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Protein

RNA polymerase II elongation factor ELL2

Gene

ELL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 by RNA polymerase II Source: UniProtKB
  • transcription elongation from RNA polymerase II promoter Source: ProtInc

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 ELL2
Gene namesi
Name:ELL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000118985.15
HGNCiHGNC:17064 ELL2
MIMi601874 gene
neXtProtiNX_O00472

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

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
ProteomicsDBi47920

PTM databases

iPTMnetiO00472
PhosphoSitePlusiO00472

Expressioni

Gene expression databases

BgeeiENSG00000118985
CleanExiHS_ELL2
ExpressionAtlasiO00472 baseline and differential
GenevisibleiO00472 HS

Organism-specific databases

HPAiHPA013569

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

Binary interactionsi

WithEntry#Exp.IntActNotes
EAF1Q96JC94EBI-395274,EBI-769261

Protein-protein interaction databases

BioGridi116595, 28 interactors
CORUMiO00472
IntActiO00472, 28 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
Helixi527 – 531Combined sources5
Helixi538 – 578Combined sources41
Helixi584 – 602Combined sources19
Helixi607 – 636Combined sources30

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2E5NNMR-A200-292[»]
5JW9X-ray2.00B519-640[»]
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

InterProiView protein in InterPro
IPR031176 ELL/occludin
IPR031179 ELL2
IPR019464 ELL_N
IPR010844 Occludin_ELL
IPR036390 WH_DNA-bd_sf
PANTHERiPTHR23288 PTHR23288, 1 hit
PTHR23288:SF8 PTHR23288:SF8, 1 hit
PfamiView protein in Pfam
PF10390 ELL, 1 hit
PF07303 Occludin_ELL, 1 hit
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 → T2 PublicationsCorresponds to variant dbSNP:rs3815768Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiELL2_HUMAN
AccessioniPrimary (citable) accession number: O00472
Secondary accession number(s): B4DNK7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: July 28, 2009
Last modified: June 20, 2018
This is version 142 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

3D-structure, Complete proteome, Reference proteome

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