UniProtKB - Q9HB65 (ELL3_HUMAN)
RNA polymerase II elongation factor ELL3
ELL3
Functioni
GO - Molecular functioni
- cis-regulatory region sequence-specific DNA binding Source: UniProtKB
GO - Biological processi
- DNA-templated transcription, elongation Source: UniProtKB
- negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator Source: Ensembl
- positive regulation of DNA-templated transcription, elongation Source: UniProtKB
- positive regulation of neural precursor cell proliferation Source: Ensembl
- positive regulation of neurogenesis Source: Ensembl
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- regulation of epithelial to mesenchymal transition Source: UniProtKB
- snRNA transcription by RNA polymerase II Source: UniProtKB
- spermatogenesis Source: UniProtKB
- stem cell differentiation Source: UniProtKB
- transcription by RNA polymerase II Source: UniProtKB
- transcription elongation from RNA polymerase II promoter Source: UniProtKB
Keywordsi
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q9HB65 |
Reactomei | R-HSA-6807505, RNA polymerase II transcribes snRNA genes |
Names & Taxonomyi
Protein namesi | Recommended name: RNA polymerase II elongation factor ELL3 |
Gene namesi | Name:ELL3 |
Organismi | Homo sapiens (Human)Imported |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:23113, ELL3 |
MIMi | 609885, gene |
neXtProti | NX_Q9HB65 |
VEuPathDBi | HostDB:ENSG00000128886.11 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Nucleus
- nucleolus Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
- transcription elongation factor complex Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 80237 |
PharmGKBi | PA128394728 |
Miscellaneous databases
Pharosi | Q9HB65, Tbio |
Genetic variation databases
BioMutai | ELL3 |
DMDMi | 48428154 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000146736 | 1 – 397 | RNA polymerase II elongation factor ELL3Add BLAST | 397 |
Proteomic databases
EPDi | Q9HB65 |
jPOSTi | Q9HB65 |
MassIVEi | Q9HB65 |
MaxQBi | Q9HB65 |
PaxDbi | Q9HB65 |
PeptideAtlasi | Q9HB65 |
PRIDEi | Q9HB65 |
ProteomicsDBi | 81498 [Q9HB65-1] |
PTM databases
iPTMneti | Q9HB65 |
PhosphoSitePlusi | Q9HB65 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000128886, Expressed in tonsil and 116 other tissues |
ExpressionAtlasi | Q9HB65, baseline and differential |
Genevisiblei | Q9HB65, HS |
Organism-specific databases
HPAi | ENSG00000128886, Tissue enhanced (intestine, lymphoid tissue) |
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 PublicationBinary interactionsi
Q9HB65
With | #Exp. | IntAct |
---|---|---|
EAF1 [Q96JC9] | 5 | EBI-715224,EBI-769261 |
Protein-protein interaction databases
BioGRIDi | 123198, 17 interactors |
CORUMi | Q9HB65 |
IntActi | Q9HB65, 18 interactors |
STRINGi | 9606.ENSP00000320346 |
Miscellaneous databases
RNActi | Q9HB65, protein |
Family & Domainsi
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG4796, Eukaryota |
GeneTreei | ENSGT00940000161615 |
HOGENOMi | CLU_692530_0_0_1 |
InParanoidi | Q9HB65 |
OMAi | HAYEQDF |
OrthoDBi | 335949at2759 |
PhylomeDBi | Q9HB65 |
TreeFami | TF337345 |
Family and domain databases
InterProi | View protein in InterPro IPR031176, ELL/occludin IPR031175, ELL3 IPR019464, ELL_N IPR010844, Occludin_ELL |
PANTHERi | PTHR23288, PTHR23288, 1 hit PTHR23288:SF18, PTHR23288:SF18, 1 hit |
