ADD1 (adducin 1)

2014-02-01  

Identity

HGNC
LOCATION
4p16.3
LOCUSID
ALIAS
ADDA
FUSION GENES

Other Information

Locus ID:

NCBI: 118
MIM: 102680
HGNC: 243
Ensembl: ENSG00000087274

Variants:

dbSNP: 118
ClinVar: 118
TCGA: ENSG00000087274
COSMIC: ADD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000087274ENST00000264758P35611
ENSG00000087274ENST00000355842P35611
ENSG00000087274ENST00000398123P35611
ENSG00000087274ENST00000398125P35611
ENSG00000087274ENST00000398129P35611
ENSG00000087274ENST00000446856A0A0A0MSR2
ENSG00000087274ENST00000503455E7ENY0
ENSG00000087274ENST00000508277D6RF25
ENSG00000087274ENST00000510101D6RJE2
ENSG00000087274ENST00000511797D6RAH3
ENSG00000087274ENST00000513328E7EV99
ENSG00000087274ENST00000514940H0Y9H2
ENSG00000087274ENST00000536424H0YFD8
ENSG00000087274ENST00000541843H0YG19
ENSG00000087274ENST00000651918P35611

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
IRE1alpha activates chaperonesREACTOMER-HSA-381070
XBP1(S) activates chaperone genesREACTOMER-HSA-381038
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Miscellaneous transport and binding eventsREACTOMER-HSA-5223345
Programmed Cell DeathREACTOMER-HSA-5357801
ApoptosisREACTOMER-HSA-109581
Apoptotic execution phaseREACTOMER-HSA-75153
Apoptotic cleavage of cellular proteinsREACTOMER-HSA-111465
Caspase-mediated cleavage of cytoskeletal proteinsREACTOMER-HSA-264870

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA151249535diureticsChemicalClinicalAnnotationassociatedPD11926892, 17189961
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD10523341, 11882573, 11926892, 12623934, 14553962, 17189961, 18591455, 19057513, 9149697
PA444797Liver CirrhosisDiseaseClinicalAnnotationassociatedPD21692745
PA445019Myocardial InfarctionDiseaseClinicalAnnotationassociatedPD11926892, 17189961
PA447288Essential hypertensionDiseaseClinicalAnnotationassociatedPD10523341, 11882573, 12623934, 14553962, 18591455, 19057513, 9149697
PA448682bumetanideChemicalClinicalAnnotationassociatedPD20877298
PA449719furosemideChemicalClinicalAnnotationassociatedPD20877298, 21692745
PA449899hydrochlorothiazideChemicalClinicalAnnotationassociatedPD10523341, 11882573, 12623934, 14553962, 18591455, 19057513, 9149697
PA451483spironolactoneChemicalClinicalAnnotationassociatedPD21692745
PA451733torasemideChemicalClinicalAnnotationassociatedPD20877298
PA62ATP1A1GenePathwayassociated23788015

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
195678822009Adducin forms a bridge between the erythrocyte membrane and its cytoskeleton and regulates membrane cohesion.59
208107862010Adducins regulate remodeling of apical junctions in human epithelial cells.42
185914552008Physiological interaction between alpha-adducin and WNK1-NEDD4L pathways on sodium-related blood pressure regulation.34
185914552008Physiological interaction between alpha-adducin and WNK1-NEDD4L pathways on sodium-related blood pressure regulation.34
150391252004Genotypes and haplotypes predisposing to myocardial infarction: a multilocus case-control study.33
180039732008Adducin promotes micrometer-scale organization of beta2-spectrin in lateral membranes of bronchial epithelial cells.29
115188422001Effects of three candidate genes on prevalence and incidence of hypertension in a Caucasian population.28
119268922002Diuretic therapy, the alpha-adducin gene variant, and the risk of myocardial infarction or stroke in persons with treated hypertension.27
119268922002Diuretic therapy, the alpha-adducin gene variant, and the risk of myocardial infarction or stroke in persons with treated hypertension.27

Citation

Dessen P

ADD1 (adducin 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-02-01

Online version: http://atlasgeneticsoncology.org/gene/53920/add1