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http://purl.uniprot.org/citations/11549311http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11549311http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11549311http://www.w3.org/2000/01/rdf-schema#comment"We have identified and characterized a gene (60% on protein level) and a pseudogene (93% on DNA level) that show high similarity to the Wolf-Hirschhorn syndrome candidate gene-1 (WHSC1). These genes, WHSC1L1 and WHSC1L2P, map to human chromosomes 8p11.2 and 17q21, respectively. WHSC1L1 is ubiquitously expressed and, like WHSC1, generates two major transcripts, a short (s-type) and a long (l-type). The WHSC1L1 l-type transcript encodes a 1437-amino-acid protein containing 2 PWWP (proline-trypto-phan-proline-tryptophan) domains, 5 PHD (plant-home-domain)-type zinc finger motifs, a SAC (SET-associated Cys-rich) domain, and a SET (Suppressor of Variegation, Enhancer of Zeste and Trithorax) domain. The s-type transcript encodes a protein of 645 amino acids containing a PWWP domain only. WHSC1L2P is an unexpressed, intronless pseudogene of a WHSC1L1 s-type transcript. The 8p11.2 region around WHSC1L1 contains a set of genes including TACC1, FGFR1, LETM2, and WHSC1L1, which seems to be derived from a recent duplication involving 4p16.3 where a similar set of genes is located. Rearrangements of 8p are frequently found in human cancer, including breast cancer. These characteristics indicate that WHSC1L1 might have a role in embryonic development and, when disregulated, in cancer development."xsd:string
http://purl.uniprot.org/citations/11549311http://purl.org/dc/terms/identifier"doi:10.1006/geno.2001.6581"xsd:string
http://purl.uniprot.org/citations/11549311http://purl.org/dc/terms/identifier"doi:10.1006/geno.2001.6581"xsd:string
http://purl.uniprot.org/citations/11549311http://purl.uniprot.org/core/author"den Dunnen J.T."xsd:string
http://purl.uniprot.org/citations/11549311http://purl.uniprot.org/core/author"den Dunnen J.T."xsd:string
http://purl.uniprot.org/citations/11549311http://purl.uniprot.org/core/author"van Ommen G.-J.B."xsd:string
http://purl.uniprot.org/citations/11549311http://purl.uniprot.org/core/author"van Ommen G.-J.B."xsd:string
http://purl.uniprot.org/citations/11549311http://purl.uniprot.org/core/author"Stec I."xsd:string
http://purl.uniprot.org/citations/11549311http://purl.uniprot.org/core/author"Stec I."xsd:string
http://purl.uniprot.org/citations/11549311http://purl.uniprot.org/core/date"2001"xsd:gYear
http://purl.uniprot.org/citations/11549311http://purl.uniprot.org/core/date"2001"xsd:gYear
http://purl.uniprot.org/citations/11549311http://purl.uniprot.org/core/name"Genomics"xsd:string
http://purl.uniprot.org/citations/11549311http://purl.uniprot.org/core/name"Genomics"xsd:string
http://purl.uniprot.org/citations/11549311http://purl.uniprot.org/core/pages"5-8"xsd:string
http://purl.uniprot.org/citations/11549311http://purl.uniprot.org/core/pages"5-8"xsd:string
http://purl.uniprot.org/citations/11549311http://purl.uniprot.org/core/title"WHSC1L1, on human chromosome 8p11.2, closely resembles WHSC1 and maps to a duplicated region shared with 4p16.3."xsd:string
http://purl.uniprot.org/citations/11549311http://purl.uniprot.org/core/title"WHSC1L1, on human chromosome 8p11.2, closely resembles WHSC1 and maps to a duplicated region shared with 4p16.3."xsd:string
http://purl.uniprot.org/citations/11549311http://purl.uniprot.org/core/volume"76"xsd:string
http://purl.uniprot.org/citations/11549311http://purl.uniprot.org/core/volume"76"xsd:string
http://purl.uniprot.org/citations/11549311http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/11549311
http://purl.uniprot.org/citations/11549311http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/11549311
http://purl.uniprot.org/citations/11549311http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/11549311
http://purl.uniprot.org/citations/11549311http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/11549311