AFF1 - ALF transcription elongation factor 1 Gene

Homo sapiens

Also known as AF4; FEL; PBM1; MLLT2

Gene ID: 4299 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21729782	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00428	AFF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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