TTL (Twelve-thirteen Translocation Leukemia)

Identity

Other names	FLJ21437
	LOC646982
	TTL/TEL
	TTL-T
	TTL-B1
	TTL-B2
HGNC
Location	13q14.11
Location_base_pair	Starts at 39941672 and ends at 39945084 bp from pter ( according to hg18-Mar_2006).

Note	Not to be confused with: TTL : tubulin tyrosine ligase (2q13), nor with "transthyretin-like (TTL) gene family", a family to which belongs TTR (transthyretin, 18q12).

DNA/RNA

Description	Start at 39,822,377 bp from pter; the gene spans 119,929 bases on minus strand.
Transcription	Three splicing forms, namely: TTL-T, TTL-B1 and -B2. TTL-T is 2090 bp long and composed of exons 1-8. The longest open-reading frame contains exons 4, 5, and part of exon 6; it encods a 133 amino acids peptid. TTL-B1 transcript is 3450 bp long and is composed of exons 4, 5, and part of exon 9. TTL-B2, 3588 bp long is composed of exons 4, 5, and part of exon 8a.

Protein

Note	This gene/protein remains poorly known: there has been no study on it since the princeps paper by Qiao et al (2003).
Expression	Ubiquitous expression (lung, liver, spleen, thymus, and bone marrow); major expression in brain and testis.
Homology	TTL has no homology to known genes.

Implicated in

Entity	t(12;13)(p13;q14) in B-cell acute lymphoblastic leukaemia (B-ALL) --> ETV6 /TTL.
Note	Only one case to date.
Hybrid/Mutated Gene	Both reciprocal transcripts, TTL/ETV6 and ETV6/TTL, were detected. ETV6/TTL fusion transcript The other transcript, TTL/ETV6, comprises 5' TTL exons 1 to 5 or to 8a, fused to ETV6 from exon 2. The predicted 530 amino acids fusion protein consists mostly of ETV6 with both HLH and ETS domains, and could have modified transcriptional activities. On the other hand, a loss of function of ETV6 and/or of TTL.could play the critical role in leukemogenesis.

External links

	Nomenclature
HGNC	-   -
Entrez_Gene	LOC646982  646982  TTL/TEL fusion protein TTL-T
	Cards
Atlas	TTLID529ch13q14
GeneCards	LOC646982
Ensembl	[Gene_View]  LOC646982 [Vega]
Genatlas	LOC646982
	Genomic and cartography
GoldenPath	LOC646982  -  13q14.11   chr13:39941672-39945084 -  13q14.11   [Description]    (hg18-Mar_2006)
Ensembl	LOC646982 - 13q14.11 [CytoView]
NCBI	Mapview
HomoloGene	LOC646982
	Gene and transcription
Genbank	AK025090 [ ENTREZ ]
Genbank	AY116214 [ ENTREZ ]
Genbank	AY116215 [ ENTREZ ]
Genbank	AY116216 [ ENTREZ ]
RefSeq	AC_000056 [ SRS ]    AC_000056 [ ENTREZ ]
RefSeq	NC_000013 [ SRS ]    NC_000013 [ ENTREZ ]
RefSeq	NT_024524 [ SRS ]    NT_024524 [ ENTREZ ]
RefSeq	NW_925473 [ SRS ]    NW_925473 [ ENTREZ ]
CCDS	LOC646982 CCDS - NCBI
AceView	LOC646982 AceView - NCBI
Unigene	Hs.287664 [ SRS ]    Hs.287664 [ NCBI ]
	Protein : pattern, domain, 3D structure
SwissProt	Q8NEU1 [ SRS]    Q8NEU1 [ EXPASY ]     Q8NEU1 [ INTERPRO ]     Q8NEU1 [ UNIPROT ] Q8NEU1 [ VarSplice FASTA ]
CluSTr	Q8NEU1
Blocks	Q8NEU1
	Protein Interaction databases
DIP	Q8NEU1
IntAct	Q8NEU1
	Polymorphism : SNP, mutations, diseases
SNP	LOC646982 [dbSNP-NCBI]
SNP	LOC646982 [GeneSNPs - Utah]  LOC646982] [HGBASE - SRS]
HAPMAP	LOC646982 [HAPMAP]
HGMD	-
Genetic Association	-
CDC HuGE	-
	General knowledge
Family Browser	LOC646982 [UCSC Family Browser]
SMD	Hs.287664
SAGE	Hs.287664
PubGene	LOC646982
TreeFam	-
CTD	646982 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
	PubMed

Bibliography

Identification of a novel fusion gene, TTL, fused to ETV6 in acute lymphoblastic leukemia with t(12;13)(p13;q14), and its implication in leukemogenesis.

Qiao Y, Ogawa S, Hangaishi A, Yuji K, Izutsu K, Kunisato A, Imai Y, Wang L, Hosoya N, Nannya Y, Sato Y, Maki K, Mitani K, Hirai H.

Leukemia. 2003 Jun; 17(6): 1112-20.

PMID 12764377

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

Search in all EBI   NCBI

Contributor(s)

Written	11-2007	Jean-Loup Huret
		Jean Loup HURET, Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Citation

This paper should be referenced as such :

Huret JL . TTL (Twelve-thirteen Translocation Leukemia). Atlas Genet Cytogenet Oncol Haematol. November 2007 . URL : http://AtlasGeneticsOncology.org/Genes/TTLID529ch13q14.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Thu Nov 27 13:31:04 2008