MLF1 (myelodysplasia/myeloid leukemia factor 1)

1997-12-01   Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
3q25.32
LOCUSID
ALIAS
-
FUSION GENES

DNA/RNA

Transcription

alternate splicing: 1.4 and 2.4 kb

Proteins

Description

267 amino acids; 31 KDa; do not contain known functional motifs

Expression

MLF1 transcripts widely expressed (gonads, muscle, heart, kidney, colon)

Localisation

cytoplasmic localisation

Homology

none is known, apart from MLF2 (40% homology)

Implicated in

Entity name
t(3;5)(q25;q34)/AML or MDS--> NPM1 - MLF1
Disease
AML, MDS, BC-CML; trilineage involvement
Prognosis
very poor
Cytogenetics
location of breakpoints difficult to ascertain
Hybrid gene
5 NPM1-3 MLF1 on der(5)
Fusion protein
nuclear protein

Bibliography

Pubmed IDLast YearTitleAuthors
85702041996The t(3;5)(q25.1;q34) of myelodysplastic syndrome and acute myeloid leukemia produces a novel fusion gene, NPM-MLF1.Yoneda-Kato N et al

Other Information

Locus ID:

NCBI: 4291
MIM: 601402
HGNC: 7125
Ensembl: ENSG00000178053

Variants:

dbSNP: 4291
ClinVar: 4291
TCGA: ENSG00000178053
COSMIC: MLF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178053ENST00000355893P58340
ENSG00000178053ENST00000355893A0A0S2Z4U8
ENSG00000178053ENST00000359117P58340
ENSG00000178053ENST00000359117A0A140VKD2
ENSG00000178053ENST00000392822P58340
ENSG00000178053ENST00000466246A0A0S2Z4A4
ENSG00000178053ENST00000469452P58340
ENSG00000178053ENST00000471745P58340
ENSG00000178053ENST00000477042P58340
ENSG00000178053ENST00000478894P58340
ENSG00000178053ENST00000482628P58340
ENSG00000178053ENST00000482628A0A140VKD2
ENSG00000178053ENST00000484955P58340
ENSG00000178053ENST00000484955A0A140VKD2
ENSG00000178053ENST00000487838F8VXT4
ENSG00000178053ENST00000491767C9JNE5
ENSG00000178053ENST00000495452F8WEY0
ENSG00000178053ENST00000498592C9K0D4
ENSG00000178053ENST00000618075P58340
ENSG00000178053ENST00000619577A0A499FJ64
ENSG00000178053ENST00000650750A0A494C127
ENSG00000178053ENST00000650753A0A494C175
ENSG00000178053ENST00000651874P58340
ENSG00000178053ENST00000651874A0A140VKD2
ENSG00000178053ENST00000651984A0A494C1P6
ENSG00000178053ENST00000652045A0A494C1S3

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202

References

Pubmed IDYearTitleCitations
179751192008Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.65
285451282017Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma.21
190230992009Gene variants associated with ischemic stroke: the cardiovascular health study.16
121769952002MADM, a novel adaptor protein that mediates phosphorylation of the 14-3-3 binding site of myeloid leukemia factor 1.12
179678692008Shuttling imbalance of MLF1 results in p53 instability and increases susceptibility to oncogenic transformation.10
221510542012Structural insights of the MLF1/14-3-3 interaction.8
178548342008Non-pathogenic protein aggregates in skeletal muscle in MLF1 transgenic mice.7
204715132010Detection 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.7
278401552017Modulation of mutant Huntingtin aggregates and toxicity by human myeloid leukemia factors.4
145066442003Detection of NPM/MLF1 fusion in t(3;5)-positive acute myeloid leukemia and myelodysplasia.3

Citation

Jean-Loup Huret

MLF1 (myelodysplasia/myeloid leukemia factor 1)

Atlas Genet Cytogenet Oncol Haematol. 1997-12-01

Online version: http://atlasgeneticsoncology.org/gene/18/mlf1