GUF1

Protein identityUniProt · HPA

UniProt accession

Q8N442

Gene

GUF1

Ensembl

ENSG00000151806

Chromosome

4

Canonical length

669 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Mitochondria

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

669 residues, UniProt reviewed canonical sequence.

>Q8N442|GUF1
     1  MWTLVGRGWG CARALAPRAT GAALLVAPGP RSAPTLGAAP ESWATDRLYS SAEFKEKLDM
    61  SRFPVENIRN FSIVAHVDHG KSTLADRLLE LTGTIDKTKN NKQVLDKLQV ERERGITVKA
   121  QTASLFYNCE GKQYLLNLID TPGHVDFSYE VSRSLSACQG VLLVVDANEG IQAQTVANFF
   181  LAFEAQLSVI PVINKIDLKN ADPERVENQI EKVFDIPSDE CIKISAKLGT NVESVLQAII
   241  ERIPPPKVHR KNPLRALVFD STFDQYRGVI ANVALFDGVV SKGDKIVSAH TQKTYEVNEV
   301  GVLNPNEQPT HKLYAGQVGY LIAGMKDVTE AQIGDTLCLH KQPVEPLPGF KSAKPMVFAG
   361  MYPLDQSEYN NLKSAIEKLT LNDSSVTVHR DSSLALGAGW RLGFLGLLHM EVFNQRLEQE
   421  YNASVILTTP TVPYKAVLSS SKLIKEHREK EITIINPAQF PDKSKVTEYL EPVVLGTIIT
   481  PDEYTGKIMM LCEARRAVQK NMIFIDQNRV MLKYLFPLNE IVVDFYDSLK SLSSGYASFD
   541  YEDAGYQTAE LVKMDILLNG NTVEELVTVV HKDKAHSIGK AICERLKDSL PRQLFEIAIQ
   601  AAIGSKIIAR ETVKAYRKNV LAKCYGGDIT RKMKLLKRQA EGKKKLRKIG NVEVPKDAFI
   661  KVLKTQSSK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GUF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

16 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GUF1.

Disease | AllUniProt

Conditions GUF1 is implicated in, by any mechanism.

• Developmental and epileptic encephalopathy 40 (DEE40) MIM:617065

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 507 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Developmental and epileptic encephalopathy, 40

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.14

gnomAD pLI

0

gnomAD missense Z

0.15

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• positive regulation of translation
• translation

Molecular functions

• GTP binding
• GTPase activity
• mitochondrial ribosome binding

Cellular components

• mitochondrial inner membrane
• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Elongation factor EFG, domain V-like
• Translational (tr)-type GTP-binding domain
• Translation elongation factor EFTu-like, domain 2
• Small GTP-binding domain
• Translation protein, beta-barrel domain superfamily
• P-loop containing nucleoside triphosphate hydrolase
• Tr-type G domain, conserved site
• EF-G domain III/V-like
• Elongation factor Tu GTP binding domain
• Elongation factor G C-terminus
• Elongation factor Tu domain 2
• Elongation factor 4
• GTP-binding protein LepA, C-terminal
• Elongation factor 4, domain IV
• LepA, C-terminal domain superfamily
• GTP-binding protein LepA C-terminus

KeywordsUniProt

• Epilepsy
• GTP-binding
• Hydrolase
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Nucleotide-binding
• Protein biosynthesis
• Transit peptide