AFF1 Gene
protein-coding GIFtS: 51
GC04P088075
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AF4/FMR2 family, member 1 (Previous names: myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2, pre-B-cell monocytic leukemia partner 1 ) Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbols: PBM1, MLLT2)
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Aliases & Descriptions for AFF1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
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| Aliases |
|---|
| AF-4 1, 2 | | AF4 1, 2, 3 | | AF4-MLL 2 | | FEL 3 | | MGC134969 2 | | MLL/AF4 2 | | MLLT2 2, 3 | | PBM1 2, 3 |
| | | Descriptions |
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| AF4-MLL fusion protein 2 | | AF4/FMR2 family, member 1 2 | | Protein AF-4 3 | | Protein FEL 3 | | Proto-oncogene AF4 3 | myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2, pre-B-cell monocytic leukemia partner 1 1 | myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 2 2 | myeloid/lymphoid or mixed-lineage leukemia trithorax homolog 2 2 | | pre-B-cell monocytic leukemia partner 1 2 |
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| | Search outside databases for aliases for AFF1 genePrevious GC identifer: GC04P088214 |
Summaries for AFF1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Gene Wiki entry for AFF1 |
Genomic Location for AFF1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the AFF1 gene 
Entrez Gene cytogenetic band: 4q21 Ensembl cytogenetic band: 4q21.3 HGNC cytogenetic band: 4q21.3AFF1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04P088075:
(about GC identifiers)
Start:
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88,147,177 bp from pter |
End:
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88,281,215 bp from pter |
Size:
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134,039 bases |
Orientation:
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plus strand |
RefSeq DNA sequence:- NC_000004.10 NT_016354.18
| Proteins for AFF1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: AFF1_HUMAN, P51825 (See
protein sequence)Recommended Name: AF4/FMR2 family member 1 Size: 1210 amino acids; 131422 Da
Subcellular location: Nucleus (Potential)
Sequence caution: Sequence=AAA36642.1; Type=Frameshift; Positions=897, 905, 1178;Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_005926.1
ENSEMBL proteins: ENSP00000378574 ENSP00000321097 ENSP00000378578 ENSP00000305689
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
1 Gene Ontology (GO) cellular component term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- | About this table
Antibodies for AFF1: Assays for AFF1: | Protein
Domains/ Families for AFF1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P51825
ProtoNet protein and cluster: P51825 1 Blocks protein family: IPB007797 AF-4 proto-oncoprotein
UniProtKB/Swiss-Prot: AFF1_HUMAN, P51825Similarity: Belongs to the AF4 family | Gene Function for AFF1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005935
Applied Biosystems Silencer® siRNAs for AFF1
Sigma-Aldrich siRNA for AFF1  Sigma-Aldrich shRNA for AFF1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005935                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_005935                                  untagged cDNA clones in CMV expression vector (see all 2): NM_005935 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_005935
9 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Aff1):
2 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003700 | transcription factor activity |
TAS | 7689231 | | GO:0016563 | transcription activator activity |
IEA | -- | About this table | Pathways & Interactions for AFF1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
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5/20 Interacting proteins for AFF1 (P518252 ENSP000003056893) via UniProtKB, MINT, and/or STRING (see all 20
)About this table
1 Gene Ontology (GO) biological process term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0045893 | positive regulation of transcription, DNA-dependent |
IEA | -- | About this table
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Drugs & Compounds for AFF1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
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Browse Tocris compounds for AFF1 1 Novoseek chemical compound relationship for AFF1 gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| af 10 |
76.18 |
2 |
15856011 (1), 16511515 (1) |
About this table
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Transcripts for AFF1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005935
Sigma-Aldrich siRNA for AFF1  Sigma-Aldrich shRNA for AFF1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_005935 REFSEQ mRNAs for AFF1 gene: NM_005935.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_005935               OriGene GFP tagged cDNA clone in CMV expression vector: NM_005935                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_005935                                  untagged cDNA clones in CMV expression vector (see all 2): NM_005935  Additional cDNA sequence: AF024541.1 AF177236.1 AF177237.1 AF177238.1 AF177239.1 AF492831.1 AK296149.1 AK296243.1 AK300364.1 AK302199.1 BC017432.1 BC114930.1 DQ451148.1 L13743.1 L13773.1 L25050.1 21 DOTS entries: DT.320060 DT.121271684 DT.95106539 DT.40217563 DT.121271853 DT.121271770 DT.207714 DT.91650693 DT.95156841 DT.101985638 DT.121271831 DT.75176196 DT.75188384 DT.95295713 DT.100734271 DT.121271747 DT.91874814 DT.95106675 DT.95110406 DT.121271880 DT.95106485 24/280 AceView cDNA sequences (see all 280
