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

Gene ID: 100288842, updated on 11-Apr-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 glycosylation. Predicted to be integral component of membrane. Predicted to be active in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
9q33.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (120793467..120801787)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (132989627..132997948)
105.20220307 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: 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

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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)

Genotypes

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_2023_10

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
Molecular Biology Databases
Research Materials