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UniProtKB - Q96RP9 (EFGM_HUMAN)

Entry version 175 (25 May 2022)
Sequence version 2 (17 Oct 2006)
Previous versions | rss
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi53 – 60GTPUniRule annotation8
Nucleotide bindingi120 – 124GTPUniRule annotation5
Nucleotide bindingi174 – 177GTPUniRule annotation4

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96RP9

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5389840, Mitochondrial translation elongation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q96RP9

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00345

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GFM1UniRule annotation
Synonyms:EFG, EFG1UniRule annotation, GFM
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:13780, GFM1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606639, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96RP9

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000168827

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Combined oxidative phosphorylation deficiency 1 (COXPD1)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA mitochondrial disease resulting in early rapidly progressive hepatoencephalopathy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07619757S → Y in COXPD1. 1 PublicationCorresponds to variant dbSNP:rs1254972325Ensembl.1
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

DisGeNET

More...DisGeNETi		85476

MalaCards human disease database

More...MalaCardsi		GFM1
MIMi609060, phenotype

Open Targets

More...OpenTargetsi		ENSG00000168827

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		137681, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134971637

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96RP9, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GFM1

Domain mapping of disease mutations (DMDM)

More...DMDMi		116241346

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 36MitochondrionUniRule annotationAdd BLAST36
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000744037 – 751Elongation factor G, mitochondrialAdd BLAST715

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei91PhosphoserineCombined sources1
Modified residuei175N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96RP9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96RP9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96RP9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96RP9

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q96RP9

PeptideAtlas

More...PeptideAtlasi		Q96RP9

PRoteomics IDEntifications database

More...PRIDEi		Q96RP9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		78000 [Q96RP9-1]
78001 [Q96RP9-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q96RP9, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96RP9

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q96RP9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q96RP9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000168827, Expressed in endothelial cell and 214 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96RP9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96RP9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000168827, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		124551, 314 interactors

Protein interaction database and analysis system

More...IntActi		Q96RP9, 28 interactors

Molecular INTeraction database

More...MINTi		Q96RP9

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000419038

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96RP9, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q96RP9

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q96RP9

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini44 – 321tr-type GAdd BLAST278

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0465, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00550000074911

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_002794_4_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96RP9

Identification of Orthologs from Complete Genome Data

More...OMAi		AATTCHW

Database of Orthologous Groups

More...OrthoDBi		637899at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96RP9

TreeFam database of animal gene trees

More...TreeFami		TF105631

Family and domain databases

Conserved Domains Database

More...CDDi		cd16262, EFG_III, 1 hit
cd01434, EFG_mtEFG1_IV, 1 hit
cd04097, mtEFG1_C, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.230.10, 1 hit
3.40.50.300, 1 hit

HAMAP database of protein families

More...HAMAPi		MF_00054_B, EF_G_EF_2_B, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

The PANTHER Classification System

More...PANTHERi		PTHR43636, PTHR43636, 1 hit

Pfam protein domain database

More...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

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00315, ELONGATNFCT

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00838, EFG_C, 1 hit
SM00889, EFG_IV, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50447, SSF50447, 1 hit
SSF52540, SSF52540, 1 hit
SSF54211, SSF54211, 1 hit
SSF54980, SSF54980, 2 hits

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00484, EF-G, 1 hit
TIGR00231, small_GTP, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00301, G_TR_1, 1 hit
PS51722, G_TR_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

Show »
Length:770
Mass (Da):85,869
Checksum:i02D5772EF01F8208
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9IZ01C9IZ01_HUMAN
Elongation factor G, mitochondrial
GFM1
591Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JA25C9JA25_HUMAN
Elongation factor G, mitochondrial
GFM1
60Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WAU4F8WAU4_HUMAN
Elongation factor G, mitochondrial
GFM1
453Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C5M4H7C5M4_HUMAN
Elongation factor G, mitochondrial
GFM1
17Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs1254972325Ensembl.1
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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_038189230G → GHFLRDFLPLLWNWDRRSGS in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS33885.1 [Q96RP9-1]
CCDS77851.1 [Q96RP9-2]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000264263.9; ENSP00000264263.5; ENSG00000168827.15 [Q96RP9-2]
ENST00000486715.6; ENSP00000419038.1; ENSG00000168827.15

