
GH04J044651 Promoter 0.5 EPDnew 11.8 -26.8 -26750 0.1 YIPF7 GUF1 GC04M044655 ENSG00000251159
GH04J044863 Enhancer 0.5 ENCODE 9.6 +185.5 185544 1.6 SP1 NANOG POU5F1 REST GUF1 GNPDA2 LOC100419045 LOC105374441
GH04J044764 Enhancer 0.2 ENCODE 12.1 +87.0 87017 1.2 GNPDA2 GUF1 KCTD8 LOC105374439 LOC105374440
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GUF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GUF1 gene promoter:
  • POU3F2 (N-Oct-5b)
  • POU3F2 (N-Oct-5a)
  • POU3F2
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • LCR-F1
  • AP-1
  • E47

Genomic Locations for GUF1 Gene

Genomic Locations for GUF1 Gene
chr4:44,678,395-44,700,928
(GRCh38/hg38)
Size:
22,534 bases
Orientation:
Plus strand
chr4:44,680,433-44,702,943
(GRCh37/hg19)
Size:
22,511 bases
Orientation:
Plus strand

Genomic View for GUF1 Gene

Genes around GUF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GUF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GUF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GUF1 Gene

Proteins for GUF1 Gene

  • Protein details for GUF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N442-GUF1_HUMAN
    Recommended name:
    Translation factor GUF1, mitochondrial
    Protein Accession:
    Q8N442
    Secondary Accessions:
    • Q5XKM8
    • Q9H710
    • Q9H8U4

    Protein attributes for GUF1 Gene

    Size:
    669 amino acids
    Molecular mass:
    74328 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15090.1; Type=Frameshift; Positions=646; Evidence={ECO:0000305};

neXtProt entry for GUF1 Gene

Post-translational modifications for GUF1 Gene

  • Ubiquitination at Lys102
  • Modification sites at PhosphoSitePlus

Other Protein References for GUF1 Gene

No data available for DME Specific Peptides for GUF1 Gene

Domains & Families for GUF1 Gene

Gene Families for GUF1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GUF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N442

UniProtKB/Swiss-Prot:

GUF1_HUMAN :
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. LepA subfamily.
Family:
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. LepA subfamily.
genes like me logo Genes that share domains with GUF1: view

Function for GUF1 Gene

Molecular function for GUF1 Gene

UniProtKB/Swiss-Prot Function:
Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one-codon backward translocation of tRNAs on improperly translocated ribosomes. Binds to mitochondrial ribosomes in a GTP-dependent manner.
UniProtKB/Swiss-Prot CatalyticActivity:
GTP + H(2)O = GDP + phosphate.

Enzyme Numbers (IUBMB) for GUF1 Gene

Gene Ontology (GO) - Molecular Function for GUF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005525 GTP binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0043022 ribosome binding IEA --
genes like me logo Genes that share ontologies with GUF1: view
genes like me logo Genes that share phenotypes with GUF1: view

Human Phenotype Ontology for GUF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for GUF1 Gene

miRTarBase miRNAs that target GUF1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GUF1

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for GUF1 Gene

Localization for GUF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GUF1 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GUF1 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GUF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GUF1: view

Pathways & Interactions for GUF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GUF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0045727 positive regulation of translation IEA --
genes like me logo Genes that share ontologies with GUF1: view

No data available for Pathways by source and SIGNOR curated interactions for GUF1 Gene

Drugs & Compounds for GUF1 Gene

(4) Drugs for GUF1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with GUF1: view

Transcripts for GUF1 Gene

Unigene Clusters for GUF1 Gene

GUF1 GTPase homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GUF1

Alternative Splicing Database (ASD) splice patterns (SP) for GUF1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^
SP1: -
SP2: - - -
SP3: -
SP4: - -
SP5: - -
SP6:
SP7: - -
SP8: - -
SP9: -
SP10:
SP11:

ExUns: 15a · 15b ^ 16a · 16b ^ 17
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for GUF1 Gene

GeneLoc Exon Structure for
GUF1
ECgene alternative splicing isoforms for
GUF1

Expression for GUF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GUF1 Gene

Protein differential expression in normal tissues from HIPED for GUF1 Gene

This gene is overexpressed in Pancreatic juice (13.2), Testis (12.5), Breast (9.7), and Ovary (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GUF1 Gene



