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    MLF1 myeloid leukemia factor 1 [ Homo sapiens (human) ]

    Gene ID: 4291, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MLF1provided by HGNC
    Official Full Name
    myeloid leukemia factor 1provided by HGNC
    Primary source
    HGNC:HGNC:7125
    See related
    Ensembl:ENSG00000178053 MIM:601402; AllianceGenome:HGNC:7125
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    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]
    Expression
    Biased expression in testis (RPKM 97.9), heart (RPKM 24.2) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MLF1 in Genome Data Viewer
    Location:
    3q25.32
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (158571194..158606456)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (161346308..161381560)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (158288983..158324245)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene arginine and serine rich coiled-coil 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:158260149-158260366 Neighboring gene long non-coding RNA uc.134 Neighboring gene MLF1 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:158344231-158344732 Neighboring gene methylthioadenosine phosphorylase pseudogene 1 Neighboring gene RFK pseudogene 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Epigenetic deregulation of MLF1 drives intrahepatic cholangiocarcinoma progression through EGFR/AKT and Wnt/β-catenin signaling. Tang Z, et al. Hepatol Commun, 2023 Aug 1. PMID 37486965, Free PMC Article
    2. Detection of NPM/MLF1 fusion in t(3;5)-positive acute myeloid leukemia and myelodysplasia. Arber DA, et al. Hum Pathol, 2003 Aug. PMID 14506644
    3. Non-pathogenic protein aggregates in skeletal muscle in MLF1 transgenic mice. Li ZF, et al. J Neurol Sci, 2008 Jan 15. PMID 17854834
    4. 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. Lim G, et al. Cancer Genet Cytogenet, 2010 Jun. PMID 20471513
    5. NPM and NPM-MLF1 interact with chromatin remodeling complexes and influence their recruitment to specific genes. Darracq A, et al. PLoS Genet, 2019 Nov. PMID 31675375, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Epigenetic deregulation of MLF1 drives intrahepatic cholangiocarcinoma progression through EGFR/AKT and Wnt/beta-catenin signaling.
      Title: Epigenetic deregulation of MLF1 drives intrahepatic cholangiocarcinoma progression through EGFR/AKT and Wnt/β-catenin signaling.
    2. CRL4(DCAF8) and USP11 oppositely regulate the stability of myeloid leukemia factors (MLFs).
      Title: CRL4(DCAF8) and USP11 oppositely regulate the stability of myeloid leukemia factors (MLFs).
    3. the abnormal gene regulation imposed by NPM-MLF1 can be characterized by the enhanced recruitment of NuRD to gene regulatory regions. Thus, different mechanisms would orchestrate the dysregulation of NPM function in NPMc+- versus NPM1-MLF1-associated leukemia.
      Title: NPM and NPM-MLF1 interact with chromatin remodeling complexes and influence their recruitment to specific genes.
    4. Mutation in HTT causes Huntington's disease (HD); aggregates of mutated HTT cause apoptosis in neurons of HD patients. Data suggest that both MLF1 and MLF2 preferentially interact with mutated N-terminal HTT; MLF1/MLF2 reduce number of neurons (Neuro2A cell line) containing mutant HTT aggregates and subsequent apoptosis. (HTT = Huntingtin protein; MLF = myeloid leukemia factor)
      Title: Modulation of mutant Huntingtin aggregates and toxicity by human myeloid leukemia factors.
    5. The data indicate that MLF1 serves as a proapoptotic antagonist that interacts with the HAX1/HtrA2-OMI/PARL (HOP) mitochondrial complex to modulate cell survival.
      Title: MLF1 is a proapoptotic antagonist of HOP complex-mediated survival.
    6. These findings suggest that MLF and the associated co-chaperones play a direct role in modulating gene transcription.
      Title: Myeloid Leukemia Factor Acts in a Chaperone Complex to Regulate Transcription Factor Stability and Gene Expression.
    7. SNP associated with neuroblastoma resides upstream of the MLF1. Gene silencing of MLF1 in neuroblastoma cells results in significant growth inhibition.
      Title: Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma.
    8. Data indicte that acute myeloid leukemia (AML) with NPM1-MLF1 and AML with NPM1 mutations showed similar immunophenotypical and molecular features, including gene mutation patterns and gene expression profiling (GEP).
      Title: Acute myeloid leukemia with translocation t(3;5): new molecular insights.
    9. The subcellular localization of full-length human MLF1 is 14-3-3epsilon-independent.
      Title: Subcellular localization of full-length human myeloid leukemia factor 1 (MLF1) is independent of 14-3-3 proteins.
    10. 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
      Title: NPM-MLF1 synergizes with Npm haploinsufficiency to enhance myeloid progenitor activity.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in myeloid progenitor cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_negative_effect regulation of cell cycle G1/S phase transition IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    acts_upstream_of_positive_effect regulation of signal transduction by p53 class mediator IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    myeloid leukemia factor 1
    Names
    myelodysplasia-myeloid leukemia factor 1
    testis tissue sperm-binding protein Li 49e

