UniProtKB - Q9H9T3 (ELP3_HUMAN)
Elongator complex protein 3
ELP3
Functioni
Caution
Catalytic activityi
- acetyl-CoA + H2O + S-adenosyl-L-methionine + uridine34 in tRNA = 5'-deoxyadenosine + carboxymethyluridine34 in tRNA + CoA + 2 H+ + L-methionineBy similarityThis reaction proceeds in the forwardBy similarity direction.
- This reaction proceeds in the forward1 Publication direction.
Cofactori
: 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis Pathwayi
This protein is involved in the pathway 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis, which is part of tRNA modification.1 PublicationView all proteins of this organism that are known to be involved in the pathway 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis and in tRNA modification.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 99 | Iron-sulfur (4Fe-4S-S-AdoMet)By similarity | 1 | |
Metal bindingi | 109 | Iron-sulfur (4Fe-4S-S-AdoMet)By similarity | 1 | |
Metal bindingi | 112 | Iron-sulfur (4Fe-4S-S-AdoMet)By similarity | 1 | |
Binding sitei | 164 | Acetyl-CoABy similarity | 1 | |
Binding sitei | 530 | Acetyl-CoABy similarity | 1 |
GO - Molecular functioni
- 4 iron, 4 sulfur cluster binding Source: UniProtKB-KW
- acetyltransferase activity Source: BHF-UCL
- metal ion binding Source: UniProtKB-KW
- N-acetyltransferase activity Source: InterPro
- phosphorylase kinase regulator activity Source: UniProtKB
- tRNA binding Source: UniProtKB-KW
- tRNA uridine(34) acetyltransferase activity Source: UniProtKB
GO - Biological processi
- central nervous system development Source: UniProtKB
- neuron migration Source: UniProtKB
- positive regulation of cell migration Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: UniProtKB
- tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation Source: GO_Central
- tRNA wobble uridine modification Source: UniProtKB
Keywordsi
Molecular function | Acyltransferase, RNA-binding, Transferase, tRNA-binding |
Biological process | Neurogenesis, Transcription, Transcription regulation, tRNA processing |
Ligand | 4Fe-4S, Iron, Iron-sulfur, Metal-binding, S-adenosyl-L-methionine |
Enzyme and pathway databases
PathwayCommonsi | Q9H9T3 |
Reactomei | R-HSA-3214847, HATs acetylate histones |
UniPathwayi | UPA00988 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000134014.16 |
HGNCi | HGNC:20696, ELP3 |
MIMi | 612722, gene |
neXtProti | NX_Q9H9T3 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Cytosol
- cytosol Source: HPA
Nucleus
Other locations
- cytoplasm Source: UniProtKB
- Elongator holoenzyme complex Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Amyotrophic lateral sclerosis (ALS)1 Publication1 Publication
Keywords - Diseasei
Amyotrophic lateral sclerosis, NeurodegenerationOrganism-specific databases
DisGeNETi | 55140 |
MIMi | 105400, phenotype |
OpenTargetsi | ENSG00000134014 |
PharmGKBi | PA134992603 |
Miscellaneous databases
Pharosi | Q9H9T3, Tbio |
Polymorphism and mutation databases
BioMutai | ELP3 |
DMDMi | 145558902 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000283986 | 1 – 547 | Elongator complex protein 3Add BLAST | 547 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 161 | PhosphoserineBy similarity | 1 | |
Modified residuei | 202 | PhosphotyrosineCombined sources | 1 | |
Modified residuei | 229 | N6-methyllysineCombined sources | 1 |
Keywords - PTMi
Methylation, PhosphoproteinProteomic databases
EPDi | Q9H9T3 |
jPOSTi | Q9H9T3 |
MassIVEi | Q9H9T3 |
MaxQBi | Q9H9T3 |
PaxDbi | Q9H9T3 |
PeptideAtlasi | Q9H9T3 |
PRIDEi | Q9H9T3 |
ProteomicsDBi | 3914 4303 81361 [Q9H9T3-1] 81362 [Q9H9T3-2] |
PTM databases
CarbonylDBi | Q9H9T3 |
iPTMneti | Q9H9T3 |
PhosphoSitePlusi | Q9H9T3 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000134014, Expressed in amniotic fluid and 235 other tissues |
ExpressionAtlasi | Q9H9T3, baseline and differential |
Genevisiblei | Q9H9T3, HS |
Organism-specific databases
HPAi | ENSG00000134014, Low tissue specificity |
Interactioni
Subunit structurei
Component of the RNA polymerase II elongator complex (Elongator), which consists of ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6. ELP1, STIP1/ELP2 and ELP3 form the Elongator core complex (PubMed:11714725, PubMed:11818576, PubMed:22854966). Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit (PubMed:11714725, PubMed:11818576, PubMed:22854966).
