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Protein

116 kDa U5 small nuclear ribonucleoprotein component

Gene

EFTUD2

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

Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex required for pre-mRNA splicing. Binds GTP.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 bindingi136 – 143GTPSequence analysis8
Nucleotide bindingi204 – 208GTPSequence analysis5
Nucleotide bindingi258 – 261GTPSequence analysis4

<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

  • GTPase activity Source: GO_Central
  • GTP binding Source: UniProtKB-KW
  • RNA binding Source: UniProtKB
  • U5 snRNA binding Source: GO_Central

GO - Biological processi

  • cellular response to drug Source: Ensembl
  • mRNA processing Source: ProtInc
  • mRNA splicing, via spliceosome Source: GO_Central
  • response to cocaine Source: Ensembl
  • RNA splicing Source: ProtInc

<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 processmRNA processing, mRNA splicing
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway

<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:
116 kDa U5 small nuclear ribonucleoprotein component
Alternative name(s):
Elongation factor Tu GTP-binding domain-containing protein 2
SNU114 homolog
Short name:
hSNU114
U5 snRNP-specific protein, 116 kDa
Short name:
U5-116 kDa
<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:EFTUD2
Synonyms:KIAA0031, SNRP116
<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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000108883.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30858 EFTUD2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603892 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q15029

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus, Spliceosome

<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

Mandibulofacial dysostosis with microcephaly (MFDM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare syndrome characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate.
See also OMIM:610536
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_067580262R → W in MFDM. 1 PublicationCorresponds to variant dbSNP:rs387906877EnsemblClinVar.1
Natural variantiVAR_067581476C → R in MFDM. 1 Publication1
Natural variantiVAR_067582637L → R in MFDM. 1 PublicationCorresponds to variant dbSNP:rs387906879EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
9343

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
EFTUD2

MalaCards human disease database

More...
MalaCardsi
EFTUD2
MIMi610536 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000108883

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

More...
Orphaneti
79113 Mandibulofacial dysostosis-microcephaly syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671915

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EFTUD2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
18202501

<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_00000915631 – 972116 kDa U5 small nuclear ribonucleoprotein componentAdd BLAST972

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 residuei1N-acetylmethionineCombined sources1
Modified residuei19PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki64Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki64Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei86PhosphothreonineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q15029

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q15029

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q15029

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

More...
PaxDbi
Q15029

PeptideAtlas

More...
PeptideAtlasi
Q15029

PRoteomics IDEntifications database

More...
PRIDEi
Q15029

ProteomicsDB human proteome resource

More...
ProteomicsDBi
60379

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q15029

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

More...
PhosphoSitePlusi
Q15029

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q15029

<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
ENSG00000108883 Expressed in 196 organ(s), highest expression level in skeletal muscle tissue

CleanEx database of gene expression profiles

More...
CleanExi
HS_EFTUD2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q15029 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q15029 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA022021

<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

Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39. Identified in the spliceosome C complex. Interacts with ERBB4 and PRPF8. Interacts with PIH1D1 (PubMed:24656813).5 Publications

<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
114749, 191 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q15029

Protein interaction database and analysis system

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IntActi
Q15029, 58 interactors

Molecular INTeraction database

More...
MINTi
Q15029

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000392094

<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

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
3JCRelectron microscopy7.00B1-972[»]
5MQFelectron microscopy5.90B1-972[»]
5O9Zelectron microscopy4.50B1-972[»]
5XJCelectron microscopy3.60C1-972[»]
5YZGelectron microscopy4.10C1-972[»]
5Z56electron microscopy5.10C1-972[»]
5Z57electron microscopy6.50C1-972[»]
5Z58electron microscopy4.90C1-972[»]
6AH0electron microscopy5.70C1-972[»]
6AHDelectron microscopy3.80C1-972[»]
6FF4electron microscopy16.00B1-972[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q15029

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

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SMRi
Q15029

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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>Domaini127 – 409tr-type GPROSITE-ProRule annotationAdd BLAST283

