Atlas of Genetics and Cytogenetics in Oncology and Haematology
AF1q (ALL1 fused gene from chromosome 1q)
| Identity |
| HGNC (Hugo) | MLLT11 |
| Location | 1q21 |
| Location_base_pair | Starts at 149298775 and ends at 149307597 bp from pter ( according to hg18-Mar_2006) [Mapping] |
 | |
| 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 (Hugo) | MLLT11 16997 |
| Entrez_Gene (NCBI) | MLLT11 10962 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11 |
| Cards | |
| Atlas | AF1q12 |
| GeneCards (Weizmann) | MLLT11 |
| Ensembl (Hinxton) | ENSG00000213190 [Gene_View] MLLT11 [Vega] |
| AceView (NCBI) | MLLT11 |
| Genatlas (Paris) | MLLT11 |
| euGene (Indiana) | 10962 |
| SOURCE (Stanford) | NM_006818 |
| Genomic and cartography | |
| GoldenPath (UCSC) | MLLT11 - 1q21 chr1:149298775-149307597 + 1q21 [Description] (hg18-Mar_2006) |
| Ensembl | MLLT11 - 1q21 [CytoView] |
| Mapping of homologs : NCBI | MLLT11 [Mapview] |
| OMIM | 604684 |
| Gene and transcription | |
| Gene : Genbank (Entrez) | AK056089 AK057755 BC006471 BC007079 BC008445 |
| Reference sequence (RefSeq transcript) :SRS | NM_006818 |
| Reference transcript : Entrez | NM_006818 |
| RefSeq genomic : SRS | AC_000044 AC_000133 NC_000001 NT_004487 NW_001838529 NW_925683 |
| RefSeq genomic : Entrez | AC_000044 AC_000133 NC_000001 NT_004487 NW_001838529 NW_925683 |
| Consensus coding sequences : CCDS NCBI | MLLT11 |
| Cluster EST : Unigene | Hs.75823 [ SRS ] Hs.75823 [ NCBI ] |
| Alternative Splicing : Fast-db (Paris) | 17255 |
| Protein : pattern, domain, 3D structure | |
| Protein : UniProt/SwissProt | Q13015 (SRS) Q13015 (Expasy) Q13015 (Uniprot) |
| With graphics : InterPro | Q13015 |
| Splice isoforms : VarSplice FASTA | Q13015(VarSplice FASTA) |
| Related proteins : CluSTr | Q13015 |
| Domain families : Pfam SRS | |
| Domain families : Pfam Sanger | |
| Domain families : Pfam NCBI | |
| Blocks (Seattle) | Q13015 |
| Crystal structure of protein : PDB SRS | |
| Crystal structure of protein : PDBSum | |
| Crystal structure of protein : IMB | |
| Crystal structure of protein : PDB RSDB | |
| HPRD | 05251 |
| Protein Interaction databases | |
| DIP (DOE-UCLA) | Q13015 |
| IntAct (EBI) | Q13015 |
| Polymorphism : SNP, mutations, diseases | |
| Single Nucleotide Polymorphism (SNP) : dbSNP NCBI | MLLT11 |
| SNP : GeneSNP Utah | MLLT11 |
| SNP : HGBase | MLLT11 |
| Genetic variants : HAPMAP | MLLT11 |
| Somatic Mutations in Cancer : COSMIC | MLLT11 |
| Translocation Breakpoints in Cancer : TICdb | MLLT11 |
| Mutations and Diseases : HGMD | MLLT11 |
| Hereditary diseases : OMIM | 604684 |
| Hereditary diseases : GENETests | 604684 |
| Diseases : Genetic Association | MLLT11 |
| General knowledge | |
| Homologs : HomoloGene | MLLT11 |
| Homology/Alignments : Family Browser UCSC | MLLT11 |
| Phylogenetic Trees/Animal Genes : TreeFam | MLLT11 |
| Chemical/Protein Interactions : CTD | 10962 |
| Keywords Ontology : AmiGO | |
| Keywords Ontology : EGO-EBI | |
| Pathways : BIOCARTA | |
| Pathways : KEGG | |
| Other databases | |
| Probes | |
| Probe | Cancer Cytogenetics (Bari) |
| Probes : Imagenes | MLLT11 Related clones (RZPD - Berlin) |
| Literature | |
| PubMed | 8 Pubmed reference(s) in Entrez |
| PubGene | MLLT11 |
| 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 |
| 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 : Sat Jun 27 16:38:52 CEST 2009 |
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