Interacts with ELP1 (PubMed:11818576, PubMed:19185337).
Interacts with alpha-tubulin (PubMed:19185337).
4 PublicationsBinary interactionsi
Q9H9T3
With | #Exp. | IntAct |
---|---|---|
ELP1 [O95163] | 8 | EBI-355217,EBI-347559 |
Protein-protein interaction databases
BioGRIDi | 120444, 79 interactors |
ComplexPortali | CPX-1949, Elongator holoenzyme complex |
CORUMi | Q9H9T3 |
DIPi | DIP-53227N |
IntActi | Q9H9T3, 30 interactors |
MINTi | Q9H9T3 |
STRINGi | 9606.ENSP00000256398 |
Miscellaneous databases
RNActi | Q9H9T3, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 82 – 372 | Radical SAM corePROSITE-ProRule annotationAdd BLAST | 291 | |
Domaini | 396 – 547 | N-acetyltransferasePROSITE-ProRule annotationAdd BLAST | 152 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 474 – 477 | Acetyl-CoA bindingBy similarity | 4 | |
Regioni | 497 – 499 | Acetyl-CoA bindingBy similarity | 3 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG2535, Eukaryota |
GeneTreei | ENSGT00390000013141 |
InParanoidi | Q9H9T3 |
OMAi | TFETRPD |
OrthoDBi | 320059at2759 |
PhylomeDBi | Q9H9T3 |
TreeFami | TF105752 |
Family and domain databases
Gene3Di | 3.80.30.20, 1 hit |
InterProi | View protein in InterPro IPR016181, Acyl_CoA_acyltransferase IPR039661, ELP3 IPR034687, ELP3-like IPR006638, Elp3/MiaB/NifB IPR000182, GNAT_dom IPR032432, Radical_SAM_C IPR007197, rSAM IPR023404, rSAM_horseshoe |
PANTHERi | PTHR11135, PTHR11135, 1 hit PTHR11135:SF0, PTHR11135:SF0, 1 hit |
Pfami | View protein in Pfam PF00583, Acetyltransf_1, 1 hit PF04055, Radical_SAM, 1 hit PF16199, Radical_SAM_C, 1 hit |
PIRSFi | PIRSF005669, Hist_AcTrfase_ELP3, 1 hit |
SFLDi | SFLDF00344, ELP3-like, 1 hit SFLDS00029, Radical_SAM, 1 hit |
SMARTi | View protein in SMART SM00729, Elp3, 1 hit |
SUPFAMi | SSF55729, SSF55729, 1 hit |
TIGRFAMsi | TIGR01211, ELP3, 1 hit |
PROSITEi | View protein in PROSITE PS51186, GNAT, 1 hit PS51918, RADICAL_SAM, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MRQKRKGDLS PAELMMLTIG DVIKQLIEAH EQGKDIDLNK VKTKTAAKYG
60 70 80 90 100
LSAQPRLVDI IAAVPPQYRK VLMPKLKAKP IRTASGIAVV AVMCKPHRCP
110 120 130 140 150
HISFTGNICV YCPGGPDSDF EYSTQSYTGY EPTSMRAIRA RYDPFLQTRH
160 170 180 190 200
RIEQLKQLGH SVDKVEFIVM GGTFMALPEE YRDYFIRNLH DALSGHTSNN
210 220 230 240 250
IYEAVKYSER SLTKCIGITI ETRPDYCMKR HLSDMLTYGC TRLEIGVQSV
260 270 280 290 300
YEDVARDTNR GHTVKAVCES FHLAKDSGFK VVAHMMPDLP NVGLERDIEQ
310 320 330 340 350
FTEFFENPAF RPDGLKLYPT LVIRGTGLYE LWKSGRYKSY SPSDLVELVA
360 370 380 390 400
RILALVPPWT RVYRVQRDIP MPLVSSGVEH GNLRELALAR MKDLGIQCRD
410 420 430 440 450
VRTREVGIQE IHHKVRPYQV ELVRRDYVAN GGWETFLSYE DPDQDILIGL
460 470 480 490 500
LRLRKCSEET FRFELGGGVS IVRELHVYGS VVPVSSRDPT KFQHQGFGML
510 520 530 540
LMEEAERIAR EEHGSGKIAV ISGVGTRNYY RKIGYRLQGP YMVKMLK
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB4DKA4 | B4DKA4_HUMAN | Elongator complex protein 3 | ELP3 | 475 | Annotation score: | ||
H0YAP7 | H0YAP7_HUMAN | Elongator complex protein 3 | ELP3 | 140 | Annotation score: | ||
H0YC54 | H0YC54_HUMAN | Elongator complex protein 3 | ELP3 | 66 | Annotation score: | ||
E5RHR2 | E5RHR2_HUMAN | Elongator complex protein 3 | ELP3 | 191 | Annotation score: | ||
E5RHY2 | E5RHY2_HUMAN | Elongator complex protein 3 | ELP3 | 106 | Annotation score: | ||
