title: TSRC1, a widely expressed gene containing seven thrombospondin type I repeats.
abstract: The thrombospondin type 1 repeat domain is found in nearly 100 mammalian proteins with diverse biological functions that include cellular adhesion, angiogenesis, and patterning of the developing nervous system. We have characterized a novel thrombospondin type 1 repeat containing gene, TSRC1, encoding a predicted protein with seven thrombospondin repeats, six of which are clustered at the C-terminus. The 17 coding exons and two nontranslated exons of TSRC1 span 10 kb of genomic DNA. The human and mouse genes encode proteins of 1074 and 1036 amino acids, respectively, with 76% amino acid sequence identity. Thirty of the extra amino acids in the human protein are encoded by exon 6. Mouse Tsrc1 is expressed in all fetal and adult tissues tested. Three conserved noncoding sequence elements with potential regulatory function are located in intron 1. Mouse Tsrc1 was genetically mapped to chromosome 3 within the nonrecombinant region for the sodium channel modifier locus Scnm1. The sensitive and resistant alleles of Scnm1 did not differ in Tsrc1 protein sequence, transcript length, or transcript abundance. Human TSRC1 is located on chromosome 1q21 within an 11.7 Mb segment of conserved synteny. TSRC1 and the closely linked gene ADAM15 appear to be derived by a chromosomal inversion that interrupted an ancestral ADAMTS gene.
authors.affiliation: Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, MI 48109-0618, USA.
authors.forename: David A
authors.initials: DA
authors.lastname: Buchner
authors.forename: Miriam H
authors.initials: MH
authors.lastname: Meisler
mesh_terms: D000071096:ADAMTS Proteins; D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005091:Exons; D005260:Female; D020869:Gene Expression Profiling; D005796:Genes / Q000235:genetics; D006801:Humans; D007438:Introns; D008297:Male; D051379:Mice; D008809:Mice, Inbred C3H; D008810:Mice, Inbred C57BL; D008969:Molecular Sequence Data; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D019700:Thrombospondin 1 / Q000235:genetics*; D019699:Thrombospondins / Q000235:genetics*
chemical_list: C486779:ADAMTSL4 protein, human; D018076:DNA, Complementary; D019700:Thrombospondin 1; D019699:Thrombospondins; C474931:Tsrc1 protein, mouse; D000071096:ADAMTS Proteins