title: TAPASIN, DAXX, RGL2, HKE2 and four new genes (BING 1, 3 to 5) form a dense cluster at the centromeric end of the MHC.
abstract: TAPASIN, a gene recently shown to be required for antigen presentation through MHC class I molecules, is located 180 kbp centromeric of HLA-DP in a region linked to several diseases, and associated with altered developmental phenotypes in the mouse. We present the genomic analysis of a 70 kbp gene-dense segment flanking the TAPASIN locus, including sequence, structure and preliminary characterisation of seven additional genes. BING1 is a Zn finger gene containing a POZ motif. BING3 is similar to myosin regulatory light chain. BING4 shows homologies only to hypothetical yeast and Caenorhabditis elegans proteins. BING5 is found within an intron of BING4 on the complementary strand, and encodes a molecule with no homologies to database proteins. Another three genes were identified whose full sequence was not previously known; namely, RGL2, DAXX (BING2) and HKE2. RGL2 encodes an effector of Ras, homologous to the mouse RalGDS protein, Rlf. DAXX encodes an effector of Fas that stimulates apoptosis through the Jun kinase (JNK) pathway. The location of DAXX is of interest given the linkage of autoimmune disease to the MHC and to apoptosis.
authors.affiliation: Human Immunogenetics Laboratory, Imperial Cancer Research Fund, 44 Lincoln's Inn Fields, London, U.K.
authors.forename: J A
authors.initials: JA
authors.lastname: Herberg
authors.forename: S
authors.initials: S
authors.lastname: Beck
authors.forename: J
authors.initials: J
authors.lastname: Trowsdale
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000595:Amino Acid Sequence; D000818:Animals; D017951:Antigen Presentation / Q000235:genetics; D017920:Antiporters / Q000235:genetics; D001482:Base Composition; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics; D002503:Centromere / Q000235:genetics; D003001:Cloning, Molecular; D056970:Co-Repressor Proteins; D017931:DNA Primers / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D019204:GTP-Binding Proteins / Q000235:genetics; D020662:Guanine Nucleotide Exchange Factors; D015395:Histocompatibility Antigens Class I / Q000378:metabolism; D006801:Humans; D007136:Immunoglobulins / Q000235:genetics; D047908:Intracellular Signaling Peptides and Proteins; D008285:Major Histocompatibility Complex; D026901:Membrane Transport Proteins; D051379:Mice; D018832:Molecular Chaperones; D008969:Molecular Sequence Data; D005810:Multigene Family; D018994:Myosin Light Chains / Q000235:genetics; D009687:Nuclear Proteins; D012091:Repetitive Sequences, Nucleic Acid; D012190:Retroviridae / Q000235:genetics; D017386:Sequence Homology, Amino Acid; D016335:Zinc Fingers / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D017920:Antiporters; D002352:Carrier Proteins; D056970:Co-Repressor Proteins; C106985:DAXX protein, human; D017931:DNA Primers; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; C491473:Daxx protein, mouse; D020662:Guanine Nucleotide Exchange Factors; D015395:Histocompatibility Antigens Class I; D007136:Immunoglobulins; D047908:Intracellular Signaling Peptides and Proteins; C112043:MYL12BP3 protein, human; D026901:Membrane Transport Proteins; D018832:Molecular Chaperones; D018994:Myosin Light Chains; D009687:Nuclear Proteins; C490771:RGL1 protein, human; C097104:Rgl1 protein, mouse; C484736:ZBTB22 protein, human; C112042:Zbtb22 protein, mouse; C107762:tapasin; D019204:GTP-Binding Proteins