ADD1

Alpha-adducin is a protein that in humans is encoded by the ADD1 gene.^[5][6]

AliasesADD1, ADDA, adducin 1

External IDsOMIM: 102680; MGI: 87918; HomoloGene: 22758; GeneCards: ADD1; OMA:ADD1 - orthologs

Chr.Chromosome 4 (human)^[1]

End2,930,076 bp^[1]

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ADD1
Identifiers
Aliases	ADD1, ADDA, adducin 1
External IDs	OMIM: 102680; MGI: 87918; HomoloGene: 22758; GeneCards: ADD1; OMA:ADD1 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4p16.3 Start 2,843,844 bp[1] End 2,930,076 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 B2|5 17.9 cM Start 34,731,008 bp[2] End 34,789,652 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum tibial nerve right frontal lobe body of uterus right ovary left ovary muscle layer of sigmoid colon sural nerve putamen right lung Top expressed in neural layer of retina dentate gyrus of hippocampal formation granule cell superior frontal gyrus external carotid artery internal carotid artery primary visual cortex genital tubercle tail of embryo fetal liver hematopoietic progenitor cell granulocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function spectrin binding protein homodimerization activity transcription factor binding structural molecule activity calmodulin binding actin filament binding protein binding protein heterodimerization activity actin binding RNA binding cadherin binding Cellular component F-actin capping protein complex cytosol membrane focal adhesion plasma membrane nucleoplasm cytoskeleton nucleus nuclear body cytoplasm postsynaptic density plasma membrane raft Biological process cell volume homeostasis multicellular organism growth barbed-end actin filament capping in utero embryonic development actin filament bundle assembly IRE1-mediated unfolded protein response transmembrane transport cell morphogenesis erythrocyte differentiation homeostasis of number of cells within a tissue positive regulation of protein binding actin cytoskeleton organization hemoglobin metabolic process cellular response to calcium ion positive regulation of establishment of endothelial barrier positive regulation of adherens junction organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 118 11518 Ensembl ENSG00000087274 ENSMUSG00000029106 UniProt P35611 Q9QYC0 RefSeq (mRNA) NM_001119 NM_001286645 NM_014189 NM_014190 NM_176801 NM_001354754 NM_001354755 NM_001354756 NM_001354757 NM_001354759 NM_001354761 NM_001354762 NM_001354758 NM_001024458 NM_001102444 NM_013457 NM_001331080 NM_001331081 NM_001331082 NM_001331083 NM_001331084 NM_001331085 NM_001331086 NM_001331087 RefSeq (protein) NP_001110 NP_001273574 NP_054908 NP_054909 NP_789771 NP_001341683 NP_001341684 NP_001341685 NP_001341686 NP_001341688 NP_001341690 NP_001341691 NP_001341687 NP_001019629 NP_001095914 NP_001318009 NP_001318010 NP_001318011 NP_001318012 NP_001318013 NP_001318014 NP_001318015 NP_001318016 NP_038485 Location (UCSC) Chr 4: 2.84 – 2.93 Mb Chr 5: 34.73 – 34.79 Mb PubMed search [3] [4]
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Adducins are a family of cytoskeleton proteins encoded by three genes (alpha, beta, gamma). Adducin is a heterodimeric protein that consists of related subunits, which are produced from distinct genes but share a similar structure. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Alpha- and gamma-adducins are ubiquitously expressed. In contrast, beta-adducin is expressed at high levels in brain and hematopoietic tissues. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. Alternative splicing results in multiple variants encoding distinct isoforms; however, not all variants have been fully described. Polymorphism in ADD1 is associated with hypertension.^[6]