B4galnt1 MGI Mouse Gene Detail - MGI:1342057 - beta-1,4-N-acetyl-galactosaminyl transferase 1

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

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

SNPs within 2kb

207 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (+)

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

HGNC:4117

NCBI Gene ID: 2583

neXtProt AC: NX_Q00973

UniProt: Q00973
Chr Location

12q13.3; chr12:57623409-57633239 (-) GRCh38

MGI Vertebrate Homology

B4galnt1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: B4GALNT1
Protein SuperFamily

GM2_GD2_synthase
Gene Tree

B4galnt1

Diseases

1 with human B4GALNT1 associations

				Human Disease	Mouse Models
				hereditary spastic paraplegia 26 IDs hereditary spastic paraplegia 26 DOID:0110777 ICD10CM:G11.4 OMIM:609195 ORDO:101006

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

3 phenotypes from 2 alleles in 2 genetic backgrounds
36 phenotypes from multigenic genotypes
3 images
73 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

5
Targeted

5
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

25 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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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.

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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

982
Tissues

136
cDNA Data

74
Literature Summary

8

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase b4galnt1

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All Sequences

67
RefSeq

21
UniProt

6
CCDS

CCDS24230.1

Ensembl

ENSMUSG00000006731 (Evidence)
NCBI Gene

14421

			Length	Strain/Species	Flank
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

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UniProt

6 Sequences
Protein Ontology

PR:000004601 beta-1,4 N-acetylgalactosaminyltransferase 1

(term hierarchy)
EC

2.4.1.92
InterPro Domains

IPR011143 Ganglioside GM2 synthase

IPR001173 Glycosyltransferase 2-like

IPR029044 Nucleotide-diphospho-sugar transferases
GlyGen

Q09200 3 sites, 2 N-linked glycans (2 sites)

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All nucleic 76

cDNA 75

Primer pair 1

Microarray probesets 5

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MGD-MRK-10061, MGD-MRK-10063, MGI:1918507, MGI:95703

Summaries

All 118

Developmental Gene Expression 8

Gene Ontology 9

Phenotypes 73
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

TSS for B4galnt1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr96142	Chr10:126999258-126999286 (+)	-1,822 bp
Tssr96143	Chr10:126999407-126999417 (+)	-1,682 bp
Tssr96144	Chr10:127000640-127000655 (+)	-446 bp
Tssr96145	Chr10:127000987-127001094 (+)	-53 bp
Tssr96146	Chr10:127001121-127001132 (+)	33 bp
Tssr96147	Chr10:127001161-127001172 (+)	73 bp
Tssr96148	Chr10:127001182-127001196 (+)	95 bp
Tssr96149	Chr10:127001209-127001232 (+)	127 bp
Tssr96150	Chr10:127001234-127001267 (+)	157 bp
Tssr96151	Chr10:127001268-127001271 (+)	176 bp
Tssr96152	Chr10:127001282-127001293 (+)	194 bp
Tssr96153	Chr10:127001371-127001372 (+)	278 bp
Tssr96154	Chr10:127001656-127001673 (+)	571 bp
Tssr96155	Chr10:127001674-127001691 (+)	589 bp
Tssr96156	Chr10:127001694-127001769 (+)	638 bp
Tssr96157	Chr10:127001893-127001912 (+)	809 bp
Tssr96158	Chr10:127002354-127002372 (+)	1,269 bp
Tssr96159	Chr10:127002557-127002569 (+)	1,469 bp
Tssr96160	Chr10:127003227-127003245 (+)	2,142 bp
Tssr96161	Chr10:127003353-127003375 (+)	2,270 bp
Tssr96162	Chr10:127003538-127003553 (+)	2,452 bp
Tssr96163	Chr10:127003640-127003654 (+)	2,553 bp
Tssr96164	Chr10:127006814-127006817 (+)	5,722 bp
Tssr96165	Chr10:127007901-127007915 (+)	6,814 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24