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UniProtKB - Q96RP9 (EFGM_HUMAN)

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Protein

Elongation factor G, mitochondrial

Gene

GFM1

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

Functioni

Mitochondrial GTPase that catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome. Does not mediate the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis.UniRule annotation1 Publication

Pathwayi: polypeptide chain elongation

This protein is involved in the pathway polypeptide chain elongation, which is part of Protein biosynthesis.UniRule annotation1 Publication
View all proteins of this organism that are known to be involved in the pathway polypeptide chain elongation and in Protein biosynthesis.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi53 – 60GTPUniRule annotation8
Nucleotide bindingi120 – 124GTPUniRule annotation5
Nucleotide bindingi174 – 177GTPUniRule annotation4

GO - Molecular functioni

  • GTPase activity Source: UniProtKB
  • GTP binding Source: UniProtKB-KW
  • RNA binding Source: UniProtKB
  • translation elongation factor activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • mitochondrial translational elongation Source: UniProtKB
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionElongation factor
Biological processProtein biosynthesis
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-5389840 Mitochondrial translation elongation
UniPathwayiUPA00345

Names & Taxonomyi

Protein namesi
Recommended name:
Elongation factor G, mitochondrialUniRule annotation
Short name:
EF-GmtUniRule annotation
Alternative name(s):
Elongation factor G 1, mitochondrialUniRule annotation
Short name:
mEF-G 1UniRule annotation
Elongation factor G1UniRule annotation
Short name:
hEFG1
Gene namesi
Name:GFM1UniRule annotation
Synonyms:EFG, EFG1UniRule annotation, GFM
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000168827.14
HGNCiHGNC:13780 GFM1
MIMi606639 gene
neXtProtiNX_Q96RP9

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

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Combined oxidative phosphorylation deficiency 1 (COXPD1)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA mitochondrial disease resulting in early rapidly progressive hepatoencephalopathy.
See also OMIM:609060
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07619757S → Y in COXPD1. 1 Publication1
Natural variantiVAR_021512174N → S in COXPD1. 1 PublicationCorresponds to variant dbSNP:rs119470018EnsemblClinVar.1
Natural variantiVAR_076198250R → W in COXPD1. 2 PublicationsCorresponds to variant dbSNP:rs139430866EnsemblClinVar.1
Natural variantiVAR_031901496M → R in COXPD1. 1 PublicationCorresponds to variant dbSNP:rs119470020EnsemblClinVar.1

Keywords - Diseasei

Primary mitochondrial disease

Organism-specific databases

DisGeNETi85476
MalaCardsiGFM1
MIMi609060 phenotype
OpenTargetsiENSG00000168827
Orphaneti137681 Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
PharmGKBiPA134971637

Polymorphism and mutation databases

BioMutaiGFM1
DMDMi116241346

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 36MitochondrionUniRule annotationAdd BLAST36
ChainiPRO_000000744037 – 751Elongation factor G, mitochondrialAdd BLAST715

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei91PhosphoserineCombined sources1
Modified residuei175N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ96RP9
MaxQBiQ96RP9
PaxDbiQ96RP9
PeptideAtlasiQ96RP9
PRIDEiQ96RP9
ProteomicsDBi78000
78001 [Q96RP9-2]

PTM databases

iPTMnetiQ96RP9
PhosphoSitePlusiQ96RP9

Expressioni

Gene expression databases

BgeeiENSG00000168827
CleanExiHS_GFM1
ExpressionAtlasiQ96RP9 baseline and differential
GenevisibleiQ96RP9 HS

Organism-specific databases

HPAiHPA034764
HPA034765
HPA061405

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi124551, 20 interactors
IntActiQ96RP9, 14 interactors
MINTiQ96RP9
STRINGi9606.ENSP00000419038

Structurei

3D structure databases

ProteinModelPortaliQ96RP9
SMRiQ96RP9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini44 – 321tr-type GAdd BLAST278

Sequence similaritiesi

Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0465 Eukaryota
COG0480 LUCA
GeneTreeiENSGT00550000074911
HOGENOMiHOG000231585
InParanoidiQ96RP9
KOiK02355
OMAiISRIYQM
OrthoDBiEOG091G029P
PhylomeDBiQ96RP9
TreeFamiTF105631

