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B4galt1 Gene Detail
Summary
  • Symbol
    B4galt1
  • Name
    UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
  • Synonyms
    b1,4-Galactosyltransferase I, B-1,4-GalT1, beta 1,4-Galactosyltransferase I, beta-1,4-GalT1, GalT, Ggtb, Ggtb2
  • Feature Type
    protein coding gene
  • IDs
    MGI:95705
    NCBI Gene: 14595
  • Gene Overview
    MyGene.info: B4GALT1
Location & Maps
more
  • Sequence Map
    Chr4:40804602-40854005 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      49404 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    B4GALT1, beta-1,4-galactosyltransferase 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    B4GALT1, beta-1,4-galactosyltransferase 1
    Orthology source: HomoloGene
  • Synonyms
    B4GAL-T1, beta4Gal-T1, CDG2D, GGTB2, GT1, GTB
  • Links
    NCBI Gene ID: 2683
    neXtProt AC: NX_P15291

  • Chr Location
    9p13; chr9:33110637-33167358 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human B4GALT1 associations

Human Disease Mouse Models
       Congenital Disorder of Glycosylation, Type Iid; CDG2D   OMIM: 607091
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    70 phenotypes from 4 alleles in 3 genetic backgrounds
    22 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    57
  • Chemically and radiation induced
    1
  • Gene trapped
    49
  • Targeted
    7
  • Genomic Mutations
    1 involving B4galt1
  • Incidental Mutations
    APF , CvDC
Homozygotes for targeted null mutations exhibit growth retardation, low viability, excessive epithelial cell proliferation of skin and small intestine, sperm with reduced fertilizing capacity, birthing difficulty, and mammary gland defects.
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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 OTTMUSG00000006610 VEGA Gene Model | MGI Sequence Detail 49404 C57BL/6J ±  kb
transcript OTTMUST00000015075 VEGA | MGI Sequence Detail 3983 Not Applicable  
polypeptide OTTMUSP00000006967 VEGA | MGI Sequence Detail 399 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    143 from dbSNP Build 142
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 181
    Genomic 1
    cDNA 177
    Primer pair 2
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-10067, MGI:2140118, MGI:891991
References
more
  • Summaries
    All 86
    Developmental Gene Expression 5
    Gene Ontology 23
    Phenotypes 22
  • Earliest
    J:8592 Shaper NL, et al., The gene for galactosyltransferase maps to mouse chromosome 4. Cytogenet Cell Genet. 1987;44(1):18-21
  • Latest
    J:217719 Orr SL, et al., A phenotype survey of 36 mutant mouse strains with gene-targeted defects in glycosyltransferases or glycan-binding proteins. Glycobiology. 2013 Mar;23(3):363-80

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
04/26/2016
MGI 6.03
The Jackson Laboratory