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Protein

Elongator complex protein 1

Gene

ELP1

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

Functioni

May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK).
Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved in cell migration. Involved in neurogenesis (By similarity). Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (By similarity).By similarity2 Publications

GO - Molecular functioni

  • phosphorylase kinase regulator activity Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-3214847 HATs acetylate histones
SignaLinkiO95163
SIGNORiO95163

Names & Taxonomyi

Protein namesi
Recommended name:
Elongator complex protein 1
Short name:
ELP1
Alternative name(s):
IkappaB kinase complex-associated protein
Short name:
IKK complex-associated protein
p150
Gene namesi
Name:ELP1Imported
Synonyms:IKAP, IKBKAP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000070061.14
HGNCiHGNC:5959 ELP1
MIMi603722 gene
neXtProtiNX_O95163

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

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Neuropathy, hereditary sensory and autonomic, 3 (HSAN3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN3 patients manifest a variety of symptoms such as alacrima, decreased taste, decreased sensitivity to pain and temperature, vasomotor instability, hypoactive or absent deep tendon reflexes, vomiting crises, and gastrointestinal dysfunction.
See also OMIM:223900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_011327696R → P in HSAN3; mild phenotype; phosphorylation is reduced. 2 PublicationsCorresponds to variant dbSNP:rs137853022EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNETi8518
GeneReviewsiIKBKAP
MalaCardsiELP1
MIMi223900 phenotype
OpenTargetsiENSG00000070061
Orphaneti1764 Familial dysautonomia
PharmGKBiPA29775

Polymorphism and mutation databases

BioMutaiIKBKAP

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000841771 – 1332Elongator complex protein 1Add BLAST1332

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei471PhosphoserineCombined sources1
Modified residuei804PhosphoserineCombined sources1
Modified residuei867PhosphoserineCombined sources1
Modified residuei1171PhosphoserineCombined sources1
Modified residuei1174PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO95163
MaxQBiO95163
PaxDbiO95163
PeptideAtlasiO95163
PRIDEiO95163
ProteomicsDBi50677

PTM databases

iPTMnetiO95163
PhosphoSitePlusiO95163

Expressioni

Gene expression databases

BgeeiENSG00000070061 Expressed in 229 organ(s), highest expression level in metanephros
CleanExiHS_IKBKAP
ExpressionAtlasiO95163 baseline and differential
GenevisibleiO95163 HS

Organism-specific databases

HPAiCAB021340
HPA049677
HPA050686

Interactioni

Subunit structurei

Interacts preferentially with MAP3K14/NIK followed by IKK-alpha and IKK-beta. Component of the RNA polymerase II elongator complex (Elongator), which consists of ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6. Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit. Interacts with ELP3.3 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi114090, 76 interactors
ComplexPortaliCPX-1949 Elongator holoenzyme complex
CORUMiO95163
DIPiDIP-27579N
IntActiO95163, 42 interactors
MINTiO95163
STRINGi9606.ENSP00000363779

Structurei

Secondary structure

11332
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO95163
SMRiO95163
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ELP1/IKA1 family.Curated

Phylogenomic databases

eggNOGiKOG1920 Eukaryota
COG5290 LUCA
GeneTreeiENSGT00390000013344
HOVERGENiHBG019038
InParanoidiO95163
KOiK11373
OMAiKVRVWNR
OrthoDBiEOG091G01A5
PhylomeDBiO95163
TreeFamiTF300402

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR006849 Elp1
IPR015943 WD40/YVTN_repeat-like_dom_sf
PANTHERiPTHR12747 PTHR12747, 1 hit
PfamiView protein in Pfam
PF04762 IKI3, 1 hit
PIRSFiPIRSF017233 IKAP, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

O95163-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:1,332
Mass (Da):150,254
Last modified:November 25, 2008 - v3
Checksum:i5BAC580433CC8641
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H2T0F5H2T0_HUMAN
Elongator complex protein 1
ELP1
983Annotation score:
H0YDF3H0YDF3_HUMAN
Elongator complex protein 1
ELP1
346Annotation score:

