Property Summary

NCBI Gene PubMed Count 12
Grant Count 14
R01 Count 8
Funding $1,073,075.34
PubMed Score 52.63
PubTator Score 25.48

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Gene RIF (7)

PMID Text
26751406 529 adults (n = 325 European-Americans, 204 Egyptians) on a stable warfarin dose were genotyped for GGCX rs12714145 and rs10654848, FPGS rs7856096, and STX1B rs4889606.
26224037 Findings suggested that STX1B rs4889603, FAM47E rs6812193 and SCARB2 rs6825004 do not confer a significant risk for Parkinson's disease
25534083 The data of this study suggested that the STX1B polymorphisms are associated with Parkinson disease etiology.
25362483 STX1B and the presynaptic release machinery may have a role in fever-associated epilepsy syndromes
25101798 Data indicate that single nucleotide polymorphism (SNPS) in the 3'-untranslated region of the fucosyltransferase 1 (FUT1) gene and intron of the syntaxin 1B (STX1B) gene were the top hits for Kawasaki disease (KD) susceptibility.
22360420 A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
18691641 The STX1B-Delta transmembrane domain is characterized as the first nucleoplasmic syntaxin with no transmembrane domain.

AA Sequence

MKDRTQELRSAKDSDDEEEVVHVDRDHFMDEFFEQVEEIRGCIEKLSEDVEQVKKQHSAILAAPNPDEKT      1 - 70
KQELEDLTADIKKTANKVRSKLKAIEQSIEQEEGLNRSSADLRIRKTQHSTLSRKFVEVMTEYNATQSKY     71 - 140
RDRCKDRIQRQLEITGRTTTNEELEDMLESGKLAIFTDDIKMDSQMTKQALNEIETRHNEIIKLETSIRE    141 - 210
LHDMFVDMAMLVESQGEMIDRIEYNVEHSVDYVERAVSDTKKAVKYQSKARRKKIMIIICCVVLGVVLAS    211 - 280
SIGGTLGL                                                                  281 - 288
//

Text Mined References (14)

PMID Year Title
26751406 2016 Impact of GGCX, STX1B and FPGS Polymorphisms on Warfarin Dose Requirements in European-Americans and Egyptians.
26224037 2015 No association of FAM47E rs6812193, SCARB2 rs6825004 and STX1B rs4889603 polymorphisms with Parkinson's disease in a Chinese Han population.
25534083 2015 The RIT2 and STX1B polymorphisms are associated with Parkinson's disease.
25362483 2014 Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
25101798 2014 High-density genotyping of immune loci in Kawasaki disease and IVIG treatment response in European-American case-parent trio study.
25064009 2014 Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
22360420 2012 Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
18691641 2008 Nuclear localization of a novel human syntaxin 1B isoform.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
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