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    B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group) [ Homo sapiens (human) ]

    Gene ID: 8706, updated on 10-Dec-2024

    Summary

    Official Symbol
    B3GALNT1provided by HGNC
    Official Full Name
    beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group)provided by HGNC
    Primary source
    HGNC:HGNC:918
    See related
    Ensembl:ENSG00000169255 MIM:603094; AllianceGenome:HGNC:918
    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
    P1; GLOB; GLCT3; galT3; Gb4Cer; B3GALT3; B3GALANT1; beta3Gal-T3
    Summary
    This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]
    Expression
    Broad expression in heart (RPKM 13.1), thyroid (RPKM 10.2) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See B3GALNT1 in Genome Data Viewer
    Location:
    3q26.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (161083883..161105349, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (163858620..163880089, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (160801671..160823137, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20763 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14861 Neighboring gene PPM1L divergent transcript Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1L Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20765 Neighboring gene Sharpr-MPRA regulatory region 1323 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14862 Neighboring gene MPRA-validated peak4889 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:160701588-160702158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20767 Neighboring gene uncharacterized LOC124909453 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14863 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14864 Neighboring gene uncharacterized LOC124906300 Neighboring gene uncharacterized LOC105374186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20768 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:160938841-160939342 Neighboring gene SRP14 pseudogene 5 Neighboring gene NMD3 ribosome export adaptor

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Blood group, globoside system
    MedGen: C3539121 OMIM: 615021 GeneReviews: Not available
    not available
    Blood group, P1PK system
    MedGen: C3549485 OMIM: 111400 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide association study of age at menarche in African-American women.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1
    Names
    P antigen synthase
    P blood group globoside
    UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)
    UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)
    UDP-N-acetylgalactosamine:globotriaosylceramide beta-1,3-N-acetylgalactosaminyltransferase
    b3Gal-T3
    beta-1,3-GalNAc-T1
    beta-1,3-GalTase 3
    beta-1,3-galactosyltransferase 3
    beta-3-Gx-T3
    brainiac1
    galactosylgalactosylglucosylceramide beta-D-acetyl-galactosaminyltransferase
    globoside synthase
    globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase
    NP_001033717.1
    NP_001336059.1
    NP_001336060.1
    NP_001336061.1
    NP_001336062.1
    NP_001336063.1
    NP_001336064.1
    NP_001336065.1
    NP_001336066.1
    NP_001336067.1
    NP_001336068.1
    NP_001336069.1
    NP_001336070.1
    NP_001336071.1
    NP_001336072.1
    NP_001336073.1
    NP_001336074.1
    NP_001336075.1
    NP_001336076.1
    NP_001336077.1
    NP_001336078.1
    NP_001336079.1
    NP_001336080.1
    NP_001336081.1
    NP_001336082.1
    NP_001336083.1
    NP_001336084.1
    NP_001336085.1
    NP_001336086.1
    NP_001336087.1
    NP_001336088.1
    NP_001336089.1
    NP_001336090.1
    NP_001336091.1
    NP_001336092.1
    NP_003772.1
    NP_149357.1
    NP_149358.1
    NP_149359.1
    XP_005247916.1
    XP_024309576.1
    XP_047305087.1
    XP_047305088.1
    XP_047305089.1
    XP_047305091.1
    XP_047305092.1
    XP_047305093.1
    XP_047305094.1
    XP_054204233.1
    XP_054204234.1
    XP_054204235.1
    XP_054204236.1
    XP_054204237.1
    XP_054204238.1
    XP_054204239.1
    XP_054204240.1

    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_007854.1 RefSeqGene

      Range
      5024..26490
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_820

    mRNA and Protein(s)

