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B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 2583, updated on 3-Apr-2024

Summary

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Official Symbol
B4GALNT1provided by HGNC
Official Full Name
beta-1,4-N-acetyl-galactosaminyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:4117
See related
Ensembl:ENSG00000135454 MIM:601873; AllianceGenome:HGNC:4117
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GALGT; SPG26; GALNACT; GalNAc-T
Summary
GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
Expression
Broad expression in brain (RPKM 8.2), endometrium (RPKM 1.8) and 16 other tissues See more
Orthologs
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Genomic context

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See B4GALNT1 in Genome Data Viewer
Location:
12q13.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57623409..57633201, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57591628..57601420, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58017192..58026984, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4586 Neighboring gene Rho guanine nucleotide exchange factor 25 Neighboring gene uncharacterized LOC101927583 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58013541-58014107 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58014245-58015064 Neighboring gene solute carrier family 26 member 10, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:58026214-58027175 Neighboring gene uncharacterized LOC124903112 Neighboring gene ribosomal protein L13a pseudogene 23

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis. Alecu JE, et al. Am J Med Genet A, 2022 Sep. PMID 35775650, Free PMC Article
  2. Does GD2 synthase (GD2S) detect cancer stem cells in blood samples of breast carcinomas? Mansoori M, et al. J Appl Biomed, 2021 Dec. PMID 34907737
  3. B4GALNT1 induces angiogenesis, anchorage independence growth and motility, and promotes tumorigenesis in melanoma by induction of ganglioside GM2/GD2. Yoshida H, et al. Sci Rep, 2020 Jan 27. PMID 31988291, Free PMC Article
  4. High GD2 expression defines breast cancer cells with enhanced invasiveness. Mansoori M, et al. Exp Mol Pathol, 2019 Aug. PMID 31075227
  5. Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia. Wakil SM, et al. Clin Genet, 2014 Nov. PMID 24283893

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) isozyme surface charge governs charge substrate preferences to modulate mucin type O-glycosylation.
    Title: Polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) isozyme surface charge governs charge substrate preferences to modulate mucin type O-glycosylation.
  2. B4GALNT1 promotes carcinogenesis by regulating epithelial-mesenchymal transition in hepatocellular carcinoma based on pan-cancer analysis.
    Title: B4GALNT1 promotes carcinogenesis by regulating epithelial-mesenchymal transition in hepatocellular carcinoma based on pan-cancer analysis.
  3. Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.
    Title: Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.
  4. Does GD2 synthase (GD2S) detect cancer stem cells in blood samples of breast carcinomas?
    Title: Does GD2 synthase (GD2S) detect cancer stem cells in blood samples of breast carcinomas?
  5. B4GALNT1 promotes progression and metastasis in lung adenocarcinoma through JNK/c-Jun/Slug pathway.
    Title: B4GALNT1 promotes progression and metastasis in lung adenocarcinoma through JNK/c-Jun/Slug pathway.
  6. B4GALNT1 enhanced tumorigenesis via induction of angiogenesis,ganglioside GM2/GD2 and cell motility.
    Title: B4GALNT1 induces angiogenesis, anchorage independence growth and motility, and promotes tumorigenesis in melanoma by induction of ganglioside GM2/GD2.
  7. Data suggest that GD2 synthase (GD2) can well be considered as a diagnostic and prognostic marker in breast cancer.
    Title: High GD2 expression defines breast cancer cells with enhanced invasiveness.
  8. High B4GALNT1 expression is associated with clear cell renal cell carcinoma metastasis.
    Title: Exploring the mechanism of clear cell renal cell carcinoma metastasis and key genes based on multi-tool joint analysis.
  9. Sp1 or HDAC1 knock down increased GM2-synthase transcription, and butyrate-mediated activation of GM2-synthase mRNA expression in SK-RC-45 cells was accompanied by Sp1 and HDAC1 loss from the +38/+187 region. Taken together, we have identified an epigenetic mechanism for the de-repression of the GM2-synthase gene in RCC.
    Title: Elevated histone H3 acetylation and loss of the Sp1-HDAC1 complex de-repress the GM2-synthase gene in renal cell carcinoma.
  10. Since the nineties, mice lacking genes for single glycosyltransferases involved in ganglioside biosynthesis, including ST3GAL5 and B4GALNT1, were created and studied. The resulting phenotypes were frequently mild or very mild, so double knock-out animals were created to effectively study the function of gangliosides
    Title: Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation.
Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hereditary spastic paraplegia 26
MedGen: C1836632 OMIM: 609195 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables acetylgalactosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in carbohydrate metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in determination of adult lifespan IEA
Inferred from Electronic Annotation
more info
  
involved_in ganglioside biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ganglioside biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in ganglioside biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in limb development IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid glycosylation IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid storage IEA
Inferred from Electronic Annotation
more info
  
involved_in motor behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in nerve development IEA
Inferred from Electronic Annotation
more info
  