<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
KOG0469 Eukaryota
COG0480 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155685

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231589

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG001838

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q15029

KEGG Orthology (KO)

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KOi
K12852

Identification of Orthologs from Complete Genome Data

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OMAi
GPDEMGP

Database of Orthologous Groups

More...
OrthoDBi
140796at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q15029

TreeFam database of animal gene trees

More...
TreeFami
TF105703

Family and domain databases

Conserved Domains Database

More...
CDDi
cd04098 eEF2_C_snRNP, 1 hit

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
IPR035647 EFG_III/V
IPR000640 EFG_V-like
IPR004161 EFTu-like_2
IPR031950 EFTUD2_N
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
IPR035655 U5-116kDa_C

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00679 EFG_C, 1 hit
PF03764 EFG_IV, 1 hit
PF16004 EFTUD2, 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

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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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)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 3 <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 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q15029-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDTDLYDEFG NYIGPELDSD EDDDELGRET KDLDEMDDDD DDDDVGDHDD
60 70 80 90 100
DHPGMEVVLH EDKKYYPTAE EVYGPEVETI VQEEDTQPLT EPIIKPVKTK
110 120 130 140 150
KFTLMEQTLP VTVYEMDFLA DLMDNSELIR NVTLCGHLHH GKTCFVDCLI
160 170 180 190 200
EQTHPEIRKR YDQDLCYTDI LFTEQERGVG IKSTPVTVVL PDTKGKSYLF
210 220 230 240 250
NIMDTPGHVN FSDEVTAGLR ISDGVVLFID AAEGVMLNTE RLIKHAVQER
260 270 280 290 300
LAVTVCINKI DRLILELKLP PTDAYYKLRH IVDEVNGLIS MYSTDENLIL
310 320 330 340 350
SPLLGNVCFS SSQYSICFTL GSFAKIYADT FGDINYQEFA KRLWGDIYFN
360 370 380 390 400
PKTRKFTKKA PTSSSQRSFV EFILEPLYKI LAQVVGDVDT SLPRTLDELG
410 420 430 440 450
IHLTKEELKL NIRPLLRLVC KKFFGEFTGF VDMCVQHIPS PKVGAKPKIE
460 470 480 490 500
HTYTGGVDSD LGEAMSDCDP DGPLMCHTTK MYSTDDGVQF HAFGRVLSGT
510 520 530 540 550
IHAGQPVKVL GENYTLEDEE DSQICTVGRL WISVARYHIE VNRVPAGNWV
560 570 580 590 600
LIEGVDQPIV KTATITEPRG NEEAQIFRPL KFNTTSVIKI AVEPVNPSEL
610 620 630 640 650
PKMLDGLRKV NKSYPSLTTK VEESGEHVIL GTGELYLDCV MHDLRKMYSE
660 670 680 690 700
IDIKVADPVV TFCETVVETS SLKCFAETPN KKNKITMIAE PLEKGLAEDI
710 720 730 740 750
ENEVVQITWN RKKLGEFFQT KYDWDLLAAR SIWAFGPDAT GPNILVDDTL
760 770 780 790 800
PSEVDKALLG SVKDSIVQGF QWGTREGPLC DELIRNVKFK ILDAVVAQEP
810 820 830 840 850
LHRGGGQIIP TARRVVYSAF LMATPRLMEP YYFVEVQAPA DCVSAVYTVL
860 870 880 890 900
ARRRGHVTQD APIPGSPLYT IKAFIPAIDS FGFETDLRTH TQGQAFSLSV
910 920 930 940 950
FHHWQIVPGD PLDKSIVIRP LEPQPAPHLA REFMIKTRRR KGLSEDVSIS
960 970
KFFDDPMLLE LAKQDVVLNY PM
Length:972
Mass (Da):109,436
Last modified:November 1, 1996 - 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:i862BD6CA7993F118
GO
Isoform 2 (identifier: Q15029-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: Missing.

