Property Summary

NCBI Gene PubMed Count 59
Grant Count 7
R01 Count 2
Funding $409,363.27
PubMed Score 386.68
PubTator Score 138.94

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (18)

Disease log2 FC p
nephrosclerosis -1.473 0.018
astrocytic glioma -2.800 0.016
ependymoma -2.900 0.028
oligodendroglioma -2.800 0.017
Barrett's esophagus 2.000 0.049
psoriasis -1.300 0.000
osteosarcoma -1.346 0.000
glioblastoma -1.800 0.000
atypical teratoid / rhabdoid tumor -1.700 0.000
medulloblastoma -1.400 0.000
medulloblastoma, large-cell -2.200 0.000
intraductal papillary-mucinous adenoma (... -3.600 0.008
intraductal papillary-mucinous carcinoma... -4.000 0.002
active Crohn's disease -1.635 0.002
pancreatic cancer -1.900 0.044
pediatric high grade glioma -1.100 0.001
ulcerative colitis -2.800 0.001
facioscapulohumeral dystrophy 2.400 0.000

 OMIM Term (1)

Gene RIF (42)

PMID Text
26837681 We found a novel mutation in the acceptor region in exon 1 (SLC3A1 gene) and detected a heterozygosity status for the described patients.
26540609 Five SLC3A1 and SLC7A9 mutations appear to be responsible for the genetic basis of cystinuria in the Greek-Cypriot patients
26537754 Deletion of the rBAT C-terminal disulfide loop (residues 673-685) prevented maturation and prompted degradation of the transporter.
26123750 M467T, T216M mutations not found in Iranian cystinuria patients
25964309 Report no association of SLC3A1 mutations with clinical course of disease in cystinuria patients.
24824759 We present a new pathogenic homozygous mutation, c.833T>C in exon 4 of SLC3A1 gene, in a girl with cystinuria, whose single symptom was an increasingly hyper-echogenic colon in the prenatal sonography as of 30 weeks of gestation.
24449952 RBAT gene products, as the primary cause of cystinuria, may function as activators of the amino acid transport system in renal brush border membrane.
24045899 We present six family members with a complex phenotypic profile of cystinuria based on mutations in SLC3A1 (type A) or SLC7A9 (type B).
23794250 Deletion of SLC3A1 is associated with Hypotonia-cystinuria syndrome.
22796000 Two novel deletions encompassing the SLC3A1 and PREPL genes have been identified in unrelated hypotonia-cystinuria syndrome patients.
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AA Sequence

MAEDKSKRDSIEMSMKGCQTNNGFVHNEDILEQTPDPGSSTDNLKHSTRGILGSQEPDFKGVQPYAGMPK      1 - 70
EVLFQFSGQARYRIPREILFWLTVASVLVLIAATIAIIALSPKCLDWWQEGPMYQIYPRSFKDSNKDGNG     71 - 140
DLKGIQDKLDYITALNIKTVWITSFYKSSLKDFRYGVEDFREVDPIFGTMEDFENLVAAIHDKGLKLIID    141 - 210
FIPNHTSDKHIWFQLSRTRTGKYTDYYIWHDCTHENGKTIPPNNWLSVYGNSSWHFDEVRNQCYFHQFMK    211 - 280
EQPDLNFRNPDVQEEIKEILRFWLTKGVDGFSLDAVKFLLEAKHLRDEIQVNKTQIPDTVTQYSELYHDF    281 - 350
TTTQVGMHDIVRSFRQTMDQYSTEPGRYRFMGTEAYAESIDRTVMYYGLPFIQEADFPFNNYLSMLDTVS    351 - 420
GNSVYEVITSWMENMPEGKWPNWMIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYYGEEIGMGNIV    421 - 490
AANLNESYDINTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDVQKTQPRSALKLYQDLSLLHA    491 - 560
NELLLNRGWFCHLRNDSHYVVYTRELDGIDRIFIVVLNFGESTLLNLHNMISGLPAKMRIRLSTNSADKG    561 - 630
SKVDTSGIFLDKGEGLIFEHNTKNLLHRQTAFRDRCFVSNRACYSSVLNILYTSC                   631 - 685
//

Text Mined References (63)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26837681 2016 A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria.
26540609 2015 Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population.
26537754 2016 The role of N-glycans and the C-terminal loop of the subunit rBAT in the biogenesis of the cystinuria-associated transporter.
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.
24824759 2014 Cystinuria in a girl presenting with a hyperechogenic colon detected by prenatal ultrasonography and a new SLC3A1 gene mutation (p.Phe278Ser).
24449952 1996 Role of rBAT gene products in cystinuria.
24045899 2014 Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup.
23794250 2013 Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.
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