• Gene id: 120

Gene Summary

• Gene Symbol: ADD3   Gene   UCSC   Ensembl
• Aliases: ADDL, CPSQ3
• Gene name: adducin 3
• Alternate names: gamma-adducin, adducin 3 (gamma), adducin-like protein 70,
• Gene location: 10q25.1-q25.2 (109996364: 110135564)     Exons: 23     NC_000010.11
• Gene summary(Entrez): Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin
• OMIM: 601568

Protein Summary

• Protein general information: Q9UEY8  
  • Name: Gamma adducin (Adducin like protein 70)
  • Length: 706  
  • Mass: 79155
  • Tissue specificity: Isoform 1 is ubiquitously expressed. {ECO
• Sequence:

  MSSDASQGVITTPPPPSMPHKERYFDRINENDPEYIRERNMSPDLRQDFNMMEQRKRVTQILQSPAFREDLECLI
  QEQMKKGHNPTGLLALQQIADYIMANSFSGFSSPPLSLGMVTPINDLPGADTSSYVKGEKLTRCKLASLYRLVDL
  FGWAHLANTYISVRISKEQDHIIIIPRGLSFSEATASNLVKVNIIGEVVDQGSTNLKIDHTGFSPHAAIYSTRPD
  VKCVIHIHTLATAAVSSMKCGILPISQESLLLGDVAYYDYQGSLEEQEERIQLQKVLGPSCKVLVLRNHGVVALG
  ETLEEAFHYIFNVQLACEIQVQALAGAGGVDNLHVLDFQKYKAFTYTVAASGGGGVNMGSHQKWKVGEIEFEGLM
  RTLDNLGYRTGYAYRHPLIREKPRHKSDVEIPATVTAFSFEDDTVPLSPLKYMAQRQQREKTRWLNSPNTYMKVN
  VPEESRNGETSPRTKITWMKAEDSSKVSGGTPIKIEDPNQFVPLNTNPNEVLEKRNKIREQNRYDLKTAGPQSQL
  LAGIVVDKPPSTMQFEDDDHGPPAPPNPFSHLTEGELEEYKRTIERKQQGLEDAEQELLSDDASSVSQIQSQTQS
  PQNVPEKLEENHELFSKSFISMEVPVMVVNGKDDMHDVEDELAKRVSRLSTSTTIENIEITIKSPEKIEEVLSPE
  GSPSKSPSKKKKKFRTPSFLKKNKKKEKVEA

• Structural information:
  • Interpro: IPR027772  IPR001303  IPR036409  
  • STRING: ENSP00000348381
• Other Databases: GeneCards:  ADD3  Malacards:  ADD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005198	structural molecule activity	IBA	molecular function
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:0005856	cytoskeleton	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0016020	membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:0005911	cell-cell junction	IEA	cellular component
GO:0000794	condensed nuclear chromosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005903	brush border	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component

Diseases

Associated diseases	References
Spastic quadriplegic cerebral palsy	KEGG:H01097
Spastic quadriplegic cerebral palsy	KEGG:H01097
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881