NURSA nuclear receptor signaling pathways regulating expression of GUF1 Gene:

GUF1

SOURCE GeneReport for Unigene cluster for GUF1 Gene:

Hs.546419

Evidence on tissue expression from TISSUES for GUF1 Gene

  • Nervous system(4.7)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with GUF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GUF1 Gene

Orthologs for GUF1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GUF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GUF1 34 33
  • 99.65 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GUF1 34 33
  • 90.99 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GUF1 34 33
  • 90.93 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Guf1 16 34 33
  • 86.53 (n)
rat
(Rattus norvegicus)
Mammalia Guf1 33
  • 86.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 85 (a)
OneToMany
-- 34
  • 77 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia GUF1 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves GUF1 34 33
  • 77.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GUF1 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia guf1 33
  • 73.3 (n)
Str.7152 33
zebrafish
(Danio rerio)
Actinopterygii guf1 34 33
  • 70.39 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009971 33
  • 56.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta waw 34 33
  • 54.07 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_ZK1236.1 33
  • 53.72 (n)
ZK1236.1 34
  • 48 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUF1 36 34 33
  • 55.7 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04862g 33
  • 55.63 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR290W 33
  • 53.59 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G39900 33
  • 60.51 (n)
rice
(Oryza sativa)
Liliopsida Os06g0144800 33
  • 59.68 (n)
Os.10307 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 54 (a)
OneToOne
Cin.32 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1B3.04c 33
  • 53.71 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05927 33
  • 49.08 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.32 33
Species where no ortholog for GUF1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GUF1 Gene

ENSEMBL:
Gene Tree for GUF1 (if available)
TreeFam:
Gene Tree for GUF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GUF1: view image

Paralogs for GUF1 Gene

(1) SIMAP similar genes for GUF1 Gene using alignment to 2 proteins:

  • GUF1_HUMAN
  • D6RBJ0_HUMAN
genes like me logo Genes that share paralogs with GUF1: view

No data available for Paralogs for GUF1 Gene

Variants for GUF1 Gene

Sequence variations from dbSNP and Humsavar for GUF1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs796052183 likely-benign, Long QT syndrome 44,683,304(+) G/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs879255631 pathogenic, Epileptic encephalopathy, early infantile, 40, Epileptic encephalopathy, early infantile, 40 (EIEE40) [MIM:617065] 44,695,724(+) G/T coding_sequence_variant, intron_variant, missense_variant
rs116062572 uncertain-significance, not provided 44,686,523(+) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1000008740 -- 44,676,512(+) C/G upstream_transcript_variant
rs1000305928 -- 44,689,505(+) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GUF1 Gene

Variant ID Type Subtype PubMed ID
nsv1013488 CNV loss 25217958
nsv4319 CNV deletion 18451855

Variation tolerance for GUF1 Gene

Residual Variation Intolerance Score: 96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.63; 91.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GUF1 Gene

Human Gene Mutation Database (HGMD)
GUF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GUF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GUF1 Gene

Disorders for GUF1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GUF1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 40
  • eiee40
west syndrome
  • epileptic encephalopathy, early infantile, 1
pasteurellosis
  • pasteurella infection
atrophic rhinitis
  • dry rhinitis
- elite association - COSMIC cancer census association via MalaCards
Search GUF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GUF1_HUMAN
  • Epileptic encephalopathy, early infantile, 40 (EIEE40) [MIM:617065]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE40 inheritance is autosomal recessive. {ECO:0000269 PubMed:26486472}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GUF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GUF1: view

No data available for Genatlas for GUF1 Gene

Publications for GUF1 Gene

  1. West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. (PMID: 26486472) Alfaiz AA … Reymond A (European journal of human genetics : EJHG 2016) 3 4 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. GUF1, a gene encoding a novel evolutionarily conserved GTPase in budding yeast. (PMID: 8553703) Kiser GL … Weinert TA (Yeast (Chichester, England) 1995) 2 3 58

Products for GUF1 Gene

Sources for GUF1 Gene

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