Property Summary

NCBI Gene PubMed Count 17
Grant Count 30
R01 Count 26
Funding $2,759,608.13
PubMed Score 124.51
PubTator Score 45.33

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
malignant mesothelioma -1.200 0.000
intraductal papillary-mucinous adenoma (... 1.100 0.000
lung cancer -1.500 0.011

Gene RIF (3)

PMID Text
24379646 A novel mutation (c.1042G>A) at exon 7 of BFSP1, which creates a substitution of an aspartate to an asparagine (p.D348N) was identified to be associated with autosomal dominant congenital cataract in a Chinese family.
24319337 The crystallin beta cluster on chromosome 22, GJA3, and BFSP1 play a major role in maintaining lens transparency.
17225135 This is the first report of a mutation in the BFSP1 gene associated with human inherited cataracts.

AA Sequence

MYRRSYVFQTRKEQYEHADEASRAAEPERPADEGWAGATSLAALQGLGERVAAHVQRARALEQRHAGLRR      1 - 70
QLDAFQRLGELAGPEDALARQVESNRQRVRDLEAERARLERQGTEAQRALDEFRSKYENECECQLLLKEM     71 - 140
LERLNKEADEALLHNLRLQLEAQFLQDDISAAKDRHKKNLLEVQTYISILQQIIHTTPPASIVTSGMREE    141 - 210
KLLTEREVAALRSQLEEGREVLSHLQAQRVELQAQTTTLEQAIKSAHECYDDEIQLYNEQIETLRKEIEE    211 - 280
TERVLEKSSYDCRQLAVAQQTLKNELDRYHRIIEIEGNRLTSAFIETPIPLFTQSHGVSLSTGSGGKDLT    281 - 350
RALQDITAAKPRQKALPKNVPRRKEIITKDKTNGALEDAPLKGLEDTKLVQVVLKEESESKFESESKEVS    351 - 420
PLTQEGAPEDVPDGGQISKGFGKLYRKVKEKVRSPKEPETPTELYTKERHVLVTGDANYVDPRFYVSSIT    421 - 490
AKGGVAVSVAEDSVLYDGQVEPSPESPKPPLENGQVGLQEKEDGQPIDQQPIDKEIEPDGAELEGPEEKR    491 - 560
EGEERDEESRRPCAMVTPGAEEPSIPEPPKPAADQDGAEVLGTRSRSLPEKGPPKALAYKTVEVVESIEK    561 - 630
ISTESIQTYEETAVIVETMIGKTKSDKKKSGEKSS                                       631 - 665
//

Text Mined References (18)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
24379646 2013 A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family.
24319337 2013 Molecular and structural analysis of genetic variations in congenital cataract.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17225135 2007 Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.
10909854 2000 An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12.
9787085 1998 Isolation of the human beaded-filament structural protein 1 gene (BFSP1) and assignment to chromosome 20p11.23-p12.1.
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