UniProtKB - O95163 (ELP1_HUMAN)
Elongator complex protein 1
ELP1
Functioni
Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) (PubMed:29332244).
The elongator complex catalyzes the formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244).
Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (By similarity).
ELP1 binds to tRNA, mediating interaction of the elongator complex with tRNA (By similarity).
May act as a scaffold protein that assembles active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK) (PubMed:9751059).
1 PublicationBy similarity1 PublicationCaution
: 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.
GO - Molecular functioni
- protein self-association Source: UniProtKB
- tRNA binding Source: GO_Central
GO - Biological processi
- tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation Source: GO_Central
Keywordsi
Biological process | tRNA processing |
Enzyme and pathway databases
PathwayCommonsi | O95163 |
Reactomei | R-HSA-3214847, HATs acetylate histones |
SignaLinki | O95163 |
SIGNORi | O95163 |
UniPathwayi | UPA00988 |
Names & Taxonomyi
Protein namesi | Recommended name: Elongator complex protein 1Short name: ELP1 Alternative name(s): IkappaB kinase complex-associated protein1 Publication Short name: IKK complex-associated protein1 Publication p150 |
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
HGNCi | HGNC:5959, ELP1 |
MIMi | 603722, gene |
neXtProti | NX_O95163 |
VEuPathDBi | HostDB:ENSG00000070061 |
Subcellular locationi
Cytosol
- cytosol Source: HPA
Nucleus
- nucleus Source: UniProtKB-SubCell
Other locations
- cytoplasm Source: UniProtKB
- elongator holoenzyme complex Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Neuropathy, hereditary sensory and autonomic, 3 (HSAN3)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_011327 | 696 | R → P in HSAN3; mild phenotype; phosphorylation is reduced; does not affect interaction with ELP2; reduced interaction with ELP3; does not affect dimerization. 3 PublicationsCorresponds to variant dbSNP:rs137853022EnsemblClinVar. | 1 | |
Natural variantiVAR_085681 | 914 | P → L in HSAN3; reduced interaction with ELP2; does not affect interaction with ELP3; does not affect dimerization. 2 Publications | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 1011 | R → A: Disruption of dimer formation, reduced protein stability and reduced interaction with ELP2 and ELP3. Does not affect binding to tRNA. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Neurodegeneration, NeuropathyOrganism-specific databases
DisGeNETi | 8518 |
GeneReviewsi | ELP1 |
MalaCardsi | ELP1 |
MIMi | 223900, phenotype |
OpenTargetsi | ENSG00000070061 |
Orphaneti | 1764, Familial dysautonomia |
PharmGKBi | PA29775 |
Miscellaneous databases
Pharosi | O95163, Tbio |
Genetic variation databases
BioMutai | ELP1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000084177 | 1 – 1332 | Elongator complex protein 1Add BLAST | 1332 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 471 | PhosphoserineCombined sources | 1 | |
Modified residuei | 804 | PhosphoserineCombined sources | 1 | |
Modified residuei | 867 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1171 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1174 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | O95163 |
jPOSTi | O95163 |
MassIVEi | O95163 |
MaxQBi | O95163 |
PaxDbi | O95163 |
PeptideAtlasi | O95163 |
PRIDEi | O95163 |
ProteomicsDBi | 50677 |
PTM databases
GlyGeni | O95163, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | O95163 |
MetOSitei | O95163 |
PhosphoSitePlusi | O95163 |
Expressioni
Gene expression databases
Bgeei | ENSG00000070061, Expressed in metanephros and 241 other tissues |
ExpressionAtlasi | O95163, baseline and differential |
Genevisiblei | O95163, HS |
Organism-specific databases
HPAi | ENSG00000070061, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer; dimerization promotes ELP1 stability and elongator complex formation (PubMed:26261306).
Component of the elongator complex which consists of ELP1, ELP2, ELP3, ELP4, ELP5 and ELP6 (PubMed:11714725, PubMed:11818576, PubMed:22854966, PubMed:11818576, PubMed:26261306, PubMed:25960406).
