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Protein

RNA polymerase II elongation factor ELL2

Gene

ELL2

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

Functioni

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). Plays a role in immunoglobulin secretion in plasma cells: directs efficient alternative mRNA processing, influencing both proximal poly(A) site choice and exon skipping, as well as immunoglobulin heavy chain (IgH) alternative processing. Probably acts by regulating histone modifications accompanying transition from membrane-specific to secretory IgH mRNA expression.4 Publications

GO - Biological processi

  • regulation of transcription, DNA-templated Source: UniProtKB-KW
  • snRNA transcription from RNA polymerase II promoter Source: UniProtKB
  • transcription elongation from RNA polymerase II promoter Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000118985-MONOMER.
ReactomeiR-HSA-6807505. RNA polymerase II transcribes snRNA genes.

Names & Taxonomyi

Protein namesi
Recommended name:
RNA polymerase II elongation factor ELL2
Gene namesi
Name:ELL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:17064. ELL2.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: HPA
  • cytoplasm Source: HPA
  • nucleoplasm Source: HPA
  • transcription elongation factor complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi22936.
OpenTargetsiENSG00000118985.
PharmGKBiPA134935340.

Polymorphism and mutation databases

BioMutaiELL2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001467351 – 640RNA polymerase II elongation factor ELL2Add BLAST640

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei503PhosphoserineCombined sources1
Modified residuei580PhosphoserineCombined sources1

Post-translational modificationi

Ubiquitinated by SIAH1, leading to its degradation by the proteaseome. Interaction with AFF4 stabilizeS ELL2 and prevent ELL2 ubiquitination.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiO00472.
MaxQBiO00472.
PaxDbiO00472.
PeptideAtlasiO00472.
PRIDEiO00472.

PTM databases

iPTMnetiO00472.
PhosphoSitePlusiO00472.

Expressioni

Gene expression databases

BgeeiENSG00000118985.
CleanExiHS_ELL2.
ExpressionAtlasiO00472. baseline and differential.
GenevisibleiO00472. HS.

Organism-specific databases

HPAiHPA035758.
HPA035759.

Interactioni

Subunit structurei

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. Interacts with AFF4; the interaction is direct and leads to stabilize ELL2 and prevent ELL2 ubiquitination. Interacts with EAF1 and EAF2.5 Publications

Protein-protein interaction databases

BioGridi116595. 28 interactors.
IntActiO00472. 27 interactors.
STRINGi9606.ENSP00000237853.

Structurei

Secondary structure

1640
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi206 – 216Combined sources11
Helixi221 – 231Combined sources11
Helixi235 – 248Combined sources14
Beta strandi249 – 252Combined sources4
Turni253 – 256Combined sources4
Beta strandi257 – 260Combined sources4
Helixi264 – 267Combined sources4
Helixi279 – 290Combined sources12

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2E5NNMR-A200-292[»]
ProteinModelPortaliO00472.
SMRiO00472.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO00472.

Family & Domainsi

Sequence similaritiesi

Belongs to the ELL/occludin family.Curated

Phylogenomic databases

eggNOGiKOG4796. Eukaryota.
ENOG410ZNGU. LUCA.
GeneTreeiENSGT00550000074378.
HOGENOMiHOG000112356.
HOVERGENiHBG005578.
InParanoidiO00472.
KOiK15183.
OMAiTIRKTHS.
OrthoDBiEOG091G043D.
PhylomeDBiO00472.
TreeFamiTF326161.

Family and domain databases

InterProiIPR031176. ELL/occludin.
IPR031179. ELL2.
IPR019464. ELL_N.
IPR010844. Occludin_ELL.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PANTHERiPTHR23288. PTHR23288. 1 hit.
PTHR23288:SF8. PTHR23288:SF8. 1 hit.
PfamiPF10390. ELL. 1 hit.
PF07303. Occludin_ELL. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: O00472-1) [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
MAAGGTGGLR EEQRYGLSCG RLGQDNITVL HVKLTETAIR ALETYQSHKN
60 70 80 90 100
LIPFRPSIQF QGLHGLVKIP KNDPLNEVHN FNFYLSNVGK DNPQGSFDCI
110 120 130 140 150
QQTFSSSGAS QLNCLGFIQD KITVCATNDS YQMTRERMTQ AEEESRNRST
160 170 180 190 200
KVIKPGGPYV GKRVQIRKAP QAVSDTVPER KRSTPMNPAN TIRKTHSSST
210 220 230 240 250
ISQRPYRDRV IHLLALKAYK KPELLARLQK DGVNQKDKNS LGAILQQVAN
260 270 280 290 300
LNSKDLSYTL KDYVFKELQR DWPGYSEIDR RSLESVLSRK LNPSQNAAGT
310 320 330 340 350
SRSESPVCSS RDAVSSPQKR LLDSEFIDPL MNKKARISHL TNRVPPTLNG
360 370 380 390 400
HLNPTSEKSA AGLPLPPAAA AIPTPPPLPS TYLPISHPPQ IVNSNSNSPS
410 420 430 440 450
TPEGRGTQDL PVDSFSQNDS IYEDQQDKYT SRTSLETLPP GSVLLKCPKP
460 470 480 490 500
MEENHSMSHK KSKKKSKKHK EKDQIKKHDI ETIEEKEEDL KREEEIAKLN
510 520 530 540 550
NSSPNSSGGV KEDCTASMEP SAIELPDYLI KYIAIVSYEQ RQNYKDDFNA
560 570 580 590 600
EYDEYRALHA RMETVARRFI KLDAQRKRLS PGSKEYQNVH EEVLQEYQKI
610 620 630 640
KQSSPNYHEE KYRCEYLHNK LAHIKRLIGE FDQQQAESWS
Length:640
Mass (Da):72,324
Last modified:July 28, 2009 - v2
Checksum:i96D6228AF868E6C9
GO
Isoform 2 (identifier: O00472-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     140-389: Missing.

