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    ADD1 adducin 1 (alpha) [ Homo sapiens ]

    Gene ID: 118, updated on 20-May-2012
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    Summary

    Official Symbol
    ADD1provided by HGNC
    Official Full Name
    adducin 1 (alpha)provided by HGNC
    Primary source
    HGNC:243
    Locus tag
    RP11-520M5.1
    See related
    Ensembl:ENSG00000087274; HPRD:00036; MIM:102680; Vega:OTTHUMG00000122080
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ADDA; MGC3339; MGC44427
    Summary
    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. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    4p16.3
    Sequence :
    Chromosome: 4; NC_000004.11 (2845584..2931789)
    See ADD1 in Epigenomics, MapViewer

    Chromosome 4 - NC_000004.11Genomic Context describing neighboring genes Neighboring gene TNFAIP3 interacting protein 2 Neighboring gene SH3-domain binding protein 2 Neighboring gene NOP14 antisense RNA 1 (non-protein coding) Neighboring gene major facilitator superfamily domain containing 10 Neighboring gene NOP14 nucleolar protein homolog (yeast)

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Enterohaemorrhagic Escherichia coli requires the spectrin cytoskeleton for efficient attachment and pedestal formation on host cells. Ruetz TJ, et al. Microb Pathog, 2012 Mar. PMID 22197999.
    2. [Polymorphism Gly460Trp of alpha-adducin gene and predisposition to essential hypertension. The role of gene-environment interactions in the development of the disease in Russian population]. Polonikov AV, et al. Kardiologiia, 2011. PMID 22117679.
    3. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    4. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206.
    5. α-Adducin translocates to the nucleus upon loss of cell-cell adhesions. Chen CL, et al. Traffic, 2011 Oct. PMID 21736685.

    See all (174) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Further studies involving siRNA-mediated knockdowns of spectrin, adducin, or p4.1 revealed that those proteins are needed for efficient docking of enterohaemorrhagic Escherichia coli to host cells.
      Title: Enterohaemorrhagic Escherichia coli requires the spectrin cytoskeleton for efficient attachment and pedestal formation on host cells.
    2. the mechanism for alpha-adducin to shuttle between the cytoplasm and nucleus; a potential role for alpha-adducin in mitosis.
      Title: α-Adducin translocates to the nucleus upon loss of cell-cell adhesions.
    3. In the studied Russian population G460W polymorphism of ADD1 gene can be considered as predisposition gene to hypertension, but its pathological effect is manifested solely under influence of environmental factors.
      Title: [Polymorphism Gly460Trp of alpha-adducin gene and predisposition to essential hypertension. The role of gene-environment interactions in the development of the disease in Russian population].
    4. Null association of alpha-adducin G460T and GNB3 C825T polymorphisms with hypertension in Chinese, but local marginal significance of C825T, as a putative salt-sensitive switch, in southern Chinese.
      Title: Association of α-adducin and G-protein β3 genetic polymorphisms with hypertension: a meta-analysis of Chinese populations.
    5. this meta-analysis suggests that the Gly460Trp polymorphism might increase the risk of hypertension in Chinese populations, especially in Han Chinese.
      Title: α-adducin Gly460Trp polymorphism and essential hypertension risk in Chinese: a meta-analysis.
    6. ADD1 variant genotypes were not associated with increased risk but in association with ACE DD genotype resulted in significantly higher risk of PSICH. ACE and ADD1 variant genotypes were associated with nonlobar hematoma.
      Title: Angiotensin-converting enzyme (rs4646994) and α ADDUCIN (rs4961) gene polymorphisms' study in primary spontaneous intracerebral hemorrhage.
    7. These findings suggest novel roles for adducins in stabilization of epithelial junctions and regulation of junctional remodeling.
      Title: Adducins regulate remodeling of apical junctions in human epithelial cells.
    8. Genetic variration in alpha adducion alter renal function and/or vasoreactivity are logical candidates to explain some of the individual variability in the blood pressure response to exercise.
      Title: The influence of α-adducin gene polymorphism on response of blood pressure to exercise in patients with hypertension.
    9. Alpha-adducin Gly460Trp polymorphism is associated with hypertension.
      Title: Alpha-adducin Gly460Trp polymorphism and hypertension risk: a meta-analysis of 22 studies including 14303 cases and 15961 controls.
    10. Although the effect of both genetic variants on CIMT was small, this study showed a statistically significant effect of AGTR1 and ADD1 in women
      Title: Sex-specific effect of the alpha-adducin (G460W) and AGTR1 (A1166C) polymorphism on carotid intima-media thickness.
    Submit: New GeneRIF Correction See all (84)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Hypertension, essential, salt-sensitive

