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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

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