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Protein

Translation factor GUF1, mitochondrial

Gene

GUF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.UniRule annotation

Catalytic activityi

GTP + H2O = GDP + phosphate.UniRule annotation

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi75 – 82GTPUniRule annotation8
Nucleotide bindingi140 – 144GTPUniRule annotation5
Nucleotide bindingi194 – 197GTPUniRule annotation4

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase
Biological processProtein biosynthesis
LigandGTP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Translation factor GUF1, mitochondrialUniRule annotation (EC:3.6.5.-)
Alternative name(s):
Elongation factor 4 homologUniRule annotation
Short name:
EF-4UniRule annotation
GTPase GUF1UniRule annotation
Ribosomal back-translocaseUniRule annotation
Gene namesi
Name:GUF1UniRule annotation
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000151806.13
HGNCiHGNC:25799 GUF1
MIMi617064 gene
neXtProtiNX_Q8N442

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Epileptic encephalopathy, early infantile, 40 (EIEE40)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:617065
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077804609A → S in EIEE40. 1 PublicationCorresponds to variant dbSNP:rs879255631EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi60558
MalaCardsiGUF1
MIMi617065 phenotype
OpenTargetsiENSG00000151806
Orphaneti3451 West syndrome
PharmGKBiPA143485485

Polymorphism and mutation databases

BioMutaiGUF1
DMDMi74728811

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 49MitochondrionUniRule annotationAdd BLAST49
ChainiPRO_000025625150 – 669Translation factor GUF1, mitochondrialAdd BLAST620

Proteomic databases

EPDiQ8N442
MaxQBiQ8N442
PaxDbiQ8N442
PeptideAtlasiQ8N442
PRIDEiQ8N442
ProteomicsDBi71880

PTM databases

iPTMnetiQ8N442
PhosphoSitePlusiQ8N442

Expressioni

Gene expression databases

BgeeiENSG00000151806 Expressed in 210 organ(s), highest expression level in biceps brachii
CleanExiHS_GUF1
ExpressionAtlasiQ8N442 baseline and differential
GenevisibleiQ8N442 HS

Organism-specific databases

HPAiHPA003934
HPA024222

Interactioni

Protein-protein interaction databases

BioGridi121939, 11 interactors
IntActiQ8N442, 5 interactors
STRINGi9606.ENSP00000281543

Structurei

3D structure databases

ProteinModelPortaliQ8N442
SMRiQ8N442
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini66 – 247tr-type GAdd BLAST182

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0462 Eukaryota
COG0481 LUCA
GeneTreeiENSGT00550000074940
HOGENOMiHOG000020624
HOVERGENiHBG081580
InParanoidiQ8N442
KOiK21594
OMAiALIFDSW
OrthoDBiEOG091G03BP
PhylomeDBiQ8N442
TreeFamiTF314751

Family and domain databases

CDDicd03709 lepA_C, 1 hit
Gene3Di3.30.70.2570, 1 hit
HAMAPiMF_00071 LepA, 1 hit
InterProiView protein in InterPro
IPR006297 EF-4
IPR035647 EFG_III/V
IPR000640 EFG_V-like
IPR004161 EFTu-like_2
IPR031157 G_TR_CS
IPR038363 LepA_C_sf
IPR013842 LepA_CTD
IPR035654 LepA_IV
IPR027417 P-loop_NTPase
IPR005225 Small_GTP-bd_dom
IPR000795 TF_GTP-bd_dom
IPR009000 Transl_B-barrel_sf
PfamiView protein in Pfam
PF00679 EFG_C, 1 hit
PF00009 GTP_EFTU, 1 hit
PF03144 GTP_EFTU_D2, 1 hit
PF06421 LepA_C, 1 hit
PRINTSiPR00315 ELONGATNFCT
SUPFAMiSSF50447 SSF50447, 1 hit
SSF52540 SSF52540, 1 hit
SSF54980 SSF54980, 2 hits
TIGRFAMsiTIGR01393 lepA, 1 hit
TIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS00301 G_TR_1, 1 hit
PS51722 G_TR_2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q8N442-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MWTLVGRGWG CARALAPRAT GAALLVAPGP RSAPTLGAAP ESWATDRLYS
60 70 80 90 100
SAEFKEKLDM SRFPVENIRN FSIVAHVDHG KSTLADRLLE LTGTIDKTKN
110 120 130 140 150
NKQVLDKLQV ERERGITVKA QTASLFYNCE GKQYLLNLID TPGHVDFSYE
160 170 180 190 200
VSRSLSACQG VLLVVDANEG IQAQTVANFF LAFEAQLSVI PVINKIDLKN
210 220 230 240 250
ADPERVENQI EKVFDIPSDE CIKISAKLGT NVESVLQAII ERIPPPKVHR
260 270 280 290 300
KNPLRALVFD STFDQYRGVI ANVALFDGVV SKGDKIVSAH TQKTYEVNEV
310 320 330 340 350
GVLNPNEQPT HKLYAGQVGY LIAGMKDVTE AQIGDTLCLH KQPVEPLPGF
360 370 380 390 400
KSAKPMVFAG MYPLDQSEYN NLKSAIEKLT LNDSSVTVHR DSSLALGAGW
410 420 430 440 450
RLGFLGLLHM EVFNQRLEQE YNASVILTTP TVPYKAVLSS SKLIKEHREK
460 470 480 490 500
EITIINPAQF PDKSKVTEYL EPVVLGTIIT PDEYTGKIMM LCEARRAVQK
510 520 530 540 550
NMIFIDQNRV MLKYLFPLNE IVVDFYDSLK SLSSGYASFD YEDAGYQTAE
560 570 580 590 600
LVKMDILLNG NTVEELVTVV HKDKAHSIGK AICERLKDSL PRQLFEIAIQ
610 620 630 640 650
AAIGSKIIAR ETVKAYRKNV LAKCYGGDIT RKMKLLKRQA EGKKKLRKIG
660
NVEVPKDAFI KVLKTQSSK
Length:669
Mass (Da):74,328
Last modified:October 1, 2002 - v1
Checksum:i428892437C91ED36
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RBJ0D6RBJ0_HUMAN
Translation factor GUF1, mitochondr...
GUF1
98Annotation score:

