Human Gene MLF1 (uc003fca.3)
  Description: Homo sapiens myeloid leukemia factor 1 (MLF1), transcript variant 3, mRNA.
RefSeq Summary (NM_001130156): 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 (Including UTRs)
   Position: hg19 chr3:158,288,953-158,324,249 Size: 35,297 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr3:158,310,251-158,322,991 Size: 12,741 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:158,288,953-158,324,249)mRNA (may differ from genome)Protein (243 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MLF1_HUMAN
DESCRIPTION: RecName: Full=Myeloid leukemia factor 1; AltName: Full=Myelodysplasia-myeloid leukemia factor 1;
FUNCTION: Involved in lineage commitment of primary hemopoietic progenitors by restricting erythroid formation and enhancing myeloid formation. Interferes with erythropoietin-induced erythroid terminal differentiation by preventing cells from exiting the cell cycle through suppression of CDKN1B/p27Kip1 levels. Suppresses RFWD2/COP1 activity via CSN3 which activates p53 and induces cell cycle arrest. Binds DNA and affects the expression of a number of genes so may function as a transcription factor in the nucleus.
SUBUNIT: Interacts with MLF1IP. Also interacts with NRBP1/MADM, YWHAZ/14-3-3-zeta and HNRPUL2/MANP. NRBP1 recruits a serine kinase which phosphorylates both itself and MLF1. Phosphorylated MLF1 then binds to YWHAZ and is retained in the cytoplasm. Retained in the nucleus by binding to HNRPUL2. Binds to COPS3/CSN3 which is required for suppression of RFWD2 and activation of p53.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=In non- hematopoietic cells, resides primarily in the cytoplasm with some punctate nuclear localization. Shuttles between the cytoplasm and nucleus. In hematopoietic cells, located preferentially in the nucleus. Found in the nucleolus when fused to NPM.
TISSUE SPECIFICITY: Most abundant in testis, ovary, skeletal muscle, heart, kidney and colon. Low expression in spleen, thymus and peripheral blood leukocytes.
PTM: Phosphorylation is required for binding to YWHAZ (By similarity).
DISEASE: Note=A chromosomal aberration involving MLF1 is a cause of myelodysplastic syndrome (MDS). Translocation t(3;5)(q25.1;q34) with NPM1/NPM.
SIMILARITY: Belongs to the MLF family.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MLF1.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MLF1
CDC HuGE Published Literature: MLF1

-  MalaCards Disease Associations
  MalaCards Gene Search: MLF1
Diseases sorted by gene-association score: myeloid leukemia (45), leukemia, acute myeloid* (32), myelodysplastic syndrome (17), leukemia (15)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 138.14 RPKM in Testis
Total median expression: 318.29 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -100.44256-0.392 Picture PostScript Text
3' UTR -244.581258-0.194 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019376 - Myeloid_leukemia_factor

Pfam Domains:
PF10248 - Myelodysplasia-myeloid leukemia factor 1-interacting protein

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3UAL - X-ray MuPIT 3UBW - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P58340
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0019904 protein domain specific binding

Biological Process:
GO:0002318 myeloid progenitor cell differentiation
GO:0006351 transcription, DNA-templated
GO:0007049 cell cycle
GO:0007050 cell cycle arrest
GO:0007275 multicellular organism development
GO:0030154 cell differentiation

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  HM005672 - Homo sapiens clone HTL-T-49e testis tissue sperm-binding protein Li 49e mRNA, complete cds.
AK315402 - Homo sapiens cDNA, FLJ96451, highly similar to Homo sapiens myeloid leukemia factor 1 (MLF1), mRNA.
AK056948 - Homo sapiens cDNA FLJ32386 fis, clone SKMUS1000118, highly similar to Homo sapiens t(3;5)(q25.1;p34) fusion gene NPM-MLF1 mRNA.
BC095437 - Homo sapiens cDNA clone IMAGE:30720866, containing frame-shift errors.
BX647666 - Homo sapiens mRNA; cDNA DKFZp313B1621 (from clone DKFZp313B1621).
AY848701 - Homo sapiens myeloid leukemia factor 1 variant 2 (MLF1) mRNA, complete cds, alternatively spliced.
BC007045 - Homo sapiens myeloid leukemia factor 1, mRNA (cDNA clone MGC:12449 IMAGE:3996145), complete cds.
AY848700 - Homo sapiens myeloid leukemia factor 1 variant 1 (MLF1) mRNA, complete cds, alternatively spliced.
AY848702 - Homo sapiens myeloid leukemia factor 1 variant 3 (MLF1) mRNA, complete cds, alternatively spliced.
L49054 - Homo sapiens t(3;5)(q25.1;p34) fusion gene NPM-MLF1 mRNA, complete cds.
JD396399 - Sequence 377423 from Patent EP1572962.
AK297488 - Homo sapiens cDNA FLJ52995 complete cds, highly similar to Myeloid leukemia factor 1.
AK096889 - Homo sapiens cDNA FLJ39570 fis, clone SKMUS2001850, highly similar to Homo sapiens t(3;5)(q25.1;p34) fusion gene NPM-MLF1 mRNA.
JD128586 - Sequence 109610 from Patent EP1572962.
JD334592 - Sequence 315616 from Patent EP1572962.
KU178186 - Homo sapiens myeloid leukemia factor 1 isoform 1 (MLF1) mRNA, partial cds.
KU178187 - Homo sapiens myeloid leukemia factor 1 isoform 2 (MLF1) mRNA, partial cds, alternatively spliced.
KU178188 - Homo sapiens myeloid leukemia factor 1 isoform 5 (MLF1) mRNA, complete cds, alternatively spliced.
KJ891624 - Synthetic construct Homo sapiens clone ccsbBroadEn_01018 MLF1 gene, encodes complete protein.
HZ473921 - WO 2016002844-A/35: ANTI-INVASIVE/ANTI-METASTATIC DRUG FOR PANCREATIC CANCER CELL.
HZ473919 - WO 2016002844-A/33: ANTI-INVASIVE/ANTI-METASTATIC DRUG FOR PANCREATIC CANCER CELL.
HZ473922 - WO 2016002844-A/36: ANTI-INVASIVE/ANTI-METASTATIC DRUG FOR PANCREATIC CANCER CELL.
HZ473920 - WO 2016002844-A/34: ANTI-INVASIVE/ANTI-METASTATIC DRUG FOR PANCREATIC CANCER CELL.
BX641078 - Homo sapiens mRNA; cDNA DKFZp686A04129 (from clone DKFZp686A04129).

-  Other Names for This Gene
  Alternate Gene Symbols: E9PEU9, MLF1_HUMAN, NM_001130156, NP_001123629, P58340, Q2TLE3, Q2TLE5, Q8N8F8, Q96MH1
UCSC ID: uc003fca.3
RefSeq Accession: NM_001130156
Protein: P58340 (aka MLF1_HUMAN)
CCDS: CCDS46945.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001130156.2
exon count: 7CDS single in 3' UTR: no RNA size: 2263
ORF size: 732CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1567.00frame shift in genome: no % Coverage: 99.25
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.