B3GALNT1 (beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group))
2014-11-01 AffiliationIdentity
HGNC
LOCATION
3q26.1
LOCUSID
ALIAS
B3GALT3,GLCT3,GLOB,Gb4Cer,P,P1,beta3Gal-T3,galT3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 8706
MIM: 603094
HGNC: 918
Ensembl: ENSG00000169255
Variants:
dbSNP: 8706
ClinVar: 8706
TCGA: ENSG00000169255
COSMIC: B3GALNT1
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 29873420 | 2019 | Multiple miscarriages in two sisters of Thai origin with the rare P(k) phenotype caused by a novel nonsense mutation at the B3GALNT1 locus. | 0 |
| 29873420 | 2019 | Multiple miscarriages in two sisters of Thai origin with the rare P(k) phenotype caused by a novel nonsense mutation at the B3GALNT1 locus. | 0 |
| 26037356 | 2015 | [A rare Pk phenotype caused by a 433 C>T mutation of the β-1,3-N-acetylgalactosyltransferase gene]. | 0 |
| 26055721 | 2015 | Identification of the Molecular and Genetic Basis of PX2, a Glycosphingolipid Blood Group Antigen Lacking on Globoside-deficient Erythrocytes. | 10 |
| 26037356 | 2015 | [A rare Pk phenotype caused by a 433 C>T mutation of the β-1,3-N-acetylgalactosyltransferase gene]. | 0 |
| 26055721 | 2015 | Identification of the Molecular and Genetic Basis of PX2, a Glycosphingolipid Blood Group Antigen Lacking on Globoside-deficient Erythrocytes. | 10 |
| 24782133 | 2014 | α-1,3-N-acetylgalactose aminotransferase gene 539G>C mutation leads to the A2B isoform. | 3 |
| 25521548 | 2014 | TINAGL1 and B3GALNT1 are potential therapy target genes to suppress metastasis in non-small cell lung cancer. | 25 |
| 24782133 | 2014 | α-1,3-N-acetylgalactose aminotransferase gene 539G>C mutation leads to the A2B isoform. | 3 |
| 25521548 | 2014 | TINAGL1 and B3GALNT1 are potential therapy target genes to suppress metastasis in non-small cell lung cancer. | 25 |
| 23927681 | 2013 | P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo-blood group systems. | 3 |
| 23927681 | 2013 | P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo-blood group systems. | 3 |
| 18839200 | 2009 | Variants of the melanocortin 1 receptor gene (MC1R) and P gene as indicators of the population origin of an individual. | 1 |
| 18839200 | 2009 | Variants of the melanocortin 1 receptor gene (MC1R) and P gene as indicators of the population origin of an individual. | 1 |
| 12023287 | 2002 | Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine: globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene. | 14 |
Citation
Dessen P
B3GALNT1 (beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group))
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60675/b3galnt1-(beta-1-3-n-acetylgalactosaminyltransferase-1-(globoside-blood-group))
