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Protein

RNA polymerase II elongation factor ELL

Gene

ELL

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. Elongation factor 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, PubMed:23932780). Specifically required for stimulating the elongation step of RNA polymerase II- and III-dependent snRNA gene transcription (PubMed:23932780). ELL also plays an early role before its assembly into in the SEC complex by stabilizing RNA polymerase II recruitment/initiation and entry into the pause site. Required to stabilize the pre-initiation complex and early elongation.7 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei46KMT2A/MLL1 fusion point (in acute myeloid leukemia patient)1 Publication1

GO - Molecular functioni

  • phosphatase binding Source: UniProtKB

GO - Biological processi

  • in utero embryonic development Source: Ensembl
  • negative regulation of phosphatase activity Source: UniProtKB
  • positive regulation of DNA-templated transcription, elongation Source: ProtInc
  • positive regulation of transcription by RNA polymerase III Source: UniProtKB
  • positive regulation of transcription elongation from RNA polymerase II promoter Source: UniProtKB
  • snRNA transcription by RNA polymerase II Source: UniProtKB
  • snRNA transcription by RNA polymerase III Source: UniProtKB
  • transcription by RNA polymerase II Source: Reactome
  • transcription elongation from RNA polymerase II promoter Source: Reactome

Keywordsi

Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-112382 Formation of RNA Pol II elongation complex
R-HSA-167152 Formation of HIV elongation complex in the absence of HIV Tat
R-HSA-167200 Formation of HIV-1 elongation complex containing HIV-1 Tat
R-HSA-167238 Pausing and recovery of Tat-mediated HIV elongation
R-HSA-167243 Tat-mediated HIV elongation arrest and recovery
R-HSA-167246 Tat-mediated elongation of the HIV-1 transcript
R-HSA-167287 HIV elongation arrest and recovery
R-HSA-167290 Pausing and recovery of HIV elongation
R-HSA-674695 RNA Polymerase II Pre-transcription Events
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes
R-HSA-6807505 RNA polymerase II transcribes snRNA genes
R-HSA-75955 RNA Polymerase II Transcription Elongation
SIGNORiP55199

Names & Taxonomyi

Protein namesi
Recommended name:
RNA polymerase II elongation factor ELL
Alternative name(s):
Eleven-nineteen lysine-rich leukemia protein
Gene namesi
Name:ELL
Synonyms:C19orf17
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000105656.12
HGNCiHGNC:23114 ELL
MIMi600284 gene
neXtProtiNX_P55199

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

Involvement in diseasei

A chromosomal aberration involving ELL is found in acute leukemias. Translocation t(11;19)(q23;p13.1) with KMT2A/MLL1. The result is a rogue activator protein.1 Publication

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi8178
OpenTargetsiENSG00000105656
PharmGKBiPA134939610

Polymorphism and mutation databases

BioMutaiELL
DMDMi1706635

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001467332 – 621RNA polymerase II elongation factor ELLAdd BLAST620

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei180PhosphothreonineCombined sources1
Modified residuei309PhosphoserineCombined sources1
Modified residuei561PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP55199
MaxQBiP55199
PaxDbiP55199
PeptideAtlasiP55199
PRIDEiP55199
ProteomicsDBi56805

PTM databases

iPTMnetiP55199
PhosphoSitePlusiP55199

Expressioni

Tissue specificityi

Expressed in all tissues tested. Highest levels found in placenta, skeletal muscle, testis and peripheral blood leukocytes.

Gene expression databases

BgeeiENSG00000105656
CleanExiHS_ELL
ExpressionAtlasiP55199 baseline and differential
GenevisibleiP55199 HS

Organism-specific databases

HPAiHPA046076

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. Interacts with EAF1 and EAF2. Interacts with ICE1 (via N-terminus domain). Interacts with ICE2. Interacts with USPL1 (PubMed:24413172).7 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • phosphatase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi113828, 51 interactors
CORUMiP55199
IntActiP55199, 30 interactors
MINTiP55199
STRINGi9606.ENSP00000262809

