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Protein

Elongator complex protein 3

Gene

ELP3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic histone acetyltransferase subunit of the RNA polymerase II elongator complex, which is a 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 acetylation of alpha-tubulin (PubMed:19185337). May also have a methyltransferase activity. Involved in cell migration. Involved in neurogenesis. Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (By similarity).By similarity5 Publications

Catalytic activityi

Acetyl-CoA + [histone] = CoA + acetyl-[histone].

Cofactori

[4Fe-4S] clusterBy similarityNote: Binds 1 [4Fe-4S] cluster. The cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi99Iron-sulfur (4Fe-4S-S-AdoMet)By similarity1
Metal bindingi109Iron-sulfur (4Fe-4S-S-AdoMet)By similarity1
Metal bindingi112Iron-sulfur (4Fe-4S-S-AdoMet)By similarity1

GO - Molecular functioni

  • H3 histone acetyltransferase activity Source: BHF-UCL
  • H4 histone acetyltransferase activity Source: BHF-UCL
  • iron-sulfur cluster binding Source: UniProtKB-KW
  • metal ion binding Source: UniProtKB-KW
  • phosphorylase kinase regulator activity Source: UniProtKB

GO - Biological processi

  • central nervous system development Source: UniProtKB
  • histone H3 acetylation Source: BHF-UCL
  • histone H4 acetylation Source: BHF-UCL
  • neuron migration Source: UniProtKB
  • positive regulation of cell migration Source: UniProtKB
  • 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: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Acyltransferase, Transferase

Keywords - Biological processi

Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

Iron, Iron-sulfur, Metal-binding, S-adenosyl-L-methionine

Enzyme and pathway databases

BioCyciZFISH:HS05804-MONOMER.
ReactomeiR-HSA-3214847. HATs acetylate histones.

Names & Taxonomyi

Protein namesi
Recommended name:
Elongator complex protein 3 (EC:2.3.1.48)
Short name:
hELP3
Gene namesi
Name:ELP3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:20696. ELP3.

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

ELP3 genetic variations may be associated with an increased risk for neurodegeneration and motor neuron diseases.

Keywords - Diseasei

Neurodegeneration

Organism-specific databases

DisGeNETi55140.
OpenTargetsiENSG00000134014.
PharmGKBiPA134992603.

Polymorphism and mutation databases

BioMutaiELP3.
DMDMi145558902.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002839861 – 547Elongator complex protein 3Add BLAST547

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei161PhosphoserineBy similarity1
Modified residuei202PhosphotyrosineCombined sources1
Modified residuei229N6-methyllysineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ9H9T3.
MaxQBiQ9H9T3.
PaxDbiQ9H9T3.
PeptideAtlasiQ9H9T3.
PRIDEiQ9H9T3.

PTM databases

iPTMnetiQ9H9T3.
PhosphoSitePlusiQ9H9T3.

Expressioni

Tissue specificityi

Expressed in the cerebellum and spinal motor neurons.1 Publication

Gene expression databases

BgeeiENSG00000134014.
CleanExiHS_ELP3.
ExpressionAtlasiQ9H9T3. baseline and differential.
GenevisibleiQ9H9T3. HS.

Organism-specific databases

HPAiHPA025812.

Interactioni

Subunit structurei

Component of the RNA polymerase II elongator complex (Elongator), which consists of IKBKAP/ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6. IKBKAP/ELP1, STIP1/ELP2 and ELP3 form the Elongator core complex. Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit. Interacts with IKBKAP/ELP1 (PubMed:11818576, PubMed:19185337). Interacts with alpha-tubulin (PubMed:19185337).4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
IKBKAPO951638EBI-355217,EBI-347559

Protein-protein interaction databases

BioGridi120444. 42 interactors.
DIPiDIP-53227N.
IntActiQ9H9T3. 16 interactors.
MINTiMINT-3062287.
STRINGi9606.ENSP00000256398.

