Q8N442 · GUF1_HUMAN
- ProteinTranslation factor GUF1, mitochondrial
- GeneGUF1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids669 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score4/5
Function
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.
Catalytic activity
- GTP + H2O = GDP + H+ + phosphate
Features
Showing features for binding site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | mitochondrial inner membrane | |
Cellular Component | mitochondrial matrix | |
Cellular Component | mitochondrion | |
Molecular Function | GTP binding | |
Molecular Function | GTPase activity | |
Molecular Function | mitochondrial ribosome binding | |
Biological Process | positive regulation of translation | |
Biological Process | translation |
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameTranslation factor GUF1, mitochondrial
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ8N442
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Mitochondrion inner membrane ; Peripheral membrane protein
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Developmental and epileptic encephalopathy 40 (DEE40)
- Note
- DescriptionA form of epileptic encephalopathy, a heterogeneous group of severe early-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. DEE40 inheritance is autosomal recessive.
- See alsoMIM:617065
Natural variants in DEE40
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_077804 | 609 | A>S | in DEE40; dbSNP:rs879255631 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_028895 | 58 | in dbSNP:rs6447368 | |||
Sequence: L → P | ||||||
Natural variant | VAR_028896 | 329 | in dbSNP:rs10470742 | |||
Sequence: T → I | ||||||
Natural variant | VAR_077804 | 609 | in DEE40; dbSNP:rs879255631 | |||
Sequence: A → S |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 777 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for transit peptide, chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transit peptide | 1-49 | Mitochondrion | ||||
Sequence: MWTLVGRGWGCARALAPRATGAALLVAPGPRSAPTLGAAPESWATDRLY | ||||||
Chain | PRO_0000256251 | 50-669 | Translation factor GUF1, mitochondrial | |||
Sequence: SSAEFKEKLDMSRFPVENIRNFSIVAHVDHGKSTLADRLLELTGTIDKTKNNKQVLDKLQVERERGITVKAQTASLFYNCEGKQYLLNLIDTPGHVDFSYEVSRSLSACQGVLLVVDANEGIQAQTVANFFLAFEAQLSVIPVINKIDLKNADPERVENQIEKVFDIPSDECIKISAKLGTNVESVLQAIIERIPPPKVHRKNPLRALVFDSTFDQYRGVIANVALFDGVVSKGDKIVSAHTQKTYEVNEVGVLNPNEQPTHKLYAGQVGYLIAGMKDVTEAQIGDTLCLHKQPVEPLPGFKSAKPMVFAGMYPLDQSEYNNLKSAIEKLTLNDSSVTVHRDSSLALGAGWRLGFLGLLHMEVFNQRLEQEYNASVILTTPTVPYKAVLSSSKLIKEHREKEITIINPAQFPDKSKVTEYLEPVVLGTIITPDEYTGKIMMLCEARRAVQKNMIFIDQNRVMLKYLFPLNEIVVDFYDSLKSLSSGYASFDYEDAGYQTAELVKMDILLNGNTVEELVTVVHKDKAHSIGKAICERLKDSLPRQLFEIAIQAAIGSKIIARETVKAYRKNVLAKCYGGDITRKMKLLKRQAEGKKKLRKIGNVEVPKDAFIKVLKTQSSK |
Proteomic databases
PTM databases
Expression
Structure
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 66-247 | tr-type G | ||||
Sequence: ENIRNFSIVAHVDHGKSTLADRLLELTGTIDKTKNNKQVLDKLQVERERGITVKAQTASLFYNCEGKQYLLNLIDTPGHVDFSYEVSRSLSACQGVLLVVDANEGIQAQTVANFFLAFEAQLSVIPVINKIDLKNADPERVENQIEKVFDIPSDECIKISAKLGTNVESVLQAIIERIPPPK |
Sequence similarities
Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. LepA subfamily.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length669
- Mass (Da)74,328
- Last updated2002-10-01 v1
- Checksum428892437C91ED36
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
D6RBJ0 | D6RBJ0_HUMAN | GUF1 | 98 |
Sequence caution
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 85 | in Ref. 1; BAB14507 | ||||
Sequence: A → T | ||||||
Sequence conflict | 417 | in Ref. 1; BAB14507 | ||||
Sequence: L → P | ||||||
Sequence conflict | 625 | in Ref. 1; BAB14507 | ||||
Sequence: Y → C |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK023282 EMBL· GenBank· DDBJ | BAB14507.1 EMBL· GenBank· DDBJ | mRNA | ||
AK025248 EMBL· GenBank· DDBJ | BAB15090.1 EMBL· GenBank· DDBJ | mRNA | Sequence problems. | |
BC036768 EMBL· GenBank· DDBJ | AAH36768.1 EMBL· GenBank· DDBJ | mRNA |