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

Gene ID: 2583, updated on 7-Dec-2018

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
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

Genomic context

See B4GALNT1 in Genome Data Viewer
Location:
12q13.3
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (57623409..57633239, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58019678..58027022, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Rho guanine nucleotide exchange factor 25 Neighboring gene uncharacterized LOC101927583 Neighboring gene solute carrier family 26 member 10 Neighboring gene ribosomal protein L13a pseudogene 23 Neighboring gene OS9, endoplasmic reticulum lectin

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
PubMed 
ganglioside biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
 
lipid glycosylation IEA
Inferred from Electronic Annotation
more info
 
lipid storage IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

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_001469.1
XP_005268830.1
XP_011536449.1
XP_016874629.1
XP_016874630.1
XP_016874631.1
XP_024304696.1
XP_024304697.1

NCBI Reference Sequences (RefSeq)

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_033849.1 RefSeqGene

    Range
    5001..12345
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    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.
    Source sequence(s)
    AK293432, DA483728, M83651
    Consensus CDS
    CCDS61170.1
    UniProtKB/Swiss-Prot
    Q00973
    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_001276469.1NP_001263398.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 3 precursor

    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, AK299845, BC029828
    Consensus CDS
    CCDS61171.1
    UniProtKB/Swiss-Prot
    Q00973
    UniProtKB/TrEMBL
    B4DSP5
    Related
    ENSP00000450303.1, ENST00000550764.5
  3. NM_001478.5NP_001469.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001469.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC025165, AK299845, M83651
    Consensus CDS
    CCDS8950.1
    UniProtKB/Swiss-Prot
    Q00973
    UniProtKB/TrEMBL
    B4DSP5
    Related
    ENSP00000341562.4, ENST00000341156.8
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    57623409..57633239 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268773.5XP_005268830.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X4

    Conserved Domains (2) summary
    COG0463
    Location:278376
    WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
    pfam00535
    Location:280382
    Glycos_transf_2; Glycosyl transferase family 2
  2. XM_017019140.2XP_016874629.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X2

  3. XM_011538147.3XP_011536449.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X3

    Conserved Domains (2) summary
    COG0463
    Location:284382
    WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
    pfam00535
    Location:286388
    Glycos_transf_2; Glycosyl transferase family 2
  4. XM_017019142.1XP_016874631.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X5

    UniProtKB/Swiss-Prot
    Q00973
    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
  5. XM_017019141.1XP_016874630.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X2

  6. XM_024448928.1XP_024304696.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X1

    Conserved Domains (1) summary
    pfam00535
    Location:286435
    Glycos_transf_2; Glycosyl transferase family 2
  7. XM_024448929.1XP_024304697.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X6

    Conserved Domains (1) summary
    cl11394
    Location:50197
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

RNA

  1. XR_002957307.1 RNA Sequence

    Related
    ENST00000553142.5
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