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Aliases for ADD1 Gene

Aliases for ADD1 Gene

  • Adducin 1 2 3 5
  • Adducin 1 (Alpha) 2 3
  • ADDA 3 4
  • Erythrocyte Adducin Alpha Subunit 3
  • Erythrocyte Adducin Subunit Alpha 4
  • Alpha-Adducin 2

External Ids for ADD1 Gene

Previous GeneCards Identifiers for ADD1 Gene

  • GC04P002834
  • GC04P002876
  • GC04P002882
  • GC04P002849
  • GC04P002846
  • GC04P002847

Summaries for ADD1 Gene

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) is a Protein Coding gene. Diseases associated with ADD1 include hypertension, essential and gastroschisis. Among its related pathways are Transport to the Golgi and subsequent modification and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include poly(A) RNA binding and protein heterodimerization activity. An important paralog of this gene is ADD2.

UniProtKB/Swiss-Prot for ADD1 Gene

  • Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to calmodulin.

Gene Wiki entry for ADD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADD1 Gene

Genomics for ADD1 Gene

Regulatory Elements for ADD1 Gene

Promoters for ADD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ADD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ADD1 Gene

Chromosome:
4
Start:
2,843,727 bp from pter
End:
2,930,076 bp from pter
Size:
86,350 bases
Orientation:
Plus strand

Genomic View for ADD1 Gene

Genes around ADD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADD1 Gene

Proteins for ADD1 Gene

  • Protein details for ADD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35611-ADDA_HUMAN
    Recommended name:
    Alpha-adducin
    Protein Accession:
    P35611
    Secondary Accessions:
    • A2A3N8
    • A2A3P0
    • B4DI79
    • D3DVR3
    • D3DVR4
    • D3DVR5
    • Q13734
    • Q14729
    • Q16156
    • Q86XM2
    • Q9UJB6

    Protein attributes for ADD1 Gene

    Size:
    737 amino acids
    Molecular mass:
    80955 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit or an alpha and a gamma subunit.
    SequenceCaution:
    • Sequence=CAA98970.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ADD1 Gene

neXtProt entry for ADD1 Gene

Proteomics data for ADD1 Gene at MOPED

Post-translational modifications for ADD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ADD1 Gene

Domains & Families for ADD1 Gene

Protein Domains for ADD1 Gene

Suggested Antigen Peptide Sequences for ADD1 Gene

Graphical View of Domain Structure for InterPro Entry

P35611

UniProtKB/Swiss-Prot:

ADDA_HUMAN :
  • 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.
  • Belongs to the aldolase class II family. Adducin subfamily.
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.
Family:
  • Belongs to the aldolase class II family. Adducin subfamily.
genes like me logo Genes that share domains with ADD1: view

No data available for Gene Families for ADD1 Gene

Function for ADD1 Gene

Molecular function for ADD1 Gene

GENATLAS Biochemistry:
adducin alpha,actin accessory protein,calmodulin binding protein,80kDa,component of the erythrocyte membrane skeleton,with an alternatively spliced isoform (70kDa)
UniProtKB/Swiss-Prot Function:
Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to calmodulin.

Gene Ontology (GO) - Molecular Function for ADD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding TAS 1840603
GO:0005198 structural molecule activity IEA --
GO:0051015 actin filament binding IDA 7642559
genes like me logo Genes that share ontologies with ADD1: view
genes like me logo Genes that share phenotypes with ADD1: view

Animal Models for ADD1 Gene

MGI Knock Outs for ADD1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ADD1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ADD1 Gene

Localization for ADD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADD1 Gene

Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ADD1 Gene COMPARTMENTS Subcellular localization image for ADD1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for ADD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ADD1: view

Pathways & Interactions for ADD1 Gene

genes like me logo Genes that share pathways with ADD1: view

SIGNOR curated interactions for ADD1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ADD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IEA --
GO:0006915 apoptotic process TAS --
GO:0020027 hemoglobin metabolic process IEA --
GO:0032092 positive regulation of protein binding IDA 3693401
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with ADD1: view

Drugs & Compounds for ADD1 Gene

(12) Drugs for ADD1 Gene - From: Novoseek and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydrochlorothiazide Approved Pharma Inhibition, Inhibitor 387
Bumetanide Approved Pharma Agonist NKCC cotransporter inhibitor, Na+/2Cl-/K+ (NKCC) symporter inhibitor 15
Furosemide Approved Pharma Agonist GABAA receptors antagonist, Na+/2Cl-/K+ (NKCC) symporter inhibitor. Also antagonizes GABAA 171
Spironolactone Approved Pharma Antagonist Mineralocorticoid receptor antagonist 159
Torasemide Approved Pharma 0

(10) Additional Compounds for ADD1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ADD1: view

Transcripts for ADD1 Gene

Unigene Clusters for ADD1 Gene

Adducin 1 (alpha):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ADD1 Gene

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: - - -
SP6: - - - - -
SP7: - - - - - -
SP8:
SP9:
SP10: - - - - - -
SP11: - - -
SP12:

ExUns: 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b
SP1: -
SP2: - - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ADD1 Gene

GeneLoc Exon Structure for
ADD1
ECgene alternative splicing isoforms for
ADD1

Expression for ADD1 Gene

mRNA expression in normal human tissues for ADD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADD1 Gene

This gene is overexpressed in Brain (11.4) and Frontal cortex (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for ADD1 Gene



SOURCE GeneReport for Unigene cluster for ADD1 Gene Hs.183706

mRNA Expression by UniProt/SwissProt for ADD1 Gene

P35611-ADDA_HUMAN
Tissue specificity: Expressed in all tissues. Found in much higher levels in reticulocytes than the beta subunit.
genes like me logo Genes that share expression patterns with ADD1: view

Protein tissue co-expression partners for ADD1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ADD1 Gene

Orthologs for ADD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ADD1 35
  • 88.07 (n)
  • 92.6 (a)
ADD1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADD1 35
  • 89.51 (n)
  • 93.6 (a)
ADD1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Add1 35
  • 88.57 (n)
  • 92.93 (a)
Add1 16
Add1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ADD1 35
  • 99.65 (n)
  • 99.61 (a)
ADD1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Add1 35
  • 88.44 (n)
  • 92.38 (a)
oppossum
(Monodelphis domestica)
Mammalia ADD1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADD1 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADD1 35
  • 81.77 (n)
  • 88.07 (a)
ADD1 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADD1 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia add1 35
  • 79.33 (n)
  • 87.56 (a)
Str.1405 35
zebrafish
(Danio rerio)
Actinopterygii add1 35
add1 35
  • 72.94 (n)
  • 80.63 (a)
add1 36
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta hts 37
  • 38 (a)
hts 35
  • 49.32 (n)
  • 42.79 (a)
hts 36
  • 15 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004852 35
  • 48.23 (n)
  • 41.59 (a)
worm
(Caenorhabditis elegans)
Secernentea add-2 37
  • 50 (a)
add-1 35
  • 50.12 (n)
  • 42.7 (a)
add-1 36
  • 33 (a)
ManyToMany
add-2 36
  • 28 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12741 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
ManyToMany
Species with no ortholog for ADD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADD1 Gene

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

Paralogs for ADD1 Gene

Paralogs for ADD1 Gene

Pseudogenes.org Pseudogenes for ADD1 Gene

genes like me logo Genes that share paralogs with ADD1: view

Variants for ADD1 Gene

Sequence variations from dbSNP and Humsavar for ADD1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs4961 - 2,904,980(+) AGGAA(G/T)GGCAG reference, missense
rs4963 - 2,915,035(+) GGGCT(C/G/T)TGAAG reference, missense
rs4971 - 2,898,250(-) TGGCT(A/T)ATCAT reference, missense
rs4972 - 2,899,402(-) CAGGA(A/T)TTTGA reference, missense
rs4962 - 2,908,528(+) GCAGA(A/T)TTTAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ADD1 Gene

Variant ID Type Subtype PubMed ID
esv2726835 CNV Deletion 23290073
nsv878444 CNV Loss 21882294
dgv5426n71 CNV Loss 21882294
dgv5427n71 CNV Loss 21882294
nsv878451 CNV Loss 21882294
nsv461162 CNV Loss 19166990
dgv313n21 CNV Gain 19592680
nsv526059 CNV Loss 19592680
esv2726864 CNV Deletion 23290073
esv1007958 CNV Deletion 20482838
nsv461163 CNV Gain 19166990

Variation tolerance for ADD1 Gene

Residual Variation Intolerance Score: 38.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.11; 96.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADD1 Gene

HapMap Linkage Disequilibrium report
ADD1
Human Gene Mutation Database (HGMD)
ADD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADD1 Gene

Disorders for ADD1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ADD1 Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypertension, essential
  • hypertension, essential 3
gastroschisis
  • congenital fissure of the abdominal cavity
pediatric hypertension
meningococcal infection
  • meningococcal infections
huntington disease
  • congenital anomalies of kidney and urinary tract 2
- elite association - COSMIC cancer census association via MalaCards
Search ADD1 in MalaCards View complete list of genes associated with diseases

Genatlas disease for ADD1 Gene

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

Relevant External Links for ADD1

Genetic Association Database (GAD)
ADD1
Human Genome Epidemiology (HuGE) Navigator
ADD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADD1
genes like me logo Genes that share disorders with ADD1: view

No data available for UniProtKB/Swiss-Prot for ADD1 Gene

Publications for ADD1 Gene

  1. Primary structure and domain organization of human alpha and beta adducin. (PMID: 1840603) Joshi R.L. … Bennett V.D. (J. Cell Biol. 1991) 2 3 4 67
  2. alpha- and beta-Adducin polymorphisms affect podocyte proteins and proteinuria in rodents and decline of renal function in human IgA nephropathy. (PMID: 19838659) Ferrandi M. … Bianchi G. (J. Mol. Med. 2010) 3 23
  3. Arterial properties in relation to genetic variations in the adducin subunits in a white population. (PMID: 18787518) SeidlerovA! J. … Bianchi G. (Am. J. Hypertens. 2009) 3 23
  4. Arterial properties in relation to genetic variation in alpha-adducin and the renin-angiotensin system in a White population. (PMID: 18800139) SeidlerovA! J. … Filipovsk Ygrave J. (J Hum Hypertens 2009) 3 23
  5. Renin-angiotensin system and alpha-adducin gene polymorphisms and their relation to responses to antihypertensive drugs: results from the GENRES study. (PMID: 19057513) SuonsyrjAo T. … Hiltunen T.P. (Am. J. Hypertens. 2009) 3 23

Products for ADD1 Gene

Sources for ADD1 Gene

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