Gene Gene information from NCBI Gene database.
Entrez ID 118
Gene name Adducin 1
Gene symbol ADD1
Synonyms (NCBI Gene)
ADDA
Chromosome 4
Chromosome location 4p16.3
Summary 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-add
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs4961 G>A,T Risk-factor, drug-response Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
380
miRTarBase ID miRNA Experiments Reference
MIRT030434 hsa-miR-24-3p Microarray 19748357
MIRT046898 hsa-miR-221-3p CLASH 23622248
MIRT644229 hsa-miR-543 HITS-CLIP 23824327
MIRT644228 hsa-miR-660-3p HITS-CLIP 23824327
MIRT644227 hsa-miR-1237-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0003779 Function Actin binding IEA
GO:0003779 Function Actin binding TAS 1840603
GO:0005515 Function Protein binding IPI 25416956, 32814053, 33961781
GO:0005516 Function Calmodulin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
102680 243 ENSG00000087274
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35611
Protein name Alpha-adducin (Erythrocyte adducin subunit alpha)
Protein function Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to calmodulin.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00596 Aldolase_II 147 329 Class II Aldolase and Adducin N-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues. Found in much higher levels in reticulocytes than the beta subunit.
Sequence
MNGDSRAAVVTSPPPTTAPHKERYFDRVDENNPEYLRERNMAPDLRQDFNMMEQKKRVSM
ILQSPAFCEELESMIQEQFKKGKNPTGLLALQQIADFMTTNVPNVYPAAPQGGMAALNMS
LGMVTPVNDLRGSDSIAYDKGEKLLRCKLAAFYRLADLFGWSQLIYNHITTRVNSEQEHF
LIVPFGLLYSEVTASSLVKINLQGDIVDRGSTNLGVNQAGFTLHSAIYAARPDVKCVVHI
HTPAGAAVSAMKCGLLPISPEALSLGEVAYHDYHGILVDEEEKVLIQKNLGPKSKVLILR
NHGLVSVGESVEEAFYYIHNLVVACEIQV
RTLASAGGPDNLVLLNPEKYKAKSRSPGSPV
GEGTGSPPKWQIGEQEFEALMRMLDNLGYRTGYPYRYPALREKSKKYSDVEVPASVTGYS
FASDGDSGTCSPLRHSFQKQQREKTRWLNSGRGDEASEEGQNGSSPKSKTKWTKEDGHRT
STSAVPNLFVPLNTNPKEVQEMRNKIREQNLQDIKTAGPQSQVLCGVVMDRSLVQGELVT
ASKAIIEKEYQPHVIVSTTGPNPFTTLTDRELEEYRREVERKQKGSEENLDEAREQKEKS
PPDQPAVPHPPPSTPIKLEEDLVPEPTTGDDSDAATFKPTLPDLSPDEPSEALGFPMLEK
EEEAHRPPSPTEAPTEASPEPAPDPAPVAEEAAPSAVEEGAAADPGSDGSPGKSPSKKKK
KFRTPSFLKKSKKKSDS
Sequence length 737
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Caspase-mediated cleavage of cytoskeletal proteins
XBP1(S) activates chaperone genes
Miscellaneous transport and binding events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Esophageal atresia/tracheoesophageal fistula Likely pathogenic rs1731205978 RCV001172284
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ADD1-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arteriosclerosis Arteriosclerosis BEFREE 11283377, 12052841, 23540412
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 11283377, 12052841, 23540412
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma of lung Lung carcinoma BEFREE 31399647
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 12052841, 16702981, 17082469
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases LHGDN 12052841
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular disease Pubtator 31760884 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral Hemorrhage Cerebral hemorrhage Pubtator 21339657 Associate
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 11283377, 11926892, 14684671, 15301563, 15699449, 17189961, 18458162, 21194526
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke LHGDN 11926892
★☆☆☆☆
Found in Text Mining only
Chronic kidney disease stage 5 Kidney Disease BEFREE 11918733, 12697976, 13679477
★☆☆☆☆
Found in Text Mining only