Show »
Length:937
Mass (Da):105,384
Checksum:iC754AB346695B0C3
GO
Isoform 3 (identifier: Q15029-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     143-152: Missing.

Note: No experimental confirmation available.
Show »
Length:962
Mass (Da):108,283
Checksum:i6EF1ECDE3BDA0784
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EJ74K7EJ74_HUMAN
116 kDa U5 small nuclear ribonucleo...
EFTUD2
134Annotation 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>
K7EP67K7EP67_HUMAN
116 kDa U5 small nuclear ribonucleo...
EFTUD2
223Annotation 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>
K7EIT3K7EIT3_HUMAN
116 kDa U5 small nuclear ribonucleo...
EFTUD2
148Annotation 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>
K7EIV5K7EIV5_HUMAN
116 kDa U5 small nuclear ribonucleo...
EFTUD2
106Annotation 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>
K7EQ26K7EQ26_HUMAN
116 kDa U5 small nuclear ribonucleo...
EFTUD2
33Annotation 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>
K7ERJ5K7ERJ5_HUMAN
116 kDa U5 small nuclear ribonucleo...
EFTUD2
38Annotation 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 BAA04699 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.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 conflicti321G → V in AAH02360 (PubMed:15489334).Curated1
Sequence conflicti619T → S in BAG59832 (PubMed:14702039).Curated1
Sequence conflicti955D → G in BAG59832 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067580262R → W in MFDM. 1 PublicationCorresponds to variant dbSNP:rs387906877EnsemblClinVar.1
Natural variantiVAR_067581476C → R in MFDM. 1 Publication1
Natural variantiVAR_067582637L → R in MFDM. 1 PublicationCorresponds to variant dbSNP:rs387906879EnsemblClinVar.1
Natural variantiVAR_014931773G → V. Corresponds to variant dbSNP:rs1056505Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0442821 – 35Missing in isoform 2. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_055175143 – 152Missing in isoform 3. 1 Publication10

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
D21163 mRNA Translation: BAA04699.2 Different initiation.
AK296367 mRNA Translation: BAG59042.1
AK297392 mRNA Translation: BAG59832.1
AK316098 mRNA Translation: BAH14469.1
AC015936 Genomic DNA No translation available.
CH471178 Genomic DNA Translation: EAW51573.1
CH471178 Genomic DNA Translation: EAW51574.1
BC002360 mRNA Translation: AAH02360.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11489.1 [Q15029-1]
CCDS45707.1 [Q15029-2]
CCDS59295.1 [Q15029-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001136077.1, NM_001142605.1 [Q15029-2]
NP_001245282.1, NM_001258353.1 [Q15029-1]
NP_001245283.1, NM_001258354.1 [Q15029-3]
NP_004238.3, NM_004247.3 [Q15029-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.151787

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000402521; ENSP00000385873; ENSG00000108883 [Q15029-2]
ENST00000426333; ENSP00000392094; ENSG00000108883 [Q15029-1]
ENST00000591382; ENSP00000467805; ENSG00000108883 [Q15029-1]
ENST00000592576; ENSP00000465058; ENSG00000108883 [Q15029-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9343

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9343

UCSC genome browser

More...
UCSCi
uc002ihn.3 human [Q15029-1]

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
D21163 mRNA Translation: BAA04699.2 Different initiation.
AK296367 mRNA Translation: BAG59042.1
AK297392 mRNA Translation: BAG59832.1
AK316098 mRNA Translation: BAH14469.1
AC015936 Genomic DNA No translation available.
CH471178 Genomic DNA Translation: EAW51573.1
CH471178 Genomic DNA Translation: EAW51574.1
BC002360 mRNA Translation: AAH02360.1
CCDSiCCDS11489.1 [Q15029-1]
CCDS45707.1 [Q15029-2]
CCDS59295.1 [Q15029-3]
RefSeqiNP_001136077.1, NM_001142605.1 [Q15029-2]
NP_001245282.1, NM_001258353.1 [Q15029-1]
NP_001245283.1, NM_001258354.1 [Q15029-3]
NP_004238.3, NM_004247.3 [Q15029-1]
UniGeneiHs.151787

