Property Summary

NCBI Gene PubMed Count 30
Grant Count 81
R01 Count 41
Funding $16,630,151.19
PubMed Score 78.91
PubTator Score 20.62

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9UEY8 D3DRA8 O43243 Q5VU09 Q92773 Q9UEY7
Symbols ADDL
CPSQ3

Gene

Gene RIF (21)

PMID Text
25285724 ADD3 gene plays an important role in biliary atresia pathogenesis.
24104524 ADD3 gene may be functionally relevant for the development of biliary atresia
23872602 Common genetic variants in 10q24.2 can alter biliary atresia risk by regulating ADD3 expression levels in the liver, and may exert an effect on disease epidemiology and on the general population.
23836506 Homozygous p.G367D mutation in ADD3 causes spastic diplegic/quadriplegic cerebral palsy and intellectual disability.
23814265 High expression of ADD3 is associated with glioma.
23333304 HIV-1 Vif downregulates the expression of adducin 3 protein gamma (ADD3) in Vif-expression T cells
21164023 gamma-adducin may influence blood pressure homeostasis by modulating renal NaCl transport.
20810786 These findings suggest novel roles for adducins in stabilization of epithelial junctions and regulation of junctional remodeling.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
More...

AA Sequence

MSSDASQGVITTPPPPSMPHKERYFDRINENDPEYIRERNMSPDLRQDFNMMEQRKRVTQILQSPAFRED      1 - 70
LECLIQEQMKKGHNPTGLLALQQIADYIMANSFSGFSSPPLSLGMVTPINDLPGADTSSYVKGEKLTRCK     71 - 140
LASLYRLVDLFGWAHLANTYISVRISKEQDHIIIIPRGLSFSEATASNLVKVNIIGEVVDQGSTNLKIDH    141 - 210
TGFSPHAAIYSTRPDVKCVIHIHTLATAAVSSMKCGILPISQESLLLGDVAYYDYQGSLEEQEERIQLQK    211 - 280
VLGPSCKVLVLRNHGVVALGETLEEAFHYIFNVQLACEIQVQALAGAGGVDNLHVLDFQKYKAFTYTVAA    281 - 350
SGGGGVNMGSHQKWKVGEIEFEGLMRTLDNLGYRTGYAYRHPLIREKPRHKSDVEIPATVTAFSFEDDTV    351 - 420
PLSPLKYMAQRQQREKTRWLNSPNTYMKVNVPEESRNGETSPRTKITWMKAEDSSKVSGGTPIKIEDPNQ    421 - 490
FVPLNTNPNEVLEKRNKIREQNRYDLKTAGPQSQLLAGIVVDKPPSTMQFEDDDHGPPAPPNPFSHLTEG    491 - 560
ELEEYKRTIERKQQGLEDAEQELLSDDASSVSQIQSQTQSPQNVPEKLEENHELFSKSFISMEVPVMVVN    561 - 630
GKDDMHDVEDELAKRVSRLSTSTTIENIEITIKSPEKIEEVLSPEGSPSKSPSKKKKKFRTPSFLKKNKK    631 - 700
KEKVEA                                                                    701 - 706
//

Text Mined References (41)

PMID Year Title
25285724 2014 Association between single nucleotide polymorphisms in the ADD3 gene and susceptibility to biliary atresia.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24104524 2014 Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia.
23872602 2013 Common genetic variants regulating ADD3 gene expression alter biliary atresia risk.
23836506 2013 Mutations in ? adducin are associated with inherited cerebral palsy.
23814265 2013 MiR-145 functions as a tumor-suppressive RNA by targeting Sox9 and adducin 3 in human glioma cells.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
21164023 2011 ?-Adducin stimulates the thiazide-sensitive NaCl cotransporter.
More...