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FLASH GENE
Symbol ADD1 contributors: mct - updated : 10-03-2015
HGNC name adducin 1 (alpha)
HGNC id 243
Location 4p16.3      Physical location : 2.845.583 - 2.931.787
Synonym name erythrocyte adducin alpha subunit
Synonym symbol(s) ADDA, ADU, MGC3339, MGC44427
DNA
TYPE functioning gene
STRUCTURE 86.35 kb     16 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map see HD
Physical map
KIAA1530 4p16.3 KIAA1530 protein FLJ34443 4p16.3 hypothetical protein FLJ34443 HSPX153 4p16.3 HPX-153 homeobox LOC345375 4p16.3 similar to CG32656-PA LOC152877 4p16.3 similar to RIKEN cDNA 5430419M09 SLBP 4p16 stem-loop (histone) binding protein LOC92305 4p16.3 hypothetical protein BC009331 TACC3 4p16.3 transforming, acidic coiled-coil containing protein 3 FGFR3 4p16.3 fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) LETM1 4p16.3 leucine zipper-EF-hand containing transmembrane protein 1 WHSC1 4p16.3 Wolf-Hirschhorn syndrome candidate 1 WHSC2 4p16.3 Wolf-Hirschhorn syndrome candidate 2 LOC389195 4 hypothetical gene supported by BC038466; BC047038 FLJ37478 4p16.3 hypothetical protein FLJ37478 POLN 4p16.3 polymerase (DNA directed) nu MGC4701 4p16.3 hypothetical protein MGC4701 MXD4 4p16.3 MAX dimerization protein 4 KIAA1643 4p16.3 KIAA1643 protein LOC339985 4p16.3 hypothetical gene supported by BC010180 RNF4 4p16.3 ring finger protein 4 C4orf8 4p16.3 chromosome 4 open reading frame 8 TNIP2 4p16.3 TNFAIP3 interacting protein 2 LOC389196 4 LOC389196 SH3BP2 4p16.3 SH3-domain binding protein 2 ADD1 4p16.3 adducin 1 (alpha) TETRAN 4p16.3 tetracycline transporter-like protein C4orf9 4p16.3 chromosome 4 open reading frame 9 GPRK2L 4p16.3 G protein-coupled receptor kinase 2-like (Drosophila) HD 4p16.3 huntingtin (Huntington disease) LOC345222 4p16.3 hypothetical gene supported by BC043530 RGS12 4p16.3 regulator of G-protein signalling 12 HGFAC 4p16.3 HGF activator FLJ33718 4p16.3 hypothetical protein FLJ33718 LOC391612 4 similar to hypothetical protein MGC45871 LRPAP1 4p16.3 low density lipoprotein receptor-related protein associated protein 1 FLJ35424 4p16.3 hypothetical protein FLJ35424 ADRA2C 4p16.3-p15 adrenergic, alpha-2C-, receptor LOC391613 4 similar to mannosyltransferase LOC196483 LOC391614 4 similar to Alkaline sphingomyelinase LOC391615 4 similar to 40S RIBOSOMAL PROTEIN S3A (V-FOS TRANSFORMATION EFFECTOR PROTEIN) LOC391616 4 similar to chromosome 11 open reading frame2; chromosome  11 open reading frame2 OR7E43P 4p16.1 olfactory receptor, family 7, subfamily E, member 43 pseudogene OTOP1 4p16.2 otopetrin 1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 splicing 3970 80 737 - 2014 24379415
utilizes an in-frame alternate splice site in the coding region
15 splicing 4063 - 768 - 2014 24379415
introducing 31bp between codons 471-472
16 splicing 4004 - 631 - 2014 24379415
contains an early stop codon and shorter C-terminus
16 splicing 4097 - 662 - 2014 24379415
contains an early stop codon and shorter C-terminus
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immunethymus   highly
Reproductivefemale systemovary  highly
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticerthrocyte
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal globular protease-resistent domain
  • a potential protein kinase C phosphorylation site
  • a calmodulin binding site
  • a C terminus homolog to MARCKS proteins a protease-sensitive,
  • hydrophilic C-terminal region
    mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY structural protein , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus,nucleoplasm
    text
  • associates with mitotic spindles and is crucial for proper spindle assembly and mitotic progression
  • basic FUNCTION
  • regulates tubular absorption of sodium by modulating the expression levels of the sodium-potassium-ATPase in renal tubular cells
  • calmodulin binding protein
  • actin-binding proteins located at the spectrin-actin junctions, also called the junctional complex, in the erythrocyte membrane
  • can have a role in modulating the transcriptional regulating activity of RFX1
  • play an essential role in the maintenance of erythrocyte shape and membrane stability
  • forms a bridge between the erythrocyte membrane and its cytoskeleton and regulates membrane cohesion
  • roles for adducins in stabilization of epithelial junctions and regulation of junctional remodeling
  • role for ADD1 in memory
  • is an actin-binding protein that has been shown to play important roles in the stabilization of the membrane cortical cytoskeleton and cell-cell adhesions
  • protein organizing the cortical actin cytoskeleton and a target of RHOA and PRKC signaling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of the erythrocyte membrane skeleton
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction with ACE not only on blood pressure regulation but also on the progression of renal dysfunction in patients with IgA nephropathy
  • interaction with regulatory factor for X box (RFX1), a nuclear protein that down regulates the expression of several proteins in non neuronal cells
  • binds directly to p55 and glycophorin C, a transmembrane protein, and this ternary complex is believed to attach the junctional complex to the plasma membrane
  • binding to SLC2A1 (with dematin form a ternary complex that resists biochemical dissociation upon detergent extraction of the erythrocyte ghosts)
  • novel function for ADD1 in mitotic spindle assembly through its interaction with MYO10
  • regulation of desmosomal adhesion by RHOA- and PRKC-mediated ADD1 phosphorylation in keratinocytes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    induced disruption of the actin cytoskeleton, reduced intercellular adhesion of human keratinocytes, and decreased the levels of the desmosomal adhesion molecule DSG3 by reducing its membrane incorporation
    Susceptibility
  • salt sensitivity
  • susceptibility to peripheral arterial disease (PAD) and coronary heart disease (CHD)
  • susceptibility to hypertension predisposing to the development of end-stage renal disease
  • to essential hypertension
  • Variant & Polymorphism SNP
  • G460W allele was significantly associated with PAD and CHD
  • polymorphisms increasing the risk of hypertension predisposing to the development of end-stage renal disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Add1 null mice show abnormal inward curvature of the cervicothoracic spine with complete penetrance and develop severe megaesophagus