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3JCRelectron microscopy7.00B1-972[»]
5MQFelectron microscopy5.90B1-972[»]
5O9Zelectron microscopy4.50B1-972[»]
5XJCelectron microscopy3.60C1-972[»]
5YZGelectron microscopy4.10C1-972[»]
5Z56electron microscopy5.10C1-972[»]
5Z57electron microscopy6.50C1-972[»]
5Z58electron microscopy4.90C1-972[»]
6AH0electron microscopy5.70C1-972[»]
6AHDelectron microscopy3.80C1-972[»]
6FF4electron microscopy16.00B1-972[»]
ProteinModelPortaliQ15029
SMRiQ15029
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114749, 191 interactors
CORUMiQ15029
IntActiQ15029, 58 interactors
MINTiQ15029
STRINGi9606.ENSP00000392094

PTM databases

iPTMnetiQ15029
PhosphoSitePlusiQ15029
SwissPalmiQ15029

Polymorphism and mutation databases

BioMutaiEFTUD2
DMDMi18202501

Proteomic databases

EPDiQ15029
jPOSTiQ15029
MaxQBiQ15029
PaxDbiQ15029
PeptideAtlasiQ15029
PRIDEiQ15029
ProteomicsDBi60379

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
9343
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000402521; ENSP00000385873; ENSG00000108883 [Q15029-2]
ENST00000426333; ENSP00000392094; ENSG00000108883 [Q15029-1]
ENST00000591382; ENSP00000467805; ENSG00000108883 [Q15029-1]
ENST00000592576; ENSP00000465058; ENSG00000108883 [Q15029-3]
GeneIDi9343
KEGGihsa:9343
UCSCiuc002ihn.3 human [Q15029-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9343
DisGeNETi9343
EuPathDBiHostDB:ENSG00000108883.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EFTUD2
GeneReviewsiEFTUD2

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0135614
HGNCiHGNC:30858 EFTUD2
HPAiHPA022021
MalaCardsiEFTUD2
MIMi603892 gene
610536 phenotype
neXtProtiNX_Q15029
OpenTargetsiENSG00000108883
Orphaneti79113 Mandibulofacial dysostosis-microcephaly syndrome
PharmGKBiPA142671915

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0469 Eukaryota
COG0480 LUCA
GeneTreeiENSGT00940000155685
HOGENOMiHOG000231589
HOVERGENiHBG001838
InParanoidiQ15029
KOiK12852
OMAiGPDEMGP
OrthoDBi140796at2759
PhylomeDBiQ15029
TreeFamiTF105703

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway

Miscellaneous databases

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

More...
ChiTaRSi
EFTUD2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
EFTUD2

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

More...
GenomeRNAii
9343

Protein Ontology

More...
PROi
PR:Q15029

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000108883 Expressed in 196 organ(s), highest expression level in skeletal muscle tissue
CleanExiHS_EFTUD2
ExpressionAtlasiQ15029 baseline and differential
GenevisibleiQ15029 HS

Family and domain databases

CDDicd04098 eEF2_C_snRNP, 1 hit
Gene3Di3.30.230.10, 1 hit
InterProiView protein in InterPro
IPR035647 EFG_III/V
IPR000640 EFG_V-like
IPR004161 EFTu-like_2
IPR031950 EFTUD2_N
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
IPR035655 U5-116kDa_C
PfamiView protein in Pfam
PF00679 EFG_C, 1 hit
PF03764 EFG_IV, 1 hit
PF16004 EFTUD2, 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
PS51722 G_TR_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiU5S1_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: Q15029
Secondary accession number(s): B4DK30
, B4DMC0, D3DX58, K7EJ81, Q9BUR0
<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: September 26, 2001
Last sequence update: November 1, 1996
Last modified: January 16, 2019
This is version 212 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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