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027720.1 RefSeqGene

      Range
      5031..40293
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1388

    mRNA and Protein(s)

    1. NM_001130156.3 → NP_001123628.1  myeloid leukemia factor 1 isoform 2

      See identical proteins and their annotated locations for NP_001123628.1

      Status: REVIEWED

      Source sequence(s)
      AY848702, BX647666, DB455518
      Consensus CDS
      CCDS46945.1
      UniProtKB/TrEMBL
      A0A140VKD2, Q2TLE4
      Related
      ENSP00000352025.5, ENST00000359117.9
      Conserved Domains (1) summary
      pfam10248
      Location:1 → 177
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    2. NM_001130157.3 → NP_001123629.1  myeloid leukemia factor 1 isoform 2

      See identical proteins and their annotated locations for NP_001123629.1

      Status: REVIEWED

      Source sequence(s)
      AC025033, AY848701, BX647666, DB455518
      Consensus CDS
      CCDS46945.1
      UniProtKB/TrEMBL
      A0A140VKD2, Q2TLE4
      Related
      ENSP00000417835.1, ENST00000484955.5
      Conserved Domains (1) summary
      pfam10248
      Location:1 → 177
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    3. NM_001195432.4 → NP_001182361.2  myeloid leukemia factor 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC106707
      Consensus CDS
      CCDS56287.1
      UniProtKB/TrEMBL
      Q5HYH4
      Related
      ENSP00000417777.4, ENST00000478894.7
      Conserved Domains (1) summary
      pfam10248
      Location:1 → 192
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    4. NM_001195433.2 → NP_001182362.1  myeloid leukemia factor 1 isoform 4

      See identical proteins and their annotated locations for NP_001182362.1

      Status: REVIEWED

      Source sequence(s)
      AY848700, BX647666, DB455518
      Consensus CDS
      CCDS56288.1
      UniProtKB/TrEMBL
      Q2TLE4
      Related
      ENSP00000418595.1, ENST00000469452.5
      Conserved Domains (1) summary
      pfam10248
      Location:2 → 134
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    5. NM_001195434.2 → NP_001182363.1  myeloid leukemia factor 1 isoform 5

