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
348596872022The adducin saga: pleiotropic genomic targets for precision medicine in human hypertension-vascular, renal, and cognitive diseases.5
348596872022The adducin saga: pleiotropic genomic targets for precision medicine in human hypertension-vascular, renal, and cognitive diseases.5
319433232020Letter to the editor: Association between α-adducin rs4961 polymorphism and hypertension: A meta-analysis based on 40 432 subjects.0
322379352020Increased expression of phosphorylated adducin in tumor cells.0
329715832020Association of TBXA2R, P2Y12 and ADD1 genes polymorphisms with ischemic stroke susceptibility: A metaanalysis.4
319433232020Letter to the editor: Association between α-adducin rs4961 polymorphism and hypertension: A meta-analysis based on 40 432 subjects.0
322379352020Increased expression of phosphorylated adducin in tumor cells.0
329715832020Association of TBXA2R, P2Y12 and ADD1 genes polymorphisms with ischemic stroke susceptibility: A metaanalysis.4
300629722019Alpha Adducin (ADD1) Gene Polymorphism and New Onset of Diabetes Under the Influence of Selective Antihypertensive Therapy in Essential Hypertension.2
305527092019Association between α-adducin rs4961 polymorphism and hypertension: A meta-analysis based on 40 432 subjects.5
300629722019Alpha Adducin (ADD1) Gene Polymorphism and New Onset of Diabetes Under the Influence of Selective Antihypertensive Therapy in Essential Hypertension.2
305527092019Association between α-adducin rs4961 polymorphism and hypertension: A meta-analysis based on 40 432 subjects.5
299255262018Adducin-1 is essential for spindle pole integrity through its interaction with TPX2.7
299255262018Adducin-1 is essential for spindle pole integrity through its interaction with TPX2.7
286861092017α-Adducin gene promoter DNA methylation and the risk of essential hypertension.4

Citation

Dessen P

ADD1 (adducin 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-02-01

Online version: http://atlasgeneticsoncology.org/gene/53920/add1-(adducin-1)