E5RIZ7 | E5RIZ7_HUMAN | Elongator complex protein 3 | ELP3 | 134 | Annotation score: | ||
E5RIC0 | E5RIC0_HUMAN | Elongator complex protein 3 | ELP3 | 113 | Annotation score: | ||
E5RIU1 | E5RIU1_HUMAN | Elongator complex protein 3 | ELP3 | 41 | Annotation score: | ||
E5RG26 | E5RG26_HUMAN | Elongator complex protein 3 | ELP3 | 45 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 10 | S → G in BAA91600 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 30 | H → Y in BAD96767 (Ref. 5) Curated | 1 | |
Sequence conflicti | 179 | E → K in CAH10573 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 265 | K → M in BAB14138 (PubMed:14702039).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055284 | 1 – 92 | Missing in isoform 4. 1 PublicationAdd BLAST | 92 | |
Alternative sequenceiVSP_024406 | 1 – 14 | Missing in isoform 2. 1 PublicationAdd BLAST | 14 | |
Alternative sequenceiVSP_055285 | 1 – 12 | MRQKR…DLSPA → MSTHQFYRKYMC in isoform 3. 1 PublicationAdd BLAST | 12 | |
Alternative sequenceiVSP_055286 | 13 – 131 | Missing in isoform 3. 1 PublicationAdd BLAST | 119 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK001284 mRNA Translation: BAA91600.1 Sequence problems. AK022626 mRNA Translation: BAB14138.1 AK293424 mRNA Translation: BAG56930.1 AK295574 mRNA Translation: BAG58473.1 AK315985 mRNA Translation: BAH14356.1 AL834273 mRNA Translation: CAD38948.1 BX648011 mRNA Translation: CAH10573.1 Frameshift. AC019031 Genomic DNA No translation available. AC021678 Genomic DNA No translation available. BC001240 mRNA Translation: AAH01240.1 AK223047 mRNA Translation: BAD96767.1 |
CCDSi | CCDS6065.1 [Q9H9T3-1] CCDS64860.1 [Q9H9T3-5] CCDS64861.1 [Q9H9T3-4] CCDS75717.1 [Q9H9T3-2] |
RefSeqi | NP_001271151.1, NM_001284222.1 [Q9H9T3-2] NP_001271153.1, NM_001284224.1 [Q9H9T3-4] NP_001271154.1, NM_001284225.1 [Q9H9T3-4] NP_001271155.1, NM_001284226.1 [Q9H9T3-5] NP_060561.3, NM_018091.5 [Q9H9T3-1] XP_006716417.1, XM_006716354.2 [Q9H9T3-4] |
Genome annotation databases
Ensembli | ENST00000256398; ENSP00000256398; ENSG00000134014 [Q9H9T3-1] ENST00000380353; ENSP00000369711; ENSG00000134014 [Q9H9T3-5] ENST00000521015; ENSP00000428449; ENSG00000134014 [Q9H9T3-2] ENST00000537665; ENSP00000445558; ENSG00000134014 [Q9H9T3-4] |
GeneIDi | 55140 |
KEGGi | hsa:55140 |
UCSCi | uc003xgn.6, human [Q9H9T3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK001284 mRNA Translation: BAA91600.1 Sequence problems. AK022626 mRNA Translation: BAB14138.1 AK293424 mRNA Translation: BAG56930.1 AK295574 mRNA Translation: BAG58473.1 AK315985 mRNA Translation: BAH14356.1 AL834273 mRNA Translation: CAD38948.1 BX648011 mRNA Translation: CAH10573.1 Frameshift. AC019031 Genomic DNA No translation available. AC021678 Genomic DNA No translation available. BC001240 mRNA Translation: AAH01240.1 AK223047 mRNA Translation: BAD96767.1 |
CCDSi | CCDS6065.1 [Q9H9T3-1] CCDS64860.1 [Q9H9T3-5] CCDS64861.1 [Q9H9T3-4] CCDS75717.1 [Q9H9T3-2] |
RefSeqi | NP_001271151.1, NM_001284222.1 [Q9H9T3-2] NP_001271153.1, NM_001284224.1 [Q9H9T3-4] NP_001271154.1, NM_001284225.1 [Q9H9T3-4] NP_001271155.1, NM_001284226.1 [Q9H9T3-5] NP_060561.3, NM_018091.5 [Q9H9T3-1] XP_006716417.1, XM_006716354.2 [Q9H9T3-4] |
3D structure databases
SMRi | Q9H9T3 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120444, 79 interactors |
ComplexPortali | CPX-1949, Elongator holoenzyme complex |
