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

    Gene ID: 2583, updated on 3-Apr-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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)

    NEW Try the new Transcript table

    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

      Status: REVIEWED

      Source sequence(s)
      AC025165
    4. NM_001413968.1NP_001400897.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC025165
    5. NM_001413969.1NP_001400898.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC025165
    6. NM_001413970.1NP_001400899.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 6

      Status: REVIEWED

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

      Status: REVIEWED

      Source sequence(s)
      AC025165
    8. NM_001413972.1NP_001400901.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC025165
    9. NM_001413973.1NP_001400902.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1

      Status: REVIEWED

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

      Status: REVIEWED

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

      Status: REVIEWED

      Source sequence(s)
      AC025165
    12. NM_001413978.1NP_001400907.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC025165
    13. NM_001413979.1NP_001400908.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 8

      Status: REVIEWED

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

      Status: REVIEWED

      Source sequence(s)
      AC025165
    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

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

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

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

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

    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

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

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

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

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

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