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Entry version 164 (16 Oct 2019)
Sequence version 1 (01 Dec 2001)
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Protein

Ribosome-releasing factor 2, mitochondrial

Gene

GFM2

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 mediates the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis. Acts in collaboration with MRRF. GTP hydrolysis follows the ribosome disassembly and probably occurs on the ribosome large subunit. Not involved in the GTP-dependent ribosomal translocation step during translation elongation.UniRule annotation1 Publication

Miscellaneous

This protein may be expected to contain an N-terminal transit peptide but none has been predicted.UniRule annotation

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 bindingi77 – 84GTPUniRule annotation8
Nucleotide bindingi141 – 145GTPUniRule annotation5
Nucleotide bindingi195 – 198GTPUniRule 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

GO - Biological processi

<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

Biological processProtein biosynthesis
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5419276 Mitochondrial translation termination

<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_and_taxonomy_section">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:
Ribosome-releasing factor 2, mitochondrialUniRule annotation
Short name:
RRF2mtUniRule annotation
Alternative name(s):
Elongation factor G 2, mitochondrialUniRule annotation
Short name:
EF-G2mtUniRule annotation
Short name:
mEF-G 2UniRule annotation
Elongation factor G2
Short name:
hEFG2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:GFM2UniRule annotation
Synonyms:EFG2UniRule annotation
ORF Names:MSTP027
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 5

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29682 GFM2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606544 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q969S9

<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

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

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 39 (COXPD39)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder due to mitochondrial dysfunction and characterized by global developmental delay, axial hypotonia, dystonia, dysarthria, impaired intellectual development with poor speech, and deficiencies of the mitochondrial respiratory chain enzyme complexes. Neuroimaging shows abnormalities in the putamen and caudate nuclei, along with subcortical white matter involvement.
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_08219392Y → S in COXPD39. 1 Publication1
Natural variantiVAR_082194190R → Q in COXPD39. 1 Publication1
Natural variantiVAR_082195576D → E in COXPD39; unknown pathological significance; may affect splicing. 1 Publication1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
84340

MalaCards human disease database

More...
MalaCardsi
GFM2
MIMi618397 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000164347

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134949527

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q969S9

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GFM2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
28201798

<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 polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000074501 – 779Ribosome-releasing factor 2, mitochondrialAdd BLAST779

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q969S9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q969S9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q969S9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q969S9

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

More...
PaxDbi
Q969S9

PeptideAtlas

More...
PeptideAtlasi
Q969S9

PRoteomics IDEntifications database

More...
PRIDEi
Q969S9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
75837 [Q969S9-1]
75838 [Q969S9-2]
75839 [Q969S9-3]
75840 [Q969S9-4]
75841 [Q969S9-5]

PTM databases

CarbonylDB database of protein carbonylation sites

More...
CarbonylDBi
Q969S9

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q969S9

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

More...
PhosphoSitePlusi
Q969S9

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000164347 Expressed in 207 organ(s), highest expression level in quadriceps femoris

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q969S9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q969S9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA036863

<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_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
124062, 22 interactors

Database of interacting proteins

More...
DIPi
DIP-53437N

Protein interaction database and analysis system

More...
IntActi
Q969S9, 19 interactors

Molecular INTeraction database

More...
MINTi
Q969S9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000296805

<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

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

More...
SMRi
Q969S9

Database of comparative protein structure models

More...
ModBasei
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_and_domains_section">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>Domaini68 – 353tr-type GAdd BLAST286

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0465 Eukaryota
COG0480 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00550000074890

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231585

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q969S9

KEGG Orthology (KO)

More...
KOi
K02355

Identification of Orthologs from Complete Genome Data

More...
OMAi
MDDMVGG

Database of Orthologous Groups

More...
OrthoDBi
637899at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q969S9

TreeFam database of animal gene trees

More...
TreeFami
TF314848

Family and domain databases

Conserved Domains Database

More...
CDDi
cd16262 EFG_III, 1 hit
cd03713 EFG_mtEFG_C, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.230.10, 1 hit

HAMAP database of protein families

More...
HAMAPi
MF_03059 mEF_G_2, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR030851 EFG2
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 TF_GTP-bd_dom
IPR009000 Transl_B-barrel_sf
IPR005517 Transl_elong_EFG/EF2_IV

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00679 EFG_C, 1 hit
PF14492 EFG_II, 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
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_length">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 (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

