Property Summary

NCBI Gene PubMed Count 19
PubMed Score 67.57
PubTator Score 49.88

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
malignant mesothelioma 3.800 2.6e-08
astrocytic glioma -1.400 1.2e-03
posterior fossa group A ependymoma -2.200 4.3e-13
oligodendroglioma -1.200 1.3e-02
glioblastoma -1.700 2.6e-07
osteosarcoma 1.729 1.1e-05
medulloblastoma -1.600 4.4e-06
atypical teratoid / rhabdoid tumor -1.800 8.4e-09
medulloblastoma, large-cell -1.800 1.1e-06
primitive neuroectodermal tumor -1.100 3.1e-03
lung cancer 2.000 5.3e-03
pediatric high grade glioma -1.400 3.4e-05
pilocytic astrocytoma -1.100 6.5e-04
pituitary cancer 1.300 2.9e-05

Gene RIF (8)

PMID Text
24283893 Novel B4GALNT1 mutations reported in two families with hereditary spastic paraplegia.
24103911 The resukts of this study identified mutations in B4GALNT1 (GM2 synthase), encoding the enzyme that catalyzes the second step in complex ganglioside biosynthesis, as the cause of this neurodegenerative phenotype.
23721779 Minimally disseminated disease in high risk retinoblastoma patients was detected using reverse transcriptase PCR for GD2 synthase mRNA in CSF.
21135695 Molecular upstaging of GalNAc-T using rt-pcr was correlated with prognosis in melanoma patients
19457569 GD2/GM2 is not a reliable biomarker in small cell lung carcinoma
19318031 Transmission disequilibrium test and case-control analysis did not detect an association of B4GALNT1 gene with T1DM.
19318031 Observational study of gene-disease association. (HuGE Navigator)
17119850 The expression of three messengers coding for SAT-1, SAT-2 and GalNAcT-1 in human samples of intestinal cancer and some cell lines (breast cancer and melanomas), was evaluated.

AA Sequence

MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQ      1 - 70
VVGLLAWNNCSCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAP     71 - 140
ANSPLQYPLQGVEVQPLRSILVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVS    141 - 210
PGLDQLNRQLQLVTYSSRSYQTNTADTVRFSTEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVT    211 - 280
IATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERVSGPYVEHYLMPFGKGWFAGRNLAVSQVTTK    281 - 350
YVLWVDDDFVFTARTRLERLVDVLERTPLDLVGGAVREISGFATTYRQLLSVEPGAPGLGNCLRQRRGFH    351 - 420
HELVGFPGCVVTDGVVNFFLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKLP    421 - 490
WTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ                               491 - 533
//

Text Mined References (22)

PMID Year Title
24283893 2014 Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia.
24103911 2013 Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.
23746551 2013 Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
23721779 2013 Detection of minimally disseminated disease in the cerebrospinal fluid of children with high-risk retinoblastoma by reverse transcriptase-polymerase chain reaction for GD2 synthase mRNA.
21135695 2011 Molecular upstaging based on paraffin-embedded sentinel lymph nodes: ten-year follow-up confirms prognostic utility in melanoma patients.
19457569 2010 Analysis of GD2/GM2 synthase mRNA as a biomarker for small cell lung cancer.
19318031 2009 Glycosyltransferase B4GALNT1 and type 1 diabetes in Croatian population: clinical investigation.
17119850 2007 Evaluation of SAT-1, SAT-2 and GalNAcT-1 mRNA in colon cancer by real-time PCR.
16541075 2006 The finished DNA sequence of human chromosome 12.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15635080 2005 A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11018043 2000 Disulfide bonds of GM2 synthase homodimers. Antiparallel orientation of the catalytic domains.
10978536 2000 Brain-specific expression of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T9).
10477274 1999 GA2/GM2/GD2 synthase localizes to the trans-golgi network of CHO-K1 cells.
8824296 1996 Beta1,4-N-acetylgalactosaminyltransferase (GM2 synthase) is released from Golgi membranes as a neuraminidase-sensitive, disulfide-bonded dimer by a cathepsin D-like protease.
8702839 1996 Genomic organization and chromosomal assignment of the human beta1, 4-N-acetylgalactosaminyltransferase gene. Identification of multiple transcription units.
8690719 1995 cDNA cloning, expression, and chromosomal localization of a human UDP-GalNAc:polypeptide, N-acetylgalactosaminyltransferase.
8120069 1994 Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides.
1601877 1992 Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides.