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Protein

Elongation factor G, mitochondrial

Gene

GFM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.1 Publication

Pathwayi: polypeptide chain elongation

This protein is involved in the pathway polypeptide chain elongation, which is part of Protein biosynthesis.1 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 – 60GTP8
Nucleotide bindingi120 – 124GTP5
Nucleotide bindingi174 – 177GTP4

GO - Molecular functioni

  • GTPase activity Source: UniProtKB
  • GTP binding Source: UniProtKB-KW
  • RNA binding Source: UniProtKB
  • translation elongation factor activity Source: UniProtKB

GO - Biological processi

  • mitochondrial translational elongation Source: UniProtKB

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, mitochondrial
Short name:
EF-Gmt
Alternative name(s):
Elongation factor G 1, mitochondrial
Short name:
mEF-G 1
Elongation factor G1
Short name:
hEFG1
Gene namesi
Name:GFM1
Synonyms:EFG, EFG1, GFM
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000168827.14.
HGNCiHGNC:13780. GFM1.

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:rs28939098Ensembl.1
Natural variantiVAR_076198250R → W in COXPD1. 2 PublicationsCorresponds to variant dbSNP:rs139430866Ensembl.1
Natural variantiVAR_031901496M → R in COXPD1. 1 PublicationCorresponds to variant dbSNP:rs119470020Ensembl.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 – 36MitochondrionAdd 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.

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. 10 interactors.
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

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. 1 hit.
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:rs28939098Ensembl.1
Natural variantiVAR_028303215V → I1 PublicationCorresponds to variant dbSNP:rs2303909Ensembl.1
Natural variantiVAR_076198250R → W in COXPD1. 2 PublicationsCorresponds to variant dbSNP:rs139430866Ensembl.1
Natural variantiVAR_031901496M → R in COXPD1. 1 PublicationCorresponds to variant dbSNP:rs119470020Ensembl.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: November 22, 2017
This is version 148 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