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Protein

Elongator complex protein 3

Gene

ELP3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 similarity5 Publications

Catalytic activityi

Acetyl-CoA + [protein]-L-lysine = CoA + [protein]-N6-acetyl-L-lysine.

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 by RNA polymerase II Source: UniProtKB
  • transcription elongation from RNA polymerase II promoter Source: BHF-UCL

Keywordsi

Molecular functionAcyltransferase, Transferase
Biological processNeurogenesis, Transcription, Transcription regulation
LigandIron, Iron-sulfur, Metal-binding, S-adenosyl-L-methionine

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000134014.16
HGNCiHGNC:20696 ELP3
MIMi612722 gene
neXtProtiNX_Q9H9T3

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

ELP3 genetic variations may be associated with an increased risk for neurodegeneration and motor neuron diseases.1 Publication

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

CarbonylDBiQ9H9T3
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 ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6. 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 ELP1 (PubMed:11818576, PubMed:19185337). Interacts with alpha-tubulin (PubMed:19185337).4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ELP1O951638EBI-355217,EBI-347559

Protein-protein interaction databases

BioGridi120444, 46 interactors
CORUMiQ9H9T3
DIPiDIP-53227N
IntActiQ9H9T3, 21 interactors
MINTiQ9H9T3
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

Phylogenomic databases

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

Family and domain databases

Gene3Di3.80.30.20, 1 hit
InterProiView protein in InterPro
IPR016181 Acyl_CoA_acyltransferase
IPR034687 ELP3-like
IPR006638 Elp3/MiaB/NifB
IPR000182 GNAT_dom
IPR032432 Radical_SAM_C
IPR007197 rSAM
IPR023404 rSAM_horseshoe
PANTHERiPTHR11135:SF0 PTHR11135:SF0, 1 hit
PfamiView protein in Pfam
PF00583 Acetyltransf_1, 1 hit
PF04055 Radical_SAM, 1 hit
PF16199 Radical_SAM_C, 1 hit
PIRSFiPIRSF005669 Hist_AcTrfase_ELP3, 1 hit
SFLDiSFLDF00344 ELP3-like, 1 hit
SMARTiView protein in SMART
SM00729 Elp3, 1 hit
SUPFAMiSSF55729 SSF55729, 1 hit
TIGRFAMsiTIGR01211 ELP3, 1 hit
PROSITEiView protein in PROSITE
PS51186 GNAT, 1 hit

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

Similar proteinsi

Entry informationi

Entry nameiELP3_HUMAN
AccessioniPrimary (citable) accession number: Q9H9T3
Secondary accession number(s): B4DE19
, B4DIG1, E2QRI5, Q53G84, Q6AWB0, Q9BVF7, Q9NVZ1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: April 17, 2007
Last modified: May 23, 2018
This is version 153 of the entry and version 2 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

Complete proteome, Reference proteome

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