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    Add1 adducin 1 [ Mus musculus (house mouse) ]

    Gene ID: 11518, updated on 12-May-2024

    Summary

    Official Symbol
    Add1provided by MGI
    Official Full Name
    adducin 1provided by MGI
    Primary source
    MGI:MGI:87918
    See related
    Ensembl:ENSMUSG00000029106 AllianceGenome:MGI:87918
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    A structural constituent of cytoskeleton. Involved in cellular response to calcium ion; positive regulation of adherens junction organization; and positive regulation of establishment of endothelial barrier. Acts upstream of or within several processes, including cell volume homeostasis; erythrocyte differentiation; and hemoglobin metabolic process. Located in adherens junction; cytoskeleton; and membrane. Colocalizes with plasma membrane. Is expressed in brown fat; cerebellum; and spleen. Used to study hydrocephalus. Human ortholog(s) of this gene implicated in IgA glomerulonephritis; artery disease (multiple); familial combined hyperlipidemia; and gastroschisis. Orthologous to human ADD1 (adducin 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in colon adult (RPKM 54.1), cortex adult (RPKM 53.6) and 28 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    5 B2; 5 17.9 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (34731008..34789652)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (34573664..34632308)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene TNFAIP3 interacting protein 2 Neighboring gene STARR-positive B cell enhancer ABC_E10314 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:34863580-34863766 Neighboring gene STARR-positive B cell enhancer ABC_E10315 Neighboring gene STARR-positive B cell enhancer ABC_E6321 Neighboring gene SH3-domain binding protein 2 Neighboring gene predicted gene, 22847 Neighboring gene STARR-positive B cell enhancer ABC_E3568 Neighboring gene microRNA 7036b Neighboring gene STARR-seq mESC enhancer starr_12845 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:34979450-34979637 Neighboring gene major facilitator superfamily domain containing 10 Neighboring gene NOP14 nucleolar protein Neighboring gene predicted gene 15522

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (1)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA polymerase II-specific DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables T cell receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables actin filament binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein dimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables spectrin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables structural constituent of cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin filament bundle assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in barbed-end actin filament capping IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in barbed-end actin filament capping ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell volume homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to calcium ion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to retinoic acid ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hemoglobin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within homeostasis of number of cells within a tissue IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of actin filament polymerization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of adherens junction organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of adherens junction organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of adherens junction organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of angiogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of endocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of establishment of endothelial barrier IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of establishment of endothelial barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of establishment of endothelial barrier ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of F-actin capping protein complex ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in adherens junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in adherens junction ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    located_in dendritic spine ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    colocalizes_with plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in synapse EXP
    Inferred from Experiment
    more info
    PubMed 
    is_active_in synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    alpha-adducin
    Names
    adducin 1 (alpha)
    erythrocyte adducin subunit alpha

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001024458.4NP_001019629.2  alpha-adducin isoform 1

      See identical proteins and their annotated locations for NP_001019629.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC115695, AF096839, AF189771, AK054558, CD349465, CF531553
      Consensus CDS
      CCDS19216.1
      UniProtKB/Swiss-Prot
      Q9JLE3, Q9QYC0
      UniProtKB/TrEMBL
      Q8K232
      Related
      ENSMUSP00000109979.3, ENSMUST00000114340.9
      Conserved Domains (2) summary
      pfam15310
      Location:595701
      VAD1-2; Vitamin A-deficiency (VAD) rat model signalling
      cl00214
      Location:145391
      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_001102444.2NP_001095914.1  alpha-adducin isoform 3

