Human Gene LDB3 (ENST00000372066.8) from GENCODE V44
Description: Homo sapiens LIM domain binding 3 (LDB3), transcript variant 12, mRNA. (from RefSeq NM_001368068) RefSeq Summary (NM_001080116): 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. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have C-terminal LIM domains. [provided by RefSeq, Jan 2010]. Gencode Transcript: ENST00000372066.8 Gencode Gene: ENSG00000122367.21 Transcript (Including UTRs) Position: hg38 chr10:86,668,613-86,700,050 Size: 31,438 Total Exon Count: 8 Strand: + Coding Region Position: hg38 chr10:86,668,692-86,699,374 Size: 30,683 Coding Exon Count: 8
ID:LDB3_HUMAN DESCRIPTION: RecName: Full=LIM domain-binding protein 3; AltName: Full=Protein cypher; AltName: Full=Z-band alternatively spliced PDZ-motif protein; FUNCTION: May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton. SUBUNIT: Interacts via its LIM domains with various PKC isoforms (By similarity). Interacts via its PDZ domain with the ACTN2 C- terminal region. Interacts with MYOZ1, MYOZ2 and MYOZ3. SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Cell projection, pseudopodium. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Note=Localized to the cytoplasm around nuclei and pseudopodia of undifferentiated cells and detected throughout the myotubes of differentiated cells. Colocalizes with ACTN2 at the Z-lines. TISSUE SPECIFICITY: Expressed primarily in skeletal muscle and to a lesser extent in heart. Also detected in brain and placenta. DISEASE: Defects in LDB3 are the cause of cardiomyopathy dilated type 1C (CMD1C) [MIM:601493]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. DISEASE: Defects in LDB3 are the cause of left ventricular non- compaction type 3 (LVNC3) [MIM:601493]. Left ventricular non- compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle. DISEASE: Defects in LDB3 are the cause of myopathy myofibrillar type 4 (MFM4) [MIM:609452]. A neuromuscular disorder characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy. SIMILARITY: Contains 3 LIM zinc-binding domains. SIMILARITY: Contains 1 PDZ (DHR) domain. SEQUENCE CAUTION: Sequence=BAA31588.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LDB3";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O75112
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
