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ADD3 (adducin 3)

Written2005-03José Luis Vizmanos
Departamento de Genética, Facultad de Ciencias, Universidad de Navarra, 31008 Pamplona, Navarra, Espana

(Note : for Links provided by Atlas : click)

Identity

Other aliasADDL
Adducin-like
adducin 3 (gamma)
gamma adducin (adducin-like protein 70)
LocusID (NCBI) 120
Atlas_Id 520
Location 10q25.1  [Link to chromosome band 10q25]
Location_base_pair Starts at and ends at bp from pter
Local_order MXI1 (MAX-interacting protein 1) is more telomeric. XPNPEP1 (X-prolylaminopeptidase 1) is more telomeric.
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ADD3 (10q25.1) / MYT1L (2p25.3)ADD3 (10q25.1) / NUP98 (11p15.4)ADD3 (10q25.1) / OGT (Xq13.1)
ADD3 (10q25.1) / SYNPO2 (4q26)ADD3 (10q25.1) / XPNPEP1 (10q25.1)AMOTL2 (3q22.2) / ADD3 (10q25.1)
C1orf61 (1q22) / ADD3 (10q25.1)CLU (8p21.1) / ADD3 (10q25.1)FTL (19q13.33) / ADD3 (10q25.1)
NUP98 (11p15.4) / ADD3 (10q25.1)SCN2A (2q24.3) / ADD3 (10q25.1)

DNA/RNA

 
  Genomic structure of ADD3. Black boxes indicate exons.
Description 15 exons spanning 129.52 Kb on 10q25.1-10q25.2. Transcription is from centromere to telomere.
Transcription 2 alternative transcripts :
  • Variant 1 includes an in-frame alternate coding exon and encodes a longer protein isoform (isoform a) compared to transcript variant 2.
  • Variant 2 lacks an in-frame alternate coding exon and exon 13 and encodes a shorter protein (isoform b) compared to transcript variant 1.
    3 alternative transcripts corresponding to variant 1 and 2.
  • Protein

    Note adducin 3 (adducin-like)
     
      Schematic representation of ADD3. AldolaseII-N: domain belonging to aldolase class I family, adducin subfamily N-terminal, Coils: coiled-coil domain, Bipartite NLS: Bipartite nuclear localization signal.
    Description is membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network and binds to calmodulin.
    Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known.
    Expression Ubiquitous. Heart only expresses isoform 1 or a.
    Localisation Membrane skeleton.
    Function Adducins are membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. Adducin is a heterodimeric cytoskeleton protein and consists of an [alpha]-subunit (Mr 103 kDa) and either a [beta]- (Mr 97 kDa) or [gamma]-subunit (Mr 90kDa). Three genes (ADD1, ADD2, and ADD3, respectively) that map to different chromosomes encode these subunits. Adducin promotes the organization of the spectrin-actin lattice by favoring the spectrin-actin binding and controlling the rate of actin polymerization as an end-capping actin protein. Its function is calcium- and calmodulin-dependent. It is phosphorylated by protein kinases A and C, tyrosine, and [rho]-kinases.10 It is a member of the myristoylated alanine-rich C kinase substrate protein family, which is involved in signal transduction, cell-to-cell contact formation, and cell migration. Non-silent polymorphisms resulting in subunits alpha and beta have been associated with the regulation of blood pressure in an animal model of hypertension.
    Homology It presents homology in various species. It also belongs to ADDUCIN protein family (3 members ADD1, ADD2 and ADD3).

    Mutations

    Germinal It has been shown that the interaction of ADD1 and ADD3 gene variants in humans is statistically associated with variation in blood pressure, suggesting the presence of epistatic effects among these loci.
    Somatic t(10;11)(q25;p15) 5' NUP98-ADD3 3' fusion in a T-cell acute lymphoblastic leukemia with biphenotipic characteristics (T/myeloid).

    Implicated in

    Note
      
    Entity t(10;11)(q25;p15)
    Disease T-cell acute lymphoblastic leukemia with biphenotipic characteristics (T/myeloid)
    Prognosis bad
    Cytogenetics t(10;11)(q25;p15) (cryptic)
    Hybrid/Mutated Gene 5' NUP98-ADD3 3'
    Abnormal Protein NUP98-ADD3
     
    Schematic representation of the fusion NUP98-ADD3 consecuence of the t(10;11)(q25;p15) in a T-cell acute lymphoblastic leukemia with biphenotipic characteristics. From up to down: ADD3, NUP98 and the putative chimeric NUP98-ADD3 structure. FG-repeats, phenilalanine-glycine repeats; bipartite NLS, bipartite nuclear localization signal. Coiled coil domains on ADD3 and NUP98-ADD3 are indicated with asterisks.
      