      See identical proteins and their annotated locations for NP_001095914.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the end of an exon and has an alternate exon compared to variant 1 that contains an in-frame stop codon. The resulting isoform (3) contains an internal 31 aa segment not found in isoform 1, but it is still shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC115695, AF096839, AK054558, CF531553
      Consensus CDS
      CCDS51471.1
      UniProtKB/TrEMBL
      F8WGR0, Q8K232
      Related
      ENSMUSP00000001108.5, ENSMUST00000001108.11
      Conserved Domains (1) summary
      cl00214
      Location:145391
      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_001331080.1NP_001318009.1  alpha-adducin isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC115695
      Consensus CDS
      CCDS19216.1
      UniProtKB/Swiss-Prot
      Q9JLE3, Q9QYC0
      UniProtKB/TrEMBL
      Q8K232
      Conserved Domains (2) summary
      pfam15310
      Location:595701
      VAD1-2; Vitamin A-deficiency (VAD) rat model signalling
      cl00214
      Location:145391
      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_001331081.1NP_001318010.1  alpha-adducin isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC115695
      UniProtKB/TrEMBL
      Q8K232
      Conserved Domains (1) summary
      cl00214
      Location:145391
      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). ...
    5. NM_001331082.1NP_001318011.1  alpha-adducin isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC115695
      UniProtKB/TrEMBL
      Q8K232
      Conserved Domains (2) summary
      PHA03307
      Location:645766
      PHA03307; transcriptional regulator ICP4; Provisional
      cl00214
      Location:145391
      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). ...
    6. NM_001331083.1NP_001318012.1  alpha-adducin isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC115695
      UniProtKB/TrEMBL
      Q8K232
      Conserved Domains (2) summary
      PHA03307
      Location:616737
      PHA03307; transcriptional regulator ICP4; Provisional
      cl00214
      Location:145391
      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). ...
    7. NM_001331084.1NP_001318013.1  alpha-adducin isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC115695
      UniProtKB/TrEMBL
      Q8K232
      Conserved Domains (2) summary
      PHA03307
      Location:614735
      PHA03307; transcriptional regulator ICP4; Provisional
      cl00214
      Location:145391
      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). ...
    8. NM_001331085.1NP_001318014.1  alpha-adducin isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC115695
      UniProtKB/TrEMBL
      Q8K232
      Conserved Domains (1) summary
      cl00214
      Location:145391
      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). ...
    9. NM_001331086.1NP_001318015.1  alpha-adducin isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC115695
      UniProtKB/TrEMBL
      Q8K232
      Conserved Domains (1) summary
      cl00214
      Location:145391
      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). ...
    10. NM_001331087.1NP_001318016.1  alpha-adducin isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC115695
      UniProtKB/TrEMBL
      Q8K232
      Conserved Domains (1) summary
      cl00214
      Location:145391
      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). ...
    11. NM_001420951.1NP_001407880.1  alpha-adducin isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC115695
    12. NM_001420952.1NP_001407881.1  alpha-adducin isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC115695
    13. NM_001420953.1NP_001407882.1  alpha-adducin isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC115695
    14. NM_001420954.1NP_001407883.1  alpha-adducin isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC115695
    15. NM_001420955.1NP_001407884.1  alpha-adducin isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC115695
      UniProtKB/TrEMBL
      F8WGR0
    16. NM_001420956.1NP_001407885.1  alpha-adducin isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC115695
      UniProtKB/TrEMBL
      F8WHZ9
    17. NM_001420957.1NP_001407886.1  alpha-adducin isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC115695
    18. NM_001420958.1NP_001407887.1  alpha-adducin isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC115695
      UniProtKB/TrEMBL
      E9Q1K3
    19. NM_001420960.1NP_001407889.1  alpha-adducin isoform 15

      Status: VALIDATED

      Source sequence(s)
      AC115695
    20. NM_001420961.1NP_001407890.1  alpha-adducin isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC115695
    21. NM_001420962.1NP_001407891.1  alpha-adducin isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC115695
    22. NM_001420963.1NP_001407892.1  alpha-adducin isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC115695
    23. NM_013457.4NP_038485.1  alpha-adducin isoform 2

      See identical proteins and their annotated locations for NP_038485.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate exon compared to variant 1 that contains an in-frame stop codon. The resulting isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC115695, AF096839, AK054558, CD349465, CF531553
      Consensus CDS
      CCDS39069.1
      UniProtKB/TrEMBL
      Q8K232
      Related
      ENSMUSP00000109977.3, ENSMUST00000114338.9
      Conserved Domains (1) summary
      cl00214
      Location:145391
      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: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      34731008..34789652
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030254071.2XP_030109931.1  alpha-adducin isoform X18

      UniProtKB/TrEMBL
      Q8K232
      Conserved Domains (1) summary
      cl00214
      Location:145391
      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. XM_030254070.2XP_030109930.1  alpha-adducin isoform X14

      UniProtKB/TrEMBL
      Q8K232
      Conserved Domains (1) summary
      cl00214
      Location:145391
      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. XM_006503680.4XP_006503743.1  alpha-adducin isoform X16

      UniProtKB/TrEMBL
      E9Q1K3, Q8K232
      Conserved Domains (1) summary
      cl00214
      Location:145391
      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. XM_006503674.4XP_006503737.1  alpha-adducin isoform X5

      See identical proteins and their annotated locations for XP_006503737.1

      UniProtKB/TrEMBL
      Q8K232
      Conserved Domains (1) summary
      cl00214
      Location:145391
      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). ...
    5. XM_006503676.4XP_006503739.1  alpha-adducin isoform X7

      See identical proteins and their annotated locations for XP_006503739.1

      UniProtKB/TrEMBL
      Q8K232
      Conserved Domains (1) summary
      cl00214
      Location:145391
      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). ...
    6. XM_006503677.4XP_006503740.1  alpha-adducin isoform X10

      See identical proteins and their annotated locations for XP_006503740.1

      UniProtKB/TrEMBL
      F8WGR0, Q8K232
      Conserved Domains (1) summary
      cl00214
      Location:145391
      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). ...
    7. XM_030254067.1XP_030109927.1  alpha-adducin isoform X8

      UniProtKB/TrEMBL
      Q8K232
      Conserved Domains (1) summary
      cl00214
      Location:145391
      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). ...
    8. XM_006503679.3XP_006503742.1  alpha-adducin isoform X12

      See identical proteins and their annotated locations for XP_006503742.1

      UniProtKB/TrEMBL
      F8WHZ9, Q8K232
      Conserved Domains (1) summary
      cl00214
      Location:145391
      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). ...
    9. XM_006503669.5XP_006503732.1  alpha-adducin isoform X1

      See identical proteins and their annotated locations for XP_006503732.1

      UniProtKB/TrEMBL
      Q8K232
      Conserved Domains (2) summary
      PHA03307
      Location:645766
      PHA03307; transcriptional regulator ICP4; Provisional
      cl00214
      Location:145391
      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). ...