This entry describes 5 <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 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q969S9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><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
MLTNLRIFAM SHQTIPSVYI NNICCYKIRA SLKRLKPHVP LGRNCSSLPG
60 70 80 90 100
LIGNDIKSLH SIINPPIAKI RNIGIMAHID AGKTTTTERI LYYSGYTRSL
110 120 130 140 150
GDVDDGDTVT DFMAQERERG ITIQSAAVTF DWKGYRVNLI DTPGHVDFTL
160 170 180 190 200
EVERCLRVLD GAVAVFDASA GVEAQTLTVW RQADKHNIPR ICFLNKMDKT
210 220 230 240 250
GASFKYAVES IREKLKAKPL LLQLPIGEAK TFKGVVDVVM KEKLLWNCNS
260 270 280 290 300
NDGKDFERKP LLEMNDPELL KETTEARNAL IEQVADLDDE FADLVLEEFS
310 320 330 340 350
ENFDLLPAEK LQTAIHRVTL AQTAVPVLCG SALKNKGIQP LLDAVTMYLP
360 370 380 390 400
SPEERNYEFL QWYKDDLCAL AFKVLHDKQR GPLVFMRIYS GTIKPQLAIH
410 420 430 440 450
NINGNCTERI SRLLLPFADQ HVEIPSLTAG NIALTVGLKH TATGDTIVSS
460 470 480 490 500
KSSALAAARR AEREGEKKHR QNNEAERLLL AGVEIPEPVF FCTIEPPSLS
510 520 530 540 550
KQPDLEHALK CLQREDPSLK VRLDPDSGQT VLCGMGELHI EIIHDRIKRE
560 570 580 590 600
YGLETYLGPL QVAYRETILN SVRATDTLDR TLGDKRHLVT VEVEARPIET
610 620 630 640 650
SSVMPVIEFE YAESINEGLL KVSQEAIENG IHSACLQGPL LGSPIQDVAI
660 670 680 690 700
TLHSLTIHPG TSTTMISACV SRCVQKALKK ADKQVLEPLM NLEVTVARDY
710 720 730 740 750
LSPVLADLAQ RRGNIQEIQT RQDNKVVIGF VPLAEIMGYS TVLRTLTSGS
760 770
ATFALELSTY QAMNPQDQNT LLNRRSGLT
Length:779
Mass (Da):86,601
Last modified:December 1, 2001 - v1
<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:i856B4E26FD9DD94E
GO
Isoform 2 (identifier: Q969S9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     361-407: Missing.

Note: No experimental confirmation available.
Show »
Length:732
Mass (Da):81,200
Checksum:i15869E090CB0848A
GO
Isoform 3 (identifier: Q969S9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     608-609: Missing.

Note: No experimental confirmation available.
Show »
Length:777
Mass (Da):86,324
Checksum:i539970B070FB4904
GO
Isoform 4 (identifier: Q969S9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     530-531: TV → IP
     532-709: Missing.

Note: No experimental confirmation available.
Show »
Length:601
Mass (Da):67,068
Checksum:iC712D5773F21E83E
GO
Isoform 5 (identifier: Q969S9-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     504-513: DLEHALKCLQ → GINGLSVSTN
     514-779: Missing.

Note: No experimental confirmation available.
Show »
Length:513
Mass (Da):57,060
Checksum:i81B3AF2019E9D71F
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RAL1D6RAL1_HUMAN
Ribosome-releasing factor 2, mitoch...
GFM2
285Annotation 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>
D6RF75D6RF75_HUMAN
Ribosome-releasing factor 2, mitoch...
GFM2
64Annotation 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>

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 conflicti59L → I in AAH30612 (PubMed:15489334).Curated1
Sequence conflicti201G → V in AAS49035 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05398364N → S. Corresponds to variant dbSNP:rs957680EnsemblClinVar.1
Natural variantiVAR_08219392Y → S in COXPD39. 1 Publication1
Natural variantiVAR_082194190R → Q in COXPD39. 1 Publication1
Natural variantiVAR_053984300S → C. Corresponds to variant dbSNP:rs16872235EnsemblClinVar.1
Natural variantiVAR_060200425P → H1 PublicationCorresponds to variant dbSNP:rs17852780Ensembl.1
Natural variantiVAR_082195576D → E in COXPD39; unknown pathological significance; may affect splicing. 1 Publication1
Natural variantiVAR_060201594E → G1 PublicationCorresponds to variant dbSNP:rs17856872Ensembl.1
Natural variantiVAR_060202735E → G1 PublicationCorresponds to variant dbSNP:rs17856871Ensembl.1
Natural variantiVAR_053985774R → Q. Corresponds to variant dbSNP:rs1048167EnsemblClinVar.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_001363361 – 407Missing in isoform 2. 1 PublicationAdd BLAST47
Alternative sequenceiVSP_038190504 – 513DLEHALKCLQ → GINGLSVSTN in isoform 5. 1 Publication10
Alternative sequenceiVSP_038191514 – 779Missing in isoform 5. 1 PublicationAdd BLAST266
Alternative sequenceiVSP_038192530 – 531TV → IP in isoform 4. 1 Publication2
Alternative sequenceiVSP_038193532 – 709Missing in isoform 4. 1 PublicationAdd BLAST178
Alternative sequenceiVSP_038194608 – 609Missing in isoform 3. 1 Publication2

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF367997 mRNA Translation: AAK53401.1
AY453587 mRNA Translation: AAS49035.1
AK025314 mRNA Translation: BAB15109.1
AF111808 mRNA Translation: AAL39010.1
CH471084 Genomic DNA Translation: EAW95744.1
BC015712 mRNA Translation: AAH15712.1
BC030612 mRNA Translation: AAH30612.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS4023.1 [Q969S9-1]
CCDS4024.1 [Q969S9-2]
CCDS47232.1 [Q969S9-5]

