LOCUS       NP_005925                559 aa            linear   PRI 27-APR-2025
DEFINITION  protein ENL [Homo sapiens].
ACCESSION   NP_005925
VERSION     NP_005925.2
DBSOURCE    REFSEQ: accession NM_005934.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 559)
  AUTHORS   Tan,L., Wang,L., Liu,J. and Yu,Y.
  TITLE     Circvrk1 downregulation attenuates brain microvascular endothelial
            cell damage induced by oxygen-glucose deprivation through
            modulating the miR-150-5p/MLLT1 axis
  JOURNAL   Exp Brain Res 241 (3), 781-791 (2023)
   PUBMED   36735043
  REMARK    GeneRIF: Circvrk1 downregulation attenuates brain microvascular
            endothelial cell damage induced by oxygen-glucose deprivation
            through modulating the miR-150-5p/MLLT1 axis.
REFERENCE   2  (residues 1 to 559)
  AUTHORS   Hu,H., Saha,N., Yang,Y., Ahmad,E., Lachowski,L., Shrestha,U.,
            Premkumar,V., Ropa,J., Chen,L., Teahan,B., Grigsby,S.,
            Marschalek,R., Nikolovska-Coleska,Z. and Muntean,A.G.
  TITLE     The ENL YEATS epigenetic reader domain critically links MLL-ENL to
            leukemic stem cell frequency in t(11;19) Leukemia
  JOURNAL   Leukemia 37 (1), 190-201 (2023)
   PUBMED   36435883
  REMARK    GeneRIF: The ENL YEATS epigenetic reader domain critically links
            MLL-ENL to leukemic stem cell frequency in t(11;19) Leukemia.
REFERENCE   3  (residues 1 to 559)
  AUTHORS   Yan,F., Li,J., Milosevic,J., Petroni,R., Liu,S., Shi,Z., Yuan,S.,
            Reynaga,J.M., Qi,Y., Rico,J., Yu,S., Liu,Y., Rokudai,S.,
            Palmisiano,N., Meyer,S.E., Sung,P.J., Wan,L., Lan,F., Garcia,B.A.,
            Stanger,B.Z., Sykes,D.B. and Blanco,M.A.
  TITLE     KAT6A and ENL Form an Epigenetic Transcriptional Control Module to
            Drive Critical Leukemogenic Gene-Expression Programs
  JOURNAL   Cancer Discov 12 (3), 792-811 (2022)
   PUBMED   34853079
  REMARK    GeneRIF: KAT6A and ENL Form an Epigenetic Transcriptional Control
            Module to Drive Critical Leukemogenic Gene-Expression Programs.
REFERENCE   4  (residues 1 to 559)
  AUTHORS   Kabra,A. and Bushweller,J.
  TITLE     The Intrinsically Disordered Proteins MLLT3 (AF9) and MLLT1 (ENL) -
            Multimodal Transcriptional Switches With Roles in Normal
            Hematopoiesis, MLL Fusion Leukemia, and Kidney Cancer
  JOURNAL   J Mol Biol 434 (1), 167117 (2022)
   PUBMED   34174329
  REMARK    GeneRIF: The Intrinsically Disordered Proteins MLLT3 (AF9) and
            MLLT1 (ENL) - Multimodal Transcriptional Switches With Roles in
            Normal Hematopoiesis, MLL Fusion Leukemia, and Kidney Cancer.
            Review article
REFERENCE   5  (residues 1 to 559)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (residues 1 to 559)
  AUTHORS   Lavau,C., Luo,R.T., Du,C. and Thirman,M.J.
  TITLE     Retrovirus-mediated gene transfer of MLL-ELL transforms primary
            myeloid progenitors and causes acute myeloid leukemias in mice
  JOURNAL   Proc Natl Acad Sci U S A 97 (20), 10984-10989 (2000)
   PUBMED   10995463
REFERENCE   7  (residues 1 to 559)
  AUTHORS   Thirman,M.J., Levitan,D.A., Kobayashi,H., Simon,M.C. and
            Rowley,J.D.
  TITLE     Cloning of ELL, a gene that fuses to MLL in a t(11;19)(q23;p13.1)
            in acute myeloid leukemia
  JOURNAL   Proc Natl Acad Sci U S A 91 (25), 12110-12114 (1994)
   PUBMED   7991593
REFERENCE   8  (residues 1 to 559)
  AUTHORS   Rubnitz,J.E., Morrissey,J., Savage,P.A. and Cleary,M.L.
