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Add1 adducin 1 [ Mus musculus (house mouse) ]

Gene ID: 11518, updated on 12-Feb-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
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Genomic context

See Add1 in Genome Data Viewer
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)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (2) 

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
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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
    UniProtKB/TrEMBL
    Q8K232
  12. NM_001420952.1NP_001407881.1  alpha-adducin isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC115695
    UniProtKB/TrEMBL
    Q8K232
  13. NM_001420953.1NP_001407882.1  alpha-adducin isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC115695
    UniProtKB/TrEMBL
    Q8K232
  14. NM_001420954.1NP_001407883.1  alpha-adducin isoform 12

    Status: VALIDATED

    Source sequence(s)
    AC115695
    UniProtKB/TrEMBL
    Q8K232
  15. NM_001420955.1NP_001407884.1  alpha-adducin isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC115695
    UniProtKB/TrEMBL
    F8WGR0, Q8K232
  16. NM_001420956.1NP_001407885.1  alpha-adducin isoform 13

    Status: VALIDATED

    Source sequence(s)
    AC115695
    UniProtKB/TrEMBL
    F8WHZ9, Q8K232
  17. NM_001420957.1NP_001407886.1  alpha-adducin isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC115695
    UniProtKB/TrEMBL
    Q8K232
  18. NM_001420958.1NP_001407887.1  alpha-adducin isoform 14

    Status: VALIDATED

    Source sequence(s)
    AC115695
    UniProtKB/TrEMBL
    E9Q1K3, Q8K232
  19. NM_001420960.1NP_001407889.1  alpha-adducin isoform 15

    Status: VALIDATED

    Source sequence(s)
    AC115695
    UniProtKB/TrEMBL
    Q8K232
  20. NM_001420961.1NP_001407890.1  alpha-adducin isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC115695
    UniProtKB/TrEMBL
    Q8K232
  21. NM_001420962.1NP_001407891.1  alpha-adducin isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC115695
    UniProtKB/TrEMBL
    Q8K232
  22. NM_001420963.1NP_001407892.1  alpha-adducin isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC115695
    UniProtKB/TrEMBL
    Q8K232
  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). ...