Interacts preferentially with MAP3K14/NIK followed by IKK-alpha and IKK-beta (PubMed:9751059).
5 PublicationsBinary interactionsi
O95163
With | #Exp. | IntAct |
---|---|---|
ELP3 [Q9H9T3] | 8 | EBI-347559,EBI-355217 |
HTT [P42858] | 4 | EBI-347559,EBI-466029 |
IRF4 [Q15306] | 2 | EBI-347559,EBI-751345 |
GO - Molecular functioni
- protein self-association Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 114090, 117 interactors |
ComplexPortali | CPX-1949, Elongator holoenzyme complex |
CORUMi | O95163 |
DIPi | DIP-27579N |
IntActi | O95163, 51 interactors |
MINTi | O95163 |
STRINGi | 9606.ENSP00000363779 |
Miscellaneous databases
RNActi | O95163, protein |
Structurei
Secondary structure
3D structure databases
SMRi | O95163 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 885 – 1332 | Mediates dimerization1 PublicationAdd BLAST | 448 | |
Regioni | 1150 – 1208 | DisorderedSequence analysisAdd BLAST | 59 | |
Regioni | 1191 – 1209 | Required for binding to tRNABy similarityAdd BLAST | 19 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1163 – 1190 | Polar residuesSequence analysisAdd BLAST | 28 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1920, Eukaryota |
GeneTreei | ENSGT00390000013344 |
HOGENOMi | CLU_001477_1_0_1 |
InParanoidi | O95163 |
OMAi | TAHVCKS |
OrthoDBi | 180136at2759 |
PhylomeDBi | O95163 |
TreeFami | TF300402 |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
IDEALi | IID00644 |
InterProi | View protein in InterPro IPR006849, Elp1 IPR015943, WD40/YVTN_repeat-like_dom_sf |
PANTHERi | PTHR12747, PTHR12747, 1 hit |
Pfami | View protein in Pfam PF04762, IKI3, 1 hit |
PIRSFi | PIRSF017233, IKAP, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 21 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MRNLKLFRTL EFRDIQGPGN PQCFSLRTEQ GTVLIGSEHG LIEVDPVSRE
60 70 80 90 100
VKNEVSLVAE GFLPEDGSGR IVGVQDLLDQ ESVCVATASG DVILCSLSTQ
110 120 130 140 150
QLECVGSVAS GISVMSWSPD QELVLLATGQ QTLIMMTKDF EPILEQQIHQ
160 170 180 190 200
DDFGESKFIT VGWGRKETQF HGSEGRQAAF QMQMHESALP WDDHRPQVTW
210 220 230 240 250
RGDGQFFAVS VVCPETGARK VRVWNREFAL QSTSEPVAGL GPALAWKPSG
260 270 280 290 300
SLIASTQDKP NQQDIVFFEK NGLLHGHFTL PFLKDEVKVN DLLWNADSSV
310 320 330 340 350
LAVWLEDLQR EESSIPKTCV QLWTVGNYHW YLKQSLSFST CGKSKIVSLM
360 370 380 390 400
WDPVTPYRLH VLCQGWHYLA YDWHWTTDRS VGDNSSDLSN VAVIDGNRVL
410 420 430 440 450
VTVFRQTVVP PPMCTYQLLF PHPVNQVTFL AHPQKSNDLA VLDASNQISV
460 470 480 490 500
YKCGDCPSAD PTVKLGAVGG SGFKVCLRTP HLEKRYKIQF ENNEDQDVNP
510 520 530 540 550
LKLGLLTWIE EDVFLAVSHS EFSPRSVIHH LTAASSEMDE EHGQLNVSSS
560 570 580 590 600
AAVDGVIISL CCNSKTKSVV LQLADGQIFK YLWESPSLAI KPWKNSGGFP
610 620 630 640 650
VRFPYPCTQT ELAMIGEEEC VLGLTDRCRF FINDIEVASN ITSFAVYDEF
660 670 680 690 700
LLLTTHSHTC QCFCLRDASF KTLQAGLSSN HVSHGEVLRK VERGSRIVTV
710 720 730 740 750
VPQDTKLVLQ MPRGNLEVVH HRALVLAQIR KWLDKLMFKE AFECMRKLRI
760 770 780 790 800
