ENSG00000169255


Homo sapiens

Features
Gene ID: ENSG00000169255
  
Biological name :B3GALNT1
  
Synonyms : B3GALNT1 / beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) / O75752
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: q26.1
Gene start: 161083883
Gene end: 161105384
  
Corresponding Affymetrix probe sets: 211379_x_at (Human Genome U133 Plus 2.0 Array)   211812_s_at (Human Genome U133 Plus 2.0 Array)   223374_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000417053
Ensembl peptide - ENSP00000407027
Ensembl peptide - ENSP00000417643
Ensembl peptide - ENSP00000420604
Ensembl peptide - ENSP00000420163
Ensembl peptide - ENSP00000420059
Ensembl peptide - ENSP00000419476
Ensembl peptide - ENSP00000419127
Ensembl peptide - ENSP00000418567
Ensembl peptide - ENSP00000418226
Ensembl peptide - ENSP00000323479
Ensembl peptide - ENSP00000376530
Ensembl peptide - ENSP00000376532
NCBI entrez gene - 8706     See in Manteia.
OMIM - 603094
RefSeq - XM_017007412
RefSeq - NM_001038628
RefSeq - NM_001349134
RefSeq - NM_001349138
RefSeq - NM_001349140
RefSeq - NM_001349142
RefSeq - NM_001349154
RefSeq - NM_001349160
RefSeq - NM_001349161
RefSeq - NM_003781
RefSeq - NM_033167
RefSeq - NM_033168
RefSeq - NM_033169
RefSeq - XM_005247859
RefSeq - XM_005247861
RefSeq - XM_005247862
RefSeq - XM_005247864
RefSeq - XM_006713803
RefSeq - XM_006713804
RefSeq - XM_006713805
RefSeq - XM_017007402
RefSeq - XM_017007403
RefSeq - XM_017007404
RefSeq - XM_017007405
RefSeq - XM_017007406
RefSeq - XM_017007407
RefSeq - XM_017007408
RefSeq - XM_017007409
RefSeq - XM_017007410
RefSeq - XM_017007411
RefSeq Peptide - NP_001336078
RefSeq Peptide - NP_001336069
RefSeq Peptide - NP_001336070
RefSeq Peptide - NP_001336071
RefSeq Peptide - NP_001336072
RefSeq Peptide - NP_001336073
RefSeq Peptide - NP_001336074
RefSeq Peptide - NP_001336075
RefSeq Peptide - NP_001336076
RefSeq Peptide - NP_001336077
RefSeq Peptide - NP_001336068
RefSeq Peptide - NP_001336079
RefSeq Peptide - NP_001336080
RefSeq Peptide - NP_001336081
RefSeq Peptide - NP_001336082
RefSeq Peptide - NP_001336083
RefSeq Peptide - NP_001336084
RefSeq Peptide - NP_001336059
RefSeq Peptide - NP_001336060
RefSeq Peptide - NP_001336061
RefSeq Peptide - NP_001336062
RefSeq Peptide - NP_001336063
RefSeq Peptide - NP_001336064
RefSeq Peptide - NP_001336065
RefSeq Peptide - NP_001336066
RefSeq Peptide - NP_001336067
RefSeq Peptide - NP_001336085
RefSeq Peptide - NP_001336086
RefSeq Peptide - NP_001336087
RefSeq Peptide - NP_001336088
RefSeq Peptide - NP_001336089
RefSeq Peptide - NP_001336090
RefSeq Peptide - NP_003772
RefSeq Peptide - NP_149357
RefSeq Peptide - NP_149358
RefSeq Peptide - NP_149359
RefSeq Peptide - NP_001033717
swissprot - E7EVS2
swissprot - E7EVF0
swissprot - C9JXR0
swissprot - C9JRV6
swissprot - C9JD16
swissprot - C9J8U7
swissprot - C9J6I7
swissprot - O75752
swissprot - C9J0F8
Ensembl - ENSG00000169255
  
Related genetic diseases (OMIM): 111400 - [Blood group, P1PK system, P(k) phenotype], 111400
  615021 - [Blood group, globoside system], 615021
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Q920V1ENSMUSG00000043300Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9Y2C3 / B3GALT5 / beta-1,3-galactosyltransferase 5ENSG0000018377834
Q9Y5Z6 / B3GALT1 / beta-1,3-galactosyltransferase 1ENSG0000017231831
O43825 / B3GALT2 / beta-1,3-galactosyltransferase 2ENSG0000016263031
B3GNT4 / Q9C0J1 / UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4ENSG0000017638328
O96024 / B3GALT4 / beta-1,3-galactosyltransferase 4ENSG0000023586327
B3GNT7 / Q8NFL0 / UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7ENSG0000015696627
A8MXE2 / B3GNT10 / UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 10 (putative)ENSG0000021465426
B3GNT2 / Q9NY97 / UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2ENSG0000017034025
B3GNT9 / Q6UX72 / UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9ENSG0000023717225
B3GNT5 / Q9BYG0 / UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5ENSG0000017659724
B3GNT6 / Q6ZMB0 / UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6ENSG0000019848824
B3GNT3 / Q9Y2A9 / UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3ENSG0000017991324
B3GNT8 / Q7Z7M8 / UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8ENSG0000017719123


Protein motifs (from Interpro)
Interpro ID Name
 IPR002659  Glycosyl transferase, family 31


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006486 protein glycosylation IEA
 biological_processGO:0006687 glycosphingolipid metabolic process TAS
 biological_processGO:0009312 oligosaccharide biosynthetic process IEA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0008378 galactosyltransferase activity IEA
 molecular_functionGO:0008499 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0047273 galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity TAS


Pathways (from Reactome)
Pathway description
Glycosphingolipid metabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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