CORUMi | Q9H9T3 |
DIPi | DIP-53227N |
IntActi | Q9H9T3, 30 interactors |
MINTi | Q9H9T3 |
STRINGi | 9606.ENSP00000256398 |
PTM databases
CarbonylDBi | Q9H9T3 |
iPTMneti | Q9H9T3 |
PhosphoSitePlusi | Q9H9T3 |
Polymorphism and mutation databases
BioMutai | ELP3 |
DMDMi | 145558902 |
Proteomic databases
EPDi | Q9H9T3 |
jPOSTi | Q9H9T3 |
MassIVEi | Q9H9T3 |
MaxQBi | Q9H9T3 |
PaxDbi | Q9H9T3 |
PeptideAtlasi | Q9H9T3 |
PRIDEi | Q9H9T3 |
ProteomicsDBi | 3914 4303 81361 [Q9H9T3-1] 81362 [Q9H9T3-2] |
Protocols and materials databases
Antibodypediai | 23089, 206 antibodies |
DNASUi | 55140 |
Genome annotation databases
Ensembli | ENST00000256398; ENSP00000256398; ENSG00000134014 [Q9H9T3-1] ENST00000380353; ENSP00000369711; ENSG00000134014 [Q9H9T3-5] ENST00000521015; ENSP00000428449; ENSG00000134014 [Q9H9T3-2] ENST00000537665; ENSP00000445558; ENSG00000134014 [Q9H9T3-4] |
GeneIDi | 55140 |
KEGGi | hsa:55140 |
UCSCi | uc003xgn.6, human [Q9H9T3-1] |
Organism-specific databases
CTDi | 55140 |
DisGeNETi | 55140 |
EuPathDBi | HostDB:ENSG00000134014.16 |
GeneCardsi | ELP3 |
HGNCi | HGNC:20696, ELP3 |
HPAi | ENSG00000134014, Low tissue specificity |
MIMi | 105400, phenotype 612722, gene |
neXtProti | NX_Q9H9T3 |
OpenTargetsi | ENSG00000134014 |
PharmGKBi | PA134992603 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2535, Eukaryota |
GeneTreei | ENSGT00390000013141 |
InParanoidi | Q9H9T3 |
OMAi | TFETRPD |
OrthoDBi | 320059at2759 |
PhylomeDBi | Q9H9T3 |
TreeFami | TF105752 |
Enzyme and pathway databases
UniPathwayi | UPA00988 |
PathwayCommonsi | Q9H9T3 |
Reactomei | R-HSA-3214847, HATs acetylate histones |
Miscellaneous databases
BioGRID-ORCSi | 55140, 645 hits in 861 CRISPR screens |
ChiTaRSi | ELP3, human |
GeneWikii | ELP3 |
GenomeRNAii | 55140 |
Pharosi | Q9H9T3, Tbio |
PROi | PR:Q9H9T3 |
RNActi | Q9H9T3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000134014, Expressed in amniotic fluid and 235 other tissues |
ExpressionAtlasi | Q9H9T3, baseline and differential |
Genevisiblei | Q9H9T3, HS |
Family and domain databases
Gene3Di | 3.80.30.20, 1 hit |
InterProi | View protein in InterPro IPR016181, Acyl_CoA_acyltransferase IPR039661, ELP3 IPR034687, ELP3-like IPR006638, Elp3/MiaB/NifB IPR000182, GNAT_dom IPR032432, Radical_SAM_C IPR007197, rSAM IPR023404, rSAM_horseshoe |
PANTHERi | PTHR11135, PTHR11135, 1 hit PTHR11135:SF0, PTHR11135:SF0, 1 hit |
Pfami | View protein in Pfam PF00583, Acetyltransf_1, 1 hit PF04055, Radical_SAM, 1 hit PF16199, Radical_SAM_C, 1 hit |
PIRSFi | PIRSF005669, Hist_AcTrfase_ELP3, 1 hit |
SFLDi | SFLDF00344, ELP3-like, 1 hit SFLDS00029, Radical_SAM, 1 hit |
SMARTi | View protein in SMART SM00729, Elp3, 1 hit |
SUPFAMi | SSF55729, SSF55729, 1 hit |
TIGRFAMsi | TIGR01211, ELP3, 1 hit |
PROSITEi | View protein in PROSITE PS51186, GNAT, 1 hit PS51918, RADICAL_SAM, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ELP3_HUMAN | |
Accessioni | Q9H9T3Primary (citable) accession number: Q9H9T3 Secondary accession number(s): B4DE19 Q9NVZ1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 17, 2007 |
Last sequence update: | April 17, 2007 | |
Last modified: | December 2, 2020 | |
This is version 174 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families - Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM