UniProtKB - Q96RP9 (EFGM_HUMAN)
Elongation factor G, mitochondrial
GFM1
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: polypeptide chain elongation Pathwayi
This protein is involved in the pathway polypeptide chain elongation, which is part of Protein biosynthesis.UniRule annotation1 PublicationView all proteins of this organism that are known to be involved in the pathway polypeptide chain elongation and in Protein biosynthesis.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 53 – 60 | GTPUniRule annotation | 8 | |
Nucleotide bindingi | 120 – 124 | GTPUniRule annotation | 5 | |
Nucleotide bindingi | 174 – 177 | GTPUniRule annotation | 4 |
GO - Molecular functioni
- GTPase activity Source: UniProtKB
- GTP binding Source: UniProtKB-UniRule
- RNA binding Source: UniProtKB
- translation elongation factor activity Source: UniProtKB
GO - Biological processi
- mitochondrial translational elongation Source: UniProtKB
Keywordsi
Molecular function | Elongation factor |
Biological process | Protein biosynthesis |
Ligand | GTP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q96RP9 |
Reactomei | R-HSA-5389840, Mitochondrial translation elongation |
SignaLinki | Q96RP9 |
UniPathwayi | UPA00345 |
Names & Taxonomyi
Protein namesi | Recommended name: Elongation factor G, mitochondrialUniRule annotationShort 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 | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:13780, GFM1 |
MIMi | 606639, gene |
neXtProti | NX_Q96RP9 |
VEuPathDBi | HostDB:ENSG00000168827 |
Subcellular locationi
Mitochondrion
- Mitochondrion UniRule annotation
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: GO_Central
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Combined oxidative phosphorylation deficiency 1 (COXPD1)4 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076197 | 57 | S → Y in COXPD1. 1 PublicationCorresponds to variant dbSNP:rs1254972325Ensembl. | 1 | |
Natural variantiVAR_021512 | 174 | N → S in COXPD1. 1 PublicationCorresponds to variant dbSNP:rs119470018EnsemblClinVar. | 1 | |
Natural variantiVAR_076198 | 250 | R → W in COXPD1. 2 PublicationsCorresponds to variant dbSNP:rs139430866EnsemblClinVar. | 1 | |
Natural variantiVAR_031901 | 496 | M → R in COXPD1. 1 PublicationCorresponds to variant dbSNP:rs119470020EnsemblClinVar. | 1 |
Keywords - Diseasei
Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 85476 |
MalaCardsi | GFM1 |
MIMi | 609060, phenotype |
OpenTargetsi | ENSG00000168827 |
Orphaneti | 137681, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
PharmGKBi | PA134971637 |
Miscellaneous databases
Pharosi | Q96RP9, Tbio |
Genetic variation databases
BioMutai | GFM1 |
DMDMi | 116241346 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 36 | MitochondrionUniRule annotationAdd BLAST | 36 | |
ChainiPRO_0000007440 | 37 – 751 | Elongation factor G, mitochondrialAdd BLAST | 715 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 91 | PhosphoserineCombined sources | 1 | |
Modified residuei | 175 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q96RP9 |
jPOSTi | Q96RP9 |
MassIVEi | Q96RP9 |
MaxQBi | Q96RP9 |
PaxDbi | Q96RP9 |
PeptideAtlasi | Q96RP9 |
PRIDEi | Q96RP9 |
ProteomicsDBi | 78000 [Q96RP9-1] 78001 [Q96RP9-2] |
PTM databases
GlyGeni | Q96RP9, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q96RP9 |
MetOSitei | Q96RP9 |
PhosphoSitePlusi | Q96RP9 |
Expressioni
Gene expression databases
Bgeei | ENSG00000168827, Expressed in endothelial cell and 214 other tissues |
ExpressionAtlasi | Q96RP9, baseline and differential |
Genevisiblei | Q96RP9, HS |
Organism-specific databases
HPAi | ENSG00000168827, Low tissue specificity |
Interactioni
Binary interactionsi
Q96RP9
With | #Exp. | IntAct |
---|---|---|
TRIM63 [Q969Q1] | 2 | EBI-2255048,EBI-5661333 |
NS [P03508] from Influenza A virus (strain A/Puerto Rico/8/1934 H1N1). | 2 | EBI-2255048,EBI-2547979 |
