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    B3GALT9 beta-1,3-galactosyltransferase 9 [ Homo sapiens (human) ]

    Gene ID: 100288842, updated on 10-Dec-2024

    Summary

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    Official Symbol
    B3GALT9provided by HGNC
    Official Full Name
    beta-1,3-galactosyltransferase 9provided by HGNC
    Primary source
    HGNC:HGNC:53652
    See related
    Ensembl:ENSG00000214654 MIM:620239; AllianceGenome:HGNC:53652
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    B3GNT10
    Summary
    Predicted to enable glycosyltransferase activity. Predicted to be involved in protein O-linked glycosylation. Predicted to be located in Golgi apparatus and membrane. Predicted to be active in Golgi membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 2.0), testis (RPKM 1.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See B3GALT9 in Genome Data Viewer
    Location:
    9q33.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (120793467..120801787)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (132989627..132997948)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (123555745..123564065)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28893 Neighboring gene adenosylhomocysteinase pseudogene 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:123530344-123531012 Neighboring gene F-box and WD repeat domain containing 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:123555395-123556025 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28895 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:123587005-123587204 Neighboring gene proteasome 26S subunit, non-ATPase 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:123595637-123596180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:123603211-123603712 Neighboring gene Sharpr-MPRA regulatory regions 2033 and 13781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28897 Neighboring gene cutA divalent cation tolerance like, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. A phylogenetic view and functional annotation of the animal β1,3-glycosyltransferases of the GT31 CAZy family. Petit D, et al. Glycobiology, 2021 Apr 1. PMID 32886776, Free PMC Article
    2. Distinct class of putative "non-conserved" promoters in humans: comparative studies of alternative promoters of human and mouse genes. Tsuritani K, et al. Genome Res, 2007 Jul. PMID 17567985, Free PMC Article
    3. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Homology

    Clone Names

    • KIAA0072, DKFZp313O0129

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glycosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables hexosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein O-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    beta-1,3-galactosyltransferase 9
    Names
    UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 10 (putative)
    UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 pseudogene
    putative UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase LOC100288842
    putative UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase LOC402377

    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.

    mRNA and Protein(s)

    1. NM_001386823.1 → NP_001373752.1  beta-1,3-galactosyltransferase 9

      Status: VALIDATED

      Source sequence(s)
      AL161911
      Consensus CDS
      CCDS94472.1
      UniProtKB/Swiss-Prot
      A8MXE2
      Related
      ENSP00000508889.1, ENST00000689072.1
      Conserved Domains (1) summary
      cl21608
      Location:99 → 287
      Galactosyl_T; Galactosyltransferase

    RNA

    1. NR_172066.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL161911
      Related
      ENST00000437707.2

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      120793467..120801787
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      132989627..132997948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_021678.1: Suppressed sequence

      Description
      NG_021678.1: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MXE2.2 GenPept UniProtKB/Swiss-Prot:A8MXE2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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    Research Materials