Mllt3 myeloid/lymphoid or mixed-lineage leukemia; translocated to, 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mllt3provided by MGI
Official Full Name: myeloid/lymphoid or mixed-lineage leukemia; translocated to, 3provided by MGI
Primary source: MGI:MGI:1917372
See related: Ensembl:ENSMUSG00000028496 AllianceGenome:MGI:1917372
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Af9; D4Ertd321e; 2210011H10Rik; 2610012I03Rik; 3830408D16Rik
Summary: Predicted to enable chromatin binding activity and lysine-acetylated histone binding activity. Acts upstream of or within anterior/posterior pattern specification; gene expression; and segment specification. Located in nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; limb; and limb bud. Orthologous to human MLLT3 (MLLT3 super elongation complex subunit). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in whole brain E14.5 (RPKM 9.1), CNS E14 (RPKM 9.1) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 C4; 4 41.06 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (87688162..87951652, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (87769925..88033407, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Transcriptional Coactivator, ALL1-Fused Gene From Chromosome 9, Simultaneously Sustains Hypoxia Tolerance and Metabolic Advantages in Liver Cancer.
Title: The Transcriptional Coactivator, ALL1-Fused Gene From Chromosome 9, Simultaneously Sustains Hypoxia Tolerance and Metabolic Advantages in Liver Cancer.
CRISPR Gene Editing of Murine Blood Stem and Progenitor Cells Induces MLL-AF9 Chromosomal Translocation and MLL-AF9 Leukaemogenesis.
Title: CRISPR Gene Editing of Murine Blood Stem and Progenitor Cells Induces MLL-AF9 Chromosomal Translocation and MLL-AF9 Leukaemogenesis.
Heritable genetic background alters survival and phenotype of Mll-AF9-induced leukemias.
Title: Heritable genetic background alters survival and phenotype of Mll-AF9-induced leukemias.
Atg5-dependent autophagy contributes to the development of acute myeloid leukemia in an MLL-AF9-driven mouse model.
Title: Atg5-dependent autophagy contributes to the development of acute myeloid leukemia in an MLL-AF9-driven mouse model.
YEATS domain of AF9 directly links histone crotonylation to active transcription.
Title: Molecular Coupling of Histone Crotonylation and Active Transcription by AF9 YEATS Domain.
Data suggest that RAS-homolog enriched in brain protein (Rheb1) promotes MLL-AF9 fusion protein initiated acute myeloid leukemia (AML) progression through target of rapamycin complex 1 (mTORC1) signaling pathway.
Title: Rheb1 promotes tumor progression through mTORC1 in MLL-AF9-initiated murine acute myeloid leukemia.
Using a PDK1 conditional deletion MLL-AF9 murine AML model, we revealed that the deletion of PDK1 prolonged the survival of AML mice by inducing LSC apoptosis
Title: Phosphoinositide-dependent kinase 1 regulates leukemia stem cell maintenance in MLL-AF9-induced murine acute myeloid leukemia.
define a specific pairing of two amino acids that creates a salt bridge between MLLT1/3 and AFF proteins that is critically important for MLL-mediated transformation of HPCs
Title: Importance of a specific amino acid pairing for murine MLL leukemias driven by MLLT1/3 or AFF1/4.
Af9 mediates site-selective physical and functional recruitment of Rnf2 to the alpha-ENaC promoter to constrain basal alpha-ENaC transcription in collecting duct cells.
Title: Physical and functional interaction of Rnf2 with Af9 regulates basal and aldosterone-stimulated transcription of the α-ENaC gene in a renal collecting duct cell line.
Impaired alphaENaC expression due to failure to inhibit Dot1a-Af9 may play an important role in the early stages of pseudohypoaldosteronism type 1 in MR(-/-) mice.
Title: Mineralocorticoid receptor antagonizes Dot1a-Af9 complex to increase αENaC transcription.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (6) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D4Dcr10 (e-PCR), detects polymorphism
- UniSTS:507683

