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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ADD1
adducin 1
Chromosome 4 · 4p16.3
NCBI Gene: 118Ensembl: ENSG00000087274.19HGNC: HGNC:243UniProt: A0A804HL01
302PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmpositive regulation of establishment of endothelial barrierpositive regulation of adherens junction organizationcytoskeletal anchor activityneurodegenerative diseaseVentriculomegalyIntellectual disabilityGlobal developmental delay
✦AI Summary

ADD1 encodes alpha-adducin, a membrane-cytoskeleton-associated protein that promotes assembly of the spectrin-actin network and binds to calmodulin. The protein functions in actin cytoskeleton organization and actin filament capping. ADD1 has significant clinical relevance in cardiovascular disease, particularly hypertension. The Gly460Trp polymorphism (rs4961) shows population-specific associations with essential hypertension risk, with meta-analyses demonstrating increased hypertension susceptibility in Asian populations 1. This polymorphism also influences blood pressure response to hydrochlorothiazide therapy, with carriers showing different therapeutic responses 2. In Caucasian populations from Madeira Island, the Gly460Trp variant independently increases essential hypertension risk 3. ADD1 polymorphisms are associated with ischemic stroke susceptibility and correlate with magnetic resonance angiographic abnormalities in stroke patients 45. Additionally, variant T allele carriers may have increased risk of new-onset diabetes when treated with diuretic antihypertensive therapy 6. Recent genome-wide association studies have also identified ADD1 as a potentially novel risk loci for Parkinson's disease across multiple ancestries 7. The protein also participates in transcriptional regulation, with ADD1/SREBP1c competing with TWIST2 for DNA binding sites 8.

Sources cited
1
ADD1 Gly460Trp polymorphism shows increased hypertension risk in Asian populations
PMID: 26042478
2
ADD1 polymorphism influences blood pressure response to hydrochlorothiazide therapy
PMID: 23863317
3
ADD1 Gly460Trp variant independently increases essential hypertension risk in Caucasian population
PMID: 29049185
4
ADD1 polymorphisms associate with ischemic stroke and MRA abnormalities
PMID: 23540412
5
ADD1 rs4961 polymorphism associated with ischemic stroke susceptibility
PMID: 32971583
6
ADD1 variant T allele increases diabetes risk with diuretic therapy
PMID: 30062972
7
ADD1 identified as novel risk loci for Parkinson's disease in multi-ancestry GWAS
PMID: 38155330
8
ADD1/SREBP1c competes with TWIST2 for DNA binding in transcriptional regulation
PMID: 37761873
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
VentriculomegalyOpen Targets
0.42Moderate
Intellectual disabilityOpen Targets
0.42Moderate
Abnormal corpus callosum morphologyOpen Targets
0.42Moderate
Global developmental delayOpen Targets
0.42Moderate
SeizureOpen Targets
0.42Moderate
Neurodevelopmental disorderOpen Targets
0.40Moderate
smoking initiationOpen Targets
0.33Weak
Abruptio PlacentaeOpen Targets
0.28Weak
esophageal atresia/tracheoesophageal fistulaOpen Targets
0.26Weak
Tracheoesophageal fistulaOpen Targets
0.26Weak
Abdominal painOpen Targets
0.20Weak
metabolic diseaseOpen Targets
0.17Weak
lower respiratory tract diseaseOpen Targets
0.11Weak
Blackfan-Diamond anemiaOpen Targets
0.07Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.06Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.06Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.06Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.05Suggestive
Rh deficiency syndromeOpen Targets
0.05Suggestive
Pathogenic Variants1
NM_001354761.2(ADD1):c.1A>G (p.Met1Val)Likely pathogenic
Esophageal atresia/tracheoesophageal fistula
☆☆☆☆2019→ Residue 1
View on ClinVar ↗
Related Genes
GAPDHProtein interaction100%ENOPH1Protein interaction98%TMOD1Protein interaction97%TMOD2Protein interaction96%TMOD4Protein interaction95%TMOD3Protein interaction94%
Tissue Expression6 tissues
Brain
100%
Ovary
86%
Lung
79%
Heart
77%
Bone Marrow
47%
Liver
41%
Gene Interaction Network
Click a node to explore
ADD1GAPDHENOPH1TMOD1TMOD2TMOD4TMOD3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P35611
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.39Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.27 [0.20–0.39]
RankingsWhere ADD1 stands among ~20K protein-coding genes
  • #1,150of 20,598
    Most Researched302 · top 10%
  • #4,666of 5,498
    Most Pathogenic Variants1
  • #1,880of 17,882
    Most Constrained (LOEUF)0.39 · top quartile
Genes detectedADD1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Multi-ancestry genome-wide association meta-analysis of Parkinson's disease.
PMID: 38155330
Nat Genet · 2024
1.00
2
Association of alpha-ADD1 Gene and Hypertension Risk: A Meta-Analysis.
PMID: 26042478
Med Sci Monit · 2015
0.90
3
Effects of ACE and ADD1 gene polymorphisms on blood pressure response to hydrochlorothiazide: a meta-analysis.
PMID: 23863317
Int J Clin Pharmacol Ther · 2013
0.80
4
Identification of druggable targets in acute kidney injury by proteome- and transcriptome-wide Mendelian randomization and bioinformatics analysis.
PMID: 40148878
Biol Direct · 2025
0.76
5
Mechanisms of Regulation of the
PMID: 37761873
Genes (Basel) · 2023
0.70