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Protein

Elongator complex protein 1

Gene

IKBKAP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
  • signal transducer activity Source: ProtInc

GO - Biological processi

  • immune response Source: ProtInc
  • positive regulation of cell migration Source: UniProtKB
  • protein complex assembly Source: ProtInc
  • protein phosphorylation Source: ProtInc
  • regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • transcription elongation from RNA polymerase II promoter Source: BHF-UCL
  • tRNA wobble uridine modification Source: InterPro
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000070061-MONOMER.
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:IKBKAP
Synonyms:ELP1, IKAP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:5959. IKBKAP.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • Elongator holoenzyme complex Source: UniProtKB
  • histone acetyltransferase complex Source: BHF-UCL
  • nucleolus Source: HGNC
  • transcription elongation factor complex Source: UniProtKB
Complete GO annotation...

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 rs137853022dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNETi8518.
MalaCardsiIKBKAP.
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.

PTM databases

iPTMnetiO95163.
PhosphoSitePlusiO95163.

Expressioni

Gene expression databases

BgeeiENSG00000070061.
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 IKBKAP/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

WithEntry#Exp.IntActNotes
ELP3Q9H9T38EBI-347559,EBI-355217
HTTP428584EBI-347559,EBI-466029
IRF4Q153062EBI-347559,EBI-751345

Protein-protein interaction databases

BioGridi114090. 70 interactors.
DIPiDIP-27579N.
IntActiO95163. 32 interactors.
MINTiMINT-1034584.
STRINGi9606.ENSP00000363779.

Structurei

Secondary structure

11332
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi723 – 734Combined sources12
Helixi738 – 747Combined sources10
Helixi754 – 757Combined sources4
Helixi760 – 763Combined sources4
Helixi767 – 773Combined sources7
Helixi777 – 786Combined sources10
Turni792 – 796Combined sources5
Helixi815 – 830Combined sources16
Turni832 – 835Combined sources4
Helixi836 – 844Combined sources9
Beta strandi846 – 848Combined sources3
Helixi851 – 860Combined sources10
Helixi868 – 870Combined sources3
Helixi874 – 882Combined sources9
Helixi887 – 894Combined sources8
Turni895 – 897Combined sources3
Helixi900 – 908Combined sources9
Helixi918 – 924Combined sources7
Helixi929 – 939Combined sources11
Helixi943 – 950Combined sources8
Beta strandi955 – 957Combined sources3
Helixi958 – 967Combined sources10
Helixi971 – 975Combined sources5
Helixi983 – 997Combined sources15
Turni998 – 1000Combined sources3
Helixi1002 – 1011Combined sources10
Helixi1015 – 1024Combined sources10
Helixi1028 – 1036Combined sources9
Turni1037 – 1039Combined sources3
Helixi1042 – 1057Combined sources16
Turni1058 – 1060Combined sources3
Helixi1062 – 1072Combined sources11
Helixi1076 – 1085Combined sources10
Helixi1089 – 1097Combined sources9
Turni1098 – 1100Combined sources3
Helixi1103 – 1107Combined sources5
Helixi1109 – 1126Combined sources18
Turni1127 – 1130Combined sources4
Helixi1233 – 1245Combined sources13
Helixi1249 – 1264Combined sources16

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...

Family & Domainsi

Sequence similaritiesi

Belongs to the ELP1/IKA1 family.Curated

Phylogenomic databases

eggNOGiKOG1920. Eukaryota.
COG5290. LUCA.
GeneTreeiENSGT00390000013344.
HOVERGENiHBG019038.
InParanoidiO95163.
KOiK11373.
OMAiCIASWDA.
OrthoDBiEOG091G01A5.
PhylomeDBiO95163.
TreeFamiTF300402.

Family and domain databases

Gene3Di2.120.10.30. 2 hits.
InterProiIPR011042. 6-blade_b-propeller_TolB-like.
IPR006849. Iki3.
[Graphical view]
PANTHERiPTHR12747. PTHR12747. 1 hit.
PfamiPF04762. IKI3. 1 hit.
[Graphical view]
PIRSFiPIRSF017233. IKAP. 1 hit.

