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Protein

RNA polymerase II elongation factor ELL3

Gene

ELL3

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

Functioni

Enhancer-binding elongation factor that specifically binds enhancers in embryonic stem cells (ES cells), marks them, and is required for their future activation during stem cell specification. Does not only bind to enhancer regions of active genes, but also marks the enhancers that are in a poised or inactive state in ES cells and is required for establishing proper RNA polymerase II occupancy at developmentally regulated genes in a cohesin-dependent manner. Probably required for priming developmentally regulated genes for later recruitment of the super elongation complex (SEC), for transcriptional activation during differentiation. Required for recruitment of P-TEFb within SEC during differentiation. Probably preloaded on germ cell chromatin, suggesting that it may prime gene activation by marking enhancers as early as in the germ cells. Promoting epithelial-mesenchymal transition (EMT) (By similarity). Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968).By similarity2 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-6807505 RNA polymerase II transcribes snRNA genes

Names & Taxonomyi

Protein namesi
Recommended name:
RNA polymerase II elongation factor ELL3
Gene namesi
Name:ELL3
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000128886.11
HGNCiHGNC:23113 ELL3
MIMi609885 gene
neXtProtiNX_Q9HB65

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

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi80237
PharmGKBiPA128394728

Polymorphism and mutation databases

BioMutaiELL3
DMDMi48428154

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001467361 – 397RNA polymerase II elongation factor ELL3Add BLAST397

Proteomic databases

EPDiQ9HB65
MaxQBiQ9HB65
PaxDbiQ9HB65
PeptideAtlasiQ9HB65
PRIDEiQ9HB65
ProteomicsDBi81498

PTM databases

PhosphoSitePlusiQ9HB65

Expressioni

Tissue specificityi

Testis specific.1 Publication

Gene expression databases

BgeeiENSG00000128886 Expressed in 92 organ(s), highest expression level in testis
CleanExiHS_ELL3
ExpressionAtlasiQ9HB65 baseline and differential
GenevisibleiQ9HB65 HS

Organism-specific databases

HPAiHPA028938

Interactioni

Subunit structurei

Interacts with AFF4 (By similarity). Component of the super elongation complex (SEC), at least composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3). Component of the little elongation complex (LEC), at least composed of ELL (ELL, ELL2 or ELL3), ZC3H8, ICE1 and ICE2.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
EAF1Q96JC93EBI-715224,EBI-769261

Protein-protein interaction databases

BioGridi123198, 17 interactors
CORUMiQ9HB65
IntActiQ9HB65, 7 interactors
STRINGi9606.ENSP00000320346

Structurei

3D structure databases

ProteinModelPortaliQ9HB65
SMRiQ9HB65
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ELL/occludin family.Curated

Phylogenomic databases

eggNOGiKOG4796 Eukaryota
ENOG410ZNGU LUCA
GeneTreeiENSGT00550000074378
HOGENOMiHOG000231840
HOVERGENiHBG051462
InParanoidiQ9HB65
KOiK15183
OMAiHAYEQDF
OrthoDBiEOG091G043D
PhylomeDBiQ9HB65
TreeFamiTF337345

Family and domain databases

InterProiView protein in InterPro
IPR031176 ELL/occludin
IPR031175 ELL3
IPR019464 ELL_N
IPR010844 Occludin_ELL
PANTHERiPTHR23288 PTHR23288, 1 hit
PTHR23288:SF18 PTHR23288:SF18, 1 hit
PfamiView protein in Pfam
PF10390 ELL, 1 hit
PF07303 Occludin_ELL, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9HB65-1) [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
MEELQEPLRG QLRLCFTQAA RTSLLLLRLN DAALRALQEC QRQQVRPVIA
60 70 80 90 100
FQGHRGYLRL PGPGWSCLFS FIVSQCCQEG AGGSLDLVCQ RFLRSGPNSL
110 120 130 140 150
HCLGSLRERL IIWAAMDSIP APSSVQGHNL TEDARHPESW QNTGGYSEGD
160 170 180 190 200
AVSQPQMALE EVSVSDPLAS NQGQSLPGSS REHMAQWEVR SQTHVPNREP
210 220 230 240 250
VQALPSSASR KRLDKKRSVP VATVELEEKR FRTLPLVPSP LQGLTNQDLQ
260 270 280 290 300
EGEDWEQEDE DMDPRLEHSS SVQEDSESPS PEDIPDYLLQ YRAIHSAEQQ
310 320 330 340 350
HAYEQDFETD YAEYRILHAR VGTASQRFIE LGAEIKRVRR GTPEYKVLED
360 370 380 390
KIIQEYKKFR KQYPSYREEK RRCEYLHQKL SHIKGLILEF EEKNRGS
Length:397
Mass (Da):45,361
Last modified:June 7, 2004 - v2
Checksum:i9DC16B3D6E184FA7
GO
Isoform 2 (identifier: Q9HB65-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-56: MEELQEPLRGQLRLCFTQAARTSLLLLRLNDAALRALQECQRQQVRPVIAFQGHRG → MGLTVSFHPQ