Pfami | View protein in Pfam PF10390, ELL, 1 hit PF07303, Occludin_ELL, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketC9JHD8 | C9JHD8_HUMAN | RNA polymerase II elongation factor... | ELL3 | 206 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 5 | Q → H in AAG13463 (PubMed:10882741).Curated | 1 | |
Sequence conflicti | 278 | S → P in BAG54320 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_018992 | 11 | Q → E. Corresponds to variant dbSNP:rs2277531Ensembl. | 1 | |
Natural variantiVAR_053074 | 140 | W → R. Corresponds to variant dbSNP:rs35454865Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045937 | 1 – 56 | MEELQ…QGHRG → MGLTVSFHPQ in isoform 2. 1 PublicationAdd BLAST | 56 |
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 |
CCDSi | CCDS10102.1 [Q9HB65-1] |
RefSeqi | NP_079441.1, NM_025165.2 [Q9HB65-1] |
Genome annotation databases
Ensembli | ENST00000319359; ENSP00000320346; ENSG00000128886 [Q9HB65-1] |
GeneIDi | 80237 |
KEGGi | hsa:80237 |
UCSCi | uc001zsw.2, human [Q9HB65-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS10102.1 [Q9HB65-1] |
RefSeqi | NP_079441.1, NM_025165.2 [Q9HB65-1] |
3D structure databases
SMRi | Q9HB65 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 123198, 17 interactors |
CORUMi | Q9HB65 |
IntActi | Q9HB65, 18 interactors |
STRINGi | 9606.ENSP00000320346 |
PTM databases
iPTMneti | Q9HB65 |
PhosphoSitePlusi | Q9HB65 |
Genetic variation databases
BioMutai | ELL3 |
DMDMi | 48428154 |
Proteomic databases
EPDi | Q9HB65 |
jPOSTi | Q9HB65 |
MassIVEi | Q9HB65 |
MaxQBi | Q9HB65 |
PaxDbi | Q9HB65 |
PeptideAtlasi | Q9HB65 |
PRIDEi | Q9HB65 |
ProteomicsDBi | 81498 [Q9HB65-1] |
Protocols and materials databases
Antibodypediai | 24110, 123 antibodies |
DNASUi | 80237 |
Genome annotation databases
Ensembli | ENST00000319359; ENSP00000320346; ENSG00000128886 [Q9HB65-1] |
GeneIDi | 80237 |
KEGGi | hsa:80237 |
UCSCi | uc001zsw.2, human [Q9HB65-1] |
Organism-specific databases
CTDi | 80237 |
DisGeNETi | 80237 |
GeneCardsi | ELL3 |
HGNCi | HGNC:23113, ELL3 |
HPAi | ENSG00000128886, Tissue enhanced (intestine, lymphoid tissue) |
MIMi | 609885, gene |
neXtProti | NX_Q9HB65 |
PharmGKBi | PA128394728 |
VEuPathDBi | HostDB:ENSG00000128886.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4796, Eukaryota |
GeneTreei | ENSGT00940000161615 |
HOGENOMi | CLU_692530_0_0_1 |
InParanoidi | Q9HB65 |
OMAi | HAYEQDF |
OrthoDBi | 335949at2759 |
PhylomeDBi | Q9HB65 |
TreeFami | TF337345 |
Enzyme and pathway databases
PathwayCommonsi | Q9HB65 |
Reactomei | R-HSA-6807505, RNA polymerase II transcribes snRNA genes |
Miscellaneous databases
BioGRID-ORCSi | 80237, 19 hits in 879 CRISPR screens |
GenomeRNAii | 80237 |
Pharosi | Q9HB65, Tbio |
PROi | PR:Q9HB65 |
RNActi | Q9HB65, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000128886, Expressed in tonsil and 116 other tissues |
ExpressionAtlasi | Q9HB65, baseline and differential |
Genevisiblei | Q9HB65, HS |
Family and domain databases
InterProi | View protein in InterPro IPR031176, ELL/occludin IPR031175, ELL3 IPR019464, ELL_N IPR010844, Occludin_ELL |
PANTHERi | PTHR23288, PTHR23288, 1 hit PTHR23288:SF18, PTHR23288:SF18, 1 hit |
Pfami | View protein in Pfam PF10390, ELL, 1 hit PF07303, Occludin_ELL, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ELL3_HUMAN | |
Accessioni | Q9HB65Primary (citable) accession number: Q9HB65 Secondary accession number(s): B3KQ66 Q9H634 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 7, 2004 |
Last sequence update: | June 7, 2004 | |
Last modified: | February 10, 2021 | |
This is version 144 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families