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Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23

Item Type:Article
Title:Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23
Creators Name:Appel, S. and Reichwald, K. and Zimmermann, W. and Reis, A. and Rosenthal, A. and Hennies, H.C.
Abstract:Myotubularin and myotubularin-related proteins are dual-specificity phosphatases. Several myotubularin-related proteins have been identified in humans and mice. The members of the myotubularin protein family are highly conserved, from humans to yeast. Mutations in the human myotubularin gene (MTM1) lead to X-linked myotubular myopathy. Here we isolate and localize a novel putative myotubularin-related protein gene (MTMR8) on chromosome 8p22-p23, between the markers D8S550 and D8S265, by exon-trapping experiments and RT-PCR. Genomic sequencing revealed that the gene consists of 10 exons and spans approximately 43 kb. The corresponding cDNA is 7081 bp. The open reading frame predicts a protein of 549 amino acids and a calculated molecular mass of 63 kDa. Like myotubularin-related protein-5, MTMR8 has no dual-specificity phosphatase domain. It contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation.
Keywords:Amino Acid Sequence, Amino Acid Sequence Homology, Binding Sites, Carrier Proteins, Catalytic Domain, Cell Division, Complementary DNA, Exons, Molecular Sequence Data, Mutation, Open Reading Frames, Pair 8 Human Chromosomes, Protein-Tyrosine-Phosphatase, Tertiary Protein Structure, Tissue Distribution
Publisher:Academic Press
Page Range:6-8
Date:July 2001
Official Publication:https://doi.org/10.1006/geno.2001.6591
PubMed:View item in PubMed

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