MLLT3 - MLLT3 super elongation complex subunit Gene

Also Known as AF9; YEATS3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4300

About MLLT3

Cytogenetic location: 9p21.3 Genomic coordinates (GRCh38): 9:20,341,669-20,622,499 (from NCBI)

This gene has 9 transcripts (splice variants), 259 orthologues, 2 paralogues and is associated with 85 phenotypes. Ubiquitous expression in thyroid (RPKM 6.2), colon (RPKM 4.6) and 23 other tissues.

Summary

Enables chromatin binding activity and lysine-acetylated histone binding activity. Involved in several processes, including hematopoietic stem cell differentiation; positive regulation of transcription, DNA-templated; 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, Apr 2022]

MLLT3 Products (2)

mRNA Protein Name
NM_001286691.2 NP_001273620.1 protein AF-9 isoform b
NM_004529.4 NP_004520.2 protein AF-9 isoform a
Molecular Function GO Annotation Evidence References Source
enables chromatin binding IDA
IDA: Inferred from direct assay
25417107 GOA
enables histone binding IDA
IDA: Inferred from direct assay
27105114 GOA
enables lysine-acetylated histone binding IDA
IDA: Inferred from direct assay
25417107 GOA
enables modification-dependent protein binding IDA
IDA: Inferred from direct assay
27105114 GOA
enables molecular adaptor activity EXP
EXP: Inferred from Experiment
23260655 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Cellular Component GO Annotation Evidence References Source
part of transcription elongation factor complex IDA
IDA: Inferred from direct assay
22195968 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MLLT3 Protein Structure

YEATS

YEATS: YEATS family (29 - 111)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 568 a.a.
Protein Preferred Names Protein Names

protein AF-9

  • ALL1-fused gene from chromosome 9 protein

MLLT3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MLLT3 P42568 ZNF572 Homo sapiens Q7Z3I7 32296183
Intra
MLLT3 P42568 ZNF572 Homo sapiens Q7Z3I7 32296183
Intra
MLLT3 P42568 ZNF572 Homo sapiens Q7Z3I7 32296183
Intra
MLLT3 P42568 VAX1 Homo sapiens Q5SQQ9-2 32296183
Intra
MLLT3 P42568 VAX1 Homo sapiens Q5SQQ9-2 32296183
Intra
MLLT3 P42568 VAX1 Homo sapiens Q5SQQ9-2 32296183
Intra
MLLT3 P42568 BCOR Homo sapiens Q6W2J9-1
NMR
23260655
Intra
MLLT3 P42568 BCOR Homo sapiens Q6W2J9-1 23260655
Intra
MLLT3 P42568 AFF1 Homo sapiens P51825
GMS
23260655
Intra
MLLT3 P42568 AFF1 Homo sapiens P51825
CD
23260655
Intra
MLLT3 P42568 AFF1 Homo sapiens P51825 21729782
Intra
MLLT3 P42568 AFF1 Homo sapiens P51825
NMR
23260655
Intra
MLLT3 P42568 AFF1 Homo sapiens P51825 23260655
Intra
MLLT3 P42568 DOT1L Homo sapiens Q8TEK3 23260655
Intra
MLLT3 P42568 DOT1L Homo sapiens Q8TEK3 20203130
Intra
MLLT3 P42568 DOT1L Homo sapiens Q8TEK3
NMR
23260655
Intra
MLLT3 P42568 DOT1L Homo sapiens Q8TEK3 20153263
Intra
MLLT3 P42568 MIIP Homo sapiens Q5JXC2 32296183
Intra
MLLT3 P42568 MIIP Homo sapiens Q5JXC2 32296183
Intra
MLLT3 P42568 MIIP Homo sapiens Q5JXC2 32296183
Intra
MLLT3 P42568 AFF4 Homo sapiens Q9UHB7 21729782
Intra
MLLT3 P42568 CBX8 Homo sapiens Q9HC52 23260655
Intra
MLLT3 P42568 CBX8 Homo sapiens Q9HC52
NMR
23260655
Intra
MLLT3 P42568 APPBP2 Homo sapiens Q92624 16189514
Intra
MLLT3 P42568 APPBP2 Homo sapiens Q92624 32296183
Intra
MLLT3 P42568 APPBP2 Homo sapiens Q92624 32296183
Intra
MLLT3 P42568 APPBP2 Homo sapiens Q92624 32296183
Intra
MLLT3 P42568 FAM9A Homo sapiens Q8IZU1 32296183
Intra
MLLT3 P42568 FAM9A Homo sapiens Q8IZU1 32296183
Intra
MLLT3 P42568 FAM9A Homo sapiens Q8IZU1 32296183
Intra
MLLT3 P42568 ALKBH4 Homo sapiens Q9NXW9 32296183
Intra
MLLT3 P42568 ALKBH4 Homo sapiens Q9NXW9
Y2H
23145062
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Acute Myeloid Leukemia With T(9;11)(P22;Q23)
  • Aml With T(9

