LDB3 - LIM domain binding 3 Gene
Also Known as MFM4; ZASP; CMD1C; CMH24; CMPD3; LVNC3; CYPHER; LDB3Z1; LDB3Z4; ORACLE; PDLIM6
Species: Homo sapiens
About LDB3
This gene has 22 transcripts (splice variants), 238 orthologues, 7 paralogues and is associated with 10 phenotypes. Biased expression in heart (RPKM 95.5), prostate (RPKM 11.4) and 1 other tissue.
Summary
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]
LDB3 Products (12)
| mRNA | Protein | Name |
|---|---|---|
| NM_001080114.2 | NP_001073583.1 | LIM domain-binding protein 3 isoform 2 |
| NM_001080115.2 | NP_001073584.1 | LIM domain-binding protein 3 isoform 3 |
| NM_001080116.1 | NP_001073585.1 | LIM domain-binding protein 3 isoform 4 |
| NM_001171610.2 | NP_001165081.1 | LIM domain-binding protein 3 isoform 5 |
| NM_001171611.2 | NP_001165082.1 | LIM domain-binding protein 3 isoform 6 |
| NM_001368063.1 | NP_001354992.1 | LIM domain-binding protein 3 isoform 3 |
| NM_001368064.1 | NP_001354993.1 | LIM domain-binding protein 3 isoform 7 |
| NM_001368065.1 | NP_001354994.1 | LIM domain-binding protein 3 isoform 7 |
| NM_001368066.1 | NP_001354995.1 | LIM domain-binding protein 3 isoform 8 |
| NM_001368067.1 | NP_001354996.1 | LIM domain-binding protein 3 isoform 4 |
| NM_001368068.1 | NP_001354997.1 | LIM domain-binding protein 3 isoform 4 |
| NM_007078.3 | NP_009009.1 | LIM domain-binding protein 3 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables cytoskeletal protein binding |
IPI
IPI: Inferred from physical interaction
|
17987659 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10427098 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Z disc |
IDA
IDA: Inferred from direct assay
|
10427098 | GOA |
| located in cytoskeleton |
IDA
IDA: Inferred from direct assay
|
10427098 | GOA |
LDB3 Protein Structure
PDZ: PDZ domain (Also known as DHR or GLGF) (9 - 81)
LIM: LIM domain (551 - 604)
LIM: LIM domain (610 - 664)
LIM: LIM domain (669 - 721)
- 0
- 200
- 400
- 600
- 727 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
LIM domain-binding protein 3 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cardiomyopathy, Dilated, 1c, With Or Without Left Ventricular Noncompaction |
|
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| Myopathy, Myofibrillar, 4 |
|
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| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
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| Myofibrillar Myopathy |
|
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| Neuromuscular Disease |
|
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| Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form |
|
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| Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form |
|
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| Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form |
|
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| Familial Isolated Dilated Cardiomyopathy |
|
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| Dilated Cardiomyopathy |
|
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| Left Ventricular Noncompaction |
|
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| Myopathy |
|
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| Barth Syndrome |
|
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| Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 2 |
|
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| Myopathy, Myofibrillar, 2 |
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| Cardiomyopathy, Familial Hypertrophic, 25 |
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| Myopathy, Myofibrillar, 3 |
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| Myopathy, Myofibrillar, 1 |
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| Myopathy, Myofibrillar, 5 |
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| Scapuloperoneal Myopathy |
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| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
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| Myopathy, Spheroid Body |
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| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
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| Tibial Muscular Dystrophy |
|
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| Cardiomyopathy, Dilated, 1dd |
|
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| Nonaka Myopathy |
|
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| Muscular Dystrophy, Congenital, Lmna-Related |
|
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| Myotonic Disease |
|
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| Endocardial Fibroelastosis |
|
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| Myopathy, Distal, 1 |
|
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| Hyaline Body Myopathy |
|
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| Ebstein Anomaly |
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| Muscular Dystrophy |
|
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| Rigid Spine Muscular Dystrophy 1 |
|
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| Lissencephaly 2 |
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| Myotonic Dystrophy 1 |
|
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| Restrictive Cardiomyopathy |
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| Intrinsic Cardiomyopathy |
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| Emery-Dreifuss Muscular Dystrophy |
|
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
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| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
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| Limb-Girdle Muscular Dystrophy |
|
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| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
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| Congenital Fiber-Type Disproportion |
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| Hypertrophic Cardiomyopathy |
|
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| Brugada Syndrome |
|
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| Walker-Warburg Syndrome |
|
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| Cardiomyopathy, Familial Hypertrophic, 1 |
|
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| Patent Foramen Ovale |
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