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Entry version 141 (31 Jul 2019)
Sequence version 2 (15 Jan 2008)
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Protein

Elongation factor-like GTPase 1

Gene

EFL1

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

Involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Together with SBDS, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Has low intrinsic GTPase activity. GTPase activity is increased by contact with 60S ribosome subunits.1 Publication

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 bindingi26 – 33GTPBy similarity8
Nucleotide bindingi92 – 96GTPBy similarity5
Nucleotide bindingi146 – 149GTPBy similarity4

<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

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

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q7Z2Z2

<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:
Elongation factor-like GTPase 1
Alternative name(s):
Elongation factor Tu GTP-binding domain-containing protein 1
Elongation factor-like 1
Protein FAM42A
<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:EFL1Imported
Synonyms:EFTUD1, FAM42A
<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 15

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25789 EFL1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
617538 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q7Z2Z2

<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

<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

Shwachman-Diamond syndrome 2 (SDS2)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Shwachman-Diamond syndrome, a disorder characterized by hematopoietic abnormalities, exocrine pancreatic dysfunction, and skeletal dysplasia. Intermittent or chronic neutropenia is the most common hematological manifestation, followed by anemia and thrombocytopenia. Some patients progress to bone marrow failure, myelodysplastic syndrome and malignant transformation, with acute myelogenous leukemia being the most common. Exocrine pancreatic dysfunction is generally the first presenting symptom in infancy. Short stature and metaphyseal dysplasia are the most frequent skeletal manifestations. SDS2 inheritance is autosomal recessive.
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_080513882M → K in SDS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1316615934EnsemblClinVar.1
Natural variantiVAR_0805141095R → Q in SDS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs376095522EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi33T → A: Loss of GTPase activity. Abolishes dissociation of EIF6 from 60S pre-ribosome subunits. 1 Publication1
Mutagenesisi96H → A: Loss of GTPase activity. Abolishes dissociation of EIF6 from 60S pre-ribosome subunits. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
79631

MalaCards human disease database

More...
MalaCardsi
EFL1
MIMi617941 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000140598

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

More...
Orphaneti
811 Shwachman-Diamond syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134902221

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB03619 Deoxycholic Acid
DB04315 Guanosine-5'-Diphosphate
DB02750 S-(Methylmercury)-L-Cysteine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EFL1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
166232397

<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_00003138051 – 1120Elongation factor-like GTPase 1Add BLAST1120

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 residuei528N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q7Z2Z2

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q7Z2Z2

MaxQB - The MaxQuant DataBase

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MaxQBi
Q7Z2Z2

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

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PaxDbi
Q7Z2Z2

PeptideAtlas

More...
PeptideAtlasi
Q7Z2Z2

PRoteomics IDEntifications database

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PRIDEi
Q7Z2Z2

ProteomicsDB human proteome resource

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ProteomicsDBi
68991 [Q7Z2Z2-1]
68992 [Q7Z2Z2-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q7Z2Z2

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

More...
PhosphoSitePlusi
Q7Z2Z2

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
Q7Z2Z2

<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

Expressed at low levels in brain. Expression is highly increased in glioma tissues.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000140598 Expressed in 184 organ(s), highest expression level in intestine

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q7Z2Z2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q7Z2Z2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039654
HPA047110
HPA052345

<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">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Associates with the 60S ribosomal subunit (PubMed:21536732).

Found in a complex consisting of the 60S ribosomal subunit, SBDS and EFL1 (PubMed:22814378).

Interacts with SBDS and binds to GTP and GDP; the interaction with SBDS decreases EFL1 affinity for GDP and facilitates GDP release (PubMed:25991726).

2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122761, 34 interactors

Protein interaction database and analysis system

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IntActi
Q7Z2Z2, 12 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000268206

<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

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SMRi
Q7Z2Z2

Database of comparative protein structure models

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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>Domaini17 – 272tr-type GPROSITE-ProRule annotationAdd BLAST256

<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.PROSITE-ProRule annotation

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0467 Eukaryota
COG0480 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00550000074806

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231586

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q7Z2Z2

KEGG Orthology (KO)

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KOi
K14536

Identification of Orthologs from Complete Genome Data

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OMAi
CVHDLEQ

Database of Orthologous Groups

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OrthoDBi
140796at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q7Z2Z2

TreeFam database of animal gene trees

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TreeFami
TF105909

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.230.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR041095 EFG_II
IPR035647 EFG_III/V
IPR000640 EFG_V-like
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

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00679 EFG_C, 1 hit
PF14492 EFG_II, 1 hit
PF00009 GTP_EFTU, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00315 ELONGATNFCT

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00838 EFG_C, 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