Protein-protein interaction databases
BioGRIDi | 124551, 314 interactors |
IntActi | Q96RP9, 28 interactors |
MINTi | Q96RP9 |
STRINGi | 9606.ENSP00000419038 |
Miscellaneous databases
RNActi | Q96RP9, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 44 – 321 | tr-type GAdd BLAST | 278 |
Sequence similaritiesi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG0465, Eukaryota |
GeneTreei | ENSGT00550000074911 |
HOGENOMi | CLU_002794_4_0_1 |
InParanoidi | Q96RP9 |
OMAi | AATTCHW |
OrthoDBi | 637899at2759 |
PhylomeDBi | Q96RP9 |
TreeFami | TF105631 |
Family and domain databases
CDDi | cd16262, EFG_III, 1 hit cd01434, EFG_mtEFG1_IV, 1 hit cd04097, mtEFG1_C, 1 hit |
Gene3Di | 3.30.230.10, 1 hit 3.40.50.300, 1 hit |
HAMAPi | MF_00054_B, EF_G_EF_2_B, 1 hit |
InterProi | View protein in InterPro IPR045044, EFG1-like IPR041095, EFG_II 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, T_Tr_GTP-bd_dom IPR009000, Transl_B-barrel_sf IPR004540, Transl_elong_EFG/EF2 IPR005517, Transl_elong_EFG/EF2_IV |
PANTHERi | PTHR43636, PTHR43636, 1 hit |
Pfami | View protein in Pfam PF00679, EFG_C, 1 hit PF14492, EFG_III, 1 hit PF03764, EFG_IV, 1 hit PF00009, GTP_EFTU, 1 hit PF03144, GTP_EFTU_D2, 1 hit |
PRINTSi | PR00315, ELONGATNFCT |
SMARTi | View protein in SMART SM00838, EFG_C, 1 hit SM00889, EFG_IV, 1 hit |
SUPFAMi | SSF50447, SSF50447, 1 hit SSF52540, SSF52540, 1 hit SSF54211, SSF54211, 1 hit SSF54980, SSF54980, 2 hits |
TIGRFAMsi | TIGR00484, EF-G, 1 hit TIGR00231, small_GTP, 1 hit |
PROSITEi | View protein in PROSITE PS00301, G_TR_1, 1 hit PS51722, G_TR_2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9IZ01 | C9IZ01_HUMAN | Elongation factor G, mitochondrial | GFM1 | 591 | Annotation score: | ||
C9JA25 | C9JA25_HUMAN | Elongation factor G, mitochondrial | GFM1 | 60 | Annotation score: | ||
F8WAU4 | F8WAU4_HUMAN | Elongation factor G, mitochondrial | GFM1 | 453 | Annotation score: | ||
H7C5M4 | H7C5M4_HUMAN | Elongation factor G, mitochondrial | GFM1 | 17 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 373 | S → C in AAK58877 (PubMed:11374907).Curated | 1 | |
Sequence conflicti | 578 | I → M in AAK58877 (PubMed:11374907).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076197 | 57 | S → Y in COXPD1. 1 PublicationCorresponds to variant dbSNP:rs1254972325Ensembl. | 1 | |
Natural variantiVAR_021512 | 174 | N → S in COXPD1. 1 PublicationCorresponds to variant dbSNP:rs119470018EnsemblClinVar. | 1 | |
Natural variantiVAR_028303 | 215 | V → I1 PublicationCorresponds to variant dbSNP:rs2303909EnsemblClinVar. | 1 | |
Natural variantiVAR_076198 | 250 | R → W in COXPD1. 2 PublicationsCorresponds to variant dbSNP:rs139430866EnsemblClinVar. | 1 | |
Natural variantiVAR_031901 | 496 | M → R in COXPD1. 1 PublicationCorresponds to variant dbSNP:rs119470020EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_038189 | 230 | G → GHFLRDFLPLLWNWDRRSGS in isoform 2. 1 Publication | 1 |
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 |
CCDSi | CCDS33885.1 [Q96RP9-1] CCDS77851.1 [Q96RP9-2] |
RefSeqi | NP_001295093.1, NM_001308164.1 [Q96RP9-2] NP_001295095.1, NM_001308166.1 NP_079272.4, NM_024996.5 [Q96RP9-1] |
Genome annotation databases
Ensembli | ENST00000264263.9; ENSP00000264263.5; ENSG00000168827.15 [Q96RP9-2] ENST00000486715.6; ENSP00000419038.1; ENSG00000168827.15 |
GeneIDi | 85476 |
KEGGi | hsa:85476 |
MANE-Selecti | ENST00000486715.6; ENSP00000419038.1; NM_024996.7; NP_079272.4 |
UCSCi | uc003fce.4, human [Q96RP9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS33885.1 [Q96RP9-1] CCDS77851.1 [Q96RP9-2] |
RefSeqi | NP_001295093.1, NM_001308164.1 [Q96RP9-2] NP_001295095.1, NM_001308166.1 NP_079272.4, NM_024996.5 [Q96RP9-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6VLZ | electron microscopy | 2.97 | v | 1-751 | [»] | |
6VMI | electron microscopy | 2.96 | v | 1-751 | [»] | |
