| Identity |
| HGNC (Hugo) | KIAA1618 |
| Location | 17q25 |
| Location_base_pair | Starts at 75849262 and ends at 75909857 bp from pter ( according to hg18-Mar_2006) [Mapping] |
| DNA/RNA |
| Transcription | alternate spicing; 5185 and 5332 bp cDNA |
| Protein |
| Description | 1550 and 1599 amino acids if the sequence is complete; putative zinc finger in the N term, and AraC motif in the C term |
| Implicated in |
| Entity | Anaplasic large cell lymphoma (ALCL) with t(2;17)(p23;q25) --> ALK- ALO17 |
| Disease | ALCL are high grade non Hodgkin lymphomas; ALK+ ALCL are ALCL where ALK is involved in a fusion gene; ALK+ ALCL represent 50 to 60 % of ALCL cases (they are CD30+, ALK+;); belong to the "cytoplasmic ALK+" subset. |
| Prognosis | Althouth presenting as a high grade tumour, a 80% five yr survival is associated with this anomaly |
| Hybrid/Mutated Gene | 5' ALO17 - 3' ALK |
| Abnormal Protein | NH2 ALO17 - COOH ALK |
| External links |
| Nomenclature | |
|---|---|
| HGNC (Hugo) | KIAA1618 19047 |
| Entrez_Gene (NCBI) | KIAA1618 57714 KIAA1618 |
| Cards | |
| Atlas | ALO17ID480 |
| GeneCards (Weizmann) | KIAA1618 |
| Ensembl (Hinxton) | ENSG00000180843 [Gene_View] KIAA1618 [Vega] |
| AceView (NCBI) | KIAA1618 |
| Genatlas (Paris) | KIAA1618 |
| euGene (Indiana) | 57714 |
| SOURCE (Stanford) | NM_020954 |
| Genomic and cartography | |
| GoldenPath (UCSC) | KIAA1618 - 17q25 chr17:75849262-75909857 + 17q25.3 [Description] (hg18-Mar_2006) |
| Ensembl | KIAA1618 - 17q25.3 [CytoView] |
| Mapping of homologs : NCBI | KIAA1618 [Mapview] |
| OMIM | |
| Gene and transcription | |
| Gene : Genbank (Entrez) | AB046838 AF397204 AF397205 AK023113 AL832920 |
| Reference sequence (RefSeq transcript) :SRS | NM_020954 |
| Reference transcript : Entrez | NM_020954 |
| RefSeq genomic : SRS | AC_000149 NC_000017 NT_024871 NW_001838457 |
| RefSeq genomic : Entrez | AC_000149 NC_000017 NT_024871 NW_001838457 |
| Consensus coding sequences : CCDS NCBI | KIAA1618 |
| Cluster EST : Unigene | Hs.514554 [ SRS ] Hs.514554 [ NCBI ] |
| Alternative Splicing : Fast-db (Paris) | 15480 |
| Protein : pattern, domain, 3D structure | |
| Protein : UniProt/SwissProt | Q9HCF4 (SRS) Q9HCF4 (Expasy) Q9HCF4 (Uniprot) |
| With graphics : InterPro | Q9HCF4 |
| Splice isoforms : VarSplice FASTA | Q9HCF4(VarSplice FASTA) |
| Related proteins : CluSTr | Q9HCF4 |
| Domain families : Pfam SRS | |
| Domain families : Pfam Sanger | |
| Domain families : Pfam NCBI | |
| Blocks (Seattle) | Q9HCF4 |
| Crystal structure of protein : PDB SRS | |
| Crystal structure of protein : PDBSum | |
| Crystal structure of protein : IMB | |
| Crystal structure of protein : PDB RSDB | |
| HPRD | 11156 |
| Protein Interaction databases | |
| DIP (DOE-UCLA) | Q9HCF4 |
| IntAct (EBI) | Q9HCF4 |
| Polymorphism : SNP, mutations, diseases | |
| Single Nucleotide Polymorphism (SNP) : dbSNP NCBI | KIAA1618 |
| SNP : GeneSNP Utah | KIAA1618 |
| SNP : HGBase | KIAA1618 |
| Genetic variants : HAPMAP | KIAA1618 |
| Somatic Mutations in Cancer : COSMIC | KIAA1618 |
| Translocation Breakpoints in Cancer : TICdb | KIAA1618 |
| Mutations and Diseases : HGMD | KIAA1618 |
| Hereditary diseases : OMIM | |
| Hereditary diseases : GENETests | |
| Diseases : Genetic Association | KIAA1618 |
| General knowledge | |
| Homologs : HomoloGene | KIAA1618 |
| Homology/Alignments : Family Browser UCSC | KIAA1618 |
| Phylogenetic Trees/Animal Genes : TreeFam | KIAA1618 |
| Chemical/Protein Interactions : CTD | 57714 |
| Keywords Ontology : AmiGO | |
| Keywords Ontology : EGO-EBI | |
| Pathways : BIOCARTA | |
| Pathways : KEGG | |
| Other databases | |
| Probes | |
| Probes : Imagenes | KIAA1618 Related clones (RZPD - Berlin) |
| Literature | |
| PubMed | 5 Pubmed reference(s) in Entrez |
| PubGene | KIAA1618 |
| Bibliography |
| Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor. |
| Cools J, Wlodarska I, Somers R, Mentens N, Pedeutour F, Maes B, De Wolf-Peeters C, Pauwels P, Hagemeijer A, Marynen P |
| Genes, chromosomes & cancer. 2002 ; 34 (4) : 354-362. |
| PMID 12112524 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 08-2003 | Jean-Loup Huret, Sylvie Senon |
| Citation |
| This paper should be referenced as such : |
| Huret JL, Senon S . ALO17 (ALK lymphoma oligomerization partner on chromosome 17). Atlas Genet Cytogenet Oncol Haematol. August 2003 . URL : http://AtlasGeneticsOncology.org/Genes/ALO17ID480.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Jun 27 16:39:46 CEST 2009 |
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