Reviewed, UniProtKB/Swiss-Prot Q03111 (ENL_HUMAN)

Names and origin

Protein names

Recommended name:
    Protein ENL
Alternative name(s):
    YEATS domain-containing protein 1

Gene names

Name:	MLLT1
Synonyms:	ENL, LTG19, YEATS1

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	559 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Capable of activating transcription from synthetic reporter genes in both lymphoid and myeloid cells.
Subcellular location	Nucleus.
Involvement in disease	A chromosomal aberration involving MLLT1 is associated with acute leukemias. Translocation t(11;19)(q23;p13.3) with MLL/HRX. The result is a rogue activator protein.
Sequence similarities	Contains 1 YEATS domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Chromosomal rearrangement
Disease	Proto-oncogene
Molecular function	Activator
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: InterPro transcription from RNA polymerase II promoter Ref.3 Traceable author statement. Source: ProtInc
Cellular component	nucleus Ref.3 Traceable author statement. Source: ProtInc
Molecular function	DNA binding Traceable author statement. Source: ProtInc RNA polymerase II transcription factor activity Ref.3 Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 559	559	Protein ENL		PRO_0000215938
Regions
	Domain	8 – 112	105	YEATS
	Compositional bias	272 – 280	9	Poly-Pro
	Compositional bias	319 – 325	7	Poly-Ser
	Compositional bias	374 – 389	16	Poly-Ser
	Compositional bias	457 – 460	4	Poly-Pro
	Compositional bias	463 – 466	4	Poly-Pro
Amino acid modifications
	Modified residue	155	1	Phosphoserine Ref.7
	Modified residue	209	1	Phosphoserine Ref.4
	Modified residue	252	1	N6-acetyllysine Ref.8
	Modified residue	292	1	Phosphoserine Ref.5 Ref.6
	Modified residue	296	1	Phosphoserine Ref.6
	Modified residue	315	1	Phosphoserine Ref.6
	Modified residue	359	1	Phosphoserine Ref.4
	Modified residue	361	1	Phosphoserine Ref.4
	Modified residue	366	1	Phosphoserine Ref.4
	Modified residue	475	1	Phosphoserine Ref.4
Experimental info
	Sequence conflict	269 – 270	2	KG → NP in AAA58457. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q03111-1 [UniParc]. Last modified October 17, 2006. Version 2. Checksum: A8480BA0F8742173	FASTA	559	62,056
	10 20 30 40 50 60 MDNQCTVQVR LELGHRAQLR KKPTTEGFTH DWMVFVRGPE QCDIQHFVEK VVFWLHDSFP 70 80 90 100 110 120 KPRRVCKEPP YKVEESGYAG FIMPIEVHFK NKEEPRKVCF TYDLFLNLEG NPPVNHLRCE 130 140 150 160 170 180 KLTFNNPTTE FRYKLLRAGG VMVMPEGADT VSRPSPDYPM LPTIPLSAFS DPKKTKPSHG 190 200 210 220 230 240 SKDANKESSK TSKPHKVTKE HRERPRKDSE SKSSSKELER EQAKSSKDTS RKLGEGRLPK 250 260 270 280 290 300 EEKAPPPKAA FKEPKMALKE TKLESTSPKG GPPPPPPPPP RASSKRPATA DSPKPSAKKQ 310 320 330 340 350 360 KKSSSKGSRS APGTSPRTSS SSSFSDKKPA KDKSSTRGEK VKAESEPREA KKALEVEESN 370 380 390 400 410 420 SEDEASFKSE SAQSSPSNSS SSSDSSSDSD FEPSQNHSQG PLRSMVEDLQ SEESDEDDSS 430 440 450 460 470 480 SGEEAAGKTN PGRDSRLSFS DSESDNSADS SLPSREPPPP QKPPPPNSKV SGRRSPESCS 490 500 510 520 530 540 KPEKILKKGT YDKAYTDELV ELHRRLMALR ERNVLQQIVN LIEETGHFNV TNTTFDFDLF 550 SLDETTVRKL QSCLEAVAT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Involvement of a homolog of Drosophila trithorax by 11q23 chromosomal translocations in acute leukemias." Tkachuk D.C., Kohler S., Cleary M.L. Cell 71:691-700(1992) [PubMed: 1423624] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Two distinct portions of LTG19/ENL at 19p13 are involved in t(11;19) leukemia." Yamamoto K., Seto M., Komatsu H., Iida S., Akao Y., Kojima S., Kodera Y., Nakazawa S., Ariyoshi Y., Takahashi T., Ueda R. Oncogene 8:2617-2625(1993) [PubMed: 8378076] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"ENL, the gene fused with HRX in t(11;19) leukemias, encodes a nuclear protein with transcriptional activation potential in lymphoid and myeloid cells." Rubnitz J.E., Morrissey J., Savage P.A., Cleary M.L. Blood 84:1747-1752(1994) [PubMed: 8080983] [Abstract] Cited for: CHARACTERIZATION.
[4]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-209; SER-359; SER-361; SER-366 AND SER-475, MASS SPECTROMETRY. Tissue: Epithelium.
[5]	"Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-292, MASS SPECTROMETRY. Tissue: Epithelium.
[6]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-292; SER-296 AND SER-315, MASS SPECTROMETRY.
[7]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-155, MASS SPECTROMETRY.
[8]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-252, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBLGenBankDDBJ	L04285 mRNA. Translation: AAA58457.1. D14539 mRNA. Translation: BAA03406.1.
IPI	IPI00100630.
PIR	B44265.
RefSeq	NP_005925.2.
UniGene	Hs.713525
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q03111.
PTM databases
PhosphoSite	Q03111.
Proteomic databases
PeptideAtlas	Q03111.
PRIDE	Q03111.
Genome annotation databases
Ensembl	ENST00000252674; ENSP00000252674; ENSG00000130382; Homo sapiens. [Genome view]
GeneID	4298.
KEGG	hsa:4298.
UCSC	uc002mek.1. human.
Organism-specific databases
CTD	4298.
GeneCards	GC19M006163.
H-InvDB	HIX0040042.
HGNC	HGNC:7134. MLLT1.
MIM	159556. gene.
PharmGKB	PA30848.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q03111.
HOVERGEN	Q03111.
OMA	PSHGSKD.
Gene expression databases
ArrayExpress	Q03111.
Bgee	Q03111.
CleanEx	HS_MLLT1.
Genevestigator	Q03111.
GermOnline	ENSG00000130382. Homo sapiens.
Family and domain databases
InterPro	IPR005033. YEATS. [Graphical view]
PANTHER	PTHR23195. YEATS. 1 hit.
Pfam	PF03366. YEATS. 1 hit. [Graphical view]
PROSITE	PS51037. YEATS. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	16919.
SOURCE	Search...

Entry information

Entry name

ENL_HUMAN

Accession

Primary (citable) accession number: Q03111
Secondary accession number(s): Q14768

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1994
Last sequence update:	October 17, 2006
Last modified:	November 3, 2009
This is version 81 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.