Sequence cautioni

The sequence BAB15090 differs from that shown. Reason: Frameshift at position 646.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti85A → T in BAB14507 (PubMed:14702039).Curated1
Sequence conflicti417L → P in BAB14507 (PubMed:14702039).Curated1
Sequence conflicti625Y → C in BAB14507 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02889558L → P1 PublicationCorresponds to variant dbSNP:rs6447368Ensembl.1
Natural variantiVAR_028896329T → I. Corresponds to variant dbSNP:rs10470742Ensembl.1
Natural variantiVAR_077804609A → S in EIEE40. 1 PublicationCorresponds to variant dbSNP:rs879255631EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK023282 mRNA Translation: BAB14507.1
AK025248 mRNA Translation: BAB15090.1 Sequence problems.
BC036768 mRNA Translation: AAH36768.1
CCDSiCCDS3468.1
RefSeqiNP_068746.2, NM_021927.2
UniGeneiHs.546419

Genome annotation databases

EnsembliENST00000281543; ENSP00000281543; ENSG00000151806
GeneIDi60558
KEGGihsa:60558
UCSCiuc003gww.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK023282 mRNA Translation: BAB14507.1
AK025248 mRNA Translation: BAB15090.1 Sequence problems.
BC036768 mRNA Translation: AAH36768.1
CCDSiCCDS3468.1
RefSeqiNP_068746.2, NM_021927.2
UniGeneiHs.546419

3D structure databases

ProteinModelPortaliQ8N442
SMRiQ8N442
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121939, 11 interactors
IntActiQ8N442, 5 interactors
STRINGi9606.ENSP00000281543

PTM databases

iPTMnetiQ8N442
PhosphoSitePlusiQ8N442

Polymorphism and mutation databases

BioMutaiGUF1
DMDMi74728811

Proteomic databases

EPDiQ8N442
MaxQBiQ8N442
PaxDbiQ8N442
PeptideAtlasiQ8N442
PRIDEiQ8N442
ProteomicsDBi71880

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000281543; ENSP00000281543; ENSG00000151806
GeneIDi60558
KEGGihsa:60558
UCSCiuc003gww.5 human

Organism-specific databases

CTDi60558
DisGeNETi60558
EuPathDBiHostDB:ENSG00000151806.13
GeneCardsiGUF1
HGNCiHGNC:25799 GUF1
HPAiHPA003934
HPA024222
MalaCardsiGUF1
MIMi617064 gene
617065 phenotype
neXtProtiNX_Q8N442
OpenTargetsiENSG00000151806
Orphaneti3451 West syndrome
PharmGKBiPA143485485
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0462 Eukaryota
COG0481 LUCA
GeneTreeiENSGT00550000074940
HOGENOMiHOG000020624
HOVERGENiHBG081580
InParanoidiQ8N442
KOiK21594
OMAiALIFDSW
OrthoDBiEOG091G03BP
PhylomeDBiQ8N442
TreeFamiTF314751

Miscellaneous databases

ChiTaRSiGUF1 human
GenomeRNAii60558
PROiPR:Q8N442
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000151806 Expressed in 210 organ(s), highest expression level in biceps brachii
CleanExiHS_GUF1
ExpressionAtlasiQ8N442 baseline and differential
GenevisibleiQ8N442 HS

Family and domain databases

CDDicd03709 lepA_C, 1 hit
Gene3Di3.30.70.2570, 1 hit
HAMAPiMF_00071 LepA, 1 hit
InterProiView protein in InterPro
IPR006297 EF-4
IPR035647 EFG_III/V
IPR000640 EFG_V-like
IPR004161 EFTu-like_2
IPR031157 G_TR_CS
IPR038363 LepA_C_sf
IPR013842 LepA_CTD
IPR035654 LepA_IV
IPR027417 P-loop_NTPase
IPR005225 Small_GTP-bd_dom
IPR000795 TF_GTP-bd_dom
IPR009000 Transl_B-barrel_sf
PfamiView protein in Pfam
PF00679 EFG_C, 1 hit
PF00009 GTP_EFTU, 1 hit
PF03144 GTP_EFTU_D2, 1 hit
PF06421 LepA_C, 1 hit
PRINTSiPR00315 ELONGATNFCT
SUPFAMiSSF50447 SSF50447, 1 hit
SSF52540 SSF52540, 1 hit
SSF54980 SSF54980, 2 hits
TIGRFAMsiTIGR01393 lepA, 1 hit
TIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS00301 G_TR_1, 1 hit
PS51722 G_TR_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGUF1_HUMAN
AccessioniPrimary (citable) accession number: Q8N442
Secondary accession number(s): Q5XKM8, Q9H710, Q9H8U4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 141 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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