Structurei

Secondary structure

1621
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi207 – 217Combined sources11
Helixi222 – 232Combined sources11
Helixi236 – 248Combined sources13
Beta strandi249 – 252Combined sources4
Beta strandi254 – 256Combined sources3
Beta strandi258 – 260Combined sources3
Helixi265 – 268Combined sources4
Helixi279 – 291Combined sources13

3D structure databases

ProteinModelPortaliP55199
SMRiP55199
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP55199

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi445 – 459Nuclear localization signalSequence analysisAdd BLAST15

Sequence similaritiesi

Belongs to the ELL/occludin family.Curated

Phylogenomic databases

eggNOGiKOG4796 Eukaryota
ENOG410ZNGU LUCA
GeneTreeiENSGT00550000074378
HOGENOMiHOG000112356
HOVERGENiHBG005578
InParanoidiP55199
KOiK15183
OMAiCIQQYVS
OrthoDBiEOG091G043D
PhylomeDBiP55199
TreeFamiTF326161

Family and domain databases

InterProiView protein in InterPro
IPR031184 ELL
IPR031176 ELL/occludin
IPR019464 ELL_N
IPR010844 Occludin_ELL
IPR036390 WH_DNA-bd_sf
PANTHERiPTHR23288 PTHR23288, 1 hit
PTHR23288:SF9 PTHR23288:SF9, 1 hit
PfamiView protein in Pfam
PF10390 ELL, 1 hit
PF07303 Occludin_ELL, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P55199-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAALKEDRSY GLSCGRVSDG SKVSVFHVKL TDSALRAFES YRARQDSVSL
60 70 80 90 100
RPSIRFQGSQ GHISIPQPDC PAEARTFSFY LSNIGRDNPQ GSFDCIQQYV
110 120 130 140 150
SSHGEVHLDC LGSIQDKITV CATDDSYQKA RQSMAQAEEE TRSRSAIVIK
160 170 180 190 200
AGGRYLGKKV QFRKPAPGAT DAVPSRKRAT PINLASAIRK SGASAVSGGS
210 220 230 240 250
GVSQRPFRDR VLHLLALRPY RKAELLLRLQ KDGLTQADKD ALDGLLQQVA
260 270 280 290 300
NMSAKDGTCT LQDCMYKDVQ KDWPGYSEGD QQLLKRVLVR KLCQPQSTGS
310 320 330 340 350
LLGDPAASSP PGERGRSASP PQKRLQPPDF IDPLANKKPR ISHFTQRAQP
360 370 380 390 400
AVNGKLGVPN GREALLPTPG PPASTDTLSS STHLPPRLEP PRAHDPLADV
410 420 430 440 450
SNDLGHSGRD CEHGEAAAPA PTVRLGLPLL TDCAQPSRPH GSPSRSKPKK
460 470 480 490 500
KSKKHKDKER AAEDKPRAQL PDCAPATHAT PGAPADTPGL NGTCSVSSVP
510 520 530 540 550
TSTSETPDYL LKYAAISSSE QRQSYKNDFN AEYSEYRDLH ARIERITRRF
560 570 580 590 600
TQLDAQLRQL SQGSEEYETT RGQILQEYRK IKKTNTNYSQ EKHRCEYLHS
610 620
KLAHIKRLIA EYDQRQLQAW P
Length:621
Mass (Da):68,265
Last modified:October 1, 1996 - v1
Checksum:iEB4A3F94CA8A411F
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053072297S → N. Corresponds to variant dbSNP:rs2303694Ensembl.1
Natural variantiVAR_053073387R → W. Corresponds to variant dbSNP:rs35245196Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U16282 mRNA Translation: AAA57120.1
BC049195 mRNA Translation: AAH49195.1
CCDSiCCDS12380.1
PIRiI38880
RefSeqiNP_006523.1, NM_006532.3
UniGeneiHs.515260

Genome annotation databases

EnsembliENST00000262809; ENSP00000262809; ENSG00000105656
GeneIDi8178
KEGGihsa:8178
UCSCiuc002njh.3 human

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiELL_HUMAN
AccessioniPrimary (citable) accession number: P55199
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: June 20, 2018
This is version 159 of the entry and version 1 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

Documents

  1. Human chromosome 19
    Human chromosome 19: 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

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