Database of genes from NCBI RefSeq genomes

More...GeneIDi		85476

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:85476

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000486715.6; ENSP00000419038.1; NM_024996.7; NP_079272.4

UCSC genome browser

More...UCSCi		uc003fce.4, human [Q96RP9-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6VLZelectron microscopy2.97v1-751[»]
6VMIelectron microscopy2.96v1-751[»]
6YDPelectron microscopy3.00BC37-751[»]
6YDWelectron microscopy4.20BC37-751[»]
7A5Kelectron microscopy3.70r11-751[»]
AlphaFoldDBiQ96RP9
SMRiQ96RP9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi124551, 314 interactors
IntActiQ96RP9, 28 interactors
MINTiQ96RP9
STRINGi9606.ENSP00000419038

PTM databases

GlyGeniQ96RP9, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ96RP9
MetOSiteiQ96RP9
PhosphoSitePlusiQ96RP9

Genetic variation databases

BioMutaiGFM1
DMDMi116241346

Proteomic databases

EPDiQ96RP9
jPOSTiQ96RP9
MassIVEiQ96RP9
MaxQBiQ96RP9
PaxDbiQ96RP9
PeptideAtlasiQ96RP9
PRIDEiQ96RP9
ProteomicsDBi78000 [Q96RP9-1]
78001 [Q96RP9-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		46773, 184 antibodies from 29 providers

The DNASU plasmid repository

More...DNASUi		85476

Genome annotation databases

EnsembliENST00000264263.9; ENSP00000264263.5; ENSG00000168827.15 [Q96RP9-2]
ENST00000486715.6; ENSP00000419038.1; ENSG00000168827.15
GeneIDi85476
KEGGihsa:85476
MANE-SelectiENST00000486715.6; ENSP00000419038.1; NM_024996.7; NP_079272.4
UCSCiuc003fce.4, human [Q96RP9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		85476
DisGeNETi85476

GeneCards: human genes, protein and diseases

More...GeneCardsi		GFM1
HGNCiHGNC:13780, GFM1
HPAiENSG00000168827, Low tissue specificity
MalaCardsiGFM1
MIMi606639, gene
609060, phenotype
neXtProtiNX_Q96RP9
OpenTargetsiENSG00000168827
Orphaneti137681, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
PharmGKBiPA134971637
VEuPathDBiHostDB:ENSG00000168827

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0465, Eukaryota
GeneTreeiENSGT00550000074911
HOGENOMiCLU_002794_4_0_1
InParanoidiQ96RP9
OMAiAATTCHW
OrthoDBi637899at2759
PhylomeDBiQ96RP9
TreeFamiTF105631

Enzyme and pathway databases

UniPathwayiUPA00345
PathwayCommonsiQ96RP9
ReactomeiR-HSA-5389840, Mitochondrial translation elongation
SignaLinkiQ96RP9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		85476, 421 hits in 1088 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		GFM1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GFM1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		85476
PharosiQ96RP9, Tbio

Protein Ontology

More...PROi		PR:Q96RP9
RNActiQ96RP9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000168827, Expressed in endothelial cell and 214 other tissues
ExpressionAtlasiQ96RP9, baseline and differential
GenevisibleiQ96RP9, HS

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
3.40.50.300, 1 hit
HAMAPiMF_00054_B, EF_G_EF_2_B, 1 hit
InterProiView 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
PANTHERiPTHR43636, PTHR43636, 1 hit
PfamiView 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
PRINTSiPR00315, ELONGATNFCT
SMARTiView protein in SMART
SM00838, EFG_C, 1 hit
SM00889, EFG_IV, 1 hit
SUPFAMiSSF50447, SSF50447, 1 hit
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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEFGM_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96RP9
Secondary accession number(s): A6NCI9
, B2RCB9, B3KRW1, Q6GTN2, Q96T39
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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