    Bibliography

    Adducin polymorphism: detection and impact on hypertension and related disorders.
    Bianchi G, Ferrari P, Staessen JA
    Hypertension. 2005 ; 45 (3) : 331-340.
    PMID 15699449
     
    Genomic organization of the human gamma adducin gene.
    Citterio L, Azzani T, Duga S, Bianchi G
    Biochemical and biophysical research communications. 1999 ; 266 (1) : 110-114.
    PMID 10581174
     
    Cloning, expression and chromosome mapping of adducin-like 70 (ADDL), a human cDNA highly homologous to human erythrocyte adducin.
    Katagiri T, Ozaki K, Fujiwara T, Shimizu F, Kawai A, Okuno S, Suzuki M, Nakamura Y, Takahashi E, Hirai Y
    Cytogenetics and cell genetics. 1996 ; 74 (1-2) : 90-95.
    PMID 8893809
     
    A new function for adducin. Calcium/calmodulin-regulated capping of the barbed ends of actin filaments.
    Kuhlman PA, Hughes CA, Bennett V, Fowler VM
    The Journal of biological chemistry. 1996 ; 271 (14) : 7986-7991.
    PMID 8626479
     
    NUP98 is fused to adducin 3 in a patient with T-cell acute lymphoblastic leukemia and myeloid markers, with a new translocation t(10;11)(q25;p15).
    Lahortiga I, Vizmanos JL, Agirre X, Vázquez I, Cigudosa JC, Larrayoz MJ, Sala F, Gorosquieta A, Perez-Equiza K, Calasanz MJ, Odero MD
    Cancer research. 2003 ; 63 (12) : 3079-3083.
    PMID 12810632
     
    Role of the adducin family genes in human essential hypertension.
    Lanzani C, Citterio L, Jankaricova M, Sciarrone MT, Barlassina C, Fattori S, Messaggio E, Serio CD, Zagato L, Cusi D, Hamlyn JM, Stella A, Bianchi G, Manunta P
    Journal of hypertension. 2005 ; 23 (3) : 543-549.
    PMID 15716695
     
    Adducin: structure, function and regulation.
    Matsuoka Y, Li X, Bennett V
    Cellular and molecular life sciences : CMLS. 2000 ; 57 (6) : 884-895.
    PMID 10950304
     
    Hypertension-linked decrease in the expression of brain gamma-adducin.
    Yang H, Francis SC, Sellers K, DeBarros M, Sun C, Sumners C, Ferrario CM, Katovich MJ, Muro AF, Raizada MK
    Circulation research. 2002 ; 91 (7) : 633-639.
    PMID 12364392
     
    Decrease in hypothalamic gamma adducin in rat models of hypertension.
    Yang H, Reaves PY, Katovich MJ, Raizada MK
    Hypertension. 2004 ; 43 (2) : 324-328.
    PMID 14732736
     

    Citation

    This paper should be referenced as such :
    Vizmanos, JL
    ADD3 (adducin 3)
    Atlas Genet Cytogenet Oncol Haematol. 2005;9(2):129-131.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Genes/ADD3ID520ch10q25.html


    Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
      t(10;11)(q25;p15) NUP98/ADD3
    t(10;11)(q25;p15) NUP98/ADD3
    T-lineage acute lymphoblastic leukemia (T-ALL)


    Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
      t(X;10)(q13;q25) ADD3/OGT
    ADD3/XPNPEP1 (10q25)
    t(10;19)(q25;q13) FTL/ADD3


    External links

    Nomenclature
    Cards
    AtlasADD3ID520ch10q25.txt
    Aliases
    Genomic and cartography
    Gene and transcription
    RefSeq transcript (Entrez)
    RefSeq genomic (Entrez)
    SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
    BioGPS (Tissue expression)120
    Protein : pattern, domain, 3D structure
    Domain families : Pfam (Sanger)
    Domain families : Pfam (NCBI)
    Protein Interaction databases
    Ontologies - Pathways
    Clinical trials, drugs, therapy
    Miscellaneous
    canSAR (ICR) (select the gene name)
    Probes
    Litterature
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed


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    indexed on : Thu Oct 18 17:27:22 CEST 2018

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