DTNA - dystrobrevin alpha Gene
Also Known as DTN; DRP3; DTN-A; LVNC1; D18S892E
Species: Homo sapiens
About DTNA
This gene has 65 transcripts (splice variants), 225 orthologues, 36 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 27.5), heart (RPKM 10.7) and 10 other tissues.
Summary
The protein encoded by this gene belongs to the dystrobrevin subfamily of the Dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of Dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
DTNA Products (44)
| mRNA | Protein | Name |
|---|---|---|
| NM_001128175.2 | NP_001121647.1 | dystrobrevin alpha isoform 9 |
| NM_001198938.2 | NP_001185867.1 | dystrobrevin alpha isoform 10 |
| NM_001198939.2 | NP_001185868.1 | dystrobrevin alpha isoform 11 |
| NM_001198940.2 | NP_001185869.1 | dystrobrevin alpha isoform 12 |
| NM_001198941.2 | NP_001185870.1 | dystrobrevin alpha isoform 13 |
| NM_001198942.1 | NP_001185871.1 | dystrobrevin alpha isoform 14 |
| NM_001198943.1 | NP_001185872.1 | dystrobrevin alpha isoform 15 |
| NM_001198944.1 | NP_001185873.1 | dystrobrevin alpha isoform 16 |
| NM_001198945.2 | NP_001185874.1 | dystrobrevin alpha isoform 17 |
| NM_001386753.1 | NP_001373682.1 | dystrobrevin alpha isoform 10 |
| NM_001386754.1 | NP_001373683.1 | dystrobrevin alpha isoform 18 |
| NM_001386755.1 | NP_001373684.1 | dystrobrevin alpha isoform 18 |
| NM_001386756.1 | NP_001373685.1 | dystrobrevin alpha isoform 18 |
| NM_001386757.1 | NP_001373686.1 | dystrobrevin alpha isoform 18 |
| NM_001386758.1 | NP_001373687.1 | dystrobrevin alpha isoform 18 |
| NM_001386759.1 | NP_001373688.1 | dystrobrevin alpha isoform 18 |
| NM_001386760.1 | NP_001373689.1 | dystrobrevin alpha isoform 19 |
| NM_001386761.1 | NP_001373690.1 | dystrobrevin alpha isoform 2 |
| NM_001386762.1 | NP_001373691.1 | dystrobrevin alpha isoform 20 |
| NM_001386763.1 | NP_001373692.1 | dystrobrevin alpha isoform 12 |
| NM_001386764.1 | NP_001373693.1 | dystrobrevin alpha isoform 12 |
| NM_001386765.1 | NP_001373694.1 | dystrobrevin alpha isoform 12 |
| NM_001386766.1 | NP_001373695.1 | dystrobrevin alpha isoform 12 |
| NM_001386767.1 | NP_001373696.1 | dystrobrevin alpha isoform 12 |
| NM_001386768.1 | NP_001373697.1 | dystrobrevin alpha isoform 21 |
| NM_001386769.1 | NP_001373698.1 | dystrobrevin alpha isoform 21 |
| NM_001386770.1 | NP_001373699.1 | dystrobrevin alpha isoform 22 |
| NM_001386771.1 | NP_001373700.1 | dystrobrevin alpha isoform 13 |
| NM_001386772.1 | NP_001373701.1 | dystrobrevin alpha isoform 13 |
| NM_001386773.1 | NP_001373702.1 | dystrobrevin alpha isoform 23 |
| NM_001386774.1 | NP_001373703.1 | dystrobrevin alpha isoform 23 |
| NM_001386775.1 | NP_001373704.1 | dystrobrevin alpha isoform 7 |
| NM_001386776.1 | NP_001373705.1 | dystrobrevin alpha isoform 9 |
| NM_001386777.1 | NP_001373706.1 | dystrobrevin alpha isoform 9 |
| NM_001386788.1 | NP_001373717.1 | dystrobrevin alpha isoform 24 |
| NM_001386795.1 | NP_001373724.1 | dystrobrevin alpha isoform 24 |
| NM_001390.5 | NP_001381.2 | dystrobrevin alpha isoform 1 |
| NM_001391.5 | NP_001382.2 | dystrobrevin alpha isoform 3 |
| NM_001392.5 | NP_001383.2 | dystrobrevin alpha isoform 7 |
| NM_032975.4 | NP_116757.2 | dystrobrevin alpha isoform 2 |
| NM_032978.7 | NP_116760.2 | dystrobrevin alpha isoform 4 |
| NM_032979.5 | NP_116761.2 | dystrobrevin alpha isoform 5 |
| NM_032980.4 | NP_116762.2 | dystrobrevin alpha isoform 6 |
| NM_032981.5 | NP_116763.1 | dystrobrevin alpha isoform 8 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
9356463 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of protein-containing complex |
IDA
IDA: Inferred from direct assay
|
18468998 | GOA |
DTNA Protein Structure
EF-hand_2: EF hand (15 - 140)
EF-hand_3: EF-hand (144 - 232)
ZZ: Zinc finger, ZZ type (240 - 280)
- 0
- 200
- 400
- 600
- 743 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dystrobrevin alpha |
|
DTNA Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
DTNA | Q9Y4J8 | DMD | Homo sapiens | P11532 | 10767429 | |
|
Intra
|
DTNA | Q9Y4J8 | UTRN | Homo sapiens | P46939 | 10767429 | |
|
Intra
|
DTNA | Q9Y4J8 | CTNNAL1 | Homo sapiens | Q9UBT7 | 21115837 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Left Ventricular Noncompaction 1 |
|
|
| Left Ventricular Noncompaction |
|
|
| Meniere Disease |
|
|
| Barth Syndrome |
|
|
| Muscular Dystrophy |
|
|
| Peripheral Vertigo |
|
|
| Muscular Dystrophy, Duchenne Type |
|
|
| Ebstein Anomaly |
|
|
| Myopathy |
|
|
| Muscular Dystrophy, Becker Type |
|
|
| Vestibular Disease |
|
|
| Muscular Dystrophy, Congenital, Lmna-Related |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
|
| Congenital Myasthenic Syndrome |
|
|
| Neuromuscular Disease |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Dilated Cardiomyopathy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | DTNA | VGNC | VGNC:61643 |
| Mus musculus | DTNA | MGD | MGI:106039 |
| Macaca mulatta | DTNA | VGNC | VGNC:72007 |
| Rattus norvegicus | DTNA | RGD | RGD:1561985 |
| Canis familiaris | DTNA | VGNC | VGNC:40114 |
| Bos taurus | DTNA | VGNC | VGNC:28231 |
| Others | DTNA | NCBI |