AF5q31 (ALL1 fused gene from chromosome 5q31)

Identity

Hugo	AFF4
Location	5q31
	AF5q31 (5q31) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

DNA/RNA

Description	at least 16 exons
Transcription	in a telomere to centromere direction; 4235 bp mRNA; open reading frame: 3491 bp

Protein

Description	1163 amino acids; 127 kDa
Expression	mostly in fetal tissues (heart, lung, brain, liver); at a low level in adult tissues; therefore, AF5q31 may play a critical role in the fetal development
Homology	with AF4-related proteins: AF4, the gene involved int(4;11)(q21;q23), LAF4, FMR2

Implicated in

Entity	ins(5;11)(q31;q13q23)acute lymphoblastic leukemia (ALL) --> MLL-AF5q31
Note	poorly defined: only 2 cases to date, infants with CD19+ ALL; complete remission, relapse and death
Hybrid/Mutated Gene	AF5Q31 and MLL are transcribed in opposite directions, and inverted insertion is required

External links

	Nomenclature
Hugo	AFF4
GDB	AFF4
Entrez_Gene	AFF4  27125  AF4/FMR2 family, member 4
	Cards
Atlas	AF5q31ID230
GeneCards	AFF4
Ensembl	AFF4 [Search_View]   ENSG00000072364 [Gene_View]
Genatlas	AFF4
GeneLynx	AFF4
eGenome	AFF4
euGene	27125
	Genomic and cartography
GoldenPath	AFF4  -  5q31   chr5:132238971-132327253 -  5q31   [Description]    (hg18-Mar_2006)
Ensembl	AFF4 - 5q31 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	AFF4
	Gene and transcription
Genbank	AA706988 [ ENTREZ ]
Genbank	AB209547 [ ENTREZ ]
Genbank	AF161355 [ ENTREZ ]
Genbank	AF173886 [ ENTREZ ]
Genbank	AF197927 [ ENTREZ ]
RefSeq	NM_014423 [ SRS ]    NM_014423 [ ENTREZ ]
RefSeq	AC_000048 [ SRS ]    AC_000048 [ ENTREZ ]
RefSeq	NC_000005 [ SRS ]    NC_000005 [ ENTREZ ]
RefSeq	NT_034772 [ SRS ]    NT_034772 [ ENTREZ ]
RefSeq	NW_922784 [ SRS ]    NW_922784 [ ENTREZ ]
AceView	AFF4 AceView - NCBI
Unigene	Hs.664840 [ SRS ]    Hs.664840 [ NCBI ]     HS664840 [ spliceNest ]
Fast-db	9665 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q9UHB7 [ SRS]    Q9UHB7 [ EXPASY ]     Q9UHB7 [ INTERPRO ]
Interpro	IPR007797 AF-4 [ SRS ]    IPR007797 AF-4 [ EBI ]
Interpro	IPR015479 Transcrpt_fact_AF4 [ SRS ]    IPR015479 Transcrpt_fact_AF4 [ EBI ]
CluSTr	Q9UHB7
Pfam	PF05110 AF-4 [ SRS ]    PF05110 AF-4 [ Sanger ]    pfam05110 [ NCBI-CDD ]
Blocks	Q9UHB7
HPRD	09187
	Protein Interaction databases
DIP	Q9UHB7
IntAct	Q9UHB7
	Polymorphism : SNP, mutations, diseases
OMIM	604417    [ map ]
GENECLINICS	604417
SNP	AFF4 [dbSNP-NCBI]
SNP	NM_014423 [SNP-NCI]
SNP	AFF4 [GeneSNPs - Utah]  AFF4] [HGBASE - SRS]
HAPMAP	AFF4 [HAPMAP]
COSMIC	AFF4 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	AFF4 [Translocation breakpoints In Cancer]
HGMD	AFF4
	General knowledge
Family Browser	AFF4 [UCSC Family Browser]
SOURCE	NM_014423
SMD	Hs.664840
SAGE	Hs.664840
GO	transcription factor activity [Amigo]  transcription factor activity
GO	nucleus [Amigo]  nucleus
GO	transcription [Amigo]  transcription
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	transcription from RNA polymerase II promoter [Amigo]  transcription from RNA polymerase II promoter
PubGene	AFF4
TreeFam	AFF4
CTD	27125 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	Cancer Cytogenetics (Bari)
Probe	AFF4 Related clones (RZPD - Berlin)
	PubMed
PubMed	10 Pubmed reference(s) in LocusLink

Bibliography

AF5q31, a newly identified AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia with ins(5;11)(q31;q13q23).

Taki T, Kano H, Taniwaki M, Sako M, Yanagisawa M, Hayashi Y

Proceedings of the National Academy of Sciences of the United States of America. 1999 ; 96 (25) : 14535-14540.

PMID 10588740

Insertion of MLL sequences into chromosome band 5q31 results in an MLL-AF5Q31 fusion and is a rare but recurrent abnormality associated with infant leukemia.

Deveney R, Chervinsky DS, Jani-Sait SN, Grossi M, Aplan PD

Genes, chromosomes & cancer. 2003 ; 37 (3) : 326-331.

PMID 12759932

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	04-2000	Jean-Loup Huret

Citation

This paper should be referenced as such :

Huret JL . AF5q31 (ALL1 fused gene from chromosome 5q31). Atlas Genet Cytogenet Oncol Haematol. April 2000 . URL : http://AtlasGeneticsOncology.org/Genes/AF5q31ID230.html

Huret JL . AF5q31 (ALL1 fused gene from chromosome 5q31). Atlas Genet Cytogenet Oncol Haematol. . URL : http://AtlasGeneticsOncology.org/Genes/AF5q31ID230.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Wed Jul 2 08:21:36 2008