LDB3
From Wikipedia, the free encyclopedia
| LIM domain binding 3 | |||||||||||||
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 PDB rendering based on 1rgw. | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | LDB3; CMD1C; CYPHER; LDB3Z1; LDB3Z4; LVNC3; ORACLE; PDLIM6; ZASP | ||||||||||||
| External IDs | OMIM: 605906 MGI: 1344412 HomoloGene: 48499 GeneCards: LDB3 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| Species | Human | Mouse | |||||||||||
| Entrez | 11155 | 24131 | |||||||||||
| Ensembl | ENSG00000122367 | ENSMUSG00000021798 | |||||||||||
| UniProt | O75112 | Q9JKS4 | |||||||||||
| RefSeq (mRNA) | NM_001080114 | NM_001039071.2 | |||||||||||
| RefSeq (protein) | NP_001073583 | NP_001034160.1 | |||||||||||
| Location (UCSC) | Chr 10: 88.43 – 88.5 Mb | Chr 14: 35.34 – 35.4 Mb | |||||||||||
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LIM domain binding 3, also known as LDB3 or ZASP, is a protein which in humans is encoded by the LDB3 gene.[1][2]
Function
This gene encodes 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. The protein encoded by this gene 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. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1 and 2) have C-terminal LIM domains.[1]
Clinical significance
Mutations in this gene have been associated with myofibrillar myopathy[3] and dilated cardiomyopathy.[4][5]
See also
References
- ↑ 1.0 1.1 "Entrez Gene: LDB3 LIM domain binding 3".
- ↑ Faulkner G, Pallavicini A, Formentin E, Comelli A, Ievolella C, Trevisan S, Bortoletto G, Scannapieco P, Salamon M, Mouly V, Valle G, Lanfranchi G (July 1999). "ZASP: a new Z-band alternatively spliced PDZ-motif protein" (). J. Cell Biol. 146 (2): 465–75. doi:10.1083/jcb.146.2.465. PMID 10427098.
- ↑ Selcen D, Engel AG (February 2005). "Mutations in ZASP define a novel form of muscular dystrophy in humans". Ann. Neurol. 57 (2): 269–76. doi:10.1002/ana.20376. PMID 15668942.
- ↑ Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, Sinagra G, Lin JH, Vu TM, Zhou Q, Bowles KR, Di Lenarda A, Schimmenti L, Fox M, Chrisco MA, Murphy RT, McKenna W, Elliott P, Bowles NE, Chen J, Valle G, Towbin JA (December 2003). "Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction". J. Am. Coll. Cardiol. 42 (11): 2014–27. doi:10.1016/j.jacc.2003.10.021. PMID 14662268.
- ↑ Arimura T, Hayashi T, Terada H, Lee SY, Zhou Q, Takahashi M, Ueda K, Nouchi T, Hohda S, Shibutani M, Hirose M, Chen J, Park JE, Yasunami M, Hayashi H, Kimura A (February 2004). "A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C". J. Biol. Chem. 279 (8): 6746–52. doi:10.1074/jbc.M311849200. PMID 14660611.
Further reading
- Marziliano N, Mannarino S, Nespoli L et al. (2007). "Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes". Am. J. Med. Genet. A 143 (9): 907–15. doi:10.1002/ajmg.a.31653. PMID 17394203.
- Klaavuniemi T, Ylänne J (2006). "Zasp/Cypher internal ZM-motif containing fragments are sufficient to co-localize with alpha-actinin--analysis of patient mutations". Exp. Cell Res. 312 (8): 1299–311. doi:10.1016/j.yexcr.2005.12.036. PMID 16476425.
- Kimura K, Wakamatsu A, Suzuki Y et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Arimura T, Hayashi T, Terada H et al. (2004). "A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C". J. Biol. Chem. 279 (8): 6746–52. doi:10.1074/jbc.M311849200. PMID 14660611.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Frey N, Olson EN (2002). "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins". J. Biol. Chem. 277 (16): 13998–4004. doi:10.1074/jbc.M200712200. PMID 11842093.
- Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
- Passier R, Richardson JA, Olson EN (2000). "Oracle, a novel PDZ-LIM domain protein expressed in heart and skeletal muscle". Mech. Dev. 92 (2): 277–84. doi:10.1016/S0925-4773(99)00330-5. PMID 10727866.
- Faulkner G, Pallavicini A, Formentin E et al. (1999). "ZASP: a new Z-band alternatively spliced PDZ-motif protein". J. Cell Biol. 146 (2): 465–75. doi:10.1083/jcb.146.2.465. PMID 10427098.
- Zhou Q, Ruiz-Lozano P, Martone ME, Chen J (1999). "Cypher, a striated muscle-restricted PDZ and LIM domain-containing protein, binds to alpha-actinin-2 and protein kinase C". J. Biol. Chem. 274 (28): 19807–13. doi:10.1074/jbc.274.28.19807. PMID 10391924.
- Ishikawa K, Nagase T, Suyama M et al. (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 Res. 5 (3): 169–76. doi:10.1093/dnares/5.3.169. PMID 9734811.
- Lanfranchi G, Muraro T, Caldara F et al. (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 Res. 6 (1): 35–42. doi:10.1101/gr.6.1.35. PMID 8681137.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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