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P35611 P35612 ADD2    HPRD  PubMed  
    P35611 P05023 ATP1A1    HPRD  PubMed  
    P35611 Calmodulin 1 CALM1    HPRD  PubMed  
    P35611 P42574 CASP3    HPRD  PubMed  
    P35611 Q92598 HSPH1    HPRD  PubMed  
    P35611 Q02363 ID2    HPRD  PubMed  
    P35611 Q02535 ID3    HPRD  PubMed  
    P35611 P17612 PRKACA    HPRD  PubMed  
    P35611 Q05655 PRKCD    HPRD  PubMed  
    P35611 P22670 RFX1    HPRD  PubMed  
    P35611 Q13464 ROCK1    HPRD  PubMed  
    P35611 P02549 SPTA1    HPRD  PubMed  
    P35611 P11277 SPTB    HPRD  PubMed  
    BioGRID:106631 BioGRID:107252 CALM1    BioGRID  PubMed Phenotypic Suppression 
    BioGRID:106631 BioGRID:107843 CSNK2B    BioGRID  PubMed Two-hybrid 
    BioGRID:106631 BioGRID:122869 GEMIN7    BioGRID  PubMed Two-hybrid 
    BioGRID:106631 BioGRID:109315 HDAC1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106631 BioGRID:116022 HSPH1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106631 BioGRID:109624 ID2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106631 BioGRID:109625 ID3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106631 BioGRID:123565 MAP1LC3B    BioGRID  PubMed Two-hybrid 
    BioGRID:106631 BioGRID:117439 SIN3A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106631 BioGRID:112479 SMARCA2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106631 BioGRID:112481 SMARCA4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106631 BioGRID:112483 SMARCC1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106631 BioGRID:112586 SPTA1    BioGRID  PubMed Co-fractionation 
    BioGRID:106631 BioGRID:112587 SPTAN1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106631 BioGRID:112588 SPTB    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106631 BioGRID:112938 TK1    BioGRID  PubMed Two-hybrid 
    BioGRID:106631 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Activation of Chaperone Genes by XBP1(S), organism-specific biosystem (from REACTOME)
      Activation of Chaperone Genes by XBP1(S), organism-specific biosystemXbp-1 (S) binds the sequence CCACG in ER Stress Responsive Elements (ERSE, consensus sequence CCAAT (N)9 CCACG) located upstream from many genes. The ubiquitous transcription factor NF-Y, a heterotri...
    • Activation of Chaperones by IRE1alpha, organism-specific biosystem (from REACTOME)
      Activation of Chaperones by IRE1alpha, organism-specific biosystemIRE1-alpha is a single-pass transmembrane protein that resides in the endoplasmic reticulum (ER) membrane. The C-terminus of IRE1-alpha is located in the cytosol; the N-terminus is located in the ER ...
    • Apoptosis, organism-specific biosystem (from REACTOME)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
      Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
    • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
      Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
    • Caspase-mediated cleavage of cytoskeletal proteins, organism-specific biosystem (from REACTOME)
      Caspase-mediated cleavage of cytoskeletal proteins, organism-specific biosystemCaspase-mediated cleavage of a number of proteins in the cortical actin network ( ) microfilament system and others involved in maintenance of the cytoskeletal architecture (vimentin, or Gas2 and ...
    • Diabetes pathways, organism-specific biosystem (from REACTOME)
      Diabetes pathways, organism-specific biosystemThis module groups several normal processes that have key roles in the synthesis and function of insulin, insulin-like growth factors and ghrelin, and whose derangement is thus central to the pathoge...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Unfolded Protein Response, organism-specific biosystem (from REACTOME)
      Unfolded Protein Response, organism-specific biosystemThe Unfolded Protein Response (UPR) is a regulatory system that protects the Endoplasmic Reticulum (ER) from overload. The UPR is provoked by the accumulation of improperly folded protein in the ER d...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    actin filament binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    spectrin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    actin cytoskeleton organization IC
    Inferred by Curator
    more info
    		 PubMed 
    actin filament bundle assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    activation of signaling protein activity involved in unfolded protein response TAS
    Traceable Author Statement
    more info
    		  
    apoptotic process TAS
    Traceable Author Statement
    more info
    		  
    barbed-end actin filament capping IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cellular component disassembly involved in apoptosis TAS
    Traceable Author Statement
    more info
    		  
    endoplasmic reticulum unfolded protein response TAS
    Traceable Author Statement
    more info
    		  
    positive regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    F-actin capping protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    alpha-adducin
    Names
    alpha-adducin
    erythrocyte adducin alpha subunit
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012037.1 RefSeqGene

