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

Gene ID: 2583, updated on 17-Feb-2024

Summary

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

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

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

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_001276468.2NP_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:223321
    WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
    pfam00535
    Location:225374
    Glycos_transf_2; Glycosyl transferase family 2
  2. NM_001276469.2NP_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_001413967.1NP_001400896.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025165
    UniProtKB/TrEMBL
    A0A1Z4EAV6
  4. NM_001413968.1NP_001400897.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025165
    UniProtKB/TrEMBL
    A0A1Z4EAV6
  5. NM_001413969.1NP_001400898.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025165
    UniProtKB/TrEMBL
    A0A1Z4EAV6
  6. NM_001413970.1NP_001400899.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025165
    UniProtKB/TrEMBL
    A0A1Z4EAV6
    Related
    ENST00000553142.5
  7. NM_001413971.1NP_001400900.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025165
    UniProtKB/TrEMBL
    A0A1Z4EAV6
  8. NM_001413972.1NP_001400901.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025165
    UniProtKB/TrEMBL
    A0A1Z4EAV6
  9. NM_001413973.1NP_001400902.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025165
    UniProtKB/Swiss-Prot
    B4DE26, Q00973, Q8N636
    UniProtKB/TrEMBL
    A0A1Z4EAV6
  10. NM_001413974.1NP_001400903.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025165
    UniProtKB/Swiss-Prot
    B4DE26, Q00973, Q8N636
    UniProtKB/TrEMBL
    A0A1Z4EAV6
  11. NM_001413977.1NP_001400906.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025165
    UniProtKB/TrEMBL
    A0A1Z4EAV6
  12. NM_001413978.1NP_001400907.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025165
    UniProtKB/TrEMBL
    A0A1Z4EAV6
  13. NM_001413979.1NP_001400908.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 8 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025165
    UniProtKB/TrEMBL
    B4DSP5
    Related
    ENSP00000473533.1, ENST00000449184.7
  14. NM_001413980.1NP_001400909.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 8 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025165
    UniProtKB/TrEMBL
    B4DSP5
  15. NM_001413981.1NP_001400910.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC025165
  16. NM_001413982.1NP_001400911.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC025165
  17. NM_001413983.1NP_001400912.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC025165
  18. NM_001413984.1NP_001400913.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC025165
  19. NM_001478.5NP_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:278376
    WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
    pfam00535
    Location:280429
    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_011538147.4XP_011536449.2  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X2

    UniProtKB/TrEMBL
    A0A1Z4EAV6
  2. XM_047428680.1XP_047284636.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X1

    UniProtKB/TrEMBL
    A0A1Z4EAV6
  3. XM_024448928.2XP_024304696.2  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X4

    UniProtKB/TrEMBL
    A0A1Z4EAV6
  4. XM_005268773.6XP_005268830.2  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X3

    UniProtKB/TrEMBL
    A0A1Z4EAV6
  5. XM_047428681.1XP_047284637.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X5

    UniProtKB/TrEMBL
    A0A1Z4EAV6
  6. XM_047428682.1XP_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_054371699.1XP_054227674.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X2

    UniProtKB/TrEMBL
    A0A1Z4EAV6
  2. XM_054371698.1XP_054227673.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X1

    UniProtKB/TrEMBL
    A0A1Z4EAV6
  3. XM_054371701.1XP_054227676.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X4

    UniProtKB/TrEMBL
    A0A1Z4EAV6
  4. XM_054371700.1XP_054227675.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X3

    UniProtKB/TrEMBL
    A0A1Z4EAV6
  5. XM_054371702.1XP_054227677.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X5

    UniProtKB/TrEMBL
    A0A1Z4EAV6
  6. XM_054371703.1XP_054227678.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X6