Characterization of three genes, AKAP84, BAW and WSB1, located 3' to the neurofibromatosis type 1 locus in Fugu rubripes.
Sequence analysis of cosmid clones was instrumental to identify three genes in the region flanking the Fugu rubripes NF1 gene in the 3' direction: the AKAP84 gene (A-kinase anchor protein 84), the WSB1 gene (WD-40-repeat protein with a SOCS box) and the BAW gene of yet unknown function located between the AKAP84 and the WSB1 genes. The human homologues of these genes are not located in the immediate vicinity of the NF1 gene at 17q11.2. Although synteny of the NF1, AKAP84, BAW and WSB1 genes is conserved between Fugu and human, the gene order is not conserved, and more than a simple inversion would have been necessary to explain the difference in gene order. The mammalian homologue of the Fugu BAW gene or protein has not yet been characterized. As deduced from the respective cDNAs, the Fugu AKAP84, WSB1 and BAW proteins vary concerning the overall degree of similarity to their mammalian counterparts. Whereas the overall similarity of AKAP84 between Fugu and mouse is low, three regions of known functional importance show considerable conservation. These are the N-terminal anchoring domain mediating the insertion of AKAP84 in the outer mitochondrial membrane, the binding site of the regulatory subunit (RI or RII) of protein kinase A, and the C-terminal domain present in the alternatively spliced isoform AKAP121 with an hnRNP K homology domain involved in RNA binding. A higher overall similarity of deduced protein sequences between Fugu and mouse was observed comparing the BAW gene products (74.1%) and the WSB1 proteins (77.2%).
Kehrer-Sawatzki
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H
Department of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany. hildegard.kehrer-sawatzki@medizin.uni-ulm.de
Maier
C
C
Moschgath
E
E
Elgar
G
G
Krone
W
W
D054758:A Kinase Anchor Proteins; D048868:Adaptor Proteins, Signal Transducing; D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002352:Carrier Proteins / Q000737:chemistry / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D003001:Cloning, Molecular; D017124:Conserved Sequence / Q000235:genetics; D005091:Exons / Q000235:genetics; D029941:Fish Proteins; D005399:Fishes / Q000235:genetics*; D005796:Genes; D016514:Genes, Neurofibromatosis 1 / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics*; D016678:Genome; D006801:Humans; D007438:Introns / Q000235:genetics; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D020161:Physical Chromosome Mapping; D020033:Protein Isoforms / Q000737:chemistry / Q000235:genetics; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D044767:Ubiquitin-Protein Ligases
D054758:A Kinase Anchor Proteins; C105137:AKAP1 protein, human; D048868:Adaptor Proteins, Signal Transducing; C486333:Akap1 protein, mouse; C121020:BAW protein, Fugu rubripes; D002352:Carrier Proteins; D029941:Fish Proteins; D008565:Membrane Proteins; D020033:Protein Isoforms; D044767:Ubiquitin-Protein Ligases; C121021:WSB1 protein, Fugu rubripes