MLLT3 MLLT3 super elongation complex subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: MLLT3provided by HGNC
Official Full Name: MLLT3 super elongation complex subunitprovided by HGNC
Primary source: HGNC:HGNC:7136
See related: Ensembl:ENSG00000171843 MIM:159558; AllianceGenome:HGNC:7136
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AF9; YEATS3
Summary: Enables chromatin binding activity; lysine-acetylated histone binding activity; and molecular adaptor activity. Involved in several processes, including hematopoietic stem cell differentiation; positive regulation of DNA-templated transcription; and regulation of stem cell division. Acts upstream of or within negative regulation of canonical Wnt signaling pathway and positive regulation of Wnt signaling pathway, planar cell polarity pathway. Located in cytosol and nucleoplasm. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thyroid (RPKM 6.2), colon (RPKM 4.6) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p21.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (20341669..20622499, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (20355454..20636229, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (20341667..20622498, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MLL-AF9 regulates transcriptional initiation in mixed lineage leukemic cells.
Title: MLL-AF9 regulates transcriptional initiation in mixed lineage leukemic cells.
Impact of MLL::AF9 Gene Rearrangement on Survival of Acute Myeloid Leukaemia Patients: An Insight into Pakistani Population.
Title: Impact of MLL::AF9 Gene Rearrangement on Survival of Acute Myeloid Leukaemia Patients: An Insight into Pakistani Population.
AF9 sustains glycolysis in colorectal cancer via H3K9ac-mediated PCK2 and FBP1 transcription.
Title: AF9 sustains glycolysis in colorectal cancer via H3K9ac-mediated PCK2 and FBP1 transcription.
Molecular Recognition of Methacryllysine and Crotonyllysine by the AF9 YEATS Domain.
Title: Molecular Recognition of Methacryllysine and Crotonyllysine by the AF9 YEATS Domain.
The adverse impact of ecotropic viral integration site-1 (EVI1) overexpression on the prognosis of acute myeloid leukemia with KMT2A gene rearrangement in different risk stratification subtypes.
Title: The adverse impact of ecotropic viral integration site-1 (EVI1) overexpression on the prognosis of acute myeloid leukemia with KMT2A gene rearrangement in different risk stratification subtypes.
BCOR Binding to MLL-AF9 Is Essential for Leukemia via Altered EYA1, SIX, and MYC Activity.
Title: BCOR Binding to MLL-AF9 Is Essential for Leukemia via Altered EYA1, SIX, and MYC Activity.
The Intrinsically Disordered Proteins MLLT3 (AF9) and MLLT1 (ENL) - Multimodal Transcriptional Switches With Roles in Normal Hematopoiesis, MLL Fusion Leukemia, and Kidney Cancer.
Title: The Intrinsically Disordered Proteins MLLT3 (AF9) and MLLT1 (ENL) - Multimodal Transcriptional Switches With Roles in Normal Hematopoiesis, MLL Fusion Leukemia, and Kidney Cancer.
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.
The miR-5694/AF9/Snail Axis Provides Metastatic Advantages and a Therapeutic Target in Basal-like Breast Cancer.
Title: The miR-5694/AF9/Snail Axis Provides Metastatic Advantages and a Therapeutic Target in Basal-like Breast Cancer.
Relationships between AML1-ETO and MLL-AF9 fusion gene expressions and hematological parameters in acute myeloid leukemia.
Title: Relationships between AML1-ETO and MLL-AF9 fusion gene expressions and hematological parameters in acute myeloid leukemia.

Submit: New GeneRIF Correction See all GeneRIFs (46)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat forms at least two distinct P-TEFb-containing complexes. Tatcom1 is composed of P-TEFb, AF9, ENL, ELL, AFF1, AFF4, and PAF1, presenting strong CTD-kinase activity, while Tatcom2 consists of 7SK, LARP7, and MEPCE with two molecules of Tat/P-TEFb	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-83267 (e-PCR)
- UniSTS:101148

BE111905 (e-PCR)
- UniSTS:245811

D9S1778 (e-PCR), detects polymorphism
- UniSTS:16194

RH11443 (e-PCR)
- UniSTS:69187

G15985 (e-PCR)
- UniSTS:47687

MLLT3__6320 (e-PCR)
- UniSTS:471671

SHGC-53630 (e-PCR)
- UniSTS:34192

D9S1886 (e-PCR)
- UniSTS:57746

RH120095 (e-PCR)
- UniSTS:132300

GDB:373748 (e-PCR)
- UniSTS:156927

Gene Ontology Provided by GOA

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	IDA Inferred from Direct Assay more info	PubMed
enables histone binding	IDA Inferred from Direct Assay more info	PubMed
enables lysine-acetylated histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables lysine-acetylated histone binding	IDA Inferred from Direct Assay more info	PubMed
enables modification-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables molecular adaptor activity	EXP Inferred from Experiment more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in hematopoietic stem cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of canonical Wnt signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of Wnt signaling pathway, planar cell polarity pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of chromatin organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of stem cell division	IDA Inferred from Direct Assay more info	PubMed
involved_in segment specification	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed
part_of transcription elongation factor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription elongation factor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein AF-9

Names: ALL1-fused gene from chromosome 9 protein; KMT2A/MLLT3 fusion protein; YEATS domain-containing protein 3; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 3; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3; myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein; myeloid/lymphoid or mixed-lineage leukemia; translocated to 3

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_001286691.2 → NP_001273620.1 protein AF-9 isoform b

See identical proteins and their annotated locations for NP_001273620.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate 5' exon and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AK301474, AL512635, DC306929

Consensus CDS

CCDS69579.1

UniProtKB/TrEMBL

B7Z4N5

Related

ENSP00000485996.1, ENST00000630269.2

Conserved Domains (2) summary

cd16906
Location:6 → 134

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

pfam17793
Location:500 → 560

AHD; ANC1 homology domain (AHD)
NM_004529.4 → NP_004520.2 protein AF-9 isoform a

See identical proteins and their annotated locations for NP_004520.2

Status: VALIDATED

Description

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

Source sequence(s)

AL512635, BC036089, L13744

Consensus CDS

CCDS6494.1

UniProtKB/Swiss-Prot

B1AMQ2, B2R7B3, B7Z755, D3DRJ8, P42568, Q8IVB0

UniProtKB/TrEMBL

A0A0S2Z448, B7Z4N5

Related

ENSP00000369695.4, ENST00000380338.9

Conserved Domains (2) summary

cd16906
Location:9 → 137

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

pfam17793
Location:503 → 563

AHD; ANC1 homology domain (AHD)