Property Summary

NCBI Gene PubMed Count 50
Grant Count 2
Funding $47,819.44
PubMed Score 79.21
PubTator Score 110.66

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
nephrosclerosis -1.942 0.037

Synonym

Accession P82251 B2R9A6 b(0,+)AT1
Symbols BAT1
CSNU3

Gene

PANTHER Protein Class (2)

 Grant Application (2)

 OMIM Term (1)

Gene RIF (35)

PMID Text
26540609 Five SLC3A1 and SLC7A9 mutations appear to be responsible for the genetic basis of cystinuria in the Greek-Cypriot patients
26123750 G105R but not R333W mutation found in Iranian cystinuria patients
25964309 Report no association of SLC7A9 mutations with clinical course of disease in cystinuria patients.
25599739 Case Report: novel mutation of SLC7A9 gene in cystinuria.
24045899 We present six family members with a complex phenotypic profile of cystinuria based on mutations in SLC3A1 (type A) or SLC7A9 (type B).
21255007 In SLC7A9 gene, one large genomic rearrangement and 24 sequence variants are found in cystinuria patients.
20424473 Observational study of gene-disease association. (HuGE Navigator)
20383146 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
20383145 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19782624 Studies identified 6 different alleles in SLC3A1 and 2 in SLC7A9 accounting for a total of 25 copy number changes, 11 in SLC3A1 and 14 in SLC7A9.
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AA Sequence

MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWA      1 - 70
ACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPF     71 - 140
YVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNS    141 - 210
FEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTA    211 - 280
TELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLT    281 - 350
PAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLI    351 - 420
SVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE       421 - 487
//

Text Mined References (51)

PMID Year Title
26540609 2015 Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population.
26123750 2015 Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria.
25964309 2015 Clinical and genetic analysis of patients with cystinuria in the United Kingdom.
25599739 2015 Cystinuria in a patient with a novel mutation in SLC7A9 gene.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24586186 2014 Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
24045899 2014 Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup.
22197932 2011 Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.
21912425 2013 A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.
21572414 2011 A genome-wide association study of metabolic traits in human urine.
More...