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UniProtKB - Q96EB1 (ELP4_HUMAN)

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Protein

Elongator complex protein 4

Gene

ELP4

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

Caution

GO - Molecular functioni

  • phosphorylase kinase regulator activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • histone H3 acetylation Source: BHF-UCL
  • histone H4 acetylation Source: BHF-UCL
  • regulation of transcription by RNA polymerase II Source: UniProtKB
  • transcription elongation from RNA polymerase II promoter Source: BHF-UCL
  • tRNA wobble uridine modification Source: InterPro
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processTranscription, Transcription regulation

Enzyme and pathway databases

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000109911.17
HGNCiHGNC:1171 ELP4
MIMi606985 gene
neXtProtiNX_Q96EB1

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

Aniridia 2 (AN2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. A disease-causing mutation is located in intron 9 of ELP4. The mutation does not alter normal ELP4 expression and function, but disrupts a long-range cis-regulatory element of PAX6 expression, known as SIMO. SIMO is contained within ELP4 intron 9 and located 150 kb downstream of PAX6.1 Publication
Disease descriptionA form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.
See also OMIM:617141

Organism-specific databases

DisGeNETi26610
MalaCardsiELP4
MIMi617141 phenotype
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 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

BioGridi11776417 interactors.
CORUMiQ96EB1
IntActiQ96EB1 7 interactors.
MINTiQ96EB1
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

InterProiView protein in InterPro
IPR008728 Elongator_complex_protein_4
PANTHERiPTHR12896 PTHR12896, 1 hit
PfamiView protein in Pfam
PF05625 PAXNEB, 1 hit

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 dbSNP:rs34804357Ensembl.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 No translation available.
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

EnsembliENST00000379163; ENSP00000368461; ENSG00000109911 [Q96EB1-3]
ENST00000640961; ENSP00000492152; ENSG00000109911 [Q96EB1-1]
GeneIDi26610
KEGGihsa:26610
UCSCiuc001mtb.5 human [Q96EB1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiELP4_HUMAN
AccessioniPrimary (citable) accession number: Q96EB1
Secondary accession number(s): B4E3W0
, E7EPZ6, Q9H4E8, Q9NX11
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: April 17, 2007
Last modified: March 28, 2018
This is version 126 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