Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
60558
Gene name Gene Name - the full gene name approved by the HGNC.
GTP binding elongation factor GUF1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GUF1
Synonyms (NCBI Gene) Gene synonyms aliases
DEE40, EF-4, EF4, EIEE40
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DEE40
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p12
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs116062572 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant, 5 prime UTR variant
rs879255631 G>T Pathogenic Coding sequence variant, intron variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029058 hsa-miR-26b-5p Microarray 19088304
MIRT460390 hsa-miR-4695-5p HITS-CLIP 23706177
MIRT460389 hsa-miR-1910-3p HITS-CLIP 23706177
MIRT460388 hsa-miR-6511a-5p HITS-CLIP 23706177
MIRT460387 hsa-miR-3174 HITS-CLIP 23706177
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003924 Function GTPase activity IEA
GO:0005525 Function GTP binding IEA
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005743 Component Mitochondrial inner membrane IEA
GO:0005759 Component Mitochondrial matrix IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617064 25799 ENSG00000151806
Protein
UniProt ID Q8N442
Protein name Translation factor GUF1, mitochondrial (EC 3.6.5.-) (Elongation factor 4 homolog) (EF-4) (GTPase GUF1) (Ribosomal back-translocase)
Protein 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-depende
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00009 GTP_EFTU 66 245 Elongation factor Tu GTP binding domain Domain
PF03144 GTP_EFTU_D2 268 338 Elongation factor Tu domain 2 Domain
PF00679 EFG_C 468 557 Elongation factor G C-terminus Domain
PF06421 LepA_C 558 664 GTP-binding protein LepA C-terminus Family
Sequence
Sequence length 669
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental regression Developmental regression rs1224421127
Epileptic encephalopathy Epileptic encephalopathy, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40 rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
View all (860 more)
26486472
West syndrome West Syndrome rs267606715, rs267608421, rs727503974, rs786205598, rs794727152, rs796053134, rs796053162, rs1057517854, rs267608618, rs1555952078, rs1555954752, rs749975104 26486472
Unknown
Disease term Disease name Evidence References Source
Infantile Spasms infantile spasms GenCC
Developmental And Epileptic Encephalopathy developmental and epileptic encephalopathy, 40 GenCC
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Cone Rod Dystrophies Associate 15790869, 32650103
Hearing Loss Functional Associate 15790869
Neoplasm Metastasis Associate 34108011
Neoplasms Associate 34108011
Retinal Cone Dystrophy 1 Associate 15735604
Spasms Infantile Associate 26486472
Thyroid Neoplasms Associate 37355885