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Aliases for ADD1 Gene

Aliases for ADD1 Gene

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

External Ids for ADD1 Gene

Previous GeneCards Identifiers for ADD1 Gene

  • GC04P002834
  • GC04P002876
  • GC04P002882
  • GC04P002849
  • GC04P002846
  • GC04P002847
  • GC04P002848
  • GC04P002850
  • GC04P002852
  • GC04P002853
  • GC04P002854

Summaries for ADD1 Gene

Entrez Gene Summary for ADD1 Gene

  • Adducins are a family of cytoskeletal proteins encoded by three genes (alpha, beta, and gamma). Adducin acts as a heterodimer of the related alpha, beta, or gamma subunits. The protein encoded by this gene represents the alpha subunit. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. [provided by RefSeq, Aug 2017]

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 CDK-mediated phosphorylation and removal of Cdc6 and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity. An important paralog of this gene is ADD3.

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

Additional gene information for ADD1 Gene

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

Genomics for ADD1 Gene

GeneHancer (GH) Regulatory Elements for ADD1 Gene

Promoters and enhancers for ADD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I002842 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.8 763 3.8 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 IRF4 POLR2B ZNF213 ADD1 GC04P002843 GC04P002845 GC04P002844 GRK4 TNIP2 PIR46708 GC04P002904
GH04I002866 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 562.5 +24.0 23978 3.4 ATF1 FOXA2 ARNT ARID4B YY1 TCF12 ZNF766 GATA2 E2F8 RXRA ADD1 GRK4 TNIP2 MFSD10 NOP14-AS1 NOP14 GC04P002843 GC04P002844 GC04P002845 GC04P002904
GH04I002875 Promoter/Enhancer 0.7 EPDnew dbSUPER 550.3 +32.2 32197 0.1 ADD1 MFSD10 NOP14-AS1 TNIP2 GC04P002904 PIR46708 GC04P002843 GC04P002844 GC04P002845
GH04I002792 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.9 -43.4 -43409 15.2 HDGF PKNOX1 CLOCK MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SH3BP2 TNIP2 ADD1 NOP14-AS1 GRK4 CFAP99 ZFYVE28 HTT
GH04I002255 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 9.8 -584.4 -584406 8.1 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF207 ZNF143 MXD4 FAM193A HAUS3 RNF4 NOP14 CRIPAK ADD1 ENSG00000244459 SLBP GC04M002217
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADD1 gene promoter:

Genomic Locations for ADD1 Gene

Genomic Locations for ADD1 Gene
chr4:2,843,727-2,930,076
(GRCh38/hg38)
Size:
86,350 bases
Orientation:
Plus strand
chr4:2,845,584-2,931,803
(GRCh37/hg19)

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

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

Gene Families for ADD1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

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

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.

Phenotypes From GWAS Catalog for ADD1 Gene

Gene Ontology (GO) - Molecular Function for ADD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IDA 22658674
GO:0003779 actin binding TAS 1840603
GO:0005198 structural molecule activity IEA --
GO:0005516 calmodulin binding IEA --
GO:0008134 transcription factor binding IPI 16289097
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:

miRNA for ADD1 Gene

miRTarBase miRNAs that target ADD1

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADD1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16289097
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 25978380
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton 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:0001701 in utero embryonic development IEA --
GO:0006884 cell volume homeostasis IEA --
GO:0020027 hemoglobin metabolic process IEA --
GO:0030036 actin cytoskeleton organization IC 3693401
genes like me logo Genes that share ontologies with ADD1: view

Drugs & Compounds for ADD1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydrochlorothiazide Approved, Vet_approved Pharma Inhibition, Inhibitor 425
Bumetanide Approved Pharma Agonist NKCC cotransporter inhibitor, Na+/2Cl-/K+ (NKCC) symporter inhibitor 19
Furosemide Approved, Vet_approved Pharma Agonist GABAA receptors antagonist, Na+/2Cl-/K+ (NKCC) symporter inhibitor. Also antagonizes GABAA 209
Spironolactone Approved Pharma Antagonist 244
Torasemide Approved Pharma 0

(9) 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ADD1 Gene



Protein tissue co-expression partners for ADD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ADD1 Gene:

ADD1

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.

