Property Summary

NCBI Gene PubMed Count 21
PubMed Score 37.15
PubTator Score 34.78

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
osteosarcoma -1.379 1.1e-03
posterior fossa group B ependymoma 2.800 3.6e-08
tuberculosis -1.500 2.4e-04
interstitial cystitis -1.300 1.7e-02
group 4 medulloblastoma -1.300 7.3e-03
lung carcinoma -1.200 2.2e-18
ovarian cancer -1.300 1.9e-05

Gene RIF (13)

PMID Text
25544610 POFUT2 and B3GLCT mediate a noncanonical endoplasmic reticulum quality-control mechanism that recognizes folded thrombospondin type 1 repeats and stabilizes them by glycosylation.
23954224 a novel c.597-2 A>G splicing mutation within the B3GALTL gene in typical Peters-plus syndrome
23889335 Mutations in the coding region of B3GALTL were identified in nine patients; six had a documented phenotype of classic Peters plus syndrome (PPS) and the remaining three had a clinical diagnosis of PPS with incomplete clinical documentation.
22759511 A novel homozygous c.597-2A>G mutation was identified in both patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene
21671750 Vertebral defects in a patient with Peters plus syndrome and mutations in B3GALTL.
21067481 The present report confirms the wide clinical spectrum of Peters plus syndrome, underlines the major clinical criteria of the syndrome and the major implication of B3GALTL gene in this condition.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19796186 Novel B3GALTL mutation in Peters-plus Syndrome
18798333 two new mutant alleles, c.459 + 1G > A and c.230insT, were identified and predicted to result in truncated protein products; data confirm an important role for B3GALTL in causing typical Peters Plus syndrome
18199743 Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.(
16909395 Biallelic truncating mutations in the beta 1,3-galactosyltransferase-like gene (B3GALTL) in all 20 tested patients, showed that Peters Plus is a monogenic, primarily single-mutation syndrome.
16899492 We report here the molecular cloning and characterization of a novel beta1,3-glucosyltransferase (beta3Glc-T) that synthesizes a Glcbeta1,3Fucalpha- structure on the TSR domain.
12943678 B3GTL is transcribed in a wide range of tissues and has conserved domains and motifs

AA Sequence

MRPPACWWLLAPPALLALLTCSLAFGLASEDTKKEVKQSQDLEKSGISRKNDIDLKGIVFVIQSQSNSFH      1 - 70
AKRAEQLKKSILKQAADLTQELPSVLLLHQLAKQEGAWTILPLLPHFSVTYSRNSSWIFFCEEETRIQIP     71 - 140
KLLETLRRYDPSKEWFLGKALHDEEATIIHHYAFSENPTVFKYPDFAAGWALSIPLVNKLTKRLKSESLK    141 - 210
SDFTIDLKHEIALYIWDKGGGPPLTPVPEFCTNDVDFYCATTFHSFLPLCRKPVKKKDIFVAVKTCKKFH    211 - 280
GDRIPIVKQTWESQASLIEYYSDYTENSIPTVDLGIPNTDRGHCGKTFAILERFLNRSQDKTAWLVIVDD    281 - 350
DTLISISRLQHLLSCYDSGEPVFLGERYGYGLGTGGYSYITGGGGMVFSREAVRRLLASKCRCYSNDAPD    351 - 420
DMVLGMCFSGLGIPVTHSPLFHQARPVDYPKDYLSHQVPISFHKHWNIDPVKVYFTWLAPSDEDKARQET    421 - 490
QKGFREEL                                                                  491 - 498
//

Text Mined References (20)

PMID Year Title
25544610 2015 Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.
23954224 2013 First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome.
23889335 2014 Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.
23455636 2013 Seven new loci associated with age-related macular degeneration.
22759511 2012 Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure.
21671750 2011 Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL.
21067481 2010 A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19796186 2009 Novel B3GALTL mutation in Peters-plus Syndrome.
18798333 2008 Mutation analysis of B3GALTL in Peters Plus syndrome.
18199743 2008 Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.
17032646 2006 Identification and characterization of abeta1,3-glucosyltransferase that synthesizes the Glc-beta1,3-Fuc disaccharide on thrombospondin type 1 repeats.
16909395 2006 Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.
16899492 2006 Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15057823 2004 The DNA sequence and analysis of human chromosome 13.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12943678 2003 A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.