beta-1,4-N-acetyl-galactosaminyltransferase 1

Summary
Gene Symbol
  • B4GALNT1
Aliases
  • GD2 synthase, GM2 synthase
  • beta1-4GalNAc-T
Organism
Homo sapiens (human)
NCBI Gene
2583
GGDB ID
HGNC
4117
mRNA
map
  • 12q13.3
Protein
OMIM
KEGG Gene ID
hsa:2583
PubChem
2583
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Glycosyltransferase
  • Golgi apparatus
  • Hereditary spastic paraplegia
  • Proteomics identification
  • Reference proteome
  • Signal
  • Signal-anchor
  • Sphingolipid metabolism
  • Transferase
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
B4DSP5
Q00973
  • (N-acetylneuraminyl)-galactosylglucosylceramide
  • GM2/GD2 synthase
  • GalNAc-T
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Galactosyltransferase
Functional Category
  • K: Transcription
  • M: Cell wall/membrane/envelope biogenesis
  • T: Signal transduction mechanisms
Displaying all 2 entries
Gene Ontology
hexosyltransferase activity
transferase activity
Displaying 1 entry
InterPro
Glycosyl transferase, family 31
Human Protein Atlas
ENSG00000135454

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

GlycoGene Database (GGDB)
GGDB ID
gg104
Gene Symbol
  • B4GALNT1
Reactions
Displaying all 2 entries
Donor Acceptor Reducing terminal(Acceptor) Product Reducing terminal(Product) Reference
UDP-GalNAc
G91237TK
Cer
G79389NT
Cer
UDP-GalNAc
G84224TW
Cer
G90562PB
Cer
Displaying all 5 entries
Donor Acceptor Reducing terminal(Acceptor) Product Reducing terminal(Product) Reference
UDP-GalNAc
G91237TK
Cer
G79389NT
Cer
UDP-GalNAc
G01767JJ
Cer
G13224CR
Cer
UDP-GalNAc
G98544DH
Cer
G02657AK
Cer
UDP-GalNAc
G84224TW
Cer
G90562PB
Cer
UDP-GalNAc
G75789AR
Cer
G56478LD
Cer
Displaying all 5 entries
Donor Acceptor Reducing terminal(Acceptor) Reference
UDP-GalNAc
G71142DF
Cer
UDP-GalNAc
G40183QN
Cer
UDP-GalNAc
G03361KC
Cer
UDP-GalNAc
G65889KE
Cer
UDP-GalNAc
G46677TE
Cer
Orthologous Gene
Displaying all 2 entries
Species Protein mRNA
Rattus norvegicus NP_074051 NM_022860
Mus musculus NP_032106 NM_008080
KEGG BRITE Database
Orthology
K00725
Name
(N-Acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase [EC:2.4.1.92]
References
Reactions
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0110777 hereditary spastic paraplegia 26
The Human Phenotype Ontology
Displaying entries 1 - 10 of 41 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000012 Urinary urgency
HP:0000079 Abnormality of the urinary system
HP:0000518 Cataract
HP:0000639 Nystagmus
HP:0000712 Emotional lability
HP:0001249 Intellectual disability
HP:0001251 Ataxia
HP:0001256 Intellectual disability, mild
HP:0001258 Spastic paraplegia
Displaying all 2 entries
Disease ID Disease Name
OMIM:609195
  • hereditary spastic paraplegia 26
ORPHA:101006
  • hereditary spastic paraplegia 26
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002758
Gene Name
beta-1,4-N-acetyl-galactosaminyl transferase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025