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in vacuole organization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in Golgi membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
beta-1,4 N-acetylgalactosaminyltransferase 1
Names
GD2 synthase, GM2 synthase
GM2/GD2 synthase
UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1
UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)
beta-1,4-N-acetyl-galactosaminyl transferase 1
beta1,4GalNAc-T
NP_001263397.1
NP_001263398.1
NP_001400896.1
NP_001400897.1
NP_001400898.1
NP_001400899.1
NP_001400900.1
NP_001400901.1
NP_001400902.1
NP_001400903.1
NP_001400906.1
NP_001400907.1
NP_001400908.1
NP_001400909.1
NP_001400910.1
NP_001400911.1
NP_001400912.1
NP_001400913.1
NP_001469.1
XP_005268830.2
XP_011536449.2
XP_024304696.2
XP_047284636.1
XP_047284637.1
XP_047284638.1
XP_054227673.1
XP_054227674.1
XP_054227675.1
XP_054227676.1
XP_054227677.1
XP_054227678.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033849.2 RefSeqGene

    Range
    5000..14792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001276468.2 → NP_001263397.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 2

    See identical proteins and their annotated locations for NP_001263397.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate exon in place of the first exon and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 13 both encode the same isoform (2).
    Source sequence(s)
    AC025165, AK293432, DA483728, M83651
    Consensus CDS
    CCDS61170.1
    UniProtKB/TrEMBL
    A0A1Z4EAV6
    Related
    ENSP00000401601.2, ENST00000418555.6
    Conserved Domains (2) summary
    COG0463
    Location:223 → 321
    WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
    pfam00535
    Location:225 → 374
    Glycos_transf_2; Glycosyl transferase family 2

  2. NM_001276469.2 → NP_001263398.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 3

    See identical proteins and their annotated locations for NP_001263398.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several 3' exons and has a 3' end that extends into an intron compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC025165, BC029828
    Consensus CDS
    CCDS61171.1
    UniProtKB/TrEMBL
    A8K0X5
    Related
    ENSP00000450303.1, ENST00000550764.5

  3. NM_001413967.1 → NP_001400896.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC025165

  4. NM_001413968.1 → NP_001400897.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC025165

  5. NM_001413969.1 → NP_001400898.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC025165

  6. NM_001413970.1 → NP_001400899.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC025165
    Related
    ENST00000553142.5

  7. NM_001413971.1 → NP_001400900.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC025165

  8. NM_001413972.1 → NP_001400901.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC025165

  9. NM_001413973.1 → NP_001400902.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC025165
    UniProtKB/Swiss-Prot
    B4DE26, Q00973, Q8N636

  10. NM_001413974.1 → NP_001400903.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC025165
    UniProtKB/Swiss-Prot
    B4DE26, Q00973, Q8N636

  11. NM_001413977.1 → NP_001400906.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC025165

  12. NM_001413978.1 → NP_001400907.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC025165

  13. NM_001413979.1 → NP_001400908.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC025165
    Related
    ENSP00000473533.1, ENST00000449184.7

  14. NM_001413980.1 → NP_001400909.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC025165

  15. NM_001413981.1 → NP_001400910.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC025165

  16. NM_001413982.1 → NP_001400911.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC025165

  17. NM_001413983.1 → NP_001400912.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC025165

  18. NM_001413984.1 → NP_001400913.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC025165

  19. NM_001478.5 → NP_001469.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1

    See identical proteins and their annotated locations for NP_001469.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1. Variants 1, 10 and 11 all encode the same isoform (1).
    Source sequence(s)
    AC025165, AK299845, M83651
    Consensus CDS
    CCDS8950.1
    UniProtKB/Swiss-Prot
    B4DE26, Q00973, Q8N636
    UniProtKB/TrEMBL
    A0A1Z4EAV6
    Related
    ENSP00000341562.4, ENST00000341156.9
    Conserved Domains (2) summary
    COG0463
    Location:278 → 376
    WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
    pfam00535
    Location:280 → 429
    Glycos_transf_2; Glycosyl transferase family 2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    57623409..57633201 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538147.4 → XP_011536449.2  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X2

  2. XM_047428680.1 → XP_047284636.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X1

  3. XM_024448928.2 → XP_024304696.2  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X4

  4. XM_005268773.6 → XP_005268830.2  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X3

  5. XM_047428681.1 → XP_047284637.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X5

  6. XM_047428682.1 → XP_047284638.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    57591628..57601420 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371699.1 → XP_054227674.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X2

  2. XM_054371698.1 → XP_054227673.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X1

  3. XM_054371701.1 → XP_054227676.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X4

  4. XM_054371700.1 → XP_054227675.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X3

  5. XM_054371702.1 → XP_054227677.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X5

  6. XM_054371703.1 → XP_054227678.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q00973.2 GenPept UniProtKB/Swiss-Prot:Q00973

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