Property Summary

NCBI Gene PubMed Count 15
Grant Count 5
Funding $269,192.75
PubMed Score 0.00
PubTator Score 4.19

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -1.851 0.000

Gene RIF (2)

PMID Text
20460622 Observational study, meta-analysis, and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16385460 A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).

AA Sequence

MASQGRRRRPLRRPETVVPGEATETDSERSASSSEEEELYLGPSGPTRGRPTGLRVAGEAAETDSEPEPE      1 - 70
PEPTAAPRDLPPLVVQRESAEEAWGTEEAPAPAPARSLLQLRLAESQARLDHDVAAAVSGVYRRAGRDVA     71 - 140
ALASRLAAAQAAGLAAAHSVRLARGDLCALAERLDIVAGCRLLPDIRGVPGTEPEKDPGPRA            141 - 202
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Text Mined References (22)

PMID Year Title
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22709368 2012 A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.
22203680 2012 Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1).
20460622 2010 Genome-wide analysis of genetic loci associated with Alzheimer disease.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19197348 2009 Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
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