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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ADD1 Gene

protein-coding   GIFtS: 67
GCID: GC04P002849

Adducin 1 (Alpha)

  See 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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         
NONCODE14:n339806      

Export aliases for ADD1 gene to outside databases

Previous GC identifers: GC04P002834 GC04P002876 GC04P002882


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and is affiliated with the lncRNA class. Diseases associated with ADD1 include hypertension, essential, salt-sensitive, and dehydrated hereditary stomatocytosis, and among its related super-pathways are Activation of cAMP-Dependent PKA and Activation of Chaperones by IRE1alpha. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_006051.18  NC_018915.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ADD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35611

  • ADD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ADD1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001110.2  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
    Human Recombinant Protein Products for ADD1: 
    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 

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16289097
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton ----
    GO:0005886plasma membrane IEA--
    GO:0008290F-actin capping protein complex IDA8626479

    ADD1 for ontologies           About GeneDecksing



    ADD1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of ADD1
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    GenScript Superior Antibodies for ADD1
    Novus Biologicals ADD1 Antibodies
    Abcam antibodies for ADD1
    Cloud-Clone Corp. Antibodies for ADD1 
    ThermoFisher Antibody for ADD1
    LSBio Antibodies in human, mouse, rat for ADD1 

    Assay Products for ADD1: 
    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


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR001303 Aldolase_II/adducin_N

    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


    ADD1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/11 molecular function terms (GO ID links to tree view) (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
         
    ADD1 for ontologies           About GeneDecksing


    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  hematopoietic system  homeostasis/metabolism  mortality/aging  nervous system 

    ADD1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Add1tm1Llp for ADD1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ADD1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ADD1
    8/24 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ADD1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ADD1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ADD1
    Sirion Biotech Customized adenovirus for overexpression of ADD1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ADD1 (see all 25)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of ADD1 
                         Customized lentivirus expression plasmids for stable overexpression of ADD1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ADD1
    Search LifeMap BioReagents cell lines for ADD1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADD1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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
    2Activation of Chaperone Genes by XBP1(S)
    Activation of Chaperones by IRE1alpha0.94
    Unfolded Protein Response0.76
    Activation of Chaperone Genes by XBP1(S)0.94
    3Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.73
    Caspase-mediated cleavage of cytoskeletal proteins0.32
    Apoptotic execution phase0.73
    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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for ADD1
        Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
    G-protein signaling G-Protein alpha-s signaling cascades

    4 Downloadable PowerPoint Slides of QIAGEN 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

    5/8        Reactome Pathways for ADD1 (see all 8)
        Apoptotic execution phase
    Caspase-mediated cleavage of cytoskeletal proteins
    Apoptosis
    Activation of Chaperone Genes by XBP1(S)
    Apoptotic cleavage of cellular proteins

    1 PharmGKB Pathway for ADD1
        Diuretics Pathway, Pharmacodynamics


    ADD1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ADD1

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

    5/45 Interacting proteins for ADD1 (P356112, 3 ENSP000002647584) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    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): 5/19 biological process terms (GO ID links to tree view) (see all 19):    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--

    ADD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ADD1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ADD1 (ADDA)

    10/17 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)

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

    Search CenterWatch for drugs/clinical trials and news about ADD1 / ADDA

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ADD1 gene (4 alternative transcripts): 
    NM_001119.4  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
    18/28 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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    8/24 QIAGEN miScript miRNA 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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    Clone
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    OriGene clones in human, mouse for ADD1 (see all 25)
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of ADD1 
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ADD1
      QIAGEN 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 

    24/37 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 

    24/492 AceView cDNA sequences (see all 492):

    BM972623 CB044292 BM807312 S70313 CA775881 BU166642 AA340416 BX445880 
    BQ694420 AA928279 AI497625 BF739850 AI762082 BM703052 AA293800 BU542371 
    BU161117 BU145824 CA390436 D44939 AW881182 CA435667 BF109839 CA391117 

    GeneLoc Exon Structure

    5/12 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ADD1 expression in normal human tissues (normalized intensities)      ADD1 embryonic expression: see
    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 
     5/18 selected tissues (see all 18) fully expand
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
             epididymis ; glandular cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 2 entries
             tonsil ; squamous epithelial cells   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             kidney ; cells in tubules   

    See ADD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ADD1

    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ADD1 gene from 7/17 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) 80.82(n)
    86.71(a)
      422882  NM_001079730.1  NP_001073198.1 
    lizard
    (Anolis carolinensis)
    Reptilia ADD16
    Uncharacterized protein
    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
    48.69(n)1
    41.32(a)1
      56D33
    372301  NM_001202048.21  NP_001188977.21 
    worm
    (Caenorhabditis elegans)
    Secernentea add-23
    add-11
    adducin3
    Protein ADD-11
    50(a)3
    49.13(n)1
    41.23(a)1
      V(12012251-12016002)3
    1807601  NM_001029469.11  NP_001024640.11 


    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)
    About This Section
    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

    ADD1 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2024 SNPs in ADD1 are shown (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) 10/11 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
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 102680   
    OMIM disorders: 145500  
    20/38 diseases for ADD1 (see all 38):    About MalaCards
    hypertension, essential, salt-sensitive    dehydrated hereditary stomatocytosis    gastroschisis    endolymphatic hydrops
    glucocorticoid-remediable aldosteronism    essential hypertension    meningococcal infection    familial combined hyperlipidemia
    cerebral palsy    huntington's disease    proteinuria    familial hypercholesterolemia
    ischemic heart disease    was-related disorders    venous thromboembolism    thromboembolism
    hypertension    coronary heart disease    hypercholesterolemia    polycystic kidney disease

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

    ADD1 for disorders           About GeneDecksing

    10/16 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)
    About This Section

    PubMed articles for ADD1 gene, integrated from 9 sources (see all 279):
    (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. (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. (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. (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. (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. (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. (2006)
    7. Role of the adducin family genes in human essential hypertension. (PubMed id 15716695)1, 4, 9 Lanzani C....Manunta P. (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. (2002)
    9. [Association of alpha-adducin gene and G-protein beta3-subuint gene with essential hypertension in Chinese] (PubMed id 17825147)1, 4, 9 Huang X.H....Hui R.T. (2007)
    10. Gly460Trp alpha-adducin gene polymorphism and endothelial function in untreated hypertensive patients. (PubMed id 17921817)1, 4, 9 Perticone F....Cusi D. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 118 HGNC: 243 AceView: ADD1 Ensembl:ENSG00000087274 euGenes: HUgn118
    ECgene: ADD1 H-InvDB: ADD1

    (According to HUGE)
    About This Section
      --

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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