  • 11)(P22

  • Q23)

Leukemia
  • Leukemias

  • Leukaemia, Unspecified, Without Mention Of Remission

  • Aleukemic Leukaemia

  • Chronic Leukaemia

  • Subacute Leukaemia

  • Leukaemia Disorder

  • Leukaemia Nos

Acute Leukemia
  • Stem Cell Leukaemia

  • Stem Cell Leukemia

  • Acute Leukemias

  • Acute Undifferentiated Leukemia

  • Undifferentiated Leukemia

  • Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission

  • Blast Cell Leukaemia

  • Blast Leukaemia

  • Blastic Leukaemia

  • Undifferentiated Leukaemia

Leukemia, Acute Lymphoblastic
  • Acute Lymphoblastic Leukemia

  • ALL

  • Acute Lymphocytic Leukemia

  • Leukemia, Acute Lymphocytic, Susceptibility To, 1

  • Acute Lymphoblastic Leukaemia

  • Precursor Lymphoblastic Lymphoma/Leukemia

  • Precursor Lymphoid Neoplasm

  • Leukemia, Acute Lymphoblastic, Susceptibility To

  • B-Cell Acute Lymphoblastic Leukemia

  • Leukemia, Acute Lymphocytic 1

  • Acute Lymphocytic Leukaemia

  • Acute Lymphoblastic Leukemia/Lymphoma

  • All1

  • Childhood Acute Lymphoblastic Leukemia

  • Leukemia Acute Lymphoblastic 1

  • Leukemia Acute Lymphoblastic B-Hyperdiploid

  • Leukemia Acute Lymphocytic

  • Leukemia Acute Lymphocytic 1

  • Leukemia B-Cell Acute Lymphoblastic

  • Leukemia T-Cell Acute Lymphoblastic

  • Leukemia, Acute Lymphoblastic, 3

  • ALL3

  • Lymphoblastic Leukemia Acute

  • Leukemia, Acute, Lymphoblastic

  • Precursor Cell Lymphoblastic Leukemia Lymphoma

  • Leukemia, Lymphocytic, Acute, L1

  • Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Childhood Leukemia
Neonatal Leukemia
Childhood Acute Myeloid Leukemia
  • Childhood Acute Myeloid Leukaemia