6YDP | electron microscopy | 3.00 | BC | 37-751 | [»] | |
6YDW | electron microscopy | 4.20 | BC | 37-751 | [»] | |
7A5K | electron microscopy | 3.70 | r1 | 1-751 | [»] | |
AlphaFoldDBi | Q96RP9 | |||||
SMRi | Q96RP9 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 124551, 314 interactors |
IntActi | Q96RP9, 28 interactors |
MINTi | Q96RP9 |
STRINGi | 9606.ENSP00000419038 |
PTM databases
GlyGeni | Q96RP9, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q96RP9 |
MetOSitei | Q96RP9 |
PhosphoSitePlusi | Q96RP9 |
Genetic variation databases
BioMutai | GFM1 |
DMDMi | 116241346 |
Proteomic databases
EPDi | Q96RP9 |
jPOSTi | Q96RP9 |
MassIVEi | Q96RP9 |
MaxQBi | Q96RP9 |
PaxDbi | Q96RP9 |
PeptideAtlasi | Q96RP9 |
PRIDEi | Q96RP9 |
ProteomicsDBi | 78000 [Q96RP9-1] 78001 [Q96RP9-2] |
Protocols and materials databases
Antibodypediai | 46773, 184 antibodies from 29 providers |
DNASUi | 85476 |
Genome annotation databases
Ensembli | ENST00000264263.9; ENSP00000264263.5; ENSG00000168827.15 [Q96RP9-2] ENST00000486715.6; ENSP00000419038.1; ENSG00000168827.15 |
GeneIDi | 85476 |
KEGGi | hsa:85476 |
MANE-Selecti | ENST00000486715.6; ENSP00000419038.1; NM_024996.7; NP_079272.4 |
UCSCi | uc003fce.4, human [Q96RP9-1] |
Organism-specific databases
CTDi | 85476 |
DisGeNETi | 85476 |
GeneCardsi | GFM1 |
HGNCi | HGNC:13780, GFM1 |
HPAi | ENSG00000168827, Low tissue specificity |
MalaCardsi | GFM1 |
MIMi | 606639, gene 609060, phenotype |
neXtProti | NX_Q96RP9 |
OpenTargetsi | ENSG00000168827 |
Orphaneti | 137681, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
PharmGKBi | PA134971637 |
VEuPathDBi | HostDB:ENSG00000168827 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0465, Eukaryota |
GeneTreei | ENSGT00550000074911 |
HOGENOMi | CLU_002794_4_0_1 |
InParanoidi | Q96RP9 |
OMAi | AATTCHW |
OrthoDBi | 637899at2759 |
PhylomeDBi | Q96RP9 |
TreeFami | TF105631 |
Enzyme and pathway databases
UniPathwayi | UPA00345 |
PathwayCommonsi | Q96RP9 |
Reactomei | R-HSA-5389840, Mitochondrial translation elongation |
SignaLinki | Q96RP9 |
Miscellaneous databases
BioGRID-ORCSi | 85476, 421 hits in 1088 CRISPR screens |
ChiTaRSi | GFM1, human |
GeneWikii | GFM1 |
GenomeRNAii | 85476 |
Pharosi | Q96RP9, Tbio |
PROi | PR:Q96RP9 |
RNActi | Q96RP9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000168827, Expressed in endothelial cell and 214 other tissues |
ExpressionAtlasi | Q96RP9, baseline and differential |
Genevisiblei | Q96RP9, HS |
Family and domain databases
CDDi | cd16262, EFG_III, 1 hit cd01434, EFG_mtEFG1_IV, 1 hit cd04097, mtEFG1_C, 1 hit |
Gene3Di | 3.30.230.10, 1 hit 3.40.50.300, 1 hit |
HAMAPi | MF_00054_B, EF_G_EF_2_B, 1 hit |
InterProi | View protein in InterPro IPR045044, EFG1-like IPR041095, EFG_II 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, T_Tr_GTP-bd_dom IPR009000, Transl_B-barrel_sf IPR004540, Transl_elong_EFG/EF2 IPR005517, Transl_elong_EFG/EF2_IV |
PANTHERi | PTHR43636, PTHR43636, 1 hit |
Pfami | View protein in Pfam PF00679, EFG_C, 1 hit PF14492, EFG_III, 1 hit PF03764, EFG_IV, 1 hit PF00009, GTP_EFTU, 1 hit PF03144, GTP_EFTU_D2, 1 hit |
PRINTSi | PR00315, ELONGATNFCT |
SMARTi | View protein in SMART SM00838, EFG_C, 1 hit SM00889, EFG_IV, 1 hit |
SUPFAMi | SSF50447, SSF50447, 1 hit SSF52540, SSF52540, 1 hit SSF54211, SSF54211, 1 hit SSF54980, SSF54980, 2 hits |
TIGRFAMsi | TIGR00484, EF-G, 1 hit TIGR00231, small_GTP, 1 hit |
PROSITEi | View protein in PROSITE PS00301, G_TR_1, 1 hit PS51722, G_TR_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | EFGM_HUMAN | |
Accessioni | Q96RP9Primary (citable) accession number: Q96RP9 Secondary accession number(s): A6NCI9 Q96T39 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 27, 2003 |
Last sequence update: | October 17, 2006 | |
Last modified: | May 25, 2022 | |
This is version 175 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families