Structurei

3D structure databases

ProteinModelPortaliQ9H9T3.
SMRiQ9H9T3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini396 – 547N-acetyltransferasePROSITE-ProRule annotationAdd BLAST152

Sequence similaritiesi

Belongs to the ELP3 family.Curated
Contains 1 N-acetyltransferase domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG2535. Eukaryota.
COG1243. LUCA.
GeneTreeiENSGT00390000013141.
HOGENOMiHOG000227514.
HOVERGENiHBG107845.
InParanoidiQ9H9T3.
KOiK07739.
OMAiMPDLPNM.
OrthoDBiEOG091G03ZS.
PhylomeDBiQ9H9T3.
TreeFamiTF105752.

Family and domain databases

Gene3Di3.40.630.30. 1 hit.
3.80.30.20. 1 hit.
InterProiIPR016181. Acyl_CoA_acyltransferase.
IPR006638. Elp3/MiaB/NifB.
IPR000182. GNAT_dom.
IPR005910. Hist_AcTrfase_ELP3.
IPR032432. Radical_SAM_C.
IPR007197. rSAM.
IPR023404. rSAM_horseshoe.
[Graphical view]
PfamiPF00583. Acetyltransf_1. 1 hit.
PF04055. Radical_SAM. 1 hit.
PF16199. Radical_SAM_C. 1 hit.
[Graphical view]
PIRSFiPIRSF005669. Hist_AcTrfase_ELP3. 1 hit.
SMARTiSM00729. Elp3. 1 hit.
[Graphical view]
SUPFAMiSSF55729. SSF55729. 1 hit.
TIGRFAMsiTIGR01211. ELP3. 1 hit.
PROSITEiPS51186. GNAT. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H9T3-1) [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
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
Length:547
Mass (Da):62,259
Last modified:April 17, 2007 - v2
Checksum:i60898ADD3DBAD035
GO
Isoform 2 (identifier: Q9H9T3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: Missing.

Show »
Length:533
Mass (Da):60,648
Checksum:iDF8E71D8D401B90C
GO
Isoform 3 (identifier: Q9H9T3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-12: MRQKRKGDLSPA → MSTHQFYRKYMC
     13-131: Missing.

Note: No experimental confirmation available.
Show »
Length:428
Mass (Da):49,405
Checksum:iF11EEC322AAE8964
GO
Isoform 4 (identifier: Q9H9T3-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-92: Missing.

Note: No experimental confirmation available.
Show »
Length:455
Mass (Da):52,202
Checksum:iC64BAB6FED06D973
GO

Sequence cautioni

The sequence BAA91600 differs from that shown. Aberrant splicing.Curated
The sequence CAH10573 differs from that shown. Reason: Frameshift at position 279.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti10S → G in BAA91600 (PubMed:14702039).Curated1
Sequence conflicti30H → Y in BAD96767 (Ref. 5) Curated1
Sequence conflicti179E → K in CAH10573 (PubMed:17974005).Curated1
Sequence conflicti265K → M in BAB14138 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0552841 – 92Missing in isoform 4. 1 PublicationAdd BLAST92
Alternative sequenceiVSP_0244061 – 14Missing in isoform 2. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_0552851 – 12MRQKR…DLSPA → MSTHQFYRKYMC in isoform 3. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_05528613 – 131Missing in isoform 3. 1 PublicationAdd BLAST119

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.
CCDSiCCDS6065.1. [Q9H9T3-1]
CCDS64860.1. [Q9H9T3-5]
CCDS64861.1. [Q9H9T3-4]
CCDS75717.1. [Q9H9T3-2]
RefSeqiNP_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]
UniGeneiHs.491336.

Genome annotation databases

EnsembliENST00000256398; ENSP00000256398; ENSG00000134014. [Q9H9T3-1]
ENST00000380353; ENSP00000369711; ENSG00000134014. [Q9H9T3-5]
ENST00000521015; ENSP00000428449; ENSG00000134014. [Q9H9T3-2]
ENST00000537665; ENSP00000445558; ENSG00000134014. [Q9H9T3-4]
GeneIDi55140.
KEGGihsa:55140.
UCSCiuc003xgn.6. human. [Q9H9T3-1]

Keywords - Coding sequence diversityi

Alternative splicing

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.
CCDSiCCDS6065.1. [Q9H9T3-1]
CCDS64860.1. [Q9H9T3-5]
CCDS64861.1. [Q9H9T3-4]
CCDS75717.1. [Q9H9T3-2]
RefSeqiNP_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]
UniGeneiHs.491336.

3D structure databases

ProteinModelPortaliQ9H9T3.
SMRiQ9H9T3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120444. 42 interactors.
DIPiDIP-53227N.
IntActiQ9H9T3. 16 interactors.
MINTiMINT-3062287.
STRINGi9606.ENSP00000256398.

PTM databases

iPTMnetiQ9H9T3.
PhosphoSitePlusiQ9H9T3.

Polymorphism and mutation databases

BioMutaiELP3.
DMDMi145558902.

Proteomic databases

EPDiQ9H9T3.
MaxQBiQ9H9T3.
PaxDbiQ9H9T3.
PeptideAtlasiQ9H9T3.
PRIDEiQ9H9T3.

Protocols and materials databases

DNASUi55140.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000256398; ENSP00000256398; ENSG00000134014. [Q9H9T3-1]
ENST00000380353; ENSP00000369711; ENSG00000134014. [Q9H9T3-5]
ENST00000521015; ENSP00000428449; ENSG00000134014. [Q9H9T3-2]
ENST00000537665; ENSP00000445558; ENSG00000134014. [Q9H9T3-4]
GeneIDi55140.
KEGGihsa:55140.
UCSCiuc003xgn.6. human. [Q9H9T3-1]

Organism-specific databases

CTDi55140.
DisGeNETi55140.
GeneCardsiELP3.
HGNCiHGNC:20696. ELP3.
HPAiHPA025812.
MIMi612722. gene.
neXtProtiNX_Q9H9T3.
OpenTargetsiENSG00000134014.
PharmGKBiPA134992603.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2535. Eukaryota.
COG1243. LUCA.
GeneTreeiENSGT00390000013141.
HOGENOMiHOG000227514.
HOVERGENiHBG107845.
InParanoidiQ9H9T3.
KOiK07739.
OMAiMPDLPNM.
OrthoDBiEOG091G03ZS.
PhylomeDBiQ9H9T3.
TreeFamiTF105752.

Enzyme and pathway databases

BioCyciZFISH:HS05804-MONOMER.
ReactomeiR-HSA-3214847. HATs acetylate histones.

Miscellaneous databases

GeneWikiiELP3.
GenomeRNAii55140.
PROiQ9H9T3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134014.
CleanExiHS_ELP3.
ExpressionAtlasiQ9H9T3. baseline and differential.
GenevisibleiQ9H9T3. HS.

Family and domain databases

Gene3Di3.40.630.30. 1 hit.
3.80.30.20. 1 hit.
InterProiIPR016181. Acyl_CoA_acyltransferase.
IPR006638. Elp3/MiaB/NifB.
IPR000182. GNAT_dom.
IPR005910. Hist_AcTrfase_ELP3.
IPR032432. Radical_SAM_C.
IPR007197. rSAM.
IPR023404. rSAM_horseshoe.
[Graphical view]
PfamiPF00583. Acetyltransf_1. 1 hit.
PF04055. Radical_SAM. 1 hit.
PF16199. Radical_SAM_C. 1 hit.
[Graphical view]
PIRSFiPIRSF005669. Hist_AcTrfase_ELP3. 1 hit.
SMARTiSM00729. Elp3. 1 hit.
[Graphical view]
SUPFAMiSSF55729. SSF55729. 1 hit.
TIGRFAMsiTIGR01211. ELP3. 1 hit.
PROSITEiPS51186. GNAT. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiELP3_HUMAN
AccessioniPrimary (citable) accession number: Q9H9T3
Secondary accession number(s): B4DE19
, B4DIG1, E2QRI5, Q53G84, Q6AWB0, Q9BVF7, Q9NVZ1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: April 17, 2007
Last modified: November 2, 2016
This is version 139 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.