Complete human gene structure of obscurin: implications for isoform generation by differential splicing

TY - JOUR

T1 - Complete human gene structure of obscurin

T2 - implications for isoform generation by differential splicing

AU - Fukuzawa, Atsushi

AU - Idowu, Seraphina

AU - Gautel, Mathias

PY - 2005/12

Y1 - 2005/12

N2 - The complete gene giant muscle protein obscurin, a modular protein composed largely of tandem Ig-domains, GDP/GTP exchange factor domains (GEF) for small G-proteins, and differentially spliced kinase domains, was analysed. The splice donor and acceptor sites of the 117 exons give important clues for potential splice pathways. The fusion of the conventional obscurin A, containing only the GEF domain, and obscurin B, fusing into the 3' kinase exons, was experimentally confirmed and analysed. The linker between the two kinases contains multiple predicted phosphorylation sites, as well as a predicted NFX zinc finger domain. Both kinases show only weak homology to either myosin light chain kinases or other giant muscle protein kinases, suggesting that they are functionally distinct.

AB - The complete gene giant muscle protein obscurin, a modular protein composed largely of tandem Ig-domains, GDP/GTP exchange factor domains (GEF) for small G-proteins, and differentially spliced kinase domains, was analysed. The splice donor and acceptor sites of the 117 exons give important clues for potential splice pathways. The fusion of the conventional obscurin A, containing only the GEF domain, and obscurin B, fusing into the 3' kinase exons, was experimentally confirmed and analysed. The linker between the two kinases contains multiple predicted phosphorylation sites, as well as a predicted NFX zinc finger domain. Both kinases show only weak homology to either myosin light chain kinases or other giant muscle protein kinases, suggesting that they are functionally distinct.

KW - Alternative Splicing

KW - Amino Acid Sequence

KW - Binding Sites

KW - Connectin

KW - Exons

KW - Gene Expression Profiling

KW - Guanine Nucleotide Exchange Factors

KW - Humans

KW - Molecular Sequence Data

KW - Muscle Proteins

KW - Myosin-Light-Chain Kinase

KW - Phosphotransferases

KW - Protein Isoforms

KW - Protein Kinases

KW - Reverse Transcriptase Polymerase Chain Reaction

KW - Rho Guanine Nucleotide Exchange Factors

KW - Sequence Homology, Amino Acid

U2 - 10.1007/s10974-005-9025-6

DO - 10.1007/s10974-005-9025-6

M3 - Article

C2 - 16625316

SN - 0142-4319

VL - 26

SP - 427

EP - 434

JO - Journal of Muscle Research and Cell Motility

JF - Journal of Muscle Research and Cell Motility

IS - 6-8

ER -