NLNLIYDHNP KVFLGNVETF IKQIDSVNHI NLFFTELKEE DVTKTMYPAP
810 820 830 840 850
VTSSVYLSRD PDGNKIDLVC DAMRAVMESI NPHKYCLSIL TSHVKKTTPE
860 870 880 890 900
LEIVLQKVHE LQGNAPSDPD AVSAEEALKY LLHLVDVNEL YDHSLGTYDF
910 920 930 940 950
DLVLMVAEKS QKDPKEYLPF LNTLKKMETN YQRFTIDKYL KRYEKAIGHL
960 970 980 990 1000
SKCGPEYFPE CLNLIKDKNL YNEALKLYSP SSQQYQDISI AYGEHLMQEH
1010 1020 1030 1040 1050
MYEPAGLMFA RCGAHEKALS AFLTCGNWKQ ALCVAAQLNF TKDQLVGLGR
1060 1070 1080 1090 1100
TLAGKLVEQR KHIDAAMVLE ECAQDYEEAV LLLLEGAAWE EALRLVYKYN
1110 1120 1130 1140 1150
RLDIIETNVK PSILEAQKNY MAFLDSQTAT FSRHKKRLLV VRELKEQAQQ
1160 1170 1180 1190 1200
AGLDDEVPHG QESDLFSETS SVVSGSEMSG KYSHSNSRIS ARSSKNRRKA
1210 1220 1230 1240 1250
ERKKHSLKEG SPLEDLALLE ALSEVVQNTE NLKDEVYHIL KVLFLFEFDE
1260 1270 1280 1290 1300
QGRELQKAFE DTLQLMERSL PEIWTLTYQQ NSATPVLGPN STANSIMASY
1310 1320 1330
QQQKTSVPVL DAELFIPPKI NRRTQWKLSL LD
Computationally mapped potential isoform sequencesi
There are 21 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A6Q8PHC9 | A0A6Q8PHC9_HUMAN | Elongator complex protein 1 | ELP1 | 1,346 | Annotation score: | ||
A0A6Q8PF66 | A0A6Q8PF66_HUMAN | Elongator complex protein 1 | ELP1 | 1,232 | Annotation score: | ||
A0A6Q8PGW3 | A0A6Q8PGW3_HUMAN | Elongator complex protein 1 | ELP1 | 1,218 | Annotation score: | ||
A0A6Q8PEX6 | A0A6Q8PEX6_HUMAN | Elongator complex protein 1 | ELP1 | 1,299 | Annotation score: | ||
A0A6Q8PFB7 | A0A6Q8PFB7_HUMAN | Elongator complex protein 1 | ELP1 | 1,295 | Annotation score: | ||
A0A6Q8PG86 | A0A6Q8PG86_HUMAN | Elongator complex protein 1 | ELP1 | 1,302 | Annotation score: | ||
A0A6Q8PHF4 | A0A6Q8PHF4_HUMAN | Elongator complex protein 1 | ELP1 | 1,343 | Annotation score: | ||
A0A6Q8PFH9 | A0A6Q8PFH9_HUMAN | Elongator complex protein 1 | ELP1 | 1,313 | Annotation score: | ||
F5H2T0 | F5H2T0_HUMAN | IkappaB kinase complex-associated p... | ELP1 | 983 | Annotation score: | ||
A0A6Q8PHI5 | A0A6Q8PHI5_HUMAN | Elongator complex protein 1 | ELP1 | 1,184 | Annotation score: | ||
There are more potential isoformsShow all |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 304 | W → R in AAC64258 (PubMed:9751059).Curated | 1 | |
Sequence conflicti | 754 | L → P in AAC64258 (PubMed:9751059).Curated | 1 | |
Sequence conflicti | 961 | C → G in CAB43219 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1320 | I → V in CAB43219 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_047476 | 70 | R → C. Corresponds to variant dbSNP:rs3737311EnsemblClinVar. | 1 | |
Natural variantiVAR_047477 | 182 | M → K. Corresponds to variant dbSNP:rs10521092EnsemblClinVar. | 1 | |
Natural variantiVAR_047478 | 312 | E → K1 PublicationCorresponds to variant dbSNP:rs1140064EnsemblClinVar. | 1 | |
Natural variantiVAR_047479 | 525 | R → Q. Corresponds to variant dbSNP:rs838827EnsemblClinVar. | 1 | |
Natural variantiVAR_011327 | 696 | R → P in HSAN3; mild phenotype; phosphorylation is reduced; does not affect interaction with ELP2; reduced interaction with ELP3; does not affect dimerization. 3 PublicationsCorresponds to variant dbSNP:rs137853022EnsemblClinVar. | 1 | |
Natural variantiVAR_047480 | 765 | G → E. Corresponds to variant dbSNP:rs2230792EnsemblClinVar. | 1 | |
Natural variantiVAR_047481 | 816 | I → L. Corresponds to variant dbSNP:rs2230793EnsemblClinVar. | 1 | |
Natural variantiVAR_047482 | 830 | I → M. Corresponds to variant dbSNP:rs2230794EnsemblClinVar. | 1 | |
Natural variantiVAR_047483 | 848 | T → N. Corresponds to variant dbSNP:rs10979599EnsemblClinVar. | 1 | |
Natural variantiVAR_085681 | 914 | P → L in HSAN3; reduced interaction with ELP2; does not affect interaction with ELP3; does not affect dimerization. 2 Publications | 1 | |
Natural variantiVAR_047484 | 952 | K → I. Corresponds to variant dbSNP:rs2230798EnsemblClinVar. | 1 | |
Natural variantiVAR_047485 | 1013 | G → S. Corresponds to variant dbSNP:rs2230795EnsemblClinVar. | 1 | |
Natural variantiVAR_047486 | 1072 | C → S Reduced interaction with ELP2; does not affect interaction with ELP3; does not affect dimerization. 3 PublicationsCorresponds to variant dbSNP:rs3204145EnsemblClinVar. | 1 | |
Natural variantiVAR_047487 | 1158 | P → L Reduced interaction with ELP2; does not affect interaction with ELP3; does not affect dimerization. 2 PublicationsCorresponds to variant dbSNP:rs1538660EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF044195 mRNA Translation: AAC64258.1 AF153419 mRNA Translation: AAG43369.1 AK001641 mRNA Translation: BAG50955.1 AK289962 mRNA Translation: BAF82651.1 AL354797 Genomic DNA No translation available. AL359692 Genomic DNA No translation available. CH471105 Genomic DNA Translation: EAW59027.1 AL049945 mRNA Translation: CAB43219.1 Frameshift. |
CCDSi | CCDS6773.1 |
RefSeqi | NP_001305289.1, NM_001318360.1 NP_003631.2, NM_003640.4 |
Genome annotation databases
Ensembli | ENST00000374647; ENSP00000363779; ENSG00000070061 ENST00000675406; ENSP00000501893; ENSG00000070061 |
GeneIDi | 8518 |
KEGGi | hsa:8518 |
MANE-Selecti | ENST00000374647.10; ENSP00000363779.5; NM_003640.5; NP_003631.2 |
UCSCi | uc004bdm.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF044195 mRNA Translation: AAC64258.1 AF153419 mRNA Translation: AAG43369.1 AK001641 mRNA Translation: BAG50955.1 AK289962 mRNA Translation: BAF82651.1 AL354797 Genomic DNA No translation available. AL359692 Genomic DNA No translation available. CH471105 Genomic DNA Translation: EAW59027.1 AL049945 mRNA Translation: CAB43219.1 Frameshift. |
CCDSi | CCDS6773.1 |
RefSeqi | NP_001305289.1, NM_001318360.1 NP_003631.2, NM_003640.4 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5CQR | X-ray | 3.02 | A | 715-1332 | [»] | |
SMRi | O95163 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 114090, 117 interactors |
ComplexPortali | CPX-1949, Elongator holoenzyme complex |
