AFF4 - ALF transcription elongation factor 4 Gene

Also Known as MCEF; CHOPS; AF5Q31

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 27125

About AFF4

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:132,875,395-132,963,634 (from NCBI)

This gene has 9 transcripts (splice variants), 212 orthologues, 3 paralogues and is associated with 77 phenotypes. Ubiquitous expression in thyroid (RPKM 21.2), adrenal (RPKM 17.6) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]

AFF4 Products (1)

mRNA Protein Name
NM_014423.4 NP_055238.1 AF4/FMR2 family member 4
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
20153263 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

AFF4 Protein Structure

AF-4

AF-4: AF-4 proto-oncoprotein (2 - 1160)

  • 0
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  • 1163 a.a.
Protein Preferred Names Protein Names

AF4/FMR2 family member 4

  • ALL1-fused gene from chromosome 5q31 protein

AFF4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
AFF4 Q9UHB7 MLLT1 Homo sapiens Q03111 21729782
Intra
AFF4 Q9UHB7 MLLT1 Homo sapiens Q03111 20153263
Intra
AFF4 Q9UHB7 MLLT1 Homo sapiens Q03111 20153263
Intra
AFF4 Q9UHB7 MLLT1 Homo sapiens Q03111 20153263
Intra
AFF4 Q9UHB7 CCNT1 Homo sapiens O60563 33961781
Intra
AFF4 Q9UHB7 CCNT1 Homo sapiens O60563 20153263
Intra
AFF4 Q9UHB7 CCNT1 Homo sapiens O60563 20153263
Intra
AFF4 Q9UHB7 CCNT1 Homo sapiens O60563 21729782
Intra
AFF4 Q9UHB7 CCNT1 Homo sapiens O60563 28514442
Intra
AFF4 Q9UHB7 CCNT1 Homo sapiens O60563 20153263
Intra
AFF4 Q9UHB7 TRAF2 Homo sapiens Q12933 25416956
Intra
AFF4 Q9UHB7 AP2B1 Homo sapiens P63010 25416956
Intra
AFF4 Q9UHB7 GOLGA2 Homo sapiens Q08379 25416956
Intra
AFF4 Q9UHB7 GOLGA2 Homo sapiens Q08379 25416956
Intra
AFF4 Q9UHB7 GOLGA2 Homo sapiens Q08379 25416956
Intra
AFF4 Q9UHB7 MLLT3 Homo sapiens P42568 20153263
Intra
AFF4 Q9UHB7 MLLT3 Homo sapiens P42568 21729782
Intra
AFF4 Q9UHB7 MTUS2 Homo sapiens Q5JR59 25416956
Intra
AFF4 Q9UHB7 MTUS2 Homo sapiens Q5JR59 25416956
Intra
AFF4 Q9UHB7 SIAH1 Homo sapiens Q8IUQ4 25416956
Intra
AFF4 Q9UHB7 SIAH1 Homo sapiens Q8IUQ4 25416956
Intra
AFF4 Q9UHB7 SIAH1 Homo sapiens Q8IUQ4 25416956
Cross
AFF4 Q9UHB7 tat Human immunodeficiency virus P04608 22190034
Cross: Cross-species interaction Intra: Intraspecies interaction

AFF4 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810250 AFF4 Antibody (YA9594) WB, ICC/IF, IF-Tissue, IP, ELISA human

Related Diseases

Diseases Alias
Chops Syndrome
  • CHOPS

  • Cognitive Impairment, Coarse Facies, Heart Defects, Obesity, Pulmonary Involvement, Short Stature, And Skeletal Dysplasia

  • Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome

  • Cognitive Impairment - Coarse Facies - Heart Defects - Obesity - Pulmonary Involvement - Short Stature - Skeletal Dysplasia Syndrome

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

Cataract 11, Multiple Types
  • Cataract, Posterior Polar, 4

  • Ctpp4

  • Cpp4

  • Cataract 11 Multiple Types

  • CTRCT11

  • Cataract 11, Syndromic, Autosomal Recessive

  • Cataract 11 With Microphthalmia And Neurodevelopmental Abnormalities

  • Posterior Polar Cataract 4

  • Posterior Polar Cataract, 4

  • Cataract Posterior Polar 4

  • Syndromic Cataract 11

  • Cataract, Type 11, Multiple Types

Kbg Syndrome
  • KBGS

  • Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies

  • Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies

  • Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies

  • Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome

  • Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

Cornelia De Lange Syndrome
  • De Lange Syndrome

  • Brachmann De Lange Syndrome

  • Brachmann-De Lange Syndrome

  • Cdls

  • Bdls

  • Typus Degenerativus Amstelodamensis

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
Macaca mulatta AFF4 VGNC VGNC:69629
Rattus norvegicus AFF4 RGD RGD:1311694
Mus musculus AFF4 MGD MGI:2136171
Bos taurus AFF4 VGNC VGNC:25712
Canis familiaris AFF4 VGNC VGNC:37688
Felis catus AFF4 VGNC VGNC:59669
Others AFF4 NCBI