Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
118
Gene name Gene Name - the full gene name approved by the HGNC.
Adducin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ADD1
Synonyms (NCBI Gene) Gene synonyms aliases
ADDA
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p16.3
Summary Summary of gene provided in NCBI Entrez 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-add
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IEA
GO:0001701 Process In utero embryonic development IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0003779 Function Actin binding TAS 1840603
GO:0005200 Function Structural constituent of cytoskeleton IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
102680 243 ENSG00000087274
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hypertension Hypertensive disease, Essential Hypertension rs13306026 19199261, 15773232
Unknown
Disease term Disease name Evidence References Source
Huntington disease Huntington Disease 22387017 ClinVar
Huntington Disease Huntington Disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Non Small Cell Lung Associate 30290240
Cardiovascular Diseases Associate 31760884
Cerebral Hemorrhage Associate 21339657
Cognitive Dysfunction Associate 19274077
Colorectal Neoplasms Associate 25816007
Coronary Artery Disease Associate 18657677, 35866398
Death Associate 18657677
Diabetes Mellitus Associate 30062972
Essential Hypertension Associate 10720960, 11710759, 12427140, 15608390, 23509723, 23691048, 24718403, 28686109, 29049185, 30062972, 32555714, 39352780, 9582105, 9607177
Gastroschisis Associate 27616475