UniProtKB - Q96EB1 (ELP4_HUMAN)
(max 400 entries)x
Your basket is currently empty. i
Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)
Protein
Elongator complex protein 4
Gene
ELP4
Organism
Homo sapiens (Human)
Status
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
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
Keywordsi
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
Reactomei | R-HSA-3214847 HATs acetylate histones |
Names & Taxonomyi
Protein namesi | Recommended name: Elongator complex protein 4Short name: hELP4 Alternative name(s): PAX6 neighbor gene protein |
Gene namesi | Name:ELP4 Synonyms:C11orf19, PAXNEB |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000109911.17 |
HGNCi | HGNC:1171 ELP4 |
MIMi | 606985 gene |
neXtProti | NX_Q96EB1 |
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:617141Organism-specific databases
DisGeNETi | 26610 |
MalaCardsi | ELP4 |
MIMi | 617141 phenotype |
OpenTargetsi | ENSG00000109911 |
PharmGKBi | PA27764 |
Polymorphism and mutation databases
BioMutai | ELP4 |
DMDMi | 145558903 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000284004 | 1 – 424 | Elongator complex protein 4Add BLAST | 424 |
Proteomic databases
EPDi | Q96EB1 |
MaxQBi | Q96EB1 |
PaxDbi | Q96EB1 |
PeptideAtlasi | Q96EB1 |
PRIDEi | Q96EB1 |
PTM databases
iPTMneti | Q96EB1 |
PhosphoSitePlusi | Q96EB1 |
Expressioni
Tissue specificityi
Widely expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000109911 |
CleanExi | HS_ELP4 |
ExpressionAtlasi | Q96EB1 baseline and differential |
Genevisiblei | Q96EB1 HS |
Organism-specific databases
HPAi | HPA038572 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
With | Entry | #Exp. | IntAct | Notes |
---|---|---|---|---|
ELP5 | Q8TE02 | 4 | EBI-3951755,EBI-946189 |
Protein-protein interaction databases
BioGridi | 11776417 interactors. |
CORUMi | Q96EB1 |
IntActi | Q96EB1 7 interactors. |
MINTi | Q96EB1 |
STRINGi | 9606.ENSP00000298937 |
Family & Domainsi
Sequence similaritiesi
Belongs to the ELP4 family.Curated
Phylogenomic databases
eggNOGi | KOG3949 Eukaryota ENOG410XP5H LUCA |
GeneTreei | ENSGT00390000001443 |
HOGENOMi | HOG000007516 |
HOVERGENi | HBG104285 |
InParanoidi | Q96EB1 |
KOi | K11375 |
PhylomeDBi | Q96EB1 |
TreeFami | TF320797 |
Family and domain databases
InterProi | View protein in InterPro IPR008728 Elongator_complex_protein_4 |
PANTHERi | PTHR12896 PTHR12896, 1 hit |
Pfami | View protein in Pfam PF05625 PAXNEB, 1 hit |
s (3)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative 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.
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_053881 | 300 | I → L. Corresponds to variant dbSNP:rs34804357Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054128 | 171 | E → EQ in isoform 3. 1 Publication | 1 | |
Alternative sequenceiVSP_024409 | 382 – 424 | RLHLP…KHLDF → AGVQWHDLGSRRPRLLGSGG SPASASLVAGITGAHHHAQL IFVFLVEMGFHHVGQAGLEL LTSGDSSASASQSAGIAGMS YRARPRALYFKENKSKVGAR QLLETREEHLSSRLLILTQA ERLCMGRRFFTAFHIFNELP CKGDCICLQTCQTQ in isoform 2. 1 PublicationAdd BLAST | 43 | |
Alternative sequenceiVSP_054129 | 382 – 424 | RLHLP…KHLDF → WVQDNYLRQERNIYPPGFSY LLKQKDSAWGEGSLQHSTFL MSFLAKATAFASRLVRHSEP LKQNGSGRIRQAAGPRLWHD GRRQEAPGLLGIPP in isoform 3. 1 PublicationAdd BLAST | 43 |
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 |
CCDSi | CCDS73271.1 [Q96EB1-3] CCDS73272.1 [Q96EB1-2] CCDS7875.2 [Q96EB1-1] |
RefSeqi | NP_001275654.1, NM_001288725.1 [Q96EB1-3] NP_001275655.1, NM_001288726.1 NP_061913.3, NM_019040.4 [Q96EB1-1] |
UniGenei | Hs.175534 Hs.614864 |
Genome annotation databases
Ensembli | ENST00000379163; ENSP00000368461; ENSG00000109911 [Q96EB1-3] ENST00000640961; ENSP00000492152; ENSG00000109911 [Q96EB1-1] |
GeneIDi | 26610 |
KEGGi | hsa:26610 |
UCSCi | uc001mtb.5 human [Q96EB1-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | ELP4_HUMAN | |
Accessioni | Q96EB1Primary (citable) accession number: Q96EB1 Secondary accession number(s): B4E3W0 Q9NX11 | |
Entry historyi | Integrated 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 statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |