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ADD1 Gene

protein-coding   GIFtS: 66
GCID: GC04P002849

Adducin 1 (Alpha)

  See ADD1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Adducin 1 (Alpha)1 2
ADDA2 3
alpha-adducin2
Erythrocyte Adducin Alpha Subunit2
Erythrocyte Adducin Subunit Alpha3

External Ids:    HGNC: 2431   Entrez Gene: 1182   Ensembl: ENSG000000872747   OMIM: 1026805   UniProtKB: P356113   

Export aliases for ADD1 gene to outside databases

Previous GC identifers: GC04P002834 GC04P002876 GC04P002882


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ADD1 Gene:
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)

GeneCards Summary for ADD1 Gene:
ADD1 (adducin 1 (alpha)) is a protein-coding gene. Diseases associated with ADD1 include hypertension, essential, salt-sensitive, and dehydrated hereditary stomatocytosis. GO annotations related to this gene include actin binding and protein homodimerization activity. An important paralog of this gene is ADD2.

UniProtKB/Swiss-Prot: ADDA_HUMAN, P35611
Function: Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds
to calmodulin

Gene Wiki entry for ADD1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_006051.19  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ADD1 gene promoter:
         SREBP-1a   SREBP-1c   SREBP-1b   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ADD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p16.3   Ensembl cytogenetic band:  4p16.3   HGNC cytogenetic band: 4p16.3

ADD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADD1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P002849:  view genomic region     (about GC identifiers)

Start:
2,845,584 bp from pter      End:
2,931,803 bp from pter
Size:
86,220 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ADDA_HUMAN, P35611 (See protein sequence)
Recommended Name: Alpha-adducin  
Size: 737 amino acids; 80955 Da
Subunit: Heterodimer of an alpha and a beta subunit or an alpha and a gamma subunit
Sequence caution: Sequence=CAA98970.1; Type=Erroneous gene model prediction;
Secondary accessions: A2A3P0 D3DVR3 D3DVR4 D3DVR5 Q13734 Q14729 Q16156 Q9UJB6
Alternative splicing: 3 isoforms:  P35611-1   P35611-2   P35611-3   

Explore the universe of human proteins at neXtProt for ADD1: NX_P35611

Explore proteomics data for ADD1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ADD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001110.2  NP_001273574.1  NP_054908.2  NP_054909.2  NP_789771.1  

    ENSEMBL proteins: 
     ENSP00000425703   ENSP00000421918   ENSP00000421907   ENSP00000426700   ENSP00000423024  
     ENSP00000348100   ENSP00000381191   ENSP00000381197   ENSP00000424143   ENSP00000438069  
     ENSP00000441388   ENSP00000264758   ENSP00000399828   ENSP00000381193  
    Reactome Protein details: P35611

    ADD1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ADD1
    OriGene Protein Over-expression Lysate for ADD1
    OriGene MassSpec for ADD1
    OriGene Custom Protein Services for ADD1
    GenScript Custom Purified and Recombinant Proteins Services for ADD1
    Novus Biologicals ADD1 Protein
    Novus Biologicals ADD1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ADD1

     
    Search eBioscience for Proteins for ADD1 

    ADD1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ADD1
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ADD1
    OriGene Custom Antibody Services for ADD1
    Novus Biologicals ADD1 Antibodies
    Abcam antibodies for ADD1 (Q9UEY8, P35611)
    Cloud-Clone Corp. Antibodies for ADD1
    ThermoFisher Antibody for ADD1
    LSBio Antibodies in human, mouse, rat for ADD1

    ADD1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ADD1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ADD1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ADD1
    Cloud-Clone Corp. CLIAs for ADD1
    Search eBioscience for ELISAs for ADD1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR001303 Aldolase_II/adducin_N
     IPR027766 ADD1

    Graphical View of Domain Structure for InterPro Entry P35611

    ProtoNet protein and cluster: P35611

    1 Blocks protein domain: IPB001303 Class II aldolase/adducin

    UniProtKB/Swiss-Prot: ADDA_HUMAN, P35611
    Domain: Each subunit is comprised of three regions: a NH2-terminal protease-resistant globular head region, a
    short connecting subdomain, and a protease-sensitive tail region
    Similarity: Belongs to the aldolase class II family. Adducin subfamily


    Find genes that share domains with ADD1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ADDA_HUMAN, P35611
    Function: Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds
    to calmodulin

         Genatlas biochemistry entry for ADD1:
    adducin alpha,actin accessory protein,calmodulin binding protein,80kDa,component of the erythrocyte membrane
    skeleton,with an alternatively spliced isoform (70kDa)

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding TAS1840603
    GO:0005198structural molecule activity IEA--
    GO:0005515protein binding ----
    GO:0005516calmodulin binding IEA--
    GO:0008134transcription factor binding IPI16289097
         
    Find genes that share ontologies with ADD1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for ADD1:
     Decreased cell number  Decreased focal adhesion (FA)   Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Add1):
     growth/size/body  hematopoietic system  homeostasis/metabolism  mortality/aging  nervous system 

    Find genes that share phenotypes with ADD1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Add1tm1Llp for ADD1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ADD1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ADD1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ADD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ADD1

    miRNA
    Products:
        
    miRTarBase miRNAs that target ADD1:
    hsa-mir-221-3p (MIRT046898), hsa-mir-24-3p (MIRT030434)

    Block miRNA regulation of human, mouse, rat ADD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ADD1 (see all 24):
    hsa-miR-4317 hsa-miR-448 hsa-miR-520d-5p hsa-miR-885-5p hsa-miR-103a hsa-miR-374c hsa-miR-3622b-3p hsa-miR-33b
    SwitchGear 3'UTR luciferase reporter plasmidADD1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ADD1
    Predesigned siRNA for gene silencing in human, mouse, rat ADD1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ADD1

    Clone
    Products:
         
    OriGene clones in human, mouse for ADD1 (see all 26)
    OriGene ORF clones in mouse, rat for ADD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): ADD1 (NM_001119)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ADD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADD1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ADD1
    Browse ESI BIO Cell Lines and PureStem Progenitors for ADD1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADD1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ADDA_HUMAN, P35611: Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    cytosol4
    nucleus4
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton ----
    GO:0005886plasma membrane IDA--

    Find genes that share ontologies with ADD1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ADD1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    2Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.74
    Caspase-mediated cleavage of cytoskeletal proteins0.00
    Apoptotic execution phase0.74
    3Unfolded Protein Response
    Unfolded Protein Response0.61
    Activation of Chaperone Genes by XBP1(S)0.59
    Activation of Chaperones by IRE1alpha0.61
    4G protein signaling G Protein alpha i signaling cascades
    G protein signaling G Protein alpha s signaling cascades0.44
    5Regulation of Water Balance by Renal Aquaporins
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation0.40


    Find genes that share SuperPaths with ADD1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ADD1
        Activation of PKA through GPCR
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA

    2 GeneGo (Thomson Reuters) Pathways for ADD1
        G-protein signaling G-Protein alpha-s signaling cascades
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation

    2 Reactome Pathways for ADD1
        XBP1(S) activates chaperone genes
    Caspase-mediated cleavage of cytoskeletal proteins

    1 PharmGKB Pathway for ADD1
        Diuretics Pathway, Pharmacodynamics

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ADD1
    Interactions:

        GeneGlobe Interaction Network for ADD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ADD1 (P356112, 3 ENSP000002647584) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK2BP678702, 3MINT-8252989 I2D: score=2 
    ENSG00000206406P678702, 3MINT-8252989 I2D: score=2 
    ENSG00000224398P678702, 3MINT-8252989 I2D: score=2 
    ENSG00000224774P678702, 3MINT-8252989 I2D: score=2 
    ENSG00000228875P678702, 3MINT-8252989 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000902cell morphogenesis IEA--
    GO:0001701in utero embryonic development IEA--
    GO:0006884cell volume homeostasis IEA--
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--

    Find genes that share ontologies with ADD1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ADD1 (ADDA)

    Selected Novoseek inferred chemical compound relationships for ADD1 gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nppa 74.3 2 15699455 (1), 17051589 (1)
    sodium 66.3 41 18591455 (4), 19657284 (3), 9149697 (2), 9607177 (1) (see all 25)
    thiazide 64.9 4 19057513 (1), 14553962 (1), 16450155 (1)
    hydrochlorothiazide 60.5 8 19057513 (2), 16450155 (2), 16266470 (1), 14553962 (1) (see all 5)
    it 15 60 1 8946164 (1)
    sterol 42.3 6 15694704 (1), 19962449 (1), 9712704 (1), 9054427 (1) (see all 5)
    glycerol 3-phosphate 34.9 1 9054427 (1)
    fatty acid 21.3 3 8654925 (1), 8336713 (1)
    ouabain 20 3 18398333 (2), 16207152 (1)
    potassium 17.5 1 16207152 (1)

    6 PharmGKB related drug/compound annotations for ADD1 gene    About this table
    Drug/compound PharmGKB Annotation
    bumetanideCA  
    diureticsCA  
    furosemideCA  
    hydrochlorothiazideCA  
    spironolactoneCA  
    torasemideCA  



    Find genes that share compounds with ADD1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ADD1 gene (5 alternative transcripts): 
    NM_001119.4  NM_001286645.1  NM_014189.3  NM_014190.3  NM_176801.2  

    Unigene Cluster for ADD1:

    Adducin 1 (alpha)
    Hs.183706  [show with all ESTs]
    Unigene Representative Sequence: BC042998
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 28):
    ENST00000508684(uc010ico.1) ENST00000510101 ENST00000511797 ENST00000539108
    ENST00000513328 ENST00000509039 ENST00000508277 ENST00000503455 ENST00000540541
    ENST00000355842(uc003gfs.3) ENST00000374281 ENST00000503169(uc003gft.3)
    ENST00000398123 ENST00000398129 ENST00000534870 ENST00000506157(uc003gfu.3)
    ENST00000514940 ENST00000536078
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ADD1 (see all 24):
    hsa-miR-4317 hsa-miR-448 hsa-miR-520d-5p hsa-miR-885-5p hsa-miR-103a hsa-miR-374c hsa-miR-3622b-3p hsa-miR-33b
    SwitchGear 3'UTR luciferase reporter plasmidADD1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ADD1
    Predesigned siRNA for gene silencing in human, mouse, rat ADD1
    Clone
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    OriGene clones in human, mouse for ADD1 (see all 26)
    OriGene ORF clones in mouse, rat for ADD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): ADD1 (NM_001119)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ADD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADD1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ADD1
    OriGene qSTAR qPCR primer pairs in human, mouse for ADD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ADD1
      QuantiTect SYBR Green Assays in human, mouse, rat ADD1
      QuantiFast Probe-based Assays in human, mouse, rat ADD1

    Additional mRNA sequence: 

    AH004561.2 AK025413.1 AK295457.1 AK298523.1 BC042998.1 L07261.1 S70312.1 

    Selected DOTS entries (see all 37):

    DT.100773268  DT.95272604  DT.92335309  DT.92448905  DT.100820718  DT.220075  DT.100820725  DT.87017746 
    DT.100820715  DT.450501  DT.96085301  DT.95272586  DT.87017747  DT.121237677  DT.308265  DT.447133 
    DT.95272603  DT.121237716  DT.95272582  DT.100820713  DT.100820720  DT.121237746  DT.100820714  DT.91858078 

    Selected AceView cDNA sequences (see all 492):

    BM845011 BQ943239 BQ636528 BE898639 D44640 NM_014189 AW300674 AW838217 
    BQ959356 NM_176801 BX115289 AI634567 CA396829 AA293800 AI655344 BF939926 
    CA310144 H50652 BX445880 AI245384 CA390585 BQ941097 AL520566 BU743208 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ADD1 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c · 12d ^ 13a · 13b · 13c ^
    SP1:                          -                                                                                   -     -           -     -     -               
    SP2:                                                                                                              -     -           -     -     -               
    SP3:                                                                                                              -     -                 -     -               
    SP4:                                                                                                              -     -                                       
    SP5:                    -     -     -                                                                                                                           

    ExUns: 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b
    SP1:                          -                     
    SP2:        -                 -     -               
    SP3:        -                 -                     
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for ADD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ADD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTACTCAC
    ADD1 Expression
    About this image


    ADD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
    ADD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.183706

    UniProtKB/Swiss-Prot: ADDA_HUMAN, P35611
    Tissue specificity: Expressed in all tissues. Found in much higher levels in reticulocytes than the beta subunit

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ADD1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Add11 , 5 adducin 1 (alpha)1, 5 88.57(n)1
    92.93(a)1
      5 (17.90 cM)5
    115181  NM_001024458.31  NP_001019629.21 
     345736645 
    chicken
    (Gallus gallus)
    Aves ADD11 adducin 1 (alpha) 81.77(n)
    88.07(a)
      422882  NM_001079730.1  NP_001073198.1 
    lizard
    (Anolis carolinensis)
    Reptilia ADD16
    adducin 1 (alpha)
    84(a)
    1 ↔ 1
    5(80260757-80297267)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC049827.12   -- 77.96(n)    BC049827.1 
    zebrafish
    (Danio rerio)
    Actinopterygii add12 adducin 1 (alpha) 76.8(n)   378715  CD754254.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta hts1 , 3 ring canal formation, actin assembly
    actin binding3
    hu li tai shao1
    38(a)3
    49.32(n)1
    42.79(a)1
      56D33
    372301  NM_001202048.21  NP_001188977.21 
    worm
    (Caenorhabditis elegans)
    Secernentea add-23
    add-11
    adducin3
    add-11
    50(a)3
    50.12(n)1
    42.7(a)1
      V(12012251-12016002)3
    1807601  NM_001029472.21  NP_001024643.11 


    ENSEMBL Gene Tree for ADD1 (if available)
    TreeFam Gene Tree for ADD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ADD1 gene
    ADD22  ADD32  
    3 SIMAP similar genes for ADD1 using alignment to 12 protein entries:     ADDA_HUMAN (see all proteins):
    ADDA    ADD3    ADD2

    Find genes that share paralogs with ADD1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ADD1
    PGOHUM00000250692


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ADD1 (see all 2024)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs49611,2,,4
    C,F,O,A,Hother12886972(+) AGGAAG/TGGCAG 8 G W mis135Minor allele frequency- T:0.18MN CSA EA NA NS WA EU 21035
    rs49601,2
    C,F--2784132(+) GAGCCG/AGAGCC 4 -- ut51 ese32Minor allele frequency- A:0.04MN 127
    rs125047991,2
    C,A,H--2792400(+) tctttT/Cctttc 4 -- int1 trp32Minor allele frequency- C:0.25NA 4
    rs2020991331,2
    --2792738(+) TTCAG-/TTTTTT 4 -- int10--------
    rs2004371061,2
    C--2792863(+) GGTGT-/TTCTCTGT 4 -- int10--------
    rs2018429571,2
    C--2792864(+) TGTTT-/GATCTGT 4 -- int10--------
    rs673740651,2
    C--2792865(+) GTTTT-/CTGTAC 4 -- int10--------
    rs3702404811,2
    C--2792872(+) TACTG-/AGTGTTTGAT
    TGT
    /TTTGATTGT
    TTTGT
    8 -- int1 cds10--------
    rs2010465041,2
    C--2812587(+) ATCCA-/TACTT 
            
    TAATC
    4 -- int10--------
    rs345017621,2
    C--2814465(+) TTCCA-/CTGAGGT 4 -- int10--------

    HapMap Linkage Disequilibrium report for ADD1 (2845584 - 2931803 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ADD1 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1007958CNV Deletion20482838
    esv2726864CNV Deletion23290073
    esv2726835CNV Deletion23290073
    nsv461162CNV Loss19166990
    nsv878444CNV Loss21882294
    nsv526059CNV Loss19592680
    nsv878451CNV Loss21882294
    dgv5426n71CNV Loss21882294
    dgv5427n71CNV Loss21882294
    nsv461163CNV Gain19166990

    Human Gene Mutation Database (HGMD): ADD1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ADD1
    DNA2.0 Custom Variant and Variant Library Synthesis for ADD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 102680   
    OMIM disorders: 145500  
    6 diseases for ADD1:    
    About MalaCards
    hypertension, essential, salt-sensitive    dehydrated hereditary stomatocytosis    gastroschisis    endolymphatic hydrops
    low renin hypertension    essential hypertension

    1 disease from the University of Copenhagen DISEASES database for ADD1:
    Hypertension

    Find genes that share disorders with ADD1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ADD1 gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    essential hypertension 80.2 49 9149697 (3), 11110979 (2), 15608390 (2), 16970091 (2) (see all 26)
    hyperlipidemia familial combined 45.4 1 11775124 (1)
    genetic susceptibility 41.2 2 9495254 (1), 20145305 (1)
    nephropathy iga 35.7 4 12885793 (2), 19838659 (1)
    huntington disease 32.3 2 7959767 (1), 8353488 (1)
    adpkd 22.5 2 12697976 (1), 13679477 (1)
    stroke 9.97 7 11283377 (2), 15359068 (1), 11926892 (1), 17189961 (1) (see all 6)
    myocardial infarction 8.87 4 10723114 (2), 18458162 (1), 17189961 (1)
    renal disease 6.81 4 11143997 (2), 11918733 (1)
    coronary heart disease 5.42 2 18458162 (1), 15699449 (1)

    Genatlas disease: ADD1
    salt sensitivity in patients with essential hypertension,associated with ADD1 polymorphism (G460W)

    Genetic Association Database (GAD): ADD1
    Human Genome Epidemiology (HuGE) Navigator: ADD1 (138 documents)

    Export disorders for ADD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ADD1 gene, integrated from 10 sources (see all 285):
    (articles sorted by number of sources associating them with ADD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure and domain organization of human alpha and beta adducin. (PubMed id 1840603)1, 2, 3 Joshi R.L.... Bennett V.D. (J. Cell Biol. 1991)
    2. The 460Trp allele of alpha-adducin increases carotid intima-media thickness in young adult males. (PubMed id 16531798)1, 4, 9 Sarzani R....Rappelli A. (J. Hypertens. 2006)
    3. Physiological interaction between alpha-adducin and WNK1-NEDD4L pathways on sodium-related blood pressure regulation. (PubMed id 18591455)1, 4, 9 Manunta P....Samani N.J. (Hypertension 2008)
    4. Interaction between ACE and ADD1 gene polymorphisms in the progression of IgA nephropathy in Japanese patients. (PubMed id 12885793)1, 4, 9 Narita I....Gejyo F. (Hypertension 2003)
    5. Arterial properties in relation to genetic variation in alpha-adducin and the renin-angiotensin system in a White population. (PubMed id 18800139)1, 4, 9 SeidlerovA! J....Filipovsk Ygrave J. (J Hum Hypertens 2009)
    6. [Relationship between the polymorphism of alpha-adducin gene and the two phenotypes of constitutions in patients with essential hypertension classified by TCM]. (PubMed id 16970091)1, 4, 9 Qian Y.S....Zhang W.Z. (Zhongguo Zhong Xi Yi Jie He Za Zhi 2006)
    7. Role of the adducin family genes in human essential hypertension. (PubMed id 15716695)1, 4, 9 Lanzani C....Manunta P. (J. Hypertens. 2005)
    8. alpha-Adducin Gly460Trp polymorphism is associated with low renin hypertension in younger subjects in the Ohasama study. (PubMed id 12195119)1, 4, 9 Sugimoto K....Ogihara T. (J. Hypertens. 2002)
    9. [Association of alpha-adducin gene and G-protein beta3-subunit gene with essential hypertension in Chinese]. (PubMed id 17825147)1, 4, 9 Huang X.H....Hui R.T. (Zhonghua Yi Xue Za Zhi 2007)
    10. Gly460Trp alpha-adducin gene polymorphism and endothelial function in untreated hypertensive patients. (PubMed id 17921817)1, 4, 9 Perticone F....Cusi D. (J. Hypertens. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 118 HGNC: 243 AceView: ADD1 Ensembl:ENSG00000087274 euGenes: HUgn118
    ECgene: ADD1 H-InvDB: ADD1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ADD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ADD1 gene:
    Search GeneIP for patents involving ADD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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