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2025-05-09 18:46:39, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001195432 2538 bp mRNA linear PRI 02-JUN-2013
DEFINITION Homo sapiens myeloid leukemia factor 1 (MLF1), transcript variant
4, mRNA.
ACCESSION NM_001195432
VERSION NM_001195432.1 GI:306482664
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 2538)
AUTHORS Molzan,M. and Ottmann,C.
TITLE Subcellular localization of full-length human myeloid leukemia
factor 1 (MLF1) is independent of 14-3-3 proteins
JOURNAL Cell. Mol. Biol. Lett. 18 (1), 137-148 (2013)
PUBMED 23271436
REMARK GeneRIF: The subcellular localization of full-length human MLF1 is
14-3-3epsilon-independent.
REFERENCE 2 (bases 1 to 2538)
AUTHORS Lee,W.H., Salek-Ardakani,S., Pandolfi,P.P., Brady,H.J., de Boer,J.
and Williams,O.
TITLE NPM-MLF1 synergizes with Npm haploinsufficiency to enhance myeloid
progenitor activity
JOURNAL Leukemia 26 (5), 1110-1112 (2012)
PUBMED 22193965
REMARK GeneRIF: changes in the subcellular localization of NPM, due to
alterations in the relative abundance of NPM and NPM-MLF1 proteins,
may contribute to the enhanced myeloid progenitor activity of Npm
+/- cells
REFERENCE 3 (bases 1 to 2538)
AUTHORS Molzan,M., Weyand,M., Rose,R. and Ottmann,C.
TITLE Structural insights of the MLF1/14-3-3 interaction
JOURNAL FEBS J. 279 (4), 563-571 (2012)
PUBMED 22151054
REMARK GeneRIF: Data present the high-resolution crystal structure of this
binding motif [MLF1(29-42)pSer34] in complex with 14-3-3epsilon and
analyse the interaction with isothermal titration calorimetry.
REFERENCE 4 (bases 1 to 2538)
AUTHORS Lim,G., Choi,J.R., Kim,M.J., Kim,S.Y., Lee,H.J., Suh,J.T.,
Yoon,H.J., Lee,J., Lee,S., Lee,W.I. and Park,T.S.
TITLE Detection of t(3;5) and NPM1/MLF1 rearrangement in an elderly
patient with acute myeloid leukemia: clinical and laboratory study
with review of the literature
JOURNAL Cancer Genet. Cytogenet. 199 (2), 101-109 (2010)
PUBMED 20471513
REMARK GeneRIF: MLF1 gene rearrangement is associated with acute myeloid
leukemia.
Review article
REFERENCE 5 (bases 1 to 2538)
AUTHORS Luke,M.M., O'Meara,E.S., Rowland,C.M., Shiffman,D., Bare,L.A.,
Arellano,A.R., Longstreth,W.T. Jr., Lumley,T., Rice,K., Tracy,R.P.,
Devlin,J.J. and Psaty,B.M.
TITLE Gene variants associated with ischemic stroke: the cardiovascular
health study
JOURNAL Stroke 40 (2), 363-368 (2009)
PUBMED 19023099
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (bases 1 to 2538)
AUTHORS Yoneda-Kato,N., Tomoda,K., Umehara,M., Arata,Y. and Kato,J.Y.
TITLE Myeloid leukemia factor 1 regulates p53 by suppressing COP1 via
COP9 signalosome subunit 3
JOURNAL EMBO J. 24 (9), 1739-1749 (2005)
PUBMED 15861129
REFERENCE 7 (bases 1 to 2538)
AUTHORS Hanissian,S.H., Akbar,U., Teng,B., Janjetovic,Z., Hoffmann,A.,
Hitzler,J.K., Iscove,N., Hamre,K., Du,X., Tong,Y., Mukatira,S.,
Robertson,J.H. and Morris,S.W.
TITLE cDNA cloning and characterization of a novel gene encoding the
MLF1-interacting protein MLF1IP
JOURNAL Oncogene 23 (20), 3700-3707 (2004)
PUBMED 15116101
REFERENCE 8 (bases 1 to 2538)
AUTHORS Arber,D.A., Chang,K.L., Lyda,M.H., Bedell,V., Spielberger,R. and
Slovak,M.L.
TITLE Detection of NPM/MLF1 fusion in t(3;5)-positive acute myeloid
leukemia and myelodysplasia
JOURNAL Hum. Pathol. 34 (8), 809-813 (2003)
PUBMED 14506644
REMARK GeneRIF: These findings suggest that an NPM/MLF1 fusion is the
primary molecular abnormality in t(3;5) MDS and AML with
multilineage dysplasia, and that cases with NPM/MLF1 may be
clinically distinct from other MDS-associated disease
REFERENCE 9 (bases 1 to 2538)
AUTHORS Lim,R., Winteringham,L.N., Williams,J.H., McCulloch,R.K.,
Ingley,E., Tiao,J.Y., Lalonde,J.P., Tsai,S., Tilbrook,P.A., Sun,Y.,
Wu,X., Morris,S.W. and Klinken,S.P.
