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Protein

Elongator complex protein 4

Gene

ELP4

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

Functioni

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 H4.3 Publications

GO - Molecular functioni

  • phosphorylase kinase regulator activity Source: UniProtKB

GO - Biological processi

  • histone H3 acetylation Source: BHF-UCL
  • histone H4 acetylation Source: BHF-UCL
  • regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • transcription elongation from RNA polymerase II promoter Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000109911-MONOMER.
ReactomeiR-HSA-3214847. HATs acetylate histones.

Names & Taxonomyi

Protein namesi
Recommended name:
Elongator complex protein 4
Short name:
hELP4
Alternative name(s):
PAX6 neighbor gene protein
Gene namesi
Name:ELP4
Synonyms:C11orf19, PAXNEB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:1171. ELP4.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi26610.
MalaCardsiELP4.
OpenTargetsiENSG00000109911.
PharmGKBiPA27764.

Polymorphism and mutation databases

BioMutaiELP4.
DMDMi145558903.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002840041 – 424Elongator complex protein 4Add BLAST424

Proteomic databases

EPDiQ96EB1.
MaxQBiQ96EB1.
PaxDbiQ96EB1.
PeptideAtlasiQ96EB1.
PRIDEiQ96EB1.

PTM databases

iPTMnetiQ96EB1.
PhosphoSitePlusiQ96EB1.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000109911.
CleanExiHS_ELP4.
ExpressionAtlasiQ96EB1. baseline and differential.
GenevisibleiQ96EB1. HS.

Organism-specific databases

HPAiHPA038572.
HPA038573.

Interactioni

Subunit structurei

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.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ELP5Q8TE024EBI-3951755,EBI-946189

Protein-protein interaction databases

BioGridi117764. 15 interactors.
IntActiQ96EB1. 7 interactors.
MINTiMINT-3052308.
STRINGi9606.ENSP00000298937.

Structurei

3D structure databases

ProteinModelPortaliQ96EB1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ELP4 family.Curated

Phylogenomic databases

eggNOGiKOG3949. Eukaryota.
ENOG410XP5H. LUCA.
GeneTreeiENSGT00390000001443.
HOGENOMiHOG000007516.
HOVERGENiHBG104285.
InParanoidiQ96EB1.
KOiK11375.
PhylomeDBiQ96EB1.
TreeFamiTF320797.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR008728. Elongator_complex_protein_4.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR12896. PTHR12896. 1 hit.
PfamiPF05625. PAXNEB. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96EB1-1) [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
MAAVATCGSV AASTGSAVAT ASKSNVTSFQ RRGPRASVTN DSGPRLVSIA
60 70 80 90 100
GTRPSVRNGQ LLVSTGLPAL DQLLGGGLAV GTVLLIEEDK YNIYSPLLFK
110 120 130 140 150
YFLAEGIVNG HTLLVASAKE DPANILQELP APLLDDKCKK EFDEDVYNHK
160 170 180 190 200
TPESNIKMKI AWRYQLLPKM EIGPVSSSRF GHYYDASKRM PQELIEASNW
210 220 230 240 250
HGFFLPEKIS STLKVEPCSL TPGYTKLLQF IQNIIYEEGF DGSNPQKKQR
260 270 280 290 300
NILRIGIQNL GSPLWGDDIC CAENGGNSHS LTKFLYVLRG LLRTSLSACI
310 320 330 340 350
ITMPTHLIQN KAIIARVTTL SDVVVGLESF IGSERETNPL YKDYHGLIHI
360 370 380 390 400
RQIPRLNNLI CDESDVKDLA FKLKRKLFTI ERLHLPPDLS DTVSRSSKMD
410 420
LAESAKRLGP GCGMMAGGKK HLDF
Length:424
Mass (Da):46,588
Last modified:April 17, 2007 - v2
Checksum:iA044C964F7C91E73
GO
Isoform 2 (identifier: Q96EB1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     382-424: RLHLPPDLSD...MAGGKKHLDF → AGVQWHDLGS...CICLQTCQTQ

Show »
Length:535
Mass (Da):58,713
Checksum:i86E6DD3B545E96D4
GO
Isoform 3 (identifier: Q96EB1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     171-171: E → EQ
     382-424: RLHLPPDLSD...MAGGKKHLDF → WVQDNYLRQE...EAPGLLGIPP

Note: No experimental confirmation available.
Show »
Length:476
Mass (Da):52,765
Checksum:iBFF62363BDE99D41
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053881300I → L.Corresponds to variant rs34804357dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_054128171E → EQ in isoform 3. 1 Publication1
Alternative sequenceiVSP_024409382 – 424RLHLP…KHLDF → AGVQWHDLGSRRPRLLGSGG SPASASLVAGITGAHHHAQL IFVFLVEMGFHHVGQAGLEL LTSGDSSASASQSAGIAGMS YRARPRALYFKENKSKVGAR QLLETREEHLSSRLLILTQA ERLCMGRRFFTAFHIFNELP CKGDCICLQTCQTQ in isoform 2. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_054129382 – 424RLHLP…KHLDF → WVQDNYLRQERNIYPPGFSY LLKQKDSAWGEGSLQHSTFL MSFLAKATAFASRLVRHSEP LKQNGSGRIRQAAGPRLWHD GRRQEAPGLLGIPP in isoform 3. 1 PublicationAdd BLAST43

