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Protein

Elongation factor-like GTPase 1

Gene

EFL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Molecular functioni

  • GTPase activity Source: UniProtKB
  • GTP binding Source: UniProtKB-KW
  • ribosome binding Source: UniProtKB
  • translation elongation factor activity Source: UniProtKB-KW

GO - Biological processi

  • GTP metabolic process Source: UniProtKB
  • mature ribosome assembly Source: UniProtKB

Keywordsi

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

Enzyme and pathway databases

SIGNORiQ7Z2Z2

Names & Taxonomyi

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
Gene namesi
Name:EFL1Imported
Synonyms:EFTUD1, FAM42A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000140598.13
HGNCiHGNC:25789 EFL1
MIMi617538 gene
neXtProtiNX_Q7Z2Z2

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

Organism-specific databases

DisGeNETi79631
MalaCardsiEFL1
OpenTargetsiENSG00000140598
PharmGKBiPA134902221

Chemistry databases

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

Polymorphism and mutation databases

BioMutaiEFTUD1
DMDMi166232397

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003138051 – 1120Elongation factor-like GTPase 1Add BLAST1120

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei528N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ7Z2Z2
MaxQBiQ7Z2Z2
PaxDbiQ7Z2Z2
PeptideAtlasiQ7Z2Z2
PRIDEiQ7Z2Z2

PTM databases

iPTMnetiQ7Z2Z2
PhosphoSitePlusiQ7Z2Z2

Miscellaneous databases

PMAP-CutDBiQ7Z2Z2

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000140598
CleanExiHS_EFTUD1
ExpressionAtlasiQ7Z2Z2 baseline and differential
GenevisibleiQ7Z2Z2 HS

Organism-specific databases

HPAiHPA039654
HPA047110
HPA052345

Interactioni

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

BioGridi122761, 34 interactors
IntActiQ7Z2Z2, 11 interactors
STRINGi9606.ENSP00000268206

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5ANBelectron microscopy4.10K1-1120[»]
5ANCelectron microscopy4.20K1-1120[»]
ProteinModelPortaliQ7Z2Z2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini17 – 272tr-type GPROSITE-ProRule annotationAdd BLAST256

Sequence similaritiesi

Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG0467 Eukaryota
COG0480 LUCA
GeneTreeiENSGT00550000074806
HOGENOMiHOG000231586
HOVERGENiHBG101597
InParanoidiQ7Z2Z2
KOiK14536
OMAiADACVQV
OrthoDBiEOG091G0XPQ
PhylomeDBiQ7Z2Z2
TreeFamiTF105909

Family and domain databases

Gene3Di3.30.230.10, 1 hit
InterProiView protein in InterPro
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
PF00009 GTP_EFTU, 1 hit
PRINTSiPR00315 ELONGATNFCT
SMARTiView protein in SMART
SM00838 EFG_C, 1 hit
SUPFAMiSSF50447 SSF50447, 2 hits
SSF52540 SSF52540, 2 hits
SSF54211 SSF54211, 3 hits
SSF54980 SSF54980, 2 hits
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51722 G_TR_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7Z2Z2-1) [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
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
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

Sequence cautioni

The sequence BAB14450 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03015232 – 82Missing in isoform 2. 1 PublicationAdd BLAST51

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]
UniGeneiHs.459114

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiEFL1_HUMAN
AccessioniPrimary (citable) accession number: Q7Z2Z2
Secondary accession number(s): A6NKY5, B7Z6I0, Q9H8Z6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: May 23, 2018
This is version 133 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. SIMILARITY comments
    Index of protein domains and families
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