Sequence cautioni

The sequence CAB43219 differs from that shown. Reason: Frameshift at position 1286.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti304W → R in AAC64258 (PubMed:9751059).Curated1
Sequence conflicti754L → P in AAC64258 (PubMed:9751059).Curated1
Sequence conflicti961C → G in CAB43219 (PubMed:17974005).Curated1
Sequence conflicti1320I → V in CAB43219 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04747670R → C. Corresponds to variant dbSNP:rs3737311EnsemblClinVar.1
Natural variantiVAR_047477182M → K. Corresponds to variant dbSNP:rs10521092EnsemblClinVar.1
Natural variantiVAR_047478312E → K1 PublicationCorresponds to variant dbSNP:rs1140064EnsemblClinVar.1
Natural variantiVAR_047479525R → Q. Corresponds to variant dbSNP:rs838827EnsemblClinVar.1
Natural variantiVAR_011327696R → P in HSAN3; mild phenotype; phosphorylation is reduced. 2 PublicationsCorresponds to variant dbSNP:rs137853022EnsemblClinVar.1
Natural variantiVAR_047480765G → E. Corresponds to variant dbSNP:rs2230792EnsemblClinVar.1
Natural variantiVAR_047481816I → L. Corresponds to variant dbSNP:rs2230793EnsemblClinVar.1
Natural variantiVAR_047482830I → M. Corresponds to variant dbSNP:rs2230794EnsemblClinVar.1
Natural variantiVAR_047483848T → N. Corresponds to variant dbSNP:rs10979599EnsemblClinVar.1
Natural variantiVAR_047484952K → I. Corresponds to variant dbSNP:rs2230798EnsemblClinVar.1
Natural variantiVAR_0474851013G → S. Corresponds to variant dbSNP:rs2230795EnsemblClinVar.1
Natural variantiVAR_0474861072C → S2 PublicationsCorresponds to variant dbSNP:rs3204145EnsemblClinVar.1
Natural variantiVAR_0474871158P → L1 PublicationCorresponds 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.
CCDSiCCDS6773.1
RefSeqiNP_001305289.1, NM_001318360.1
NP_003631.2, NM_003640.4
UniGeneiHs.494738

Genome annotation databases

EnsembliENST00000374647; ENSP00000363779; ENSG00000070061
GeneIDi8518
KEGGihsa:8518
UCSCiuc004bdm.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.
CCDSiCCDS6773.1
RefSeqiNP_001305289.1, NM_001318360.1
NP_003631.2, NM_003640.4
UniGeneiHs.494738

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5CQRX-ray3.02A715-1332[»]
ProteinModelPortaliO95163
SMRiO95163
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114090, 76 interactors
ComplexPortaliCPX-1949 Elongator holoenzyme complex
CORUMiO95163
DIPiDIP-27579N
IntActiO95163, 42 interactors
MINTiO95163
STRINGi9606.ENSP00000363779

PTM databases

iPTMnetiO95163
PhosphoSitePlusiO95163

Polymorphism and mutation databases

BioMutaiIKBKAP

Proteomic databases

EPDiO95163
MaxQBiO95163
PaxDbiO95163
PeptideAtlasiO95163
PRIDEiO95163
ProteomicsDBi50677

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000374647; ENSP00000363779; ENSG00000070061
GeneIDi8518
KEGGihsa:8518
UCSCiuc004bdm.5 human

Organism-specific databases

CTDi8518
DisGeNETi8518
EuPathDBiHostDB:ENSG00000070061.14
GeneCardsiELP1
GeneReviewsiIKBKAP
HGNCiHGNC:5959 ELP1
HPAiCAB021340
HPA049677
HPA050686
MalaCardsiELP1
MIMi223900 phenotype
603722 gene
neXtProtiNX_O95163
OpenTargetsiENSG00000070061
Orphaneti1764 Familial dysautonomia
PharmGKBiPA29775
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1920 Eukaryota
COG5290 LUCA
GeneTreeiENSGT00390000013344
HOVERGENiHBG019038
InParanoidiO95163
KOiK11373
OMAiKVRVWNR
OrthoDBiEOG091G01A5
PhylomeDBiO95163
TreeFamiTF300402

Enzyme and pathway databases

ReactomeiR-HSA-3214847 HATs acetylate histones
SignaLinkiO95163
SIGNORiO95163

Miscellaneous databases

ChiTaRSiIKBKAP human
GenomeRNAii8518
PROiPR:O95163
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000070061 Expressed in 229 organ(s), highest expression level in metanephros
CleanExiHS_IKBKAP
ExpressionAtlasiO95163 baseline and differential
GenevisibleiO95163 HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR006849 Elp1
IPR015943 WD40/YVTN_repeat-like_dom_sf
PANTHERiPTHR12747 PTHR12747, 1 hit
PfamiView protein in Pfam
PF04762 IKI3, 1 hit
PIRSFiPIRSF017233 IKAP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiELP1_HUMAN
AccessioniPrimary (citable) accession number: O95163
Secondary accession number(s): Q5JSV2, Q9H327, Q9UG87
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2001
Last sequence update: November 25, 2008
Last modified: November 7, 2018
This is version 172 of the entry and version 3 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, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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