ADD1 - adducin 1 Gene
Also Known as ADDA
Species: Homo sapiens
About ADD1
This gene has 29 transcripts (splice variants), 217 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 57.3), ovary (RPKM 51.1) and 25 other tissues.
Summary
Adducins are a family of cytoskeletal proteins encoded by three genes (alpha, beta, and gamma). Adducin acts as a heterodimer of the related alpha, beta, or gamma subunits. The protein encoded by this gene represents the alpha subunit. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Adducin binds with high affinity to CA(2+)/Calmodulin and is a substrate for protein kinases A and C. [provided by RefSeq, Aug 2017]
ADD1 Products (13)
| mRNA | Protein | Name |
|---|---|---|
| NM_001119.5 | NP_001110.2 | alpha-adducin isoform a |
| NM_001286645.2 | NP_001273574.1 | alpha-adducin isoform e |
| NM_001354754.2 | NP_001341683.1 | alpha-adducin isoform a |
| NM_001354755.2 | NP_001341684.1 | alpha-adducin isoform a |
| NM_001354756.2 | NP_001341685.1 | alpha-adducin isoform f |
| NM_001354757.2 | NP_001341686.1 | alpha-adducin isoform c |
| NM_001354758.2 | NP_001341687.1 | alpha-adducin isoform c |
| NM_001354759.2 | NP_001341688.1 | alpha-adducin isoform e |
| NM_001354761.2 | NP_001341690.1 | alpha-adducin isoform g |
| NM_001354762.2 | NP_001341691.1 | alpha-adducin isoform h |
| NM_014189.4 | NP_054908.2 | alpha-adducin isoform b |
| NM_014190.4 | NP_054909.2 | alpha-adducin isoform c |
| NM_176801.3 | NP_789771.1 | alpha-adducin isoform d |
| Molecular Function GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| enables RNA polymerase II-specific DNA-binding transcription factor binding |
IPI
IPI: Inferred from physical interaction
|
16289097 | GOA |
| enables actin filament binding |
IDA
IDA: Inferred from direct assay
|
7642559 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25416956 | GOA |
| enables protein dimerization activity |
IPI
IPI: Inferred from physical interaction
|
7642559 | GOA |
| enables protein heterodimerization activity |
IPI
IPI: Inferred from physical interaction
|
7642559 | GOA |
| enables protein homodimerization activity |
IPI
IPI: Inferred from physical interaction
|
7642559 | GOA |
| enables spectrin binding |
IDA
IDA: Inferred from direct assay
|
7642559 | GOA |
| Biological Process GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| involved in actin filament bundle assembly |
IDA
IDA: Inferred from direct assay
|
3693401 | GOA |
| involved in barbed-end actin filament capping |
IDA
IDA: Inferred from direct assay
|
8626479 | GOA |
| involved in cellular response to calcium ion |
IDA
IDA: Inferred from direct assay
|
25978380 | GOA |
| involved in positive regulation of adherens junction organization |
IDA
IDA: Inferred from direct assay
|
25978380 | GOA |
| involved in positive regulation of establishment of endothelial barrier |
IDA
IDA: Inferred from direct assay
|
25978380 | GOA |
| involved in positive regulation of protein binding |
IDA
IDA: Inferred from direct assay
|
3693401 | GOA |
| Cellular Component GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| part of F-actin capping protein complex |
IDA
IDA: Inferred from direct assay
|
8626479 | GOA |
| located in adherens junction |
IDA
IDA: Inferred from direct assay
|
25978380 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
25978380 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
16289097 | GOA |
| colocalizes with plasma membrane |
IDA
IDA: Inferred from direct assay
|
25978380 | GOA |
ADD1 Protein Structure
Aldolase_II: Class II Aldolase and Adducin N-terminal domain (147 - 329)
- 0
- 200
- 400
- 600
- 737 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
alpha-adducin |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hypertension, Essential |
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| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
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| Esophageal Atresia |
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| Gastroschisis |
|
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| Hereditary Elliptocytosis |
|
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| Hereditary Spherocytosis |
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| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
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| Huntington Disease |
|
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| Hyperlipidemia, Familial Combined, 3 |
|
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| Iga Glomerulonephritis |
|
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| Cerebral Palsy |
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| Myocardial Infarction |
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| Hyperaldosteronism, Familial, Type I |
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| Liddle Syndrome 1 |
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| Alcohol Dependence |
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| Stroke, Ischemic |
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