CORUMi | O95163 |
DIPi | DIP-27579N |
IntActi | O95163, 51 interactors |
MINTi | O95163 |
STRINGi | 9606.ENSP00000363779 |
PTM databases
GlyGeni | O95163, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | O95163 |
MetOSitei | O95163 |
PhosphoSitePlusi | O95163 |
Genetic variation databases
BioMutai | ELP1 |
Proteomic databases
EPDi | O95163 |
jPOSTi | O95163 |
MassIVEi | O95163 |
MaxQBi | O95163 |
PaxDbi | O95163 |
PeptideAtlasi | O95163 |
PRIDEi | O95163 |
ProteomicsDBi | 50677 |
Protocols and materials databases
Antibodypediai | 14913, 268 antibodies from 32 providers |
DNASUi | 8518 |
Genome annotation databases
Ensembli | ENST00000374647; ENSP00000363779; ENSG00000070061 ENST00000675406; ENSP00000501893; ENSG00000070061 |
GeneIDi | 8518 |
KEGGi | hsa:8518 |
MANE-Selecti | ENST00000374647.10; ENSP00000363779.5; NM_003640.5; NP_003631.2 |
UCSCi | uc004bdm.5, human |
Organism-specific databases
CTDi | 8518 |
DisGeNETi | 8518 |
GeneCardsi | ELP1 |
GeneReviewsi | ELP1 |
HGNCi | HGNC:5959, ELP1 |
HPAi | ENSG00000070061, Low tissue specificity |
MalaCardsi | ELP1 |
MIMi | 223900, phenotype 603722, gene |
neXtProti | NX_O95163 |
OpenTargetsi | ENSG00000070061 |
Orphaneti | 1764, Familial dysautonomia |
PharmGKBi | PA29775 |
VEuPathDBi | HostDB:ENSG00000070061 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1920, Eukaryota |
GeneTreei | ENSGT00390000013344 |
HOGENOMi | CLU_001477_1_0_1 |
InParanoidi | O95163 |
OMAi | TAHVCKS |
OrthoDBi | 180136at2759 |
PhylomeDBi | O95163 |
TreeFami | TF300402 |
Enzyme and pathway databases
UniPathwayi | UPA00988 |
PathwayCommonsi | O95163 |
Reactomei | R-HSA-3214847, HATs acetylate histones |
SignaLinki | O95163 |
SIGNORi | O95163 |
Miscellaneous databases
BioGRID-ORCSi | 8518, 635 hits in 1023 CRISPR screens |
ChiTaRSi | IKBKAP, human |
GenomeRNAii | 8518 |
Pharosi | O95163, Tbio |
PROi | PR:O95163 |
RNActi | O95163, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000070061, Expressed in metanephros and 241 other tissues |
ExpressionAtlasi | O95163, baseline and differential |
Genevisiblei | O95163, HS |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
IDEALi | IID00644 |
InterProi | View protein in InterPro IPR006849, Elp1 IPR015943, WD40/YVTN_repeat-like_dom_sf |
PANTHERi | PTHR12747, PTHR12747, 1 hit |
Pfami | View protein in Pfam PF04762, IKI3, 1 hit |
PIRSFi | PIRSF017233, IKAP, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ELP1_HUMAN | |
Accessioni | O95163Primary (citable) accession number: O95163 Secondary accession number(s): Q5JSV2, Q9H327, Q9UG87 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 20, 2001 |
Last sequence update: | November 25, 2008 | |
Last modified: | February 23, 2022 | |
This is version 193 of the entry and version 3 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
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families