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TIGRFAMsi
TIGR00231 small_GTP, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
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 (2+)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 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 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7Z2Z2-1) [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
MVLNSLDKMI QLQKNTANIR NICVLAHVDH GKTTLADCLI SSNGIISSRL
60 70 80 90 100
AGKLRYMDSR EDEQIRGITM KSSAISLHYA TGNEEYLINL IDSPGHVDFS
110 120 130 140 150
SEVSTAVRIC DGCIIVVDAV EGVCPQTQAV LRQAWLENIR PVLVINKIDR
160 170 180 190 200
LIVELKFTPQ EAYSHLKNIL EQINALTGTL FTSKVLEERA ERETESQVNP
210 220 230 240 250
NSEQGEQVYD WSTGLEDTDD SHLYFSPEQG NVVFTSAIDG WGFGIEHFAR
260 270 280 290 300
IYSQKIGIKK EVLMKTLWGD YYINMKAKKI MKGDQAKGKK PLFVQLILEN
310 320 330 340 350
IWSLYDAVLK KDKDKIDKIV TSLGLKIGAR EARHSDPKVQ INAICSQWLP
360 370 380 390 400
ISHAVLAMVC QKLPSPLDIT AERVERLMCT GSQTFDSFPP ETQALKAAFM
410 420 430 440 450
KCGSEDTAPV IIFVSKMFAV DAKALPQNKP RPLTQEEIAQ RRERARQRHA
460 470 480 490 500
EKLAAAQGQA PLEPTQDGSA IETCPKGEEP RGDEQQVESM TPKPVLQEEN
510 520 530 540 550
NQESFIAFAR VFSGVARRGK KIFVLGPKYS PLEFLRRVPL GFSAPPDGLP
560 570 580 590 600
QVPHMAYCAL ENLYLLMGRE LEYLEEVPPG NVLGIGGLQD FVLKSATLCS
610 620 630 640 650
LPSCPPFIPL NFEATPIVRV AVEPKHPSEM PQLVKGMKLL NQADPCVQIL
660 670 680 690 700
IQETGEHVLV TAGEVHLQRC LDDLKERFAK IHISVSEPII PFRETITKPP
710 720 730 740 750
KVDMVNEEIG KQQKVAVIHQ MKEDQSKIPE GIQVDSDGLI TITTPNKLAT
760 770 780 790 800
LSVRAMPLPE EVTQILEENS DLIRSMEQLT SSLNEGENTH MIHQKTQEKI
810 820 830 840 850
WEFKGKLEQH LTGRRWRNIV DQIWSFGPRK CGPNILVNKS EDFQNSVWTG
860 870 880 890 900
PADKASKEAS RYRDLGNSIV SGFQLATLSG PMCEEPLMGV CFVLEKWDLS
910 920 930 940 950
KFEEQGASDL AKEGQEENET CSGGNENQEL QDGCSEAFEK RTSQKGESPL
960 970 980 990 1000
TDCYGPFSGQ LIATMKEACR YALQVKPQRL MAAMYTCDIM ATGDVLGRVY
1010 1020 1030 1040 1050
AVLSKREGRV LQEEMKEGTD MFIIKAVLPV AESFGFADEI RKRTSGLASP
1060 1070 1080 1090 1100
QLVFSHWEII PSDPFWVPTT EEEYLHFGEK ADSENQARKY MNAVRKRKGL
1110 1120
YVEEKIVEHA EKQRTLSKNK
Length:1,120
Mass (Da):125,430
Last modified:January 15, 2008 - 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:iCCD765953015F109
GO
Isoform 2 (identifier: Q7Z2Z2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     32-82: Missing.

Show »
Length:1,069
Mass (Da):119,887
Checksum:i2E9AFF5FA9B27625
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YKI9H0YKI9_HUMAN
Elongation factor-like GTPase 1
EFL1
139Annotation 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>
H0YK75H0YK75_HUMAN
Elongation factor-like GTPase 1
EFL1
58Annotation 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>
A0A3B3ITU1A0A3B3ITU1_HUMAN
Elongation factor-like GTPase 1
EFL1
366Annotation 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>
H0YNW8H0YNW8_HUMAN
Elongation factor-like GTPase 1
EFL1
30Annotation 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>
H0YKY7H0YKY7_HUMAN
Elongation factor-like GTPase 1
EFL1
16Annotation 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 BAB14450 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 conflicti456A → V in CAD98101 (PubMed:17974005).Curated1
Sequence conflicti632Q → R in BAB14450 (PubMed:14702039).Curated1
Sequence conflicti696I → T in CAD98101 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037746478E → D2 PublicationsCorresponds to variant dbSNP:rs2292189Ensembl.1
Natural variantiVAR_037747617I → V. Corresponds to variant dbSNP:rs1128431Ensembl.1
Natural variantiVAR_037748711K → R. Corresponds to variant dbSNP:rs2292071Ensembl.1
Natural variantiVAR_080513882M → K in SDS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1316615934EnsemblClinVar.1
Natural variantiVAR_0805141095R → Q in SDS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs376095522EnsemblClinVar.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_03015232 – 82Missing in isoform 2. 1 PublicationAdd BLAST51

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
AK023181 mRNA Translation: BAB14450.1 Different initiation.
AK300348 mRNA Translation: BAH13266.1
BX538332 mRNA Translation: CAD98101.1
AC026624 Genomic DNA No translation available.
AC026956 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS42070.1 [Q7Z2Z2-2]
CCDS42071.1 [Q7Z2Z2-1]

NCBI Reference Sequences

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RefSeqi
NP_001035700.1, NM_001040610.2 [Q7Z2Z2-2]
NP_001309774.1, NM_001322845.1 [Q7Z2Z2-1]
NP_078856.4, NM_024580.5 [Q7Z2Z2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000268206; ENSP00000268206; ENSG00000140598 [Q7Z2Z2-1]
ENST00000359445; ENSP00000352418; ENSG00000140598 [Q7Z2Z2-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
79631

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79631

UCSC genome browser

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UCSCi
uc002bgt.2 human [Q7Z2Z2-1]

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
AK023181 mRNA Translation: BAB14450.1 Different initiation.
AK300348 mRNA Translation: BAH13266.1
BX538332 mRNA Translation: CAD98101.1
AC026624 Genomic DNA No translation available.
AC026956 Genomic DNA No translation available.
CCDSiCCDS42070.1 [Q7Z2Z2-2]
CCDS42071.1 [Q7Z2Z2-1]
RefSeqiNP_001035700.1, NM_001040610.2 [Q7Z2Z2-2]
NP_001309774.1, NM_001322845.1 [Q7Z2Z2-1]
NP_078856.4, NM_024580.5 [Q7Z2Z2-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5ANBelectron microscopy4.10K1-1120[»]
5ANCelectron microscopy4.20K1-1120[»]
SMRiQ7Z2Z2
ModBaseiSearch...

Protein-protein interaction databases

BioGridi122761, 34 interactors
IntActiQ7Z2Z2, 12 interactors
STRINGi9606.ENSP00000268206

Chemistry databases

DrugBankiDB03619 Deoxycholic Acid
DB04315 Guanosine-5'-Diphosphate
DB02750 S-(Methylmercury)-L-Cysteine

PTM databases

iPTMnetiQ7Z2Z2
PhosphoSitePlusiQ7Z2Z2

Polymorphism and mutation databases

BioMutaiEFL1
DMDMi166232397

Proteomic databases

EPDiQ7Z2Z2
jPOSTiQ7Z2Z2
MaxQBiQ7Z2Z2
PaxDbiQ7Z2Z2
PeptideAtlasiQ7Z2Z2
PRIDEiQ7Z2Z2
ProteomicsDBi68991 [Q7Z2Z2-1]
68992 [Q7Z2Z2-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
79631
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268206; ENSP00000268206; ENSG00000140598 [Q7Z2Z2-1]
ENST00000359445; ENSP00000352418; ENSG00000140598 [Q7Z2Z2-2]
GeneIDi79631
KEGGihsa:79631
UCSCiuc002bgt.2 human [Q7Z2Z2-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
79631
DisGeNETi79631

GeneCards: human genes, protein and diseases

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GeneCardsi
EFL1
HGNCiHGNC:25789 EFL1
HPAiHPA039654
HPA047110
HPA052345
MalaCardsiEFL1
MIMi617538 gene
617941 phenotype
neXtProtiNX_Q7Z2Z2
OpenTargetsiENSG00000140598
Orphaneti811 Shwachman-Diamond syndrome
PharmGKBiPA134902221

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0467 Eukaryota
COG0480 LUCA
GeneTreeiENSGT00550000074806
HOGENOMiHOG000231586
InParanoidiQ7Z2Z2
KOiK14536
OMAiCVHDLEQ
OrthoDBi140796at2759
PhylomeDBiQ7Z2Z2
TreeFamiTF105909

Enzyme and pathway databases

SIGNORiQ7Z2Z2

Miscellaneous databases

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

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ChiTaRSi
EFL1 human

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

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GenomeRNAii
79631
PMAP-CutDBiQ7Z2Z2

Protein Ontology

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PROi
PR:Q7Z2Z2

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000140598 Expressed in 184 organ(s), highest expression level in intestine
ExpressionAtlasiQ7Z2Z2 baseline and differential
GenevisibleiQ7Z2Z2 HS

Family and domain databases

Gene3Di3.30.230.10, 1 hit
InterProiView protein in InterPro
IPR041095 EFG_II
IPR035647 EFG_III/V
IPR000640 EFG_V-like
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
PfamiView protein in Pfam
PF00679 EFG_C, 1 hit
PF14492 EFG_II, 1 hit
PF00009 GTP_EFTU, 1 hit
PRINTSiPR00315 ELONGATNFCT
SMARTiView protein in SMART
SM00838 EFG_C, 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
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 nameiEFL1_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: Q7Z2Z2
Secondary accession number(s): A6NKY5, B7Z6I0, Q9H8Z6
<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: January 15, 2008
Last sequence update: January 15, 2008
Last modified: July 31, 2019
This is version 141 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, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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