Note: No experimental confirmation available.
Show »
Length:390
Mass (Da):44,696
Checksum:iC06A6FE25C02C6F5
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058406298A → T.2 PublicationsCorresponds to variant rs3815768dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_055476140 – 389Missing in isoform 2. 1 PublicationAdd BLAST250

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U88629 Genomic DNA. Translation: AAC51232.1.
AK297956 mRNA. Translation: BAG60269.1.
AC008592 Genomic DNA. No translation available.
BC028412 mRNA. Translation: AAH28412.1.
CCDSiCCDS4080.1. [O00472-1]
RefSeqiNP_036213.2. NM_012081.5. [O00472-1]
UniGeneiHs.192221.
Hs.708710.

Genome annotation databases

EnsembliENST00000237853; ENSP00000237853; ENSG00000118985. [O00472-1]
GeneIDi22936.
KEGGihsa:22936.
UCSCiuc003klr.4. human. [O00472-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U88629 Genomic DNA. Translation: AAC51232.1.
AK297956 mRNA. Translation: BAG60269.1.
AC008592 Genomic DNA. No translation available.
BC028412 mRNA. Translation: AAH28412.1.
CCDSiCCDS4080.1. [O00472-1]
RefSeqiNP_036213.2. NM_012081.5. [O00472-1]
UniGeneiHs.192221.
Hs.708710.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2E5NNMR-A200-292[»]
ProteinModelPortaliO00472.
SMRiO00472.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116595. 28 interactors.
IntActiO00472. 27 interactors.
STRINGi9606.ENSP00000237853.

PTM databases

iPTMnetiO00472.
PhosphoSitePlusiO00472.

Polymorphism and mutation databases

BioMutaiELL2.

Proteomic databases

EPDiO00472.
MaxQBiO00472.
PaxDbiO00472.
PeptideAtlasiO00472.
PRIDEiO00472.

Protocols and materials databases

DNASUi22936.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000237853; ENSP00000237853; ENSG00000118985. [O00472-1]
GeneIDi22936.
KEGGihsa:22936.
UCSCiuc003klr.4. human. [O00472-1]

Organism-specific databases

CTDi22936.
DisGeNETi22936.
GeneCardsiELL2.
H-InvDBHIX0005049.
HGNCiHGNC:17064. ELL2.
HPAiHPA035758.
HPA035759.
MIMi601874. gene.
neXtProtiNX_O00472.
OpenTargetsiENSG00000118985.
PharmGKBiPA134935340.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4796. Eukaryota.
ENOG410ZNGU. LUCA.
GeneTreeiENSGT00550000074378.
HOGENOMiHOG000112356.
HOVERGENiHBG005578.
InParanoidiO00472.
KOiK15183.
OMAiTIRKTHS.
OrthoDBiEOG091G043D.
PhylomeDBiO00472.
TreeFamiTF326161.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000118985-MONOMER.
ReactomeiR-HSA-6807505. RNA polymerase II transcribes snRNA genes.

Miscellaneous databases

ChiTaRSiELL2. human.
EvolutionaryTraceiO00472.
GenomeRNAii22936.
PROiO00472.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000118985.
CleanExiHS_ELL2.
ExpressionAtlasiO00472. baseline and differential.
GenevisibleiO00472. HS.

Family and domain databases

InterProiIPR031176. ELL/occludin.
IPR031179. ELL2.
IPR019464. ELL_N.
IPR010844. Occludin_ELL.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PANTHERiPTHR23288. PTHR23288. 1 hit.
PTHR23288:SF8. PTHR23288:SF8. 1 hit.
PfamiPF10390. ELL. 1 hit.
PF07303. Occludin_ELL. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiELL2_HUMAN
AccessioniPrimary (citable) accession number: O00472
Secondary accession number(s): B4DNK7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: July 28, 2009
Last modified: November 2, 2016
This is version 134 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.