Evidence on tissue expression from TISSUES for ADD1 Gene

  • Nervous system(4.9)
  • Blood(4.5)
  • Liver(4.4)
  • Eye(4)
  • Kidney(3.2)
  • Lung(2.9)
  • Muscle(2.6)
  • Heart(2.2)
  • Intestine(2.1)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with ADD1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ADD1 33 34
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia ADD1 33 34
  • 89.51 (n)
mouse
(Mus musculus)
Mammalia Add1 33 16 34
  • 88.57 (n)
rat
(Rattus norvegicus)
Mammalia Add1 33
  • 88.44 (n)
cow
(Bos Taurus)
Mammalia ADD1 33 34
  • 88.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADD1 34
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ADD1 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADD1 34 33
  • 81.77 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADD1 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia add1 33
  • 79.33 (n)
Str.1405 33
zebrafish
(Danio rerio)
Actinopterygii add1 34 33 33
  • 72.94 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta hts 35 33 34
  • 49.32 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004852 33
  • 48.23 (n)
worm
(Caenorhabditis elegans)
Secernentea add-1 33 34
  • 50.12 (n)
add-2 35 34
  • 50 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12741 33
Species where no ortholog for ADD1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs4961 risk-factor, drug-response, Hypertension, salt-sensitive essential, susceptibility to, furosemide and spironolactone response - Efficacy 2,904,980(+) G/A/T coding_sequence_variant, missense_variant
rs1000002666 -- 2,899,930(+) G/T intron_variant
rs1000009237 -- 2,860,569(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000035324 -- 2,900,219(+) G/A intron_variant
rs1000035585 -- 2,857,270(+) T/C genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv313n21 CNV gain 19592680
esv1007958 CNV deletion 20482838
esv2726835 CNV deletion 23290073
esv2726864 CNV deletion 23290073
esv3335256 CNV insertion 20981092
esv3383963 CNV duplication 20981092
esv3419163 CNV duplication 20981092
esv3599411 CNV loss 21293372
nsv461162 CNV loss 19166990
nsv461163 CNV gain 19166990
nsv526059 CNV loss 19592680
nsv593435 CNV loss 21841781
nsv593436 CNV loss 21841781
nsv593437 CNV gain 21841781

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)

Additional Variant Information for ADD1 Gene

Human Gene Mutation Database (HGMD)
ADD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADD1

SNP Genotyping and Copy Number Assay Products

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

Disorders for ADD1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hypertension, essential
  • eht
gastroschisis
  • congenital fissure of the abdominal cavity
pediatric hypertension
hereditary elliptocytosis
  • congenital elliptocytosis
meningococcal infection
  • meningococcal infections
- 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)

Additional Disease Information for ADD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. 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 (Journal of molecular medicine (Berlin, Germany) 2010) 3 22 44 58
  2. The contribution of six polymorphisms to cardiovascular risk in a Dutch high-risk primary care population: the HIPPOCRATES project. (PMID: 19242491) Plat AW … Kroon AA (Journal of human hypertension 2009) 3 22 44 58
  3. Arterial properties in relation to genetic variations in the adducin subunits in a white population. (PMID: 18787518) Seidlerová J … Bianchi G (American journal of hypertension 2009) 3 22 44 58
  4. Arterial properties in relation to genetic variation in alpha-adducin and the renin-angiotensin system in a White population. (PMID: 18800139) Seidlerová J … Filipovsk Ygrave J (Journal of human hypertension 2009) 3 22 44 58
  5. Renin-angiotensin system and alpha-adducin gene polymorphisms and their relation to responses to antihypertensive drugs: results from the GENRES study. (PMID: 19057513) Suonsyrjä T … Hiltunen TP (American journal of hypertension 2009) 3 22 44 58

Products for ADD1 Gene

Sources for ADD1 Gene

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