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136677 mRNA. Translation: CAB66612.1.
AK000505 mRNA. Translation: BAA91212.1.
AK304885 mRNA. Translation: BAG65622.1.
AC108456 Genomic DNA. No translation available.
AC131571 Genomic DNA. No translation available.
Z83001 Genomic DNA. No translation available.
Z83306 Genomic DNA. No translation available.
Z83307 Genomic DNA. Translation: CAM13056.1.
BC012514 mRNA. Translation: AAH12514.1.
AJ276005 Genomic DNA. Translation: CAC08200.1.
CCDSiCCDS73271.1. [Q96EB1-3]
CCDS73272.1. [Q96EB1-2]
CCDS7875.2. [Q96EB1-1]
RefSeqiNP_001275654.1. NM_001288725.1. [Q96EB1-3]
NP_001275655.1. NM_001288726.1.
NP_061913.3. NM_019040.4. [Q96EB1-1]
UniGeneiHs.175534.
Hs.614864.

Genome annotation databases

EnsembliENST00000350638; ENSP00000298937; ENSG00000109911. [Q96EB1-1]
ENST00000379163; ENSP00000368461; ENSG00000109911. [Q96EB1-3]
GeneIDi26610.
KEGGihsa:26610.
UCSCiuc001mtb.5. human. [Q96EB1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136677 mRNA. Translation: CAB66612.1.
AK000505 mRNA. Translation: BAA91212.1.
AK304885 mRNA. Translation: BAG65622.1.
AC108456 Genomic DNA. No translation available.
AC131571 Genomic DNA. No translation available.
Z83001 Genomic DNA. No translation available.
Z83306 Genomic DNA. No translation available.
Z83307 Genomic DNA. Translation: CAM13056.1.
BC012514 mRNA. Translation: AAH12514.1.
AJ276005 Genomic DNA. Translation: CAC08200.1.
CCDSiCCDS73271.1. [Q96EB1-3]
CCDS73272.1. [Q96EB1-2]
CCDS7875.2. [Q96EB1-1]
RefSeqiNP_001275654.1. NM_001288725.1. [Q96EB1-3]
NP_001275655.1. NM_001288726.1.
NP_061913.3. NM_019040.4. [Q96EB1-1]
UniGeneiHs.175534.
Hs.614864.

3D structure databases

ProteinModelPortaliQ96EB1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117764. 15 interactors.
IntActiQ96EB1. 7 interactors.
MINTiMINT-3052308.
STRINGi9606.ENSP00000298937.

PTM databases

iPTMnetiQ96EB1.
PhosphoSitePlusiQ96EB1.

Polymorphism and mutation databases

BioMutaiELP4.
DMDMi145558903.

Proteomic databases

EPDiQ96EB1.
MaxQBiQ96EB1.
PaxDbiQ96EB1.
PeptideAtlasiQ96EB1.
PRIDEiQ96EB1.

Protocols and materials databases

DNASUi26610.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000350638; ENSP00000298937; ENSG00000109911. [Q96EB1-1]
ENST00000379163; ENSP00000368461; ENSG00000109911. [Q96EB1-3]
GeneIDi26610.
KEGGihsa:26610.
UCSCiuc001mtb.5. human. [Q96EB1-1]

Organism-specific databases

CTDi26610.
DisGeNETi26610.
GeneCardsiELP4.
H-InvDBHIX0009527.
HGNCiHGNC:1171. ELP4.
HPAiHPA038572.
HPA038573.
MalaCardsiELP4.
MIMi606985. gene.
neXtProtiNX_Q96EB1.
OpenTargetsiENSG00000109911.
PharmGKBiPA27764.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3949. Eukaryota.
ENOG410XP5H. LUCA.
GeneTreeiENSGT00390000001443.
HOGENOMiHOG000007516.
HOVERGENiHBG104285.
InParanoidiQ96EB1.
KOiK11375.
PhylomeDBiQ96EB1.
TreeFamiTF320797.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000109911-MONOMER.
ReactomeiR-HSA-3214847. HATs acetylate histones.

Miscellaneous databases

ChiTaRSiELP4. human.
GeneWikiiELP4.
GenomeRNAii26610.
PROiQ96EB1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000109911.
CleanExiHS_ELP4.
ExpressionAtlasiQ96EB1. baseline and differential.
GenevisibleiQ96EB1. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR008728. Elongator_complex_protein_4.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR12896. PTHR12896. 1 hit.
PfamiPF05625. PAXNEB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiELP4_HUMAN
AccessioniPrimary (citable) accession number: Q96EB1
Secondary accession number(s): B4E3W0
, E7EPZ6, Q9H4E8, Q9NX11
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: April 17, 2007
Last modified: November 2, 2016
This is version 116 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 11
    Human chromosome 11: 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. 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.