      See identical proteins and their annotated locations for NP_001182363.1

      Status: REVIEWED

      Source sequence(s)
      AK056948, BX647666
      Consensus CDS
      CCDS56287.1
      UniProtKB/TrEMBL
      Q5HYH4
      Related
      ENSP00000420134.1, ENST00000471745.5
      Conserved Domains (1) summary
      pfam10248
      Location:1 → 192
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    6. NM_001369781.1 → NP_001356710.1  myeloid leukemia factor 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC106707
      Consensus CDS
      CCDS93416.1
      UniProtKB/TrEMBL
      A0A499FJ64, Q2TLE4
      Related
      ENSP00000483337.2, ENST00000619577.5
      Conserved Domains (1) summary
      pfam10248
      Location:30 → 157
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    7. NM_001369782.1 → NP_001356711.1  myeloid leukemia factor 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC106707, KU178188
      Consensus CDS
      CCDS93417.1
      UniProtKB/TrEMBL
      C9JNE5
      Related
      ENSP00000420410.2, ENST00000491767.6
      Conserved Domains (1) summary
      pfam10248
      Location:1 → 128
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    8. NM_001369783.1 → NP_001356712.1  myeloid leukemia factor 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC106707, KU178187
      Consensus CDS
      CCDS93414.1
      UniProtKB/TrEMBL
      A0A0S2Z4A4, B2RD48, C9J3M3
      Related
      ENSP00000417278.2, ENST00000466246.7
      Conserved Domains (1) summary
      pfam10248
      Location:90 → 217
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    9. NM_001369784.1 → NP_001356713.1  myeloid leukemia factor 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC106707
      Consensus CDS
      CCDS46945.1
      UniProtKB/TrEMBL
      A0A140VKD2, Q2TLE4
      Conserved Domains (1) summary
      pfam10248
      Location:1 → 177
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    10. NM_001369785.1 → NP_001356714.1  myeloid leukemia factor 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC106707
      Consensus CDS
      CCDS56287.1
      UniProtKB/TrEMBL
      Q5HYH4
      Related
      ENSP00000419637.2, ENST00000477042.6
      Conserved Domains (1) summary
      pfam10248
      Location:1 → 192
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    11. NM_001378845.1 → NP_001365774.1  myeloid leukemia factor 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC106707
      UniProtKB/TrEMBL
      B2RD48
      Conserved Domains (1) summary
      pfam10248
      Location:26 → 202
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    12. NM_001378846.1 → NP_001365775.1  myeloid leukemia factor 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC106707
      Consensus CDS
      CCDS56287.1
      UniProtKB/TrEMBL
      Q5HYH4
      Conserved Domains (1) summary
      pfam10248
      Location:1 → 192
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    13. NM_001378847.1 → NP_001365776.1  myeloid leukemia factor 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC106707
      Consensus CDS
      CCDS46945.1
      UniProtKB/TrEMBL
      A0A140VKD2, Q2TLE4
      Related
      ENSP00000499162.2, ENST00000651984.1
      Conserved Domains (1) summary
      pfam10248
      Location:1 → 177
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    14. NM_001378848.1 → NP_001365777.1  myeloid leukemia factor 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC106707
      Consensus CDS
      CCDS46945.1
      UniProtKB/TrEMBL
      A0A140VKD2, Q2TLE4
      Related
      ENSP00000498363.1, ENST00000651874.1
      Conserved Domains (1) summary
      pfam10248
      Location:1 → 177
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    15. NM_001378850.1 → NP_001365779.1  myeloid leukemia factor 1 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC106707
      UniProtKB/TrEMBL
      B2RD48
      Conserved Domains (1) summary
      pfam10248
      Location:1 → 177
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    16. NM_001378851.1 → NP_001365780.1  myeloid leukemia factor 1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC106707
      Consensus CDS
      CCDS93413.1
      UniProtKB/TrEMBL
      B2RD48, C9K0D4
      Related
      ENSP00000419636.2, ENST00000498592.6
      Conserved Domains (1) summary
      pfam10248
      Location:37 → 174
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    17. NM_001378852.1 → NP_001365781.1  myeloid leukemia factor 1 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC106707
      Consensus CDS
      CCDS93415.1
      UniProtKB/TrEMBL
      A0A494C175
      Related
      ENSP00000498915.1, ENST00000650753.1
      Conserved Domains (1) summary
      pfam10248
      Location:26 → 189
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    18. NM_001378853.1 → NP_001365782.1  myeloid leukemia factor 1 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC106707
      UniProtKB/TrEMBL
      Q2TLE4
      Conserved Domains (1) summary
      pfam10248
      Location:1 → 177
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    19. NM_001378855.1 → NP_001365784.1  myeloid leukemia factor 1 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC106707
      Conserved Domains (1) summary
      pfam10248
      Location:1 → 164
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    20. NM_022443.5 → NP_071888.1  myeloid leukemia factor 1 isoform 1

      See identical proteins and their annotated locations for NP_071888.1

      Status: REVIEWED

      Source sequence(s)
      AA707847, AC025033, AK315402, KU178186
      Consensus CDS
      CCDS3182.1
      UniProtKB/Swiss-Prot
      E9PEU9, P58340, Q2TLE3, Q2TLE5, Q8N8F8, Q96MH1
      UniProtKB/TrEMBL
      A0A0S2Z4U8, B2RD48
      Related
      ENSP00000348157.5, ENST00000355893.11
      Conserved Domains (1) summary
      pfam10248
      Location:75 → 202
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      158571194..158606456
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      161346308..161381560
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P58340.1 GenPept UniProtKB/Swiss-Prot:P58340

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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