• Gene id: 118

Gene Summary

• Gene Symbol: ADD1   Gene   UCSC   Ensembl
• Aliases: ADDA
• Gene name: adducin 1
• Alternate names: alpha-adducin, adducin 1 (alpha), erythrocyte adducin alpha subunit,
• Gene location: 4p16.3 (2843843: 2930075)     Exons: 19     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 174762

SNPs

rs777105668

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.184354548C>T
NC_000003.11   g.184072336C>T
NG_016422.1   g.12056G>A
NM_004366.6   c.1507G>A
NM_004366.5   c.1507G>A
NM_001171087.3   c.1456G>A
NM_001171087.2   c.1456G>A
NM_001171089.3   c.1507G>A
NM_001171089.2   c.1507G>A
NM_001171088.3   c.1375G>A
NM  

Protein Summary

• Protein general information: P35611  
  • Name: Alpha adducin (Erythrocyte adducin subunit alpha)
  • Length: 737  
  • Mass: 80955
  • Tissue specificity: Expressed in all tissues. Found in much higher levels in reticulocytes than the beta subunit.
• Sequence:

  MNGDSRAAVVTSPPPTTAPHKERYFDRVDENNPEYLRERNMAPDLRQDFNMMEQKKRVSMILQSPAFCEELESMI
  QEQFKKGKNPTGLLALQQIADFMTTNVPNVYPAAPQGGMAALNMSLGMVTPVNDLRGSDSIAYDKGEKLLRCKLA
  AFYRLADLFGWSQLIYNHITTRVNSEQEHFLIVPFGLLYSEVTASSLVKINLQGDIVDRGSTNLGVNQAGFTLHS
  AIYAARPDVKCVVHIHTPAGAAVSAMKCGLLPISPEALSLGEVAYHDYHGILVDEEEKVLIQKNLGPKSKVLILR
  NHGLVSVGESVEEAFYYIHNLVVACEIQVRTLASAGGPDNLVLLNPEKYKAKSRSPGSPVGEGTGSPPKWQIGEQ
  EFEALMRMLDNLGYRTGYPYRYPALREKSKKYSDVEVPASVTGYSFASDGDSGTCSPLRHSFQKQQREKTRWLNS
  GRGDEASEEGQNGSSPKSKTKWTKEDGHRTSTSAVPNLFVPLNTNPKEVQEMRNKIREQNLQDIKTAGPQSQVLC
  GVVMDRSLVQGELVTASKAIIEKEYQPHVIVSTTGPNPFTTLTDRELEEYRREVERKQKGSEENLDEAREQKEKS
  PPDQPAVPHPPPSTPIKLEEDLVPEPTTGDDSDAATFKPTLPDLSPDEPSEALGFPMLEKEEEAHRPPSPTEAPT
  EASPEPAPDPAPVAEEAAPSAVEEGAAADPGSDGSPGKSPSKKKKKFRTPSFLKKSKKKSDS

• Structural information:
  • Interpro: IPR027766  IPR001303  IPR036409  
  • STRING: ENSP00000264758
• Other Databases: GeneCards:  ADD1  Malacards:  ADD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005198	structural molecule activity	IBA	molecular function
GO:0005912	adherens junction	IBA	cellular component
GO:0030507	spectrin binding	IBA	molecular function
GO:0051015	actin filament binding	IBA	molecular function
GO:0051016	barbed-end actin filament capping	IBA	biological process
GO:0005856	cytoskeleton	IBA	cellular component
GO:0014069	postsynaptic density	IBA	cellular component
GO:0044853	plasma membrane raft	IBA	cellular component
GO:0051017	actin filament bundle assembly	IBA	biological process
GO:1903142	positive regulation of establishment of endothelial barrier	IBA	biological process
GO:1903393	positive regulation of adherens junction organization	IBA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003779	actin binding	TAS	molecular function
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0055085	transmembrane transport	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0071277	cellular response to calcium ion	IEA	biological process
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological process
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0020027	hemoglobin metabolic process	IEA	biological process
GO:0006884	cell volume homeostasis	IEA	biological process
GO:0005912	adherens junction	IEA	cellular component
GO:0000902	cell morphogenesis	IEA	biological process
GO:1903393	positive regulation of adherens junction organization	IEA	biological process
GO:1903142	positive regulation of establishment of endothelial barrier	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	IEA	molecular function
GO:0001701	in utero embryonic development	IEA	biological process
GO:0030507	spectrin binding	IDA	molecular function
GO:0051015	actin filament binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0008290	F-actin capping protein complex	IDA	cellular component
GO:0030036	actin cytoskeleton organization	IC	biological process
GO:0032092	positive regulation of protein binding	IDA	biological process
GO:0032092	positive regulation of protein binding	IDA	biological process
GO:0051016	barbed-end actin filament capping	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0051017	actin filament bundle assembly	IDA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:1903142	positive regulation of establishment of endothelial barrier	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:1903393	positive regulation of adherens junction organization	IDA	biological process
GO:0005912	adherens junction	IDA	cellular component
GO:0005886	plasma membrane	IDA	colocalizes with
GO:0071277	cellular response to calcium ion	IDA	biological process
GO:0005925	focal adhesion	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Pre-eclampsia	PMID:19731222
Hypertension	PMID:9149697
Gastroschisis	PMID:17051589
Familial combined hyperlipidemia	PMID:11775124
Atherosclerosis	PMID:17082469
Myocardial infarction	PMID:17082469
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881