MLF1 (myeloid leukemia factor 1)

Gene

• Entrez ID: 4291
• Gene name: Myeloid leukemia factor 1
• Gene symbol: MLF1
• Synonyms (NCBI Gene): -
• Chromosome: 3
• Chromosome location: 3q25.32
• 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. Multipl

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT043951	hsa-miR-378a-3p	CLASH	23622248
MIRT042653	hsa-miR-422a	CLASH	23622248
MIRT1150959	hsa-miR-4698	CLIP-seq
MIRT1150960	hsa-miR-802	CLIP-seq
MIRT1150961	hsa-miR-105	CLIP-seq
MIRT1150962	hsa-miR-1323	CLIP-seq
MIRT1150963	hsa-miR-548o	CLIP-seq
MIRT2043054	hsa-miR-23a	CLIP-seq
MIRT2043055	hsa-miR-23b	CLIP-seq
MIRT2043056	hsa-miR-23c	CLIP-seq
MIRT2043057	hsa-miR-3647-3p	CLIP-seq
MIRT2043058	hsa-miR-3680	CLIP-seq
MIRT2043059	hsa-miR-4282	CLIP-seq
MIRT1150959	hsa-miR-4698	CLIP-seq
MIRT2043060	hsa-miR-4798-3p	CLIP-seq
MIRT2043061	hsa-miR-653	CLIP-seq
MIRT2272538	hsa-miR-543	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002318	Process	Myeloid progenitor cell differentiation	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS
GO:0005515	Function	Protein binding	IPI	12176995, 15861129, 16189514, 20374249, 22151054, 23414517, 25036637, 26871637, 28514442, 31515488, 33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0006351	Process	DNA-templated transcription	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0019904	Function	Protein domain specific binding	IDA	12176995
GO:0030154	Process	Cell differentiation	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0042995	Component	Cell projection	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	15861129
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	IPI	15861129
GO:1902806	Process	Regulation of cell cycle G1/S phase transition	IPI	15861129

Other IDs

• MIM: 601402
• HGNC: 7125
• e!Ensembl: ENSG00000178053

Protein

• UniProt ID: P58340
• Protein name: Myeloid leukemia factor 1 (Myelodysplasia-myeloid leukemia factor 1)
• Protein 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
• PDB: 3UAL, 3UBW, 6Y8E
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10248	Mlf1IP	26 → 202	Myelodysplasia-myeloid leukemia factor 1-interacting protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Most abundant in testis, ovary, skeletal muscle, heart, kidney and colon. Low expression in spleen, thymus and peripheral blood leukocytes.
• Sequence:

  MFRMLNSSFEDDPFFSESILAHRENMRQMIRSFSEPFGRDLLSISDGRGRAHNRRGHNDG
  EDSLTHTDVSSFQTMDQMVSNMRNYMQKLERNFGQLSVDPNGHSFCSSSVMTYSKIGDEP
  PKVFQASTQTRRAPGGIKETRKAMRDSDSGLEKMAIGHHIHDRAHVIKKSKNKKTGDEEV
  NQEFINMNESDAHAFDEEWQSEVLKYKPGRHNLGNTRMRSVGHENPGSRELKRREKPQQS
  PAIEHGRRSNVLGDKLHIKGSSVKSNKK

• Sequence length: 268

Pathways

KEGG:

Transcriptional misregulation in cancer

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DILATED CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MLF1-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	8570204		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	29296815		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia with multilineage dysplasia	Myeloid Leukemia With Multilineage Dysplasia	BEFREE	14506644		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	16984370		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	28358038	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28358038		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28087342		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	37486965	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	17854834		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myositis (disorder)	Inclusion Body Myositis	BEFREE	17854834		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10523300, 28137643, 31675375, 9328447		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	31675375	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25027285, 31648321, 31675375	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10391679, 10523300, 11021751, 14506644, 16984370, 18090933, 20471513, 25027285, 29296815, 31675375, 8570204, 8661158, 9328447, 9595039		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	28137643		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19375421		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16341035, 31675375		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	18090933		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Oculopharyngeal	Oculopharyngeal Muscular Dystrophy	BEFREE	17854834		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	14506644		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	10391679, 11021751, 14506644, 16984370, 18090933, 20471513, 8661158, 9328447		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	39711284	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12080348, 29296815		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28545128		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	28545128	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	17854834		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19375421		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	16367923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	16367923, 19375421	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29340074		★☆☆☆☆ Found in Text Mining only