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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
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:69481491-69506293 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 32.24 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    790 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 Chr3:69481252-69506305 (-)
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
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    B3GALNT1, beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group)
  • Synonyms
    B3GALANT1, B3GALT3, beta3Gal-T3, galT3, Gb4Cer, GLCT3, GLOB, P1
  • Links
    NCBI Gene ID: 8706
    neXtProt AC: NX_O75752
    UniProt: O75752

  • Chr Location
    3q26.1; chr3:161083883-161105411 (-)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    3 phenotypes from 2 alleles in 2 genetic backgrounds
    13 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    10
  • GO References
    7
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    923
  • Tissues
    145
  • cDNA Data
    31
  • Literature Summary
    5
Sequences &
Gene Models
less
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 33
    cDNA 31
    Primer pair 2

    Microarray probesets 3
References
more
  • Summaries
    All 39
    Developmental Gene Expression 5
    Diseases 1
    Gene Ontology 7
    Phenotypes 13
  • 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:302829 Lu J, et al., Mouse models for human hyperuricaemia: a critical review. Nat Rev Rheumatol. 2019 Jul;15(7):413-426
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/05/2024
MGI 6.24 		The Jackson Laboratory