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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
    mouse all
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    Genomic context

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    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

    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
    		Compare labs

    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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