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B3GAT1 beta-1,3-glucuronyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 27087, updated on 5-Nov-2017
Official Symbol
B3GAT1provided by HGNC
Official Full Name
beta-1,3-glucuronyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:921
See related
Ensembl:ENSG00000109956 MIM:151290; Vega:OTTHUMG00000167180
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
NK1; CD57; HNK1; LEU7; NK-1; GLCATP; GLCUATP
Summary
The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
Orthologs
Location:
11q25
Exon count:
11
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (134378504..134411986, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (134248398..134281880, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene galactosidase beta 1 like 3 Neighboring gene ATPase H+/K+ transporting beta subunit pseudogene Neighboring gene galactosidase beta 1 like 2 Neighboring gene uncharacterized LOC283177 Neighboring gene uncharacterized LOC105369583

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env NK cells that respond with IFN-gamma and TNF-alpha cytokine production to HIV-1 gp120 peptides have reduced CD16 and NKp46 expression and have increased levels of CD57 PubMed
Vif vif HIV-1 Vif upregulates the expression of beta-1,3-glucuronyltransferase 1 (B3GAT1, glucuronosyltransferase P) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
PubMed 
chondroitin sulfate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
chondroitin sulfate proteoglycan biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
glycosaminoglycan metabolic process TAS
Traceable Author Statement
more info
 
protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
Golgi membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
Preferred Names
galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1
Names
LEU7 antigen
UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase
glcUAT-P
glucuronosyltransferase P
NP_061114.2
NP_473366.1
XP_005271563.1
XP_011541053.1
XP_011541055.1
XP_016873039.1
XP_016873040.1
XP_016873041.1

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_018644.3NP_061114.2  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1

    See identical proteins and their annotated locations for NP_061114.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB029396, AF131769, BC010466
    Consensus CDS
    CCDS8500.1
    UniProtKB/Swiss-Prot
    Q9P2W7
    Related
    ENSP00000376359.1, ENST00000392580.5
    Conserved Domains (1) summary
    pfam03360
    Location:105313
    Glyco_transf_43; Glycosyltransferase family 43
  2. NM_054025.2NP_473366.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1

    See identical proteins and their annotated locations for NP_473366.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences in the 5' end of the transcript, as compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AF131769, BC010466
    Consensus CDS
    CCDS8500.1
    UniProtKB/Swiss-Prot
    Q9P2W7
    Related
    ENSP00000307875.4, OTTHUMP00000235432, ENST00000312527.8, OTTHUMT00000393638
    Conserved Domains (1) summary
    pfam03360
    Location:105313
    Glyco_transf_43; Glycosyltransferase family 43

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

    Range
    134378504..134411986 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271506.3XP_005271563.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X2

    See identical proteins and their annotated locations for XP_005271563.1

    UniProtKB/Swiss-Prot
    Q9P2W7
    Conserved Domains (1) summary
    pfam03360
    Location:118326
    Glyco_transf_43; Glycosyltransferase family 43
  2. XM_011542751.2XP_011541053.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X2

    See identical proteins and their annotated locations for XP_011541053.1

    UniProtKB/Swiss-Prot
    Q9P2W7
    Conserved Domains (1) summary
    pfam03360
    Location:118326
    Glyco_transf_43; Glycosyltransferase family 43
  3. XM_017017551.1XP_016873040.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9P2W7
    Conserved Domains (1) summary
    pfam03360
    Location:118326
    Glyco_transf_43; Glycosyltransferase family 43
  4. XM_017017552.1XP_016873041.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X3

  5. XM_011542753.2XP_011541055.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X2

    See identical proteins and their annotated locations for XP_011541055.1

    UniProtKB/Swiss-Prot
    Q9P2W7
    Conserved Domains (1) summary
    pfam03360
    Location:118326
    Glyco_transf_43; Glycosyltransferase family 43
  6. XM_017017550.1XP_016873039.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9P2W7
    Related
    ENSP00000433847.1, OTTHUMP00000235433, ENST00000524765.1, OTTHUMT00000393639
    Conserved Domains (1) summary
    pfam03360
    Location:105313
    Glyco_transf_43; Glycosyltransferase family 43

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    134134911..134168321 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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