| Identity |
| Other names | FLJ21437 |
| LOC646982 | |
| TTL/TEL | |
| TTL-T | |
| TTL-B1 | |
| TTL-B2 | |
| HGNC (Hugo) | |
| Location | 13q14.11 |
| Location_base_pair | Starts at 39941672 and ends at 39945084 bp from pter ( according to hg18-Mar_2006) [Mapping] |
| 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 (Hugo) | - - |
| Entrez_Gene (NCBI) | LOC646982 646982 twelve-thirteen translocation leukemia gene |
| Cards | |
| Atlas | TTLID529ch13q14 |
| GeneCards (Weizmann) | LOC646982 |
| Ensembl (Hinxton) | ENSG00000196196 [Gene_View] LOC646982 [Vega] |
| AceView (NCBI) | LOC646982 |
| Genatlas (Paris) | LOC646982 |
| euGene (Indiana) | 646982 |
| SOURCE (Stanford) | |
| Gene Expression (Array Express) | ENSG00000196196 |
| Genomic and cartography | |
| GoldenPath (UCSC) | LOC646982 - 13q14.11 chr13:39941672-39945084 - 13q14.11 [Description] (hg18-Mar_2006) |
| Ensembl | LOC646982 - 13q14.11 [CytoView] |
| Mapping of homologs : NCBI | LOC646982 [Mapview] |
| OMIM | |
| Gene and transcription | |
| Gene : Genbank (Entrez) | AK025090 AY116214 AY116215 AY116216 |
| Reference sequence (RefSeq transcript) :SRS | |
| Reference transcript : Entrez | |
| RefSeq genomic : SRS | AC_000056 AC_000145 NC_000013 NT_024524 NW_001838073 NW_925473 |
| RefSeq genomic : Entrez | AC_000056 AC_000145 NC_000013 NT_024524 NW_001838073 NW_925473 |
| Consensus coding sequences : CCDS NCBI | LOC646982 |
| Cluster EST : Unigene | Hs.287664 [ SRS ] Hs.287664 [ NCBI ] |
| Protein : pattern, domain, 3D structure | |
| Protein : UniProt/SwissProt | Q8NEU1 (SRS) Q8NEU1 (Expasy) Q8NEU1 (Uniprot) |
| With graphics : InterPro | Q8NEU1 |
| Splice isoforms : VarSplice FASTA | Q8NEU1(VarSplice FASTA) |
| Related proteins : CluSTr | Q8NEU1 |
| Domain families : Pfam SRS | |
| Domain families : Pfam Sanger | |
| Domain families : Pfam NCBI | |
| Blocks (Seattle) | Q8NEU1 |
| Crystal structure of protein : PDB SRS | |
| Crystal structure of protein : PDBSum | |
| Crystal structure of protein : IMB | |
| Crystal structure of protein : PDB RSDB | |
| Protein Interaction databases | |
| DIP (DOE-UCLA) | Q8NEU1 |
| IntAct (EBI) | Q8NEU1 |
| Polymorphism : SNP, mutations, diseases | |
| Single Nucleotide Polymorphism (SNP) : dbSNP NCBI | LOC646982 |
| SNP : GeneSNP Utah | LOC646982 |
| SNP : HGBase | LOC646982 |
| Genetic variants : HAPMAP | LOC646982 |
| Mutations and Diseases : HGMD | - |
| Hereditary diseases : OMIM | |
| Hereditary diseases : GENETests | |
| Diseases : Genetic Association | - |
| General knowledge | |
| Homologs : HomoloGene | LOC646982 |
| Homology/Alignments : Family Browser UCSC | LOC646982 |
| Phylogenetic Trees/Animal Genes : TreeFam | - |
| Chemical/Protein Interactions : CTD | 646982 |
| Keywords Ontology : AmiGO | |
| Keywords Ontology : EGO-EBI | |
| Pathways : BIOCARTA | |
| Pathways : KEGG | |
| Other databases | |
| Probes | |
| Literature | |
| PubMed | 1 Pubmed reference(s) in Entrez |
| PubGene | LOC646982 |
| 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 |
| 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 : Sat Feb 27 10:54:40 CET 2010 |
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