):AA256867 AI638134 BU428544 BU630914 AA582365 CA416095 AI189392 BF431765 AI075843 AI017397 BU173183 AI245167 AI401650 AW339615 AA962321 AA152192 BF196062 AA661744 CK903363 AI401199 AW303894 BU782668 T59667 AA701548
highest scoring ESTs for AFF1:L13773 AA150141 AA152192 AA234146 AA234965 AA305835 AA312155 AA368567 AA483790 AA582365 Unigene Cluster for AFF1: AF4/FMR2 family, member 1 Hs.480190 [show with all ESTs]Unigene Representative Sequence: L13773
GeneLoc Exon Structure
4 Ensembl transcripts including schematic representations: ENST00000395142
ENST00000317423
ENST00000395146
ENST00000307808
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Expression for AFF1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| AFF1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for AFF1
1 / 2 / 3 11 probe-sets matching AFF1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.480190
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Orthologs for AFF1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
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Orthologs for AFF1 gene from 5/7 species (see all 7
)
About this table Species with no ortholog for AFF1
ENSEMBL Gene Tree for AFF1 | Paralogs for AFF1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for AFF1 gene
- AFF32 AFF22 AFF42
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SNPs/Variants for AFF1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
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HapMap Linkage Disequilibrium images for AFF1 (up to first 250kb)
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Disorders & Mutations for AFF1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 159557
UniProtKB/Swiss-Prot: AFF1_HUMAN, P51825
A chromosomal aberration involving AFF1 is associated with acute leukemias. Translocation t(4;11)(q21;q23) with MLL/HRX. The result is a rogue activator protein6 Novoseek disease relationships for AFF1 gene
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| lymphoblastic leukemia acute |
77.92 |
10 |
11719380 (1), 11493704 (1), 12433702 (1), 15221006 (1) (see all 9) |
| acute leukemia |
75.25 |
6 |
8353274 (1), 7698025 (1), 11527155 (1), 8378328 (1) (see all 6) |
| leukemogenesis |
70.29 |
6 |
9737688 (2), 9808577 (1), 9365243 (1) |
| leukemia |
69.17 |
20 |
9808577 (2), 9737688 (2), 9403001 (2), 17889710 (1) (see all 14) |
| chromosomal aberrations |
41.32 |
1 |
8506309 (1) |
| tumors |
4.40 |
2 |
8378328 (1) |
About this table
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Medical News for AFF1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for AFF1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/75 PubMed articles for AFF1 gene (see all 75
):- The t(4;11) chromosome translocation of human acute leukemias fuses the ALL-1 gene, related to Drosophila trithorax, to the AF-4 gene. (PubMed id 1423625)1, 2, 3, 4 Gu Y....Canaani E. (1992)
- The chromosome 4q21 gene (AF-4/FEL) is widely expressed in normal tissues and shows breakpoint diversity in t(4;11)(q21;q23) acute leukemia. (PubMed id 8353274)1, 2, 3 Chen C.S....Kersey J.H. (1993)
- Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs. (PubMed id 8506309)1, 3, 4 Nakamura T.... Canaani E. (1993)
- Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935)3, 4 Beausoleil S.A....Gygi S.P. (2004)
- Acute mixed-lineage leukemia t(4;11)(q21;q23) generates an MLL-AF4 fusion product. (PubMed id 7689231)2, 3 Domer P.H....Korsmeyer S.J. (1993)
- A serine/proline-rich protein is fused to HRX in t(4;11) acute leukemias. (PubMed id 8443374)3, 4 Morrissey J....Cleary M.L. (1993)
- Duplicated regions of AF-4 intron 4 at t(4;11) translocation breakpoints. (PubMed id 10671636)1, 3 Felix C.A....Rappaport E.F. (1999)
- Exon/intron structure of the human AF-4 gene, a member of the AF- 4/LAF-4/FMR-2 gene family coding for a nuclear protein with structural alterations in acute leukaemia. (PubMed id 9233580)1, 3 Nilson I.... Marschalek R. (1997)
- Simultaneous localization of MLL, AF4 and ENL genes in interphase nuclei by 3D-FISH: MLL translocation revisited. (PubMed id 16433901)1, 3 Gue M....Boudier T. (2006)
- Interaction of AF4 wild-type and AF4.MLL fusion protein with SIAH proteins: indication for t(4;11) pathobiology? (PubMed id 15221006)1, 3 Bursen A....Marschalek R. (2004)
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Search for AFF1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing AFF1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing AFF1
(According to HUGE)
About This Section
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Specialized Databases showing AFF1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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| About This Section
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| Services for AFF1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
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 Products for AFF1:

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Incremental update: 13 Oct 2009
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