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B3galnt1 Gene Detail
Summary
  • Symbol
    B3galnt1
  • Name
    UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1
  • Synonyms
    B3galt3, Brainiac 1, Globoside blood group, Mbrn 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1349405
    NCBI Gene: 26879
  • Gene Overview
    MyGene.info: B3GALNT1
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:69574158-69598960 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 32.24 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    126 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1349405
protein coding gene Chr3:69573919-69598960 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027296
protein coding gene Chr3:68835414-68861947 (-)
A/J MGP_AJ_G0027258
protein coding gene Chr3:66766493-66791328 (-)
AKR/J MGP_AKRJ_G0027226
protein coding gene Chr3:68223454-68248340 (-)
BALB/cJ MGP_BALBcJ_G0027269
protein coding gene Chr3:66659632-66684633 (-)
C3H/HeJ MGP_C3HHeJ_G0027013
protein coding gene Chr3:68442963-68471516 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027715
protein coding gene Chr3:71422211-71456161 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025068
protein coding gene Chr3:63045002-63071423 (-)
CAST/EiJ MGP_CASTEiJ_G0026460
protein coding gene Chr3:68411180-68434102 (-)
CBA/J MGP_CBAJ_G0026988
protein coding gene Chr3:73611696-73636580 (-)
DBA/2J MGP_DBA2J_G0027124
protein coding gene Chr3:66270966-66296283 (-)
FVB/NJ MGP_FVBNJ_G0027092
protein coding gene Chr3:64897295-64923097 (-)
LP/J MGP_LPJ_G0027232
protein coding gene Chr3:69775172-69803970 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027111
protein coding gene Chr3:78194122-78227687 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027773
protein coding gene Chr3:68103146-68128612 (-)
PWK/PhJ MGP_PWKPhJ_G0026194
protein coding gene Chr3:66027065-66051908 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026010
protein coding gene Chr3:67187970-67212498 (-)
WSB/EiJ MGP_WSBEiJ_G0026538
protein coding gene Chr3:68241116-68266319 (-)



Homology
more
  • Human Ortholog
    B3GALNT1, beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
  • Vertebrate Orthologs
    8
  • Human Ortholog
    B3GALNT1, beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
    Orthology source: HGNC, HomoloGene
  • Synonyms
    B3GALT3, beta3Gal-T3, galT3, Gb4Cer, GLCT3, GLOB, P, P1
  • Links
    NCBI Gene ID: 8706
    neXtProt AC: NX_O75752
    UniProt: O75752

  • Chr Location
    3q26.1; chr3:161083883-161105528 (-)  GRCh38.p7

Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    3 phenotypes from 2 alleles in 2 genetic backgrounds
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
A homozygous null mutation of this gene results in embryonic lethality. Mice homozygous for a second allele appear normal.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000043300 Ensembl Gene Model | MGI Sequence Detail 24803 C57BL/6J ±  kb
transcript ENSMUST00000061826 Ensembl | MGI Sequence Detail 2028 Not Applicable  
polypeptide ENSMUSP00000058363 Ensembl | MGI Sequence Detail 331 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 32
    cDNA 31
    Primer pair 1

    Microarray probesets 3
References
more
  • Summaries
    All 35
    Developmental Gene Expression 5
    Diseases 1
    Gene Ontology 6
    Phenotypes 10
  • Earliest
    J:45045 Hennet T, et al., Genomic cloning and expression of three murine UDP-galactose: beta-N-acetylglucosamine beta1,3-galactosyltransferase genes. J Biol Chem. 1998 Jan 2;273(1):58-65
  • Latest
    J:265628 Gaudet P, et al., Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief Bioinform. 2011 Sep;12(5):449-62

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/04/2018
MGI 6.13
The Jackson Laboratory