Note: No experimental confirmation available.
Show »
Length:351
Mass (Da):40,033
Checksum:i599EC16BD47AC009
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JHD8C9JHD8_HUMAN
RNA polymerase II elongation factor...
ELL3
206Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti5Q → H in AAG13463 (PubMed:10882741).Curated1
Sequence conflicti278S → P in BAG54320 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01899211Q → E. Corresponds to variant dbSNP:rs2277531Ensembl.1
Natural variantiVAR_053074140W → R. Corresponds to variant dbSNP:rs35454865Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0459371 – 56MEELQ…QGHRG → MGLTVSFHPQ in isoform 2. 1 PublicationAdd BLAST56

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF276512 mRNA Translation: AAG13463.1
AK026290 mRNA Translation: BAB15432.1
AK057528 mRNA Translation: BAG51928.1
AK126384 mRNA Translation: BAG54320.1
CR457358 mRNA Translation: CAG33639.1
AC018512 Genomic DNA No translation available.
CH471082 Genomic DNA Translation: EAW77238.1
BC006548 mRNA Translation: AAH06548.1
BC019293 mRNA Translation: AAH19293.1
CCDSiCCDS10102.1 [Q9HB65-1]
RefSeqiNP_079441.1, NM_025165.2 [Q9HB65-1]
UniGeneiHs.706346

Genome annotation databases

EnsembliENST00000319359; ENSP00000320346; ENSG00000128886 [Q9HB65-1]
GeneIDi80237
KEGGihsa:80237
UCSCiuc001zsw.2 human [Q9HB65-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF276512 mRNA Translation: AAG13463.1
AK026290 mRNA Translation: BAB15432.1
AK057528 mRNA Translation: BAG51928.1
AK126384 mRNA Translation: BAG54320.1
CR457358 mRNA Translation: CAG33639.1
AC018512 Genomic DNA No translation available.
CH471082 Genomic DNA Translation: EAW77238.1
BC006548 mRNA Translation: AAH06548.1
BC019293 mRNA Translation: AAH19293.1
CCDSiCCDS10102.1 [Q9HB65-1]
RefSeqiNP_079441.1, NM_025165.2 [Q9HB65-1]
UniGeneiHs.706346

3D structure databases

ProteinModelPortaliQ9HB65
SMRiQ9HB65
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123198, 17 interactors
CORUMiQ9HB65
IntActiQ9HB65, 7 interactors
STRINGi9606.ENSP00000320346

PTM databases

PhosphoSitePlusiQ9HB65

Polymorphism and mutation databases

BioMutaiELL3
DMDMi48428154

Proteomic databases

EPDiQ9HB65
MaxQBiQ9HB65
PaxDbiQ9HB65
PeptideAtlasiQ9HB65
PRIDEiQ9HB65
ProteomicsDBi81498

Protocols and materials databases

DNASUi80237
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000319359; ENSP00000320346; ENSG00000128886 [Q9HB65-1]
GeneIDi80237
KEGGihsa:80237
UCSCiuc001zsw.2 human [Q9HB65-1]

Organism-specific databases

CTDi80237
DisGeNETi80237
EuPathDBiHostDB:ENSG00000128886.11
GeneCardsiELL3
HGNCiHGNC:23113 ELL3
HPAiHPA028938
MIMi609885 gene
neXtProtiNX_Q9HB65
PharmGKBiPA128394728
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4796 Eukaryota
ENOG410ZNGU LUCA
GeneTreeiENSGT00550000074378
HOGENOMiHOG000231840
HOVERGENiHBG051462
InParanoidiQ9HB65
KOiK15183
OMAiHAYEQDF
OrthoDBiEOG091G043D
PhylomeDBiQ9HB65
TreeFamiTF337345

Enzyme and pathway databases

ReactomeiR-HSA-6807505 RNA polymerase II transcribes snRNA genes

Miscellaneous databases

ChiTaRSiELL3 human
GenomeRNAii80237
PROiPR:Q9HB65
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000128886 Expressed in 92 organ(s), highest expression level in testis
CleanExiHS_ELL3
ExpressionAtlasiQ9HB65 baseline and differential
GenevisibleiQ9HB65 HS

Family and domain databases

InterProiView protein in InterPro
IPR031176 ELL/occludin
IPR031175 ELL3
IPR019464 ELL_N
IPR010844 Occludin_ELL
PANTHERiPTHR23288 PTHR23288, 1 hit
PTHR23288:SF18 PTHR23288:SF18, 1 hit
PfamiView protein in Pfam
PF10390 ELL, 1 hit
PF07303 Occludin_ELL, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiELL3_HUMAN
AccessioniPrimary (citable) accession number: Q9HB65
Secondary accession number(s): B3KQ66
, B3KX08, Q6I9Z7, Q9H634
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: June 7, 2004
Last modified: September 12, 2018
This is version 127 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

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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