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Protein

Protein ENL

Gene

MLLT1

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

Functioni

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.2 Publications

GO - Molecular functioni

  • DNA binding Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionActivator
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-112382. Formation of RNA Pol II elongation complex.
R-HSA-112387. Elongation arrest and recovery.
R-HSA-674695. RNA Polymerase II Pre-transcription Events.
R-HSA-75955. RNA Polymerase II Transcription Elongation.
SIGNORiQ03111.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein ENL
Alternative name(s):
YEATS domain-containing protein 1
Gene namesi
Name:MLLT1
Synonyms:ENL, LTG19, YEATS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:7134. MLLT1.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: HPA
  • fibrillar center Source: HPA
  • nucleoplasm Source: HPA
  • nucleus Source: ProtInc
  • transcription elongation factor complex Source: UniProtKB

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving MLLT1 is associated with acute leukemias. Translocation t(11;19)(q23;p13.3) with KMT2A/MLL1. The result is a rogue activator protein.

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi4298.
OpenTargetsiENSG00000130382.
PharmGKBiPA30848.

Polymorphism and mutation databases

BioMutaiMLLT1.
DMDMi116241350.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002159381 – 559Protein ENLAdd BLAST559

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei155PhosphoserineCombined sources1
Cross-linki240Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki262Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei292PhosphoserineCombined sources1
Modified residuei296PhosphoserineCombined sources1
Cross-linki342Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei359PhosphoserineCombined sources1
Modified residuei361PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ03111.
MaxQBiQ03111.
PaxDbiQ03111.
PeptideAtlasiQ03111.
PRIDEiQ03111.

PTM databases

iPTMnetiQ03111.
PhosphoSitePlusiQ03111.

Expressioni

Gene expression databases

BgeeiENSG00000130382.
CleanExiHS_MLLT1.
GenevisibleiQ03111. HS.

Organism-specific databases

HPAiHPA031166.

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). Interacts with ALKBH4.4 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi110444. 51 interactors.
IntActiQ03111. 20 interactors.
STRINGi9606.ENSP00000252674.

Structurei

Secondary structure

1559
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi6 – 19Combined sources14
Beta strandi30 – 37Combined sources8
Helixi44 – 46Combined sources3
Beta strandi48 – 54Combined sources7
Beta strandi59 – 61Combined sources3
Beta strandi63 – 90Combined sources28
Beta strandi92 – 94Combined sources3
Beta strandi97 – 104Combined sources8
Beta strandi114 – 126Combined sources13
Helixi129 – 136Combined sources8
Turni137 – 139Combined sources3
Beta strandi141 – 143Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5J9SX-ray2.70A1-148[»]
ProteinModelPortaliQ03111.
SMRiQ03111.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini8 – 112YEATSPROSITE-ProRule annotationAdd BLAST105

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi272 – 280Poly-Pro9
Compositional biasi319 – 325Poly-Ser7
Compositional biasi374 – 389Poly-SerAdd BLAST16
Compositional biasi457 – 460Poly-Pro4
Compositional biasi463 – 466Poly-Pro4

Phylogenomic databases

eggNOGiKOG3149. Eukaryota.
COG5033. LUCA.
GeneTreeiENSGT00440000039936.
HOGENOMiHOG000033834.
HOVERGENiHBG004191.
InParanoidiQ03111.
KOiK15187.
OMAiCFTYDLF.
OrthoDBiEOG091G06LN.
PhylomeDBiQ03111.
TreeFamiTF314586.

Family and domain databases

InterProiView protein in InterPro
IPR005033. YEATS.
PANTHERiPTHR23195. PTHR23195. 1 hit.
PfamiView protein in Pfam
PF03366. YEATS. 1 hit.
PROSITEiView protein in PROSITE
PS51037. YEATS. 1 hit.

Sequencei

Sequence statusi: Complete.

Q03111-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDNQCTVQVR LELGHRAQLR KKPTTEGFTH DWMVFVRGPE QCDIQHFVEK
60 70 80 90 100
VVFWLHDSFP KPRRVCKEPP YKVEESGYAG FIMPIEVHFK NKEEPRKVCF
110 120 130 140 150
TYDLFLNLEG NPPVNHLRCE KLTFNNPTTE FRYKLLRAGG VMVMPEGADT
160 170 180 190 200
VSRPSPDYPM LPTIPLSAFS DPKKTKPSHG SKDANKESSK TSKPHKVTKE
210 220 230 240 250
HRERPRKDSE SKSSSKELER EQAKSSKDTS RKLGEGRLPK EEKAPPPKAA
260 270 280 290 300
FKEPKMALKE TKLESTSPKG GPPPPPPPPP RASSKRPATA DSPKPSAKKQ
310 320 330 340 350
KKSSSKGSRS APGTSPRTSS SSSFSDKKPA KDKSSTRGEK VKAESEPREA
360 370 380 390 400
KKALEVEESN SEDEASFKSE SAQSSPSNSS SSSDSSSDSD FEPSQNHSQG
410 420 430 440 450
PLRSMVEDLQ SEESDEDDSS SGEEAAGKTN PGRDSRLSFS DSESDNSADS
460 470 480 490 500
SLPSREPPPP QKPPPPNSKV SGRRSPESCS KPEKILKKGT YDKAYTDELV
510 520 530 540 550
ELHRRLMALR ERNVLQQIVN LIEETGHFNV TNTTFDFDLF SLDETTVRKL

QSCLEAVAT
Length:559
Mass (Da):62,056
Last modified:October 17, 2006 - v2
Checksum:iA8480BA0F8742173
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti269 – 270KG → NP in AAA58457 (PubMed:1423624).Curated2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L04285 mRNA. Translation: AAA58457.1.
D14539 mRNA. Translation: BAA03406.1.
CCDSiCCDS12160.1.
PIRiB44265.
RefSeqiNP_005925.2. NM_005934.3.
UniGeneiHs.10095.

Genome annotation databases

EnsembliENST00000252674; ENSP00000252674; ENSG00000130382.
GeneIDi4298.
KEGGihsa:4298.
UCSCiuc002mek.4. human.

Keywords - Coding sequence diversityi

Chromosomal rearrangement

Similar proteinsi

Entry informationi

Entry nameiENL_HUMAN
AccessioniPrimary (citable) accession number: Q03111
Secondary accession number(s): Q14768
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1994
Last sequence update: October 17, 2006
Last modified: August 30, 2017
This is version 156 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

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references