LDB3
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LIM domain binding 3 (LDB3), also known as Z-band alternatively spliced PDZ-motif (ZASP), is a
Structure
ZASP is a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. ZASP interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family.[5]
Human ZASP can exist in cardiac and skeletal cells as six distinct isoforms, based on alternative splicing of 16 exons.[7] There are 2 ZASP short forms (Uniprot ID: O75112-6, 31.0 kDa, 283 amino acids;[8] and Uniprot ID: O75112-5, 35.6 kDa, 330 amino acids);[9] and 4 ZASP long forms (Uniprot ID: O75112-4, 42.8 kDa, 398 amino acids;[10] Uniprot ID: O75112-3, 50.6 kDa, 470 amino acids;[11] Uniprot ID: O75112-2, 66.6 kDa, 617 amino acids;[12] and Uniprot ID: O75112, 77.1 kDa, 727 amino acids).[13][14] All ZASP isoforms have an N-terminal PDZ domain; internal, conserved sequences known as ZASP-like motifs (ZMs); and the four long isoforms have three C-terminal LIM domains.[7]
Function
ZASP functions to maintain structural integrity of sarcomeres during contraction, and has been shown to be involved in
Clinical significance
Mutations in ZASP have been associated with
Interactions
The
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000122367 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021798 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: LDB3 LIM domain binding 3".
- ^ PMID 10427098.
- ^ PMID 18021935.
- ^ "O75112-6". Archived from the original on 2015-06-13. Retrieved 2015-06-11.
- ^ "O75112-5". Archived from the original on 2015-06-13. Retrieved 2015-06-11.
- ^ "O75112-4". Archived from the original on 2015-06-13. Retrieved 2015-06-11.
- ^ "O75112-3". Archived from the original on 2015-06-13. Retrieved 2015-06-11.
- ^ "O75112-2". Archived from the original on 2015-06-13. Retrieved 2015-06-11.
- ^ "O75112". Archived from the original on 2015-06-13. Retrieved 2015-06-11.
- PMID 23965338.
- ^ PMID 23996002.
- PMID 22992465.
- ^ S2CID 25733755.
- ^ PMID 14662268.
- PMID 14660611.
- S2CID 21822009.
- PMID 22929165.
- ^ PMID 10391924.
- PMID 16476425.
- PMID 8940095.
Further reading
- Marziliano N, Mannarino S, Nespoli L, Diegoli M, Pasotti M, Malattia C, et al. (May 2007). "Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes". American Journal of Medical Genetics Part A. 143A (9): 907–15. S2CID 20328643.
- Klaavuniemi T, Ylänne J (May 2006). "Zasp/Cypher internal ZM-motif containing fragments are sufficient to co-localize with alpha-actinin--analysis of patient mutations". Experimental Cell Research. 312 (8): 1299–311. PMID 16476425.
- Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (Jan 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. PMID 16344560.
- Frey N, Olson EN (Apr 2002). "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins". The Journal of Biological Chemistry. 277 (16): 13998–4004. PMID 11842093.
- Hartley JL, Temple GF, Brasch MA (Nov 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. PMID 11076863.
- Passier R, Richardson JA, Olson EN (Apr 2000). "Oracle, a novel PDZ-LIM domain protein expressed in heart and skeletal muscle". Mechanisms of Development. 92 (2): 277–84. S2CID 18254892.
- Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Jun 1998). "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Research. 5 (3): 169–76. PMID 9734811.
- Lanfranchi G, Muraro T, Caldara F, Pacchioni B, Pallavicini A, Pandolfo D, et al. (Jan 1996). "Identification of 4370 expressed sequence tags from a 3'-end-specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization". Genome Research. 6 (1): 35–42. PMID 8681137.
External links
- GeneReviews/NIH/NCBI/UW entry on Myofibrillar Myopathy
- Overview of all the structural information available in the PDB for UniProt: O75112 (Human LIM domain-binding protein 3) at the PDBe-KB.
- Overview of all the structural information available in the PDB for UniProt: Q9JKS4 (Mouse LIM domain-binding protein 3) at the PDBe-KB.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.