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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. 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.

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

Regulatory Elements for GUF1 Gene

Enhancers for GUF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G044725 1.3 FANTOM5 ENCODE 28.8 +47.8 47754 2.2 ATF1 CREB3L1 ZFP64 WRNIP1 SIN3A ARID4B DMAP1 ZNF48 YY1 GLIS2 GUF1 KCTD8 GNPDA2 LOC105374439 ENSG00000272936
GH04G044677 1.1 ENCODE 21.9 +0.6 634 3.0 PKNOX1 FOXA2 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF207 ZHX2 GUF1 GNPDA2 YIPF7 GC04M044690
GH04G044863 0.6 ENCODE 9.5 +185.5 185545 1.6 JUND BCL11A TEAD4 POU5F1 KDM1A REST CHD7 GUF1 GNPDA2 LOC100419045 LOC105374441
GH04G044764 0.4 ENCODE 12 +87.0 87017 1.2 EP300 GNPDA2 GUF1 KCTD8 LOC105374440
GH04G044916 0.4 Ensembl 5.6 +238.3 238306 0.6 SMARCA4 GUF1 LOC105374441 LOC100419045
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GUF1 on UCSC Golden Path with GeneCards custom track

Promoters for GUF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000167981 505 2601 PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF207 ZHX2 MXD4

Genomic Location for GUF1 Gene

Chromosome:
4
Start:
44,678,395 bp from pter
End:
44,700,928 bp from pter
Size:
22,534 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 posLast=102102
  • 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

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

No data available for Gene Families for GUF1 Gene

Function for GUF1 Gene

Molecular function for GUF1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
GTP + H(2)O = GDP + phosphate.
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.

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , 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

Gene Ontology (GO) - Cellular Components for GUF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion 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

Interacting Proteins for GUF1 Gene

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

Clone Products

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, PaxDb, 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

Primer Products

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 35
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia GUF1 34 35
  • 90.99 (n)
cow
(Bos Taurus)
Mammalia GUF1 34 35
  • 90.93 (n)
mouse
(Mus musculus)
Mammalia Guf1 34 16 35
  • 86.53 (n)
rat
(Rattus norvegicus)
Mammalia Guf1 34
  • 86.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 85 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia GUF1 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves GUF1 35 34
  • 77.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GUF1 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia guf1 34
  • 73.3 (n)
Str.7152 34
zebrafish
(Danio rerio)
Actinopterygii guf1 34 35
  • 70.39 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009971 34
  • 56.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta waw 34 35
  • 54.07 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_ZK1236.1 34
  • 53.72 (n)
ZK1236.1 35
  • 48 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUF1 34 35 37
  • 55.7 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04862g 34
  • 55.63 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR290W 34
  • 53.59 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G39900 34
  • 60.51 (n)
rice
(Oryza sativa)
Liliopsida Os06g0144800 34
  • 59.68 (n)
Os.10307 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1B3.04c 34
  • 53.71 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05927 34
  • 49.08 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.32 34
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)

Paralogs for GUF1 Gene

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

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 Sequence Context AA Info Type
VAR_077804 Epileptic encephalopathy, early infantile, 40 (EIEE40) [MIM:617065]
rs879255631 Pathogenic 44,695,724(+) TCATT(G/T)CAAGA intron-variant, reference, missense
rs796052183 Likely benign 44,683,304(+) CAAGT(G/T)ATGAA reference, missense, utr-variant-5-prime
rs1000008740 -- 44,676,512(+) AGATT(C/G)TTGAC upstream-variant-2KB
rs1000305928 -- 44,689,505(+) AATAT(A/C)TTTAT 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)

Relevant External Links for GUF1 Gene

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

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: ClinVar, 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.

Relevant External Links for GUF1

Genetic Association Database (GAD)
GUF1
Human Genome Epidemiology (HuGE) Navigator
GUF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GUF1
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 A.A. … Reymond A. (Eur. J. Hum. Genet. 2015) 3 4 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. GUF1, a gene encoding a novel evolutionarily conserved GTPase in budding yeast. (PMID: 8553703) Kiser G.L. … Weinert T.A. (Yeast 1995) 2 3 64

Products for GUF1 Gene

Sources for GUF1 Gene

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