Property Summary

NCBI Gene PubMed Count 18
PubMed Score 10.05
PubTator Score 4.43

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
malignant mesothelioma -1.900 0.000
psoriasis 1.100 0.001
non-small cell lung cancer -1.203 0.000
lung adenocarcinoma -1.700 0.000

Synonym

Accession Q9H7P6 Q8N6S7
Symbols C9orf28
FAM125B

Gene

PDB

3TOW  

 GO Function (1)

Gene RIF (9)

PMID Text
24518671 Study suggests a novel association between SNPs in FAM125B andintra-ocular pressure in the TwinsUK cohort.
23895345 GST-fused NCp6 fragment binds ESCRT-I subunits such as MVB12B, VPS37B, VPS28, and TSG101
23895345 GST-fused NCp6 fragment binds ESCRT-I subunits such as MVB12B, VPS37B, VPS28, and TSG101
23895345 GST-fused NCp6 fragment binds ESCRT-I subunits such as MVB12B, VPS37B, VPS28, and TSG101
22232651 The 1.3-A atomic resolution crystal structure of the MVB12B MABP domain reveals a beta-prism fold, a hydrophobic membrane-anchoring loop, and an electropositive phosphoinositide-binding patch.
20654576 These results suggest that the expression of MVB12B may be normally suppressed through the ubiquitin-proteasome pathway that simultaneously regulates the fate of MVB12A and the functions of ESCRT-I.
20583170 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
18005716 GST-fused NCp6 fragment binds ESCRT-I subunits such as MVB12B, VPS37B, VPS28, and TSG101

AA Sequence

MRSCFCVRRSRDPPPPQPPPPPPQRGTDQSTMPEVKDLSEALPETSMDPITGVGVVASRNRAPTGYDVVA      1 - 70
QTADGVDADLWKDGLFKSKVTRYLCFTRSFSKENSHLGNVLVDMKLIDIKDTLPVGFIPIQETVDTQEVA     71 - 140
FRKKRLCIKFIPRDSTEAAICDIRIMGRTKQAPPQYTFIGELNSMGIWYRMGRVPRNHDSSQPTTPSQSS    141 - 210
AASTPAPNLPRHISLTLPATFRGRNSTRTDYEYQHSNLYAISAMDGVPFMISEKFSCVPESMQPFDLLGI    211 - 280
TIKSLAEIEKEYEYSFRTEQSAAARLPPSPTRCQQIPQS                                   281 - 319
//

Text Mined References (18)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
24518671 2014 A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22232651 2012 Structural basis for membrane targeting by the MVB12-associated ?-prism domain of the human ESCRT-I MVB12 subunit.
20654576 2010 Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications.
20583170 2010 Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18005716 2007 Identification of human MVB12 proteins as ESCRT-I subunits that function in HIV budding.
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