TITLE MADM, a novel adaptor protein that mediates phosphorylation of the
14-3-3 binding site of myeloid leukemia factor 1
JOURNAL J. Biol. Chem. 277 (43), 40997-41008 (2002)
PUBMED 12176995
REMARK GeneRIF: phosphorylation of 14-3-3 binding site by MADM
REFERENCE 10 (bases 1 to 2538)
AUTHORS Yoneda-Kato,N., Look,A.T., Kirstein,M.N., Valentine,M.B.,
Raimondi,S.C., Cohen,K.J., Carroll,A.J. and Morris,S.W.
TITLE The t(3;5)(q25.1;q34) of myelodysplastic syndrome and acute myeloid
leukemia produces a novel fusion gene, NPM-MLF1
JOURNAL Oncogene 12 (2), 265-275 (1996)
PUBMED 8570204
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DB455518.1, AK096889.1,
AC025033.20, BX647666.1 and BU619178.1.
This sequence is a reference standard in the RefSeqGene project.
Summary: This gene encodes an oncoprotein which is thought to play
a role in the phenotypic determination of hemopoetic cells.
Translocations between this gene and nucleophosmin have been
associated with myelodysplastic syndrome and acute myeloid
leukemia. Multiple transcript variants encoding different isoforms
have been found for this gene. [provided by RefSeq, Sep 2010].
Transcript Variant: This variant (4) represents the longest
transcript and encodes the longest isoform (3).
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 :: AK096889.1 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-90 DB455518.1 1-90
91-322 AK096889.1 1-232
323-359 AC025033.20 85281-85317 c
360-1462 AK096889.1 269-1371
1463-2517 BX647666.1 1199-2253
2518-2538 BU619178.1 1-21 c
FEATURES Location/Qualifiers
source 1..2538
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3q25.1"
gene 1..2538
/gene="MLF1"
/note="myeloid leukemia factor 1"
/db_xref="GeneID:4291"
/db_xref="HGNC:7125"
/db_xref="MIM:601402"
exon 1..184
/gene="MLF1"
/inference="alignment:Splign:1.39.8"
variation 43
/gene="MLF1"
/replace="c"
/replace="g"
/db_xref="dbSNP:369380572"
variation 57
/gene="MLF1"
/replace="c"
/replace="g"
/db_xref="dbSNP:143695805"
variation 83
/gene="MLF1"
/replace="a"
/replace="t"
/db_xref="dbSNP:3817373"
variation 86
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376950316"
variation 108
/gene="MLF1"
/replace=""
/replace="g"
/db_xref="dbSNP:375504173"
variation 116
/gene="MLF1"
/replace="a"
/replace="c"
/db_xref="dbSNP:115990924"
variation 126
/gene="MLF1"
/replace="g"
/replace="t"
/db_xref="dbSNP:368308808"
variation 139
/gene="MLF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145269202"
variation 169
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:111765288"
exon 185..458
/gene="MLF1"
/inference="alignment:Splign:1.39.8"
variation 236..237
/gene="MLF1"
/replace=""
/replace="a"
/db_xref="dbSNP:367962940"
misc_feature 301..303
/gene="MLF1"
/note="upstream in-frame stop codon"
variation 345
/gene="MLF1"
/replace="a"
/replace="t"
/db_xref="dbSNP:182805973"
CDS 364..1263
/gene="MLF1"
/note="isoform 3 is encoded by transcript variant 4;
myelodysplasia-myeloid leukemia factor 1"
/codon_start=1
/product="myeloid leukemia factor 1 isoform 3"
/protein_id="NP_001182361.1"
/db_xref="GI:306482665"
/db_xref="CCDS:CCDS56286.1"
/db_xref="GeneID:4291"
/db_xref="HGNC:7125"
/db_xref="MIM:601402"
/translation="
MLKEVLQREGKSYKSETLMYIKKARASENKLSESILAHRENMRQMIRSFSEPFGRDLLSISDGRGRAHNRRGHNDGEDSLTATSCSLVPFGDFGGMHTDVSSFQTMDQMVSNMRNYMQKLERNFGQLSVDPNGHSFCSSSVMTYSKIGDEPPKVFQASTQTRRAPGGIKETRKAMRDSDSGLEKMAIGHHIHDRAHVIKKSKNKKTGDEEVNQEFINMNESDAHAFDEEWQSEVLKYKPGRHNLGNTRMRSVGHENPGSRELKRREKPQQSPAIEHGRRSNVLGDKLHIKGSSVKSNKK
"
misc_feature 487..1065
/gene="MLF1"
/note="Myelodysplasia-myeloid leukemia factor
1-interacting protein; Region: Mlf1IP; pfam10248"
/db_xref="CDD:118772"
exon 459..606
/gene="MLF1"
/inference="alignment:Splign:1.39.8"
variation 478
/gene="MLF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141212572"
variation 484
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368107623"
variation 488
/gene="MLF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371659390"
variation 490
/gene="MLF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:375897249"