NCBI Reference Sequences

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RefSeqi
NP_001268231.1, NM_001281302.1
NP_115756.2, NM_032380.4 [Q969S9-1]
NP_733781.1, NM_170681.2 [Q969S9-5]
NP_733792.1, NM_170691.2 [Q969S9-2]
XP_016865475.1, XM_017009986.1 [Q969S9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000296805; ENSP00000296805; ENSG00000164347 [Q969S9-1]
ENST00000345239; ENSP00000296804; ENSG00000164347 [Q969S9-2]
ENST00000427854; ENSP00000405808; ENSG00000164347 [Q969S9-5]
ENST00000509430; ENSP00000427004; ENSG00000164347 [Q969S9-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
84340

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:84340

UCSC genome browser

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UCSCi
uc003kdh.2 human [Q969S9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AF367997 mRNA Translation: AAK53401.1
AY453587 mRNA Translation: AAS49035.1
AK025314 mRNA Translation: BAB15109.1
AF111808 mRNA Translation: AAL39010.1
CH471084 Genomic DNA Translation: EAW95744.1
BC015712 mRNA Translation: AAH15712.1
BC030612 mRNA Translation: AAH30612.1
CCDSiCCDS4023.1 [Q969S9-1]
CCDS4024.1 [Q969S9-2]
CCDS47232.1 [Q969S9-5]
RefSeqiNP_001268231.1, NM_001281302.1
NP_115756.2, NM_032380.4 [Q969S9-1]
NP_733781.1, NM_170681.2 [Q969S9-5]
NP_733792.1, NM_170691.2 [Q969S9-2]
XP_016865475.1, XM_017009986.1 [Q969S9-1]

3D structure databases

SMRiQ969S9
ModBaseiSearch...

Protein-protein interaction databases

BioGridi124062, 22 interactors
DIPiDIP-53437N
IntActiQ969S9, 19 interactors
MINTiQ969S9
STRINGi9606.ENSP00000296805

PTM databases

CarbonylDBiQ969S9
iPTMnetiQ969S9
PhosphoSitePlusiQ969S9

Polymorphism and mutation databases

BioMutaiGFM2
DMDMi28201798

Proteomic databases

EPDiQ969S9
jPOSTiQ969S9
MassIVEiQ969S9
MaxQBiQ969S9
PaxDbiQ969S9
PeptideAtlasiQ969S9
PRIDEiQ969S9
ProteomicsDBi75837 [Q969S9-1]
75838 [Q969S9-2]
75839 [Q969S9-3]
75840 [Q969S9-4]
75841 [Q969S9-5]

Genome annotation databases

EnsembliENST00000296805; ENSP00000296805; ENSG00000164347 [Q969S9-1]
ENST00000345239; ENSP00000296804; ENSG00000164347 [Q969S9-2]
ENST00000427854; ENSP00000405808; ENSG00000164347 [Q969S9-5]
ENST00000509430; ENSP00000427004; ENSG00000164347 [Q969S9-1]
GeneIDi84340
KEGGihsa:84340
UCSCiuc003kdh.2 human [Q969S9-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
84340
DisGeNETi84340

GeneCards: human genes, protein and diseases

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GeneCardsi
GFM2
HGNCiHGNC:29682 GFM2
HPAiHPA036863
MalaCardsiGFM2
MIMi606544 gene
618397 phenotype
neXtProtiNX_Q969S9
OpenTargetsiENSG00000164347
PharmGKBiPA134949527

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0465 Eukaryota
COG0480 LUCA
GeneTreeiENSGT00550000074890
HOGENOMiHOG000231585
InParanoidiQ969S9
KOiK02355
OMAiMDDMVGG
OrthoDBi637899at2759
PhylomeDBiQ969S9
TreeFamiTF314848

Enzyme and pathway databases

ReactomeiR-HSA-5419276 Mitochondrial translation termination

Miscellaneous databases

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

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ChiTaRSi
GFM2 human

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

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GenomeRNAii
84340
PharosiQ969S9

Protein Ontology

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PROi
PR:Q969S9

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000164347 Expressed in 207 organ(s), highest expression level in quadriceps femoris
ExpressionAtlasiQ969S9 baseline and differential
GenevisibleiQ969S9 HS

Family and domain databases

CDDicd16262 EFG_III, 1 hit
cd03713 EFG_mtEFG_C, 1 hit
Gene3Di3.30.230.10, 1 hit
HAMAPiMF_03059 mEF_G_2, 1 hit
InterProiView protein in InterPro
IPR030851 EFG2
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 TF_GTP-bd_dom
IPR009000 Transl_B-barrel_sf
IPR005517 Transl_elong_EFG/EF2_IV
PfamiView protein in Pfam
PF00679 EFG_C, 1 hit
PF14492 EFG_II, 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
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS00301 G_TR_1, 1 hit
PS51722 G_TR_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiRRF2M_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: Q969S9
Secondary accession number(s): A0AR28
, Q8N6D8, Q8WYI0, Q9H6Z1
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 2003
Last sequence update: December 1, 2001
Last modified: October 16, 2019
This is version 164 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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