      Range
      5001..91220
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001119.4 → NP_001110.2  alpha-adducin isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) utilizes an in-frame alternate splice site in the coding region, compared to variant 2. This results in a shorter protein (isoform a), compared to isoform b.
      Source sequence(s)
      BI460192, BU729599, CR995783, CX783962, X58141
      Consensus CDS
      CCDS43205.1
      UniProtKB/Swiss-Prot
      P35611
      Related
      ENSP00000399828, ENST00000446856
      Conserved Domains (1) summary
      cd00398
      Location:142 – 352
      Blast Score: 519
      Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...

    2. NM_014189.3 → NP_054908.2  alpha-adducin isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (b).
      Source sequence(s)
      BI460192, BU729599, CA391117, CR995783, CX783962, X58141
      Consensus CDS
      CCDS3363.1
      UniProtKB/Swiss-Prot
      P35611
      Related
      ENSP00000264758, ENST00000264758
      Conserved Domains (1) summary
      cd00398
      Location:142 – 352
      Blast Score: 517
      Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...

    3. NM_014190.3 → NP_054909.2  alpha-adducin isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an additional exon in the 3' coding region, which results in a frameshift, compared to variant 2. The encoded protein (isoform c) contains an early stop codon and shorter C-terminus, compared to isoform b.
      Source sequence(s)
      BC042998, BI460192, BU729599, CR995783, X58141
      UniProtKB/Swiss-Prot
      P35611
      UniProtKB/TrEMBL
      Q86XM2
      Related
      ENSP00000421907, OTTHUMP00000218665, ENST00000513328, OTTHUMT00000361591
      Conserved Domains (1) summary
      cd00398
      Location:142 – 352
      Blast Score: 518
      Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...

    4. NM_176801.2 → NP_789771.1  alpha-adducin isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) utilizes an alternate splice site and includes an additional exon in the coding region, which results in a frameshift, compared to variant 2. The encoded protein (isoform d) contains an early stop codon and shorter C-terminus, compared to isoform b.
      Source sequence(s)
      BC042998, BI460192, BU729599, CA391117, CR995783, X58141
      Consensus CDS
      CCDS3364.1
      UniProtKB/TrEMBL
      A2A3N8
      UniProtKB/Swiss-Prot
      P35611
      UniProtKB/TrEMBL
      Q86XM2
      Related
      ENSP00000381193, ENST00000398125
      Conserved Domains (1) summary
      cd00398
      Location:142 – 352
      Blast Score: 516
      Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000004.11 Reference GRCh37.p5 Primary Assembly

      Range
      2845584..2931789
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000136.1 Alternate HuRef

      Range
      2784038..2870192
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL121750.22 CAM28230.1
      CAM28231.1
      CAM28232.1
    genomic AL121750.22 CAM28230.1
      CAM28231.1
      CAM28232.1
    genomic AL390065.20 CAM21297.1
      CAM21298.1
      CAM21299.1
    genomic BX465861.7 CAM25273.1
      CAM25274.1
      CAM25275.1
    genomic BX465861.7 CAM25273.1
      CAM25274.1
      CAM25275.1
    genomic CH471131.2 EAW82498.1
      EAW82499.1
      EAW82500.1
      EAW82501.1
      EAW82502.1
      EAW82503.1
      EAW82504.1
      EAW82505.1
    genomic L29296.1 AAB05645.1
    genomic Z68280.1 CAI95603.1
    genomic Z74617.1 CAA98970.1
    mRNA AK025413.1 None
    mRNA AK295457.1 BAG58391.1
    mRNA AK298523.1 BAG60726.1
    mRNA AK309186.1 None
    mRNA BC013393.2 AAH13393.1
    mRNA BC042998.1 AAH42998.1
    mRNA BI460192.1 None
    mRNA BU729599.1 None
    mRNA CA391117.1 None
    mRNA CR936693.1 None
    mRNA CR995783.1 None
    mRNA CX783962.1 None
    mRNA D44632.1 None
    mRNA L07261.1 None
    mRNA S70310.1 None
    mRNA S70312.1 AAB30913.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35611.2 GenPept UniProtKB/Swiss-Prot:P35611
    Q16155 GenPept UniProtKB/TrEMBL:Q16155
    Q4TT76 GenPept UniProtKB/TrEMBL:Q4TT76
    Q86XM2 GenPept UniProtKB/TrEMBL:Q86XM2
    Q96D30 GenPept UniProtKB/TrEMBL:Q96D30
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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