Sequencei

Sequence statusi: Complete.

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

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 rs3737311dbSNPEnsembl.1
Natural variantiVAR_047477182M → K.Corresponds to variant rs10521092dbSNPEnsembl.1
Natural variantiVAR_047478312E → K.1 PublicationCorresponds to variant rs1140064dbSNPEnsembl.1
Natural variantiVAR_047479525R → Q.Corresponds to variant rs838827dbSNPEnsembl.1
Natural variantiVAR_011327696R → P in HSAN3; mild phenotype; phosphorylation is reduced. 2 PublicationsCorresponds to variant rs137853022dbSNPEnsembl.1
Natural variantiVAR_047480765G → E.Corresponds to variant rs2230792dbSNPEnsembl.1
Natural variantiVAR_047481816I → L.Corresponds to variant rs2230793dbSNPEnsembl.1
Natural variantiVAR_047482830I → M.Corresponds to variant rs2230794dbSNPEnsembl.1
Natural variantiVAR_047483848T → N.Corresponds to variant rs10979599dbSNPEnsembl.1
Natural variantiVAR_047484952K → I.Corresponds to variant rs2230798dbSNPEnsembl.1
Natural variantiVAR_0474851013G → S.Corresponds to variant rs2230795dbSNPEnsembl.1
Natural variantiVAR_0474861072C → S.2 PublicationsCorresponds to variant rs3204145dbSNPEnsembl.1
Natural variantiVAR_0474871158P → L.1 PublicationCorresponds to variant rs1538660dbSNPEnsembl.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, AL359692 Genomic DNA. Translation: CAI39465.1.
AL359692, AL354797 Genomic DNA. Translation: CAI40569.1.
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.

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, AL359692 Genomic DNA. Translation: CAI39465.1.
AL359692, AL354797 Genomic DNA. Translation: CAI40569.1.
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. 70 interactors.
DIPiDIP-27579N.
IntActiO95163. 32 interactors.
MINTiMINT-1034584.
STRINGi9606.ENSP00000363779.

PTM databases

iPTMnetiO95163.
PhosphoSitePlusiO95163.

Polymorphism and mutation databases

BioMutaiIKBKAP.

Proteomic databases

EPDiO95163.
MaxQBiO95163.
PaxDbiO95163.
PeptideAtlasiO95163.
PRIDEiO95163.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi8518.
DisGeNETi8518.
GeneCardsiIKBKAP.
GeneReviewsiIKBKAP.
HGNCiHGNC:5959. IKBKAP.
HPAiCAB021340.
HPA049677.
HPA050686.
MalaCardsiIKBKAP.
MIMi223900. phenotype.
603722. gene.
neXtProtiNX_O95163.
OpenTargetsiENSG00000070061.
Orphaneti1764. Familial dysautonomia.
PharmGKBiPA29775.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1920. Eukaryota.
COG5290. LUCA.
GeneTreeiENSGT00390000013344.
HOVERGENiHBG019038.
InParanoidiO95163.
KOiK11373.
OMAiCIASWDA.
OrthoDBiEOG091G01A5.
PhylomeDBiO95163.
TreeFamiTF300402.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000070061-MONOMER.
ReactomeiR-HSA-3214847. HATs acetylate histones.
SignaLinkiO95163.
SIGNORiO95163.

Miscellaneous databases

ChiTaRSiIKBKAP. human.
GenomeRNAii8518.
PROiO95163.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000070061.
CleanExiHS_IKBKAP.
ExpressionAtlasiO95163. baseline and differential.
GenevisibleiO95163. HS.

Family and domain databases

Gene3Di2.120.10.30. 2 hits.
InterProiIPR011042. 6-blade_b-propeller_TolB-like.
IPR006849. Iki3.
[Graphical view]
PANTHERiPTHR12747. PTHR12747. 1 hit.
PfamiPF04762. IKI3. 1 hit.
[Graphical view]
PIRSFiPIRSF017233. IKAP. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiELP1_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 156 of the entry and version 3 of the sequence. [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. Human chromosome 9
    Human chromosome 9: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.