B3galnt1 MGI Mouse Gene Detail - MGI:1349405 - UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1

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

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

SNPs within 2kb

790 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (-)

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

HGNC:918

NCBI Gene ID: 8706

neXtProt AC: NX_O75752

UniProt: O75752
Chr Location

3q26.1; chr3:161083883-161105411 (-) GRCh38

MGI Vertebrate Homology

B3galnt1 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: B3GALNT1
Gene Tree

B3galnt1

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References

1 with disease annotations

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Phenotype Summary

3 phenotypes from 2 alleles in 2 genetic backgrounds
13 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

11
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

4
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving B3galnt1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

22 strains or lines available

A homozygous null mutation of this gene results in embryonic lethality. Mice homozygous for a second allele appear normal.

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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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

39
RefSeq

8
UniProt

1
CCDS

CCDS17406.1

Ensembl

ENSMUSG00000043300 (Evidence)
NCBI Gene

26879

			Length	Strain/Species	Flank
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

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UniProt

1 Sequence
Protein Ontology

PR:000004581 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1

(term hierarchy)
EC

2.4.1.79
InterPro Domains

IPR002659 Glycosyl transferase, family 31
GlyGen

Q920V1 5 sites, 3 N-linked glycans (3 sites)

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All nucleic 33

cDNA 31

Primer pair 2

Microarray probesets 3

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

TSS for B3galnt1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr33555	Chr3:69506581-69506614 (-)	-305 bp
Tssr33554	Chr3:69506545-69506564 (-)	-262 bp
Tssr33553	Chr3:69506518-69506535 (-)	-234 bp
Tssr33552	Chr3:69506293-69506336 (-)	-22 bp
Tssr33551	Chr3:69506263-69506276 (-)	23 bp
Tssr33550	Chr3:69506209-69506262 (-)	57 bp
Tssr33549	Chr3:69506155-69506207 (-)	112 bp
Tssr33548	Chr3:69503624-69503627 (-)	2,667 bp
Tssr33547	Chr3:69503605-69503612 (-)	2,684 bp
Tssr33546	Chr3:69503575-69503579 (-)	2,716 bp
Tssr33545	Chr3:69495402-69495413 (-)	10,885 bp

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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