B3GAT1

3-beta-glucuronosyltransferase 1 (B3GAT1) is an enzyme that in humans is encoded by the B3GAT1 gene, whose enzymatic activity creates the CD57 epitope on other cell surface proteins.[5] In immunology, the CD57 antigen (CD stands for cluster of differentiation) is also known as HNK1 (human natural killer-1) or LEU7. It is expressed as a carbohydrate epitope that contains a sulfoglucuronyl residue in several adhesion molecules of the nervous system.[6]

B3GAT1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesB3GAT1, CD57, GLCATP, GLCUATP, HNK1, LEU7, NK-1, NK1, beta-1,3-glucuronyltransferase 1
External IDsOMIM: 151290 MGI: 1924148 HomoloGene: 49551 GeneCards: B3GAT1
Gene location (Human)
Chr.Chromosome 11 (human)[1]
Band11q25Start134,378,504 bp[1]
End134,412,242 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

27087

76898

Ensembl

ENSG00000109956

ENSMUSG00000045994

UniProt

Q9P2W7

Q9CW73

RefSeq (mRNA)

NM_018644
NM_054025
NM_001367973

NM_029792
NM_001310766

RefSeq (protein)

NP_061114
NP_473366
NP_001354902

NP_001297695
NP_084068

Location (UCSC)Chr 11: 134.38 – 134.41 MbChr 9: 26.73 – 26.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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.[5]

Immunohistochemistry

In anatomical pathology, CD57 (immunostaining) is similar to CD56 for use in differentiating neuroendocrine tumors from others.[7] Using immunohistochemistry, CD57 molecule can be demonstrated in around 10 to 20% of lymphocytes, as well as in some epithelial, neural, and chromaffin cells. Among lymphocytes, CD57 positive cells are typically either T cells or NK cells, and are most commonly found within the germinal centres of lymph nodes, tonsils, and the spleen.[8]

There is an increase in the number of circulating CD57 positive cells in the blood of patients who have recently undergone organ or tissue transplants, especially of the bone marrow, and in patients with HIV. Increased CD57+ counts have also been reported in rheumatoid arthritis and Felty's syndrome, among other conditions.[8]

Neoplastic CD57 positive cells are seen in conditions as varied as large granular lymphocytic leukaemia, small-cell carcinoma, thyroid carcinoma, and neural and carcinoid tumours. Although the antigen is particularly common in carcinoid tumours, it is found in such a wide range of other conditions that it is of less use in distinguishing these tumours from others than more specific markers such as chromogranin and NSE.[8]

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References
  1. GRCh38: Ensembl release 89: ENSG00000109956 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000045994 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: B3GAT1 beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)".
  6. Mitsumoto Y, Oka S, Sakuma H, Inazawa J, Kawasaki T (Apr 2000). "Cloning and chromosomal mapping of human glucuronyltransferase involved in biosynthesis of the HNK-1 carbohydrate epitope". Genomics. 65 (2): 166–73. doi:10.1006/geno.2000.6152. PMID 10783264.
  7. Wick MR (2010). "Chapter 11 – Immunohistology of the Mediastinum". In Dabbs DJ (ed.). Diagnostic immunohistochemistry: theranostic and genomic applications (3rd ed.). Philadelphia, PA: Saunders/Elsevier. pp. 345–6. doi:10.1016/B978-1-4160-5766-6.00015-7. ISBN 978-1-4160-5766-6.
  8. Leong AS, Cooper K, Leong FJ (2003). Manual of Diagnostic Antibodies for Immunohistology (2nd ed.). London: Greenwich Medical Media. pp. 131–134. ISBN 978-1-84110-100-2.

Further reading
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