19.MMHAP75FLG1.seq (e-PCR)
- UniSTS:123436

BE111905 (e-PCR)
- UniSTS:245811

D4Mit349 (e-PCR), detects polymorphism
- UniSTS:130143

Mllt3 (e-PCR), detects polymorphism
- UniSTS:243309

39.MMHAP57FLE6.seq (e-PCR)
- UniSTS:124325

NoName (e-PCR)
- UniSTS:234961

RH126953 (e-PCR)
- UniSTS:167387

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables histone binding	ISO Inferred from Sequence Orthology more info
enables lysine-acetylated histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables lysine-acetylated histone binding	ISO Inferred from Sequence Orthology more info
enables modification-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hematopoietic stem cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of Wnt signaling pathway, planar cell polarity pathway	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of chromatin organization	ISO Inferred from Sequence Orthology more info
involved_in regulation of stem cell division	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within segment specification	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription elongation factor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription elongation factor complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein AF-9

Names: myeloid/lymphoid or mixed lineage-leukemia translocation to 3 homolog; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3; myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein homolog

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.

mRNA and Protein(s)

NM_001286158.2 → NP_001273087.1 protein AF-9 isoform 3

See identical proteins and their annotated locations for NP_001273087.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate 5' exon structure, initiates translation at a downstream start codon and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.

Source sequence(s)

AL806533, AL929524

Consensus CDS

CCDS71418.1

UniProtKB/TrEMBL

Q9D2P1

Related

ENSMUSP00000129523.2, ENSMUST00000126353.8

Conserved Domains (1) summary

pfam17793
Location:81 → 133

AHD; ANC1 homology domain (AHD)
NM_001404955.1 → NP_001391884.1 protein AF-9 isoform 4

Status: VALIDATED

Source sequence(s)

AL806533, AL831756, AL929524
NM_001404956.1 → NP_001391885.1 protein AF-9 isoform 5

Status: VALIDATED

Source sequence(s)

AL806533, AL831756, AL929524
NM_001404957.1 → NP_001391886.1 protein AF-9 isoform 6

Status: VALIDATED

Source sequence(s)

AL806533, AL831756, AL929524
NM_001404958.1 → NP_001391887.1 protein AF-9 isoform 7

Status: VALIDATED

Source sequence(s)

AL806533, AL929524
NM_027326.4 → NP_081602.3 protein AF-9 isoform 1

See identical proteins and their annotated locations for NP_081602.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL806533, AL831756, AL929524

Consensus CDS

CCDS38796.1

UniProtKB/Swiss-Prot

A2AM29, Q8VDR6, Q99MK4

Related

ENSMUSP00000077232.6, ENSMUST00000078090.12

Conserved Domains (1) summary

pfam03366
Location:29 → 109

YEATS; YEATS family
NM_029931.4 → NP_084207.2 protein AF-9 isoform 2

See identical proteins and their annotated locations for NP_084207.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks several exons, uses an alternate 5' exon structure and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AL806533, AL929524

Consensus CDS

CCDS38797.1

UniProtKB/TrEMBL

Q3UIA3

Related

ENSMUSP00000128366.2, ENSMUST00000149357.8

Conserved Domains (1) summary

pfam17793
Location:97 → 157

AHD; ANC1 homology domain (AHD)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

87688162..87951652 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036164412.1 → XP_036020305.1 protein AF-9 isoform X4

Conserved Domains (1) summary

pfam17793
Location:305 → 365

AHD; ANC1 homology domain (AHD)
XM_030253773.1 → XP_030109633.1 protein AF-9 isoform X4

Conserved Domains (1) summary

pfam17793
Location:305 → 365

AHD; ANC1 homology domain (AHD)
XM_006538253.4 → XP_006538316.1 protein AF-9 isoform X4

See identical proteins and their annotated locations for XP_006538316.1

Conserved Domains (1) summary

pfam17793
Location:305 → 365

AHD; ANC1 homology domain (AHD)
XM_036164411.1 → XP_036020304.1 protein AF-9 isoform X3

Conserved Domains (1) summary

cd16906
Location:9 → 137

YEATS_AF-9_like; YEATS domain found in ENL and AF-9-like proteins