  TITLE     ENL, the gene fused with HRX in t(11;19) leukemias, encodes a
            nuclear protein with transcriptional activation potential in
            lymphoid and myeloid cells
  JOURNAL   Blood 84 (6), 1747-1752 (1994)
   PUBMED   8080983
REFERENCE   9  (residues 1 to 559)
  AUTHORS   Yamamoto,K., Seto,M., Komatsu,H., Iida,S., Akao,Y., Kojima,S.,
            Kodera,Y., Nakazawa,S., Ariyoshi,Y., Takahashi,T. et al.
  TITLE     Two distinct portions of LTG19/ENL at 19p13 are involved in
            t(11;19) leukemia
  JOURNAL   Oncogene 8 (10), 2617-2625 (1993)
   PUBMED   8378076
REFERENCE   10 (residues 1 to 559)
  AUTHORS   Tkachuk,D.C., Kohler,S. and Cleary,M.L.
  TITLE     Involvement of a homolog of Drosophila trithorax by 11q23
            chromosomal translocations in acute leukemias
  JOURNAL   Cell 71 (4), 691-700 (1992)
   PUBMED   1423624
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011471.6, D14539.1 and BC047008.1.
            
            On Jun 10, 2002 this sequence version replaced NP_005925.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: D14539.1, L04285.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252674.9/ ENSP00000252674.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..559
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..559
                     /product="protein ENL"
                     /note="myeloid/lymphoid or mixed-lineage leukemia
                     (trithorax homolog); translocated to, 1; myeloid/lymphoid
                     or mixed-lineage leukemia; translocated to, 1; ENL/MLL
                     fusion; MLLT1/MLL fusion; CTC-503J8.6; MLL/ENL fusion
                     protein; myeloid/lymphoid or mixed-lineage leukemia
                     (trithorax homolog, Drosophila); translocated to, 1; YEATS
                     domain-containing protein 1"
                     /calculated_mol_wt=61925
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q03111.2)"
     Region          9..137
                     /region_name="YEATS_AF-9_like"
                     /note="YEATS domain found in ENL and AF-9-like proteins;
                     cd16906"
                     /db_xref="CDD:341125"
     Site            order(28,30,56,58..59,76..81,103..106)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:341125"
     Region          56..58
                     /region_name="Acylated histone binding.
                     /evidence=ECO:0000269|PubMed:28241141,
                     ECO:0007744|PDB:5J9S"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03111.2)"
     Region          78..80
                     /region_name="Acylated histone binding.
                     /evidence=ECO:0000269|PubMed:28241141,
                     ECO:0007744|PDB:5J9S"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03111.2)"
     Site            103
                     /site_type="other"
                     /note="Acylated histone binding.
                     /evidence=ECO:0000269|PubMed:28241141,
                     ECO:0007744|PDB:5J9S; propagated from UniProtKB/Swiss-Prot
                     (Q03111.2)"
     Region          147..484
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03111.2)"
     Site            155
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q03111.2)"
     Site            292
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (Q03111.2)"
     Site            296
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q03111.2)"
     Site            359
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q03111.2)"
     Site            361
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q03111.2)"
     Region          495..555
                     /region_name="AHD"
                     /note="ANC1 homology domain (AHD); pfam17793"
                     /db_xref="CDD:436050"
     CDS             1..559
                     /gene="MLLT1"
                     /gene_synonym="ENL; LTG19; YEATS1"
                     /coded_by="NM_005934.4:192..1871"
                     /db_xref="CCDS:CCDS12160.1"
                     /db_xref="GeneID:4298"
                     /db_xref="HGNC:HGNC:7134"
                     /db_xref="MIM:159556"
ORIGIN      
        1 mdnqctvqvr lelghraqlr kkpttegfth dwmvfvrgpe qcdiqhfvek vvfwlhdsfp
       61 kprrvckepp ykveesgyag fimpievhfk nkeeprkvcf tydlflnleg nppvnhlrce
      121 kltfnnptte frykllragg vmvmpegadt vsrpspdypm lptiplsafs dpkktkpshg
      181 skdankessk tskphkvtke hrerprkdse skssskeler eqaksskdts rklgegrlpk
      241 eekapppkaa fkepkmalke tklestspkg gppppppppp rasskrpata dspkpsakkq
      301 kkssskgsrs apgtsprtss sssfsdkkpa kdksstrgek vkaeseprea kkaleveesn
      361 sedeasfkse saqsspsnss sssdsssdsd fepsqnhsqg plrsmvedlq seesdeddss
      421 sgeeaagktn pgrdsrlsfs dsesdnsads slpsrepppp qkppppnskv sgrrspescs
      481 kpekilkkgt ydkaytdelv elhrrlmalr ernvlqqivn lieetghfnv tnttfdfdlf
      541 sldettvrkl qscleavat
//