    1. NM_001038628.2NP_001033717.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      See identical proteins and their annotated locations for NP_001033717.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AB060691, AI093705, BC028571, DA188324
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000376532.2, ENST00000392781.7
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    2. NM_001349130.2NP_001336059.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000499180.1, ENST00000651791.1
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    3. NM_001349131.2NP_001336060.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    4. NM_001349132.2NP_001336061.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000498660.1, ENST00000652730.1
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    5. NM_001349133.2NP_001336062.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    6. NM_001349134.2NP_001336063.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000498346.1, ENST00000651686.1
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    7. NM_001349135.2NP_001336064.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    8. NM_001349136.2NP_001336065.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    9. NM_001349137.2NP_001336066.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000499072.1, ENST00000651380.1
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    10. NM_001349138.2NP_001336067.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    11. NM_001349139.2NP_001336068.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000498478.1, ENST00000651147.1
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    12. NM_001349140.2NP_001336069.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (18) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000498633.1, ENST00000651953.1
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    13. NM_001349141.2NP_001336070.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (19) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    14. NM_001349142.2NP_001336071.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (20) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    15. NM_001349143.2NP_001336072.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (21) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000499003.1, ENST00000651509.1
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    16. NM_001349144.2NP_001336073.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (22) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    17. NM_001349145.2NP_001336074.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (23) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000498689.1, ENST00000652111.1
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    18. NM_001349146.2NP_001336075.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (24) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000498542.1, ENST00000651292.1
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    19. NM_001349147.2NP_001336076.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (25) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000498369.1, ENST00000651460.1
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    20. NM_001349148.2NP_001336077.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (26) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000498481.1, ENST00000652377.1
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    21. NM_001349149.2NP_001336078.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (27) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    22. NM_001349150.2NP_001336079.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (28) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000499010.1, ENST00000651689.1
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    23. NM_001349151.2NP_001336080.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (29) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000498982.1, ENST00000651178.1
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    24. NM_001349152.2NP_001336081.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (30) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000498553.1, ENST00000651254.1
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    25. NM_001349153.2NP_001336082.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (31) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    26. NM_001349154.2NP_001336083.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (32) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    27. NM_001349155.2NP_001336084.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (33) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000498902.1, ENST00000650695.1
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    28. NM_001349156.2NP_001336085.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (34) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000498810.1, ENST00000652596.1
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    29. NM_001349157.2NP_001336086.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (35) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    30. NM_001349158.2NP_001336087.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (36) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    31. NM_001349159.2NP_001336088.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (37) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000498696.1, ENST00000652669.1
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    32. NM_001349160.1NP_001336089.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (38) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000418226.1, ENST00000473285.5
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    33. NM_001349161.2NP_001336090.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (39) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AC021649
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    34. NM_001349162.2NP_001336091.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) encodes the longer isoform (a). Variants 6 and 7 both encode the same isoform (a).
      Source sequence(s)
      AC021649
      Conserved Domains (1) summary
      pfam01762
      Location:212405
      Galactosyl_T; Galactosyltransferase
    35. NM_001349163.2NP_001336092.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) encodes the longer isoform (a). Variants 6 and 7 both encode the same isoform (a).
      Source sequence(s)
      AC021649
      Conserved Domains (1) summary
      pfam01762
      Location:212405
      Galactosyl_T; Galactosyltransferase
    36. NM_003781.4NP_003772.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      See identical proteins and their annotated locations for NP_003772.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AB060691, AI093705, AK022491, DA188324
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000323479.4, ENST00000320474.10
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    37. NM_033167.3NP_149357.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      See identical proteins and their annotated locations for NP_149357.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AB060691, AI093705, DA188324, DB172381
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000498854.1, ENST00000651117.1
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    38. NM_033168.3NP_149358.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      See identical proteins and their annotated locations for NP_149358.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AB060691, AI093705, AK022491, AK095917
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000376530.2, ENST00000392779.6
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    39. NM_033169.3NP_149359.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

      See identical proteins and their annotated locations for NP_149359.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) encodes isoform b. Variants 1-5 and 8-39 all encode the same isoform (b).
      Source sequence(s)
      AB050856, AB060691, AC021649, AI093705, AW151434
      Consensus CDS
      CCDS3193.1
      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000420163.1, ENST00000488170.5
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      161083883..161105349 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449138.1XP_047305094.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X2

    2. XM_005247859.6XP_005247916.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_005247916.1

      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000498901.1, ENST00000652032.1
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    3. XM_047449133.1XP_047305089.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Related
      ENSP00000498655.1, ENST00000652143.1
    4. XM_047449137.1XP_047305093.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
    5. XM_047449136.1XP_047305092.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
    6. XM_047449131.1XP_047305087.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
    7. XM_047449132.1XP_047305088.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
    8. XM_024453808.1XP_024309576.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
      Conserved Domains (1) summary
      pfam01762
      Location:92285
      Galactosyl_T; Galactosyltransferase
    9. XM_047449135.1XP_047305091.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      163858620..163880089 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348258.1XP_054204233.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
    2. XM_054348261.1XP_054204236.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
    3. XM_054348265.1XP_054204240.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
    4. XM_054348264.1XP_054204239.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
    5. XM_054348259.1XP_054204234.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
    6. XM_054348260.1XP_054204235.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
    7. XM_054348262.1XP_054204237.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4
    8. XM_054348263.1XP_054204238.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DNM4, O75752, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
      UniProtKB/TrEMBL
      Q49AT3, Q6RC00, Q7L9G8, R4X5Z4