LDB3

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LIM domain binding 3
Protein LDB3 PDB 1rgw.png
PDB rendering based on 1rgw.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols LDB3 ; CMD1C; CMPD3; CYPHER; LDB3Z1; LDB3Z4; LVNC3; MFM4; ORACLE; PDLIM6; ZASP
External IDs OMIM605906 MGI1344412 HomoloGene134626 GeneCards: LDB3 Gene
RNA expression pattern
PBB GE LDB3 213371 at tn.png
PBB GE LDB3 216887 s at tn.png
PBB GE LDB3 213717 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 11155 24131
Ensembl ENSG00000122367 ENSMUSG00000021798
UniProt O75112 Q9JKS4
RefSeq (mRNA) NM_001080114 NM_001039071
RefSeq (protein) NP_001073583 NP_001034160
Location (UCSC) Chr 10:
88.43 – 88.5 Mb
Chr 14:
34.53 – 34.59 Mb
PubMed search [1] [2]

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[edit]

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[edit]

Mutations in this gene have been associated with myofibrillar myopathy[3] and dilated cardiomyopathy.[4][5]

See also[edit]

References[edit]

  1. ^ a b "Entrez Gene: LDB3 LIM domain binding 3". 
  2. ^ 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" ([dead link]). J. Cell Biol. 146 (2): 465–75. doi:10.1083/jcb.146.2.465. PMC 3206570. PMID 10427098. 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ 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[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


External links[edit]