Family and domain databases

CDDicd16262 EFG_III, 1 hit
cd01434 EFG_mtEFG1_IV, 1 hit
cd04097 mtEFG1_C, 1 hit
Gene3Di3.30.230.10, 2 hits
HAMAPiMF_00054_B EF_G_EF_2_B, 1 hit
InterProiView protein in InterPro
IPR009022 EFG_III
IPR035647 EFG_III/V
IPR035649 EFG_V
IPR000640 EFG_V-like
IPR004161 EFTu-like_2
IPR031157 G_TR_CS
IPR027417 P-loop_NTPase
IPR020568 Ribosomal_S5_D2-typ_fold
IPR014721 Ribosomal_S5_D2-typ_fold_subgr
IPR005225 Small_GTP-bd_dom
IPR000795 TF_GTP-bd_dom
IPR009000 Transl_B-barrel_sf
IPR004540 Transl_elong_EFG/EF2
IPR005517 Transl_elong_EFG/EF2_IV
PfamiView protein in Pfam
PF00679 EFG_C, 1 hit
PF03764 EFG_IV, 1 hit
PF00009 GTP_EFTU, 1 hit
PF03144 GTP_EFTU_D2, 1 hit
PRINTSiPR00315 ELONGATNFCT
SMARTiView protein in SMART
SM00838 EFG_C, 1 hit
SM00889 EFG_IV, 1 hit
SUPFAMiSSF50447 SSF50447, 2 hits
SSF52540 SSF52540, 1 hit
SSF54211 SSF54211, 1 hit
SSF54980 SSF54980, 2 hits
TIGRFAMsiTIGR00484 EF-G, 1 hit
TIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS00301 G_TR_1, 1 hit
PS51722 G_TR_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96RP9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRLLGAAAVA ALGRGRAPAS LGWQRKQVNW KACRWSSSGV IPNEKIRNIG 
        60         70         80         90        100
ISAHIDSGKT TLTERVLYYT GRIAKMHEVK GKDGVGAVMD SMELERQRGI 
       110        120        130        140        150
TIQSAATYTM WKDVNINIID TPGHVDFTIE VERALRVLDG AVLVLCAVGG 
       160        170        180        190        200
VQCQTMTVNR QMKRYNVPFL TFINKLDRMG SNPARALQQM RSKLNHNAAF 
       210        220        230        240        250
MQIPMGLEGN FKGIVDLIEE RAIYFDGDFG QIVRYGEIPA ELRAAATDHR 
       260        270        280        290        300
QELIECVANS DEQLGEMFLE EKIPSISDLK LAIRRATLKR SFTPVFLGSA 
       310        320        330        340        350
LKNKGVQPLL DAVLEYLPNP SEVQNYAILN KEDDSKEKTK ILMNSSRDNS 
       360        370        380        390        400
HPFVGLAFKL EVGRFGQLTY VRSYQGELKK GDTIYNTRTR KKVRLQRLAR 
       410        420        430        440        450
MHADMMEDVE EVYAGDICAL FGIDCASGDT FTDKANSGLS MESIHVPDPV 
       460        470        480        490        500
ISIAMKPSNK NDLEKFSKGI GRFTREDPTF KVYFDTENKE TVISGMGELH 
       510        520        530        540        550
LEIYAQRLER EYGCPCITGK PKVAFRETIT APVPFDFTHK KQSGGAGQYG 
       560        570        580        590        600
KVIGVLEPLD PEDYTKLEFS DETFGSNIPK QFVPAVEKGF LDACEKGPLS 
       610        620        630        640        650
GHKLSGLRFV LQDGAHHMVD SNEISFIRAG EGALKQALAN ATLCILEPIM 
       660        670        680        690        700
AVEVVAPNEF QGQVIAGINR RHGVITGQDG VEDYFTLYAD VPLNDMFGYS 
       710        720        730        740        750
TELRSCTEGK GEYTMEYSRY QPCLPSTQED VINKYLEATG QLPVKKGKAK 

N
Length:751
Mass (Da):83,471
Last modified:October 17, 2006 - v2
Checksum:i5937FFB24A089E2E
GO
Isoform 2 (identifier: Q96RP9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     230-230: G → GHFLRDFLPLLWNWDRRSGS

Note: No experimental confirmation available.
Show »
Length:770
Mass (Da):85,869
Checksum:i02D5772EF01F8208
GO

Sequence cautioni

The sequence EAW78682 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti373S → C in AAK58877 (PubMed:11374907).Curated1
Sequence conflicti578I → M in AAK58877 (PubMed:11374907).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07619757S → Y in COXPD1. 1 Publication1
Natural variantiVAR_021512174N → S in COXPD1. 1 PublicationCorresponds to variant dbSNP:rs119470018EnsemblClinVar.1
Natural variantiVAR_028303215V → I1 PublicationCorresponds to variant dbSNP:rs2303909EnsemblClinVar.1
Natural variantiVAR_076198250R → W in COXPD1. 2 PublicationsCorresponds to variant dbSNP:rs139430866EnsemblClinVar.1
Natural variantiVAR_031901496M → R in COXPD1. 1 PublicationCorresponds to variant dbSNP:rs119470020EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_038189230G → GHFLRDFLPLLWNWDRRSGS in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF309777 mRNA Translation: AAK58877.1
AF367998 mRNA Translation: AAK53402.1
AK092293 mRNA Translation: BAG52523.1
AK315031 mRNA Translation: BAG37516.1
AC080013 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78677.1
CH471052 Genomic DNA Translation: EAW78682.1 Sequence problems.
BC049210 mRNA Translation: AAH49210.1
CCDSiCCDS33885.1 [Q96RP9-1]
CCDS77851.1 [Q96RP9-2]
RefSeqiNP_001295093.1, NM_001308164.1 [Q96RP9-2]
NP_001295095.1, NM_001308166.1
NP_079272.4, NM_024996.5 [Q96RP9-1]
UniGeneiHs.518355

Genome annotation databases

EnsembliENST00000264263; ENSP00000264263; ENSG00000168827 [Q96RP9-2]
ENST00000486715; ENSP00000419038; ENSG00000168827 [Q96RP9-1]
GeneIDi85476
KEGGihsa:85476
UCSCiuc003fce.4 human [Q96RP9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiEFGM_HUMAN
AccessioniPrimary (citable) accession number: Q96RP9
Secondary accession number(s): A6NCI9
, B2RCB9, B3KRW1, Q6GTN2, Q96T39
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: October 17, 2006
Last modified: June 20, 2018
This is version 152 of the entry and version 2 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. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

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