variation 530
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:11553990"
variation 572
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200582831"
variation 589
/gene="MLF1"
/replace="g"
/replace="t"
/db_xref="dbSNP:143826689"
variation 595
/gene="MLF1"
/replace="g"
/replace="t"
/db_xref="dbSNP:138730214"
variation 596
/gene="MLF1"
/replace="a"
/replace="t"
/db_xref="dbSNP:11553991"
exon 607..651
/gene="MLF1"
/inference="alignment:Splign:1.39.8"
variation 611
/gene="MLF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371041058"
variation 637
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377002058"
exon 652..735
/gene="MLF1"
/inference="alignment:Splign:1.39.8"
variation 679
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373208111"
variation 683
/gene="MLF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:34136180"
variation 690
/gene="MLF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:35009328"
variation 718
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:11553992"
variation 722
/gene="MLF1"
/replace="a"
/replace="t"
/db_xref="dbSNP:148038875"
exon 736..864
/gene="MLF1"
/inference="alignment:Splign:1.39.8"
variation 736
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369492661"
variation 737
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141753552"
variation 758
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376983899"
variation 809
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370155653"
variation 815
/gene="MLF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199951975"
variation 821
/gene="MLF1"
/replace="a"
/replace="t"
/db_xref="dbSNP:202204704"
variation 837
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:143366875"
variation 851
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201952489"
exon 865..1024
/gene="MLF1"
/inference="alignment:Splign:1.39.8"
variation 866
/gene="MLF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371177089"
variation 883
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:73024716"
variation 887
/gene="MLF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201416644"
variation 951
/gene="MLF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:142693175"
variation 1011
/gene="MLF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:78816147"
exon 1025..1157
/gene="MLF1"
/inference="alignment:Splign:1.39.8"
variation 1026
/gene="MLF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:4875"
variation 1027
/gene="MLF1"
/replace="c"
/replace="g"
/db_xref="dbSNP:201104179"
variation 1043
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:185859110"
variation 1067
/gene="MLF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:144857882"
variation 1068
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:148554013"
variation 1103
/gene="MLF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368269871"
variation 1112
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142947056"
variation 1132
/gene="MLF1"
/replace="g"
/replace="t"
/db_xref="dbSNP:15967"
variation 1141
/gene="MLF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200248107"
exon 1158..2521
/gene="MLF1"
/inference="alignment:Splign:1.39.8"
variation 1206
/gene="MLF1"
/replace="a"
/replace="t"
/db_xref="dbSNP:141302132"
STS 1261..1436
/gene="MLF1"
/standard_name="SHGC-35682"
/db_xref="UniSTS:60298"
variation 1268
/gene="MLF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199617681"
variation 1293
/gene="MLF1"
/replace="g"
/replace="t"
/db_xref="dbSNP:370819280"
STS 1296..1428
/gene="MLF1"
/standard_name="STS-L49054"
/db_xref="UniSTS:76082"
variation 1297
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373841165"
variation 1340
/gene="MLF1"
/replace="a"
/replace="c"
/db_xref="dbSNP:191163198"
variation 1459
/gene="MLF1"
/replace="a"
/replace="t"
/db_xref="dbSNP:373936354"
variation 1484
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:6804259"
variation 1734
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:182535822"
variation 1904
/gene="MLF1"
/replace="a"
/replace="c"
