AFF1 - ALF transcription elongation factor 1 Gene

Also Known as AF4; FEL; PBM1; MLLT2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4299

About AFF1

Cytogenetic location: 4q21.3-q22.1 Genomic coordinates (GRCh38): 4:86,935,011-87,141,039 (from NCBI)

This gene has 12 transcripts (splice variants), 207 orthologues, 3 paralogues and is associated with 86 phenotypes. Ubiquitous expression in thyroid (RPKM 30.6), fat (RPKM 17.7) and 25 other tissues.

Summary

This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

AFF1 Products (4)

mRNA Protein Name
NM_001166693.3 NP_001160165.1 AF4/FMR2 family member 1 isoform 1
NM_001313959.2 NP_001300888.1 AF4/FMR2 family member 1 isoform 3
NM_001313960.2 NP_001300889.1 AF4/FMR2 family member 1 isoform 4
NM_005935.4 NP_005926.1 AF4/FMR2 family member 1 isoform 2

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
21729782 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

AFF1 Protein Structure

AF-4

AF-4: AF-4 proto-oncoprotein (8 - 1208)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1210 a.a.
Protein Preferred Names Protein Names

AF4/FMR2 family member 1

  • ALL1-fused gene from chromosome 4 protein

AFF1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Cross
AFF1 P51825 tat Human immunodeficiency virus P04608
Pull Down
22190034
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality
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
Chronic Neutrophilic Leukemia

  • Cnl

  • Leukemia Neutrophilic Chronic
Central Nervous System Leukemia

  • Leukemia Of The Cns
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia

  • Juvenile Amyotrophic Lateral Sclerosis With Dementia

  • Als-Dementia Complex
Neonatal Leukemia
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
B-Lymphoblastic Leukemia/Lymphoma Mll Rearranged

  • B-Lymphoblastic Leukemia/Lymphoma Kmt2a Rearranged

  • B Lymphoblastic Leukemia/Lymphoma With T

  • Mll Rearranged

  • B-All Kmt2a Rearranged

  • B-Lymphoblastic Leukemia/Lymphoma With T

  • Kmt2a Rearranged
Monocytic Leukemia

  • Monocytic Leukaemia

  • Schilling'S Leukaemia

  • Schilling'S Leukemia

  • M5b Acute Differentiated Monocytic Leukemia
Testicular Leukemia
Locked-In Syndrome

  • Locked In Syndrome

  • Cerebromedullospinal Disconnection

  • Locked-In State

  • Quadriplegia
Adult Acute Lymphocytic Leukemia

  • Adult Acute Lymphoid Leukemia

  • Adult All
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
Intellectual Developmental Disorder, X-Linked 109

  • Fraxe Syndrome

  • Fragile Xe Syndrome

  • Mental Retardation, X-Linked, Fraxe Type

  • XLID109

  • Mrx109

  • Mental Retardation, X-Linked, Associated With Fragile Site Fraxe

  • Fraxe Mental Retardation Syndrome

  • X-Linked Intellectual Developmental Disorder 109

  • Fraxe Intellectual Disability

  • Fraxe

  • Mental Retardation, X-Linked 109

  • Fragile Site On Chromosome Xq28

  • Fragile Site, Folic Acid Type

  • X-Linked Intellectual Disability Associated With Fragile Site Fraxe

  • Fraxe Intellectual Deficit

  • Intellectual Disability Associated With Fragile Site Fraxe
Brain Ependymoma

  • Ependymal Tumor Of Brain

  • Ependymoma Of Brain
B-Lymphoblastic Leukemia/Lymphoma

  • B Lymphoblastic Leukemia/Lymphoma

  • B-All

  • Precursor B Lymphoblastic Lymphoma/Leukemia

  • C-All

  • Lymphoblastic Lymphoma, Nos

  • Common Precursor B All

  • Lymphoblastic B-Cell Lymphoma

  • Pro-B All

  • B-Precursor Lymphoma

  • Lbl - [Lymphoblastic Lymphoma]
Epithelial-Stromal Tgfbi Dystrophy
Lattice Corneal Dystrophy

  • Familial Amyloid Neuropathy, Finnish Type

  • Familial Amyloid Polyneuropathy, Type V
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
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
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00428 AFF1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris AFF1 VGNC VGNC:37686
Felis catus AFF1 VGNC VGNC:68271
Macaca mulatta AFF1 VGNC VGNC:69817
Mus musculus AFF1 MGD MGI:1100819
Bos taurus AFF1 VGNC VGNC:25710
Rattus norvegicus AFF1 RGD RGD:1307940
Others AFF1 NCBI