AF1q (ALL1 fused gene from chromosome 1q)

Identity

HGNC	MLLT11
Location	1q21
	AF1q (1q21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

DNA/RNA

Transcription

1.8 kb mRNA; coding sequence CDS 401... 673

Protein

Description	90 amino acids; 9 kDa
Expression	detected in various tissues (small intestine, colon, thymus mainly), but not in (normal) mature blood cells; expressed in all leukemic cell lines tested
Function	unknown
Homology	no known homology

Implicated in

Entity	t(1;11) (q21;q23)/ANLL --> MLL - AF1q
Disease	ANLL
Prognosis	yet unknown
Hybrid/Mutated Gene	breakpoints: between exons 6 and 7 in MLL and within the 5' untranslated region in AF1q
Abnormal Protein	N-term -- AT hook and DNA methyltransferase from MLL fused to the entire AF1q on the der(11); the reciprocal on der(1) is out of frame

External links

	Nomenclature
HGNC	MLLT11   16997
Entrez_Gene	MLLT11  10962  myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11
	Cards
Atlas	AF1q12
GeneCards	MLLT11
Ensembl	MLLT11 [Search_View]   ENSG00000213190 [Gene_View]
Genatlas	MLLT11
GeneLynx	MLLT11
eGenome	MLLT11
euGene	10962
	Genomic and cartography
GoldenPath	MLLT11  -  1q21   chr1:149298775-149307597 +  1q21   [Description]    (hg18-Mar_2006)
Ensembl	MLLT11 - 1q21 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	MLLT11
	Gene and transcription
Genbank	AK056089 [ ENTREZ ]
Genbank	AK057755 [ ENTREZ ]
Genbank	BC006471 [ ENTREZ ]
Genbank	BC007079 [ ENTREZ ]
Genbank	BC008445 [ ENTREZ ]
RefSeq	NM_006818 [ SRS ]    NM_006818 [ ENTREZ ]
RefSeq	AC_000044 [ SRS ]    AC_000044 [ ENTREZ ]
RefSeq	AC_000133 [ SRS ]    AC_000133 [ ENTREZ ]
RefSeq	NC_000001 [ SRS ]    NC_000001 [ ENTREZ ]
RefSeq	NT_004487 [ SRS ]    NT_004487 [ ENTREZ ]
RefSeq	NW_001838529 [ SRS ]    NW_001838529 [ ENTREZ ]
RefSeq	NW_925683 [ SRS ]    NW_925683 [ ENTREZ ]
AceView	MLLT11 AceView - NCBI
Unigene	Hs.75823 [ SRS ]    Hs.75823 [ NCBI ]     HS75823 [ spliceNest ]
Fast-db	17255 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q13015 [ SRS]    Q13015 [ EXPASY ]     Q13015 [ INTERPRO ]     Q13015 [ UNIPROT ]
CluSTr	Q13015
Blocks	Q13015
HPRD	05251
	Protein Interaction databases
DIP	Q13015
IntAct	Q13015
	Polymorphism : SNP, mutations, diseases
OMIM	604684    [ map ]
GENECLINICS	604684
SNP	MLLT11 [dbSNP-NCBI]
SNP	NM_006818 [SNP-NCI]
SNP	MLLT11 [GeneSNPs - Utah]  MLLT11] [HGBASE - SRS]
HAPMAP	MLLT11 [HAPMAP]
COSMIC	MLLT11 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	MLLT11 [Translocation breakpoints In Cancer]
HGMD	MLLT11
	General knowledge
Family Browser	MLLT11 [UCSC Family Browser]
SOURCE	NM_006818
SMD	Hs.75823
SAGE	Hs.75823
GO	molecular_function [Amigo]  molecular_function
GO	cellular_component [Amigo]  cellular_component
PubGene	MLLT11
TreeFam	MLLT11
CTD	10962 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	Cancer Cytogenetics (Bari)
Probe	MLLT11 Related clones (RZPD - Berlin)
	PubMed
PubMed	6 Pubmed reference(s) in LocusLink

Bibliography

A novel gene, AF1q, fused to MLL in t(1;11) (q21;q23), is specifically expressed in leukemic and immature hematopoietic cells.

Tse W, Zhu W, Chen HS, Cohen A

Blood. 1995 ; 85 (3) : 650-656.

PMID 7833468

Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations.

Bernard OA, Berger R

Genes, chromosomes & cancer. 1995 ; 13 (2) : 75-85.

PMID 7542910

11q23 rearrangements in acute leukemia.

Rubnitz JE, Behm FG, Downing JR

Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1996 ; 10 (1) : 74-82.

PMID 8558942

Chromosome abnormalities in leukaemia: the 11q23 paradigm.

Young BD, Saha V

Cancer surveys. 1996 ; 28 : 225-245.

PMID 8977038

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

Search in all EBI   NCBI

Contributor(s)

Written	04-1998	Olivier Bernard
		Unite Inserm U434, CNRS, Institut de Genetique Moleculaire, Paris, France

Citation

This paper should be referenced as such :

Bernard O . AF1q (ALL1 fused gene from chromosome 1q). Atlas Genet Cytogenet Oncol Haematol. April 1998 . URL : http://AtlasGeneticsOncology.org/Genes/AF1q12.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 21:11:48 2008