/db_xref="dbSNP:187657148"
variation 1937
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:7628293"
variation 1988
/gene="MLF1"
/replace="a"
/replace="t"
/db_xref="dbSNP:7617983"
variation 2058..2059
/gene="MLF1"
/replace=""
/replace="g"
/db_xref="dbSNP:35709400"
variation 2082
/gene="MLF1"
/replace="a"
/replace="t"
/db_xref="dbSNP:372252684"
STS 2159..2348
/gene="MLF1"
/standard_name="RH102628"
/db_xref="UniSTS:96962"
variation 2295
/gene="MLF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:34245841"
variation 2322
/gene="MLF1"
/replace="g"
/replace="t"
/db_xref="dbSNP:16829134"
polyA_signal 2497..2502
/gene="MLF1"
polyA_site 2520
/gene="MLF1"
ORIGIN
tatcccggcgggcaccgcctgcgccgcggcgagtgaggcgtcgtccgtactggaggctagctcttgtcgcggccgcggcgagttaacatcgtttttccaatctgtccgcggctgccgccacccaagacagagccagaatgttcaggatgctgaacagcagttttgaggatgaccccttcttctcagaccatgcaagcaagaagagaatggcatgaaatatataaagtgttgagaggaaaaaaacccactgacctagaattctgtatcctgcaaaattatcctttaaaagtcaagaagaaatagactgtctcagacaaacaaaaatttggtgaatttgttgacagtagacctgccttgcaagaaatgttaaaagaagttcttcagagagaaggaaaatcatacaagtcagaaactctgatgtacattaaaaaagcaagagcatcagagaataagttaagtgagtccattcttgcacaccgagaaaatatgcgacagatgataagaagtttttctgaaccctttggaagagacttgctcagtatctctgatggtagagggagagctcataatcgtagaggacataatgatggtgaagattctttgactgcaacgagttgttctcttgtgccttttggcgattttggtggtatgcatacagatgtcagctctttccagacaatggaccaaatggtgtcaaatatgagaaactatatgcagaaattagaaagaaacttcggtcaactttcagtggatccaaatggacattcattttgttcttcctcagttatgacttattccaaaataggagatgaaccgccaaaggtttttcaggcctcaactcaaactcgtcgagctccaggaggaataaaggaaaccaggaaagcaatgagagattctgacagtggactagaaaaaatggctattggtcatcatatccatgaccgagctcatgtcattaaaaagtcaaagaacaagaagactggagatgaagaggtcaaccaggagttcatcaatatgaatgaaagtgatgctcatgcttttgatgaggagtggcaaagtgaggttttgaagtacaaaccaggacgacacaatctaggaaacactagaatgagaagtgttggccatgagaatcctggctcccgagaacttaaaagaagggagaaacctcaacaaagtccagccattgaacatggaaggagatcaaatgttttgggggacaaactccacatcaaaggctcatctgtgaaaagcaacaaaaaataaatagccatgcatttgatttgtttagttttgattgttttaacagttagtaatggtgctgggtaataagcataagaccaatctcttgctgttaaatcagttctgtccttggcaactttcttctgatatctgaatgttcatgaaggtcctagctttatattgtccctcttttaggaataaaattttgattttcaacaatgtgagtaaattgagtctatttaatgtaaaactctttaaaacatactaattttttaaagcttatatgcttatttcgcttccccagttgtttttgtgttggctaaatattcttttatatttatcaagattgattgcagagcagttctatcacttataattagttataagaaattataatgttaaaaaagtctcagtttttactaacactgtactagggtgatattaataaaggtttaaataatttatctctaattttataatgtgttgtaaagccaactagcttaaaactttaaaaataataaagcaaaactacactagtactcttttatgagaaaatagttactattttgataaagggcaaggataatcaaatagttcattttcagagaaaaatattttaaattgctaatgtacatgattgttttggttataatttatttatagaatgtatcttttctatattacattcttaatattcaccagatattatattgaccattctctttaacttcttaatgtggcatatttctactctcctttcccacaaacagcttcatctgtctccaaggttaacattctgaagctggagagtccttggagaaactctgctcagcttttttgtgacatttagaaaaatgcatttggtattctccaaaccagaatgatacattgtctcaaaatctgttagacagctgatgggtgtttttgagcaacgtcttaataattcagttgtttctgttttaattataccattaaaaatcagctttagctttttaattctagaatttaagcatcagtctgttcttataaaagttaggtttgaagtttataagaatataaaatcttaactcacatttgttgtttaatatttctgtcaaggaaaaaagcccccaaaaattgctatcactctataatcctaagtatttttcttttcaattttgtaagtaaaattatatgactatgttcatacttctctaattttttatataatatttttgttaattttactagtttgtgttttatgcctttagtcattaaaataaaatgcaaatgtgttaattcaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:4291 -> Molecular function: GO:0003677 [DNA binding] evidence: ISS
GeneID:4291 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:4291 -> Molecular function: GO:0019904 [protein domain specific binding] evidence: IDA
GeneID:4291 -> Biological process: GO:0002318 [myeloid progenitor cell differentiation] evidence: ISS
GeneID:4291 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: ISS
GeneID:4291 -> Biological process: GO:0007050 [cell cycle arrest] evidence: IDA
GeneID:4291 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:4291 -> Cellular component: GO:0005634 [nucleus] evidence: ISS
GeneID:4291 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:4291 -> Cellular component: GO:0005737 [cytoplasm] evidence: ISS
by
@meso_cacase at
DBCLS
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