  • Paediatric Acute Myeloid Leukaemia

  • Pediatric Acute Myeloid Leukemia

Microphthalmia, Syndromic 2
  • Oculofaciocardiodental Syndrome

  • Ofcd Syndrome

  • MCOPS2

  • Microphthalmia, Cataracts, Radiculomegaly, And Septal Heart Defects

  • Syndromic Microphthalmia 2

  • Anop2

  • Cataract-Microphthalmia-Radiculomegaly-Cardiac Septal Defect Syndrome

  • Maa2

  • Microphthalmia Cataracts Radiculomegaly And Septal Heart Defects

  • Syndromic Microphthalmia Type 2

  • Oculo-Facio-Cardio-Dental Syndrome

  • Anop2, Formerly

  • Maa2, Formerly

  • Microphthalmia Syndromic 2

  • Oculo Facio Cardio Dental Syndrome

  • Microphthalmia, Syndromic, 2

  • Marashi-Gorlin Syndrome

  • Microphthalmia, Cataracts, Radiculomegaly And Septal Heart Defects

  • Microphthalmia, Syndromic, Type 2

Epilepsy
  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders

Acute Biphenotypic Leukemia
  • Mixed Phenotype Acute Leukemia

  • Acute Leukemia Of Ambiguous Lineage

  • Acute Undifferentiated Leukemia

  • Acute Leukemia Of Indeterminate Lineage

  • Hybrid Acute Leukemia

  • Mixed Lineage Acute Leukemia

  • All With Myeloid Markers

  • Aml With Lymphoid Markers

  • Acute Leukemia Of Undetermined Lineage

  • Bal

  • Biphenotypic Acute Leukemia

  • Undifferentiated Acute Leukemia

  • Mpal

  • Acute Myeloid Leukemia, Minimal Differentiation, Fab M0

  • Leukemia, Biphenotypic, Acute

Leukemia, Acute Monocytic
  • Acute Monocytic Leukemia

  • Acute Monoblastic Leukemia And Acute Monocytic Leukemia

  • Acute Monocytic Leukaemia

  • Acute Monocytic Leukaemia Without Mention Of Remission

  • Acute Monocytic Leukemia Without Mention Of Remission

  • Acute Monocytic Leukemia, Fab M5

  • Acute Monocytic Leukemia, Morphology

  • Leukemia, Monocytic, Acute

  • M5b Acute Differentiated Monocytic Leukemia

Macular Dystrophy, Patterned, 3
  • Martinique Crinkled Retinal Pigment Epitheliopathy

  • Patterned Macular Dystrophy 3

  • MDPT3

  • Mcrpe

Leukemia, Acute Myeloid
  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Juvenile Myelomonocytic Leukemia
  • Leukemia, Juvenile Myelomonocytic

  • JMML

  • Leukemia, Juvenile Myelomonocytic, Somatic

  • Juvenile Chronic Myelomonocytic Leukemia

  • Juvenile Chronic Myelogenous Leukemia

  • Leukemia, Myelomonocytic, Juvenile

  • Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Acute Promyelocytic Leukemia
  • Leukemia, Acute Promyelocytic

  • Acute Myeloblastic Leukemia Type 3

  • Aml M3

  • APL

  • Leukemia, Acute Promyelocytic, Somatic

  • Aml With T(15

  • 17)(Q22

  • Q12)

  • (Pml/Raralpha) And Variants

  • Apml

  • Acute Myeloblastic Leukemia 3

  • Acute Myeloid Leukemia With T(15

  • 17)(Q22

  • Q12)

  • (Pml/Raralpha) And Variants

  • Acute Myeloblastic Leukaemia Type 3

  • Acute Myeloid Leukaemia M3

  • Acute Myeloid Leukemia M3

  • Acute Promyelocytic Leukaemia

  • M3 Anll

  • Myeloid Leukemia, Acute, M3

  • Leukemia Promyelocytic Acute

  • Leukemia, Promyelocytic, Acute

  • Leukemia, Acute, Promyelocytic

Myelodysplastic Syndrome
  • Myelodysplastic Syndromes

  • Myelodysplasia

  • MDS

  • Myelodysplastic Syndrome Included

  • Myelodysplastic Syndrome, Susceptibility To, Included

  • Myelodysplastic Syndrome, Somatic

  • Myelodysplastic Syndrome, Susceptibility To

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus MLLT3 VGNC VGNC:97510
Bos taurus MLLT3 VGNC VGNC:31503
Rattus norvegicus MLLT3 RGD RGD:620940
Mus musculus MLLT3 MGD MGI:1917372
Canis familiaris MLLT3 VGNC VGNC:43262
Macaca mulatta MLLT3 VGNC VGNC:74882
Others MLLT3 NCBI