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B4galnt1 Gene Detail
Summary
  • Symbol
    B4galnt1
  • Name
    beta-1,4-N-acetyl-galactosaminyl transferase 1
  • Synonyms
    4933429D13Rik, beta1,4GalNAC-T, Galgt1, Gal-NAc-T, GalNAc-T, GalNAcT, Ggm-2, Ggm2, GM2/GD2 synthase
  • Feature Type
    protein coding gene
  • IDs
    MGI:1342057
    NCBI Gene: 14421
  • Alliance
    gene page
  • Transcription Start Sites
    24 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:127001094-127008199 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 74.50 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    207 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1342057
 protein coding gene Chr10:127001025-127008209 (+)
129S1/SvImJ MGP_129S1SvImJ_G0017808
 protein coding gene Chr10:130746536-130753747 (+)
A/J MGP_AJ_G0017783
 protein coding gene Chr10:125510344-125517528 (+)
AKR/J MGP_AKRJ_G0017746
 protein coding gene Chr10:129225162-129232374 (+)
BALB/cJ MGP_BALBcJ_G0017747
 protein coding gene Chr10:125920923-125928107 (+)
C3H/HeJ MGP_C3HHeJ_G0017571
 protein coding gene Chr10:129366629-129373836 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018202
 protein coding gene Chr10:135182909-135190142 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015882
 protein coding gene Chr10:119518313-119525428 (+)
CAST/EiJ MGP_CASTEiJ_G0017131
 protein coding gene Chr10:130022411-130029589 (+)
CBA/J MGP_CBAJ_G0017540
 protein coding gene Chr10:140620676-140629750 (+)
DBA/2J MGP_DBA2J_G0017646
 protein coding gene Chr10:124603301-124610514 (+)
FVB/NJ MGP_FVBNJ_G0017641
 protein coding gene Chr10:123543040-123550247 (+)
LP/J MGP_LPJ_G0017720
 protein coding gene Chr10:131319029-131326221 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017669
 protein coding gene Chr10:143334666-143341875 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0018242
 protein coding gene Chr10:129285289-129292503 (+)
PWK/PhJ MGP_PWKPhJ_G0016916
 protein coding gene Chr10:124798744-124806029 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016708
 protein coding gene Chr10:128320986-128328151 (+)
WSB/EiJ MGP_WSBEiJ_G0017192
 protein coding gene Chr10:129509850-129518781 (+)



Homology
more
  • Human Ortholog
    B4GALNT1, beta-1,4-N-acetyl-galactosaminyltransferase 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    B4GALNT1, beta-1,4-N-acetyl-galactosaminyltransferase 1
  • Synonyms
    GALGT, GalNAc-T, GALNACT, SPG26
  • Links
    NCBI Gene ID: 2583
    neXtProt AC: NX_Q00973
    UniProt: Q00973

  • Chr Location
    12q13.3; chr12:57623409-57633239 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human B4GALNT1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    3 phenotypes from 2 alleles in 2 genetic backgrounds
    36 phenotypes from multigenic genotypes
    3 images
    71 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.
Mice homozygous for one knock-out allele lack all complex gangliosides but show normal brain histology and gross behavior with only subtle defects in neural conduction velocities. Mice homozygous for another knock-out allele exhibit male infertility due to degeneration of the seminiferous tubules.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    33
  • GO References
    9
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
    982
  • Tissues
    136
  • cDNA Data
    74
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000006731 Ensembl Gene Model | MGI Sequence Detail 7106 C57BL/6J ±  kb
    transcript ENSMUST00000006914 Ensembl | MGI Sequence Detail 2395 Not Applicable  
    polypeptide ENSMUSP00000006914 Ensembl | MGI Sequence Detail 533 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 76
      cDNA 75
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-10061, MGD-MRK-10063, MGI:1918507, MGI:95703
    References
    more
    • Summaries
      All 116
      Developmental Gene Expression 8
      Gene Ontology 9
      Phenotypes 71
    • Earliest
      J:7137 Hashimoto Y, et al., Genetic regulation of GM2 expression in liver of mouse. J Biochem. 1983 Mar;93(3):895-901
    • Latest
      J:349724 Sasaki I, et al., A stress sensor, IRE1alpha, is required for bacterial-exotoxin-induced interleukin-1beta production in tissue-resident macrophages. Cell Rep. 2024 Apr 23;43(4):113981
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory