B3GAT1

B3GAT1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1V82, 1V83, 1V84
Identifiers
Aliases	B3GAT1 , CD57, GLCATP, GLCUATP, HNK1, LEU7, NK-1, NK1, beta-1,3-glucuronyltransferase 1
External IDs	OMIM: 151290 MGI: 1924148 HomoloGene: 49551 GeneCards: B3GAT1
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11q25 Start 134,378,504 bp [1] End 134,412,242 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9|9 A4 Start 26,645,024 bp [2] End 26,674,397 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in amygdala prefrontal cortex Brodmann area 9 hippocampus proper putamen nucleus accumbens Region I of hippocampus proper caudate nucleus endothelial cell substantia nigra Top expressed in habenula visual cortex piriform cortex superior frontal gyrus subiculum dentate gyrus superior colliculus Region I of hippocampus proper primary motor cortex medial dorsal nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity metal ion binding galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity Cellular component integral component of membrane Golgi apparatus membrane extracellular region endoplasmic reticulum endoplasmic reticulum membrane intracellular membrane-bounded organelle Golgi membrane Biological process glycosaminoglycan metabolic process protein glycosylation chondroitin sulfate proteoglycan biosynthetic process chondroitin sulfate metabolic process carbohydrate metabolic process cellular response to hypoxia Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 9: 26.65 – 26.67 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

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] High levels of CD57 expression amongst circulating CD8+ T cells is associated with other markers of immune ageing (immunosenescence) and may be associated with increased cancer risk in renal transplant recipients. ^[9]

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]

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 (April 2000). "Cloning and chromosomal mapping of human glucuronyltransferase involved in biosynthesis of the HNK-1 carbohydrate epitope". Genomics. 65 (2): 166–173. 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.
9. Bottomley MJ, Harden PN, Wood KJ (May 2016). "CD8+ Immunosenescence Predicts Post-Transplant Cutaneous Squamous Cell Carcinoma in High-Risk Patients". Journal of the American Society of Nephrology. 27 (5): 1505–1515. doi:10.1681/ASN.2015030250. PMC   4849821 . PMID   26563386.

Further reading

• Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (April 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry. 236 (1): 107–113. doi:10.1006/abio.1996.0138. PMID   8619474.
• Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, et al. (April 1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–358. doi:10.1101/gr.7.4.353. PMC   139146 . PMID   9110174.
• Tone Y, Kitagawa H, Imiya K, Oka S, Kawasaki T, Sugahara K (October 1999). "Characterization of recombinant human glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans". FEBS Letters. 459 (3): 415–420. doi: 10.1016/S0014-5793(99)01287-9 . PMID   10526176. S2CID   7878952.
• Mitsumoto Y, Oka S, Sakuma H, Inazawa J, Kawasaki T (April 2000). "Cloning and chromosomal mapping of human glucuronyltransferase involved in biosynthesis of the HNK-1 carbohydrate epitope". Genomics. 65 (2): 166–173. doi:10.1006/geno.2000.6152. PMID   10783264.
• Pedersen LC, Tsuchida K, Kitagawa H, Sugahara K, Darden TA, Negishi M (November 2000). "Heparan/chondroitin sulfate biosynthesis. Structure and mechanism of human glucuronyltransferase I". The Journal of Biological Chemistry. 275 (44): 34580–34585. doi: 10.1074/jbc.M007399200 . PMID   10946001.
• Cebo C, Durier V, Lagant P, Maes E, Florea D, Lefebvre T, et al. (April 2002). "Function and molecular modeling of the interaction between human interleukin 6 and its HNK-1 oligosaccharide ligands". The Journal of Biological Chemistry. 277 (14): 12246–12252. doi: 10.1074/jbc.M106816200 . PMID   11788581.
• Ouzzine M, Gulberti S, Levoin N, Netter P, Magdalou J, Fournel-Gigleux S (July 2002). "The donor substrate specificity of the human beta 1,3-glucuronosyltransferase I toward UDP-glucuronic acid is determined by two crucial histidine and arginine residues". The Journal of Biological Chemistry. 277 (28): 25439–25445. doi: 10.1074/jbc.M201912200 . PMID   11986319.
• Brenchley JM, Karandikar NJ, Betts MR, Ambrozak DR, Hill BJ, Crotty LE, et al. (April 2003). "Expression of CD57 defines replicative senescence and antigen-induced apoptotic death of CD8+ T cells". Blood. 101 (7): 2711–2720. doi: 10.1182/blood-2002-07-2103 . PMID   12433688.
• Jirásek T, Hozák P, Mandys V (2003). "Different patterns of chromogranin A and Leu-7 (CD57) expression in gastrointestinal carcinoids: immunohistochemical and confocal laser scanning microscopy study". Neoplasma. 50 (1): 1–7. PMID   12687271.
• Jeffries AR, Mungall AJ, Dawson E, Halls K, Langford CF, Murray RM, et al. (July 2003). "beta-1,3-Glucuronyltransferase-1 gene implicated as a candidate for a schizophrenia-like psychosis through molecular analysis of a balanced translocation". Molecular Psychiatry. 8 (7): 654–663. doi: 10.1038/sj.mp.4001382 . PMID   12874601.
• Chochi K, Ichikura T, Majima T, Kawabata T, Matsumoto A, Sugasawa H, et al. (2004). "The increase of CD57+ T cells in the peripheral blood and their impaired immune functions in patients with advanced gastric cancer". Oncology Reports. 10 (5): 1443–1448. doi:10.3892/or.10.5.1443. PMID   12883721.
• Kakuda S, Shiba T, Ishiguro M, Tagawa H, Oka S, Kajihara Y, et al. (May 2004). "Structural basis for acceptor substrate recognition of a human glucuronyltransferase, GlcAT-P, an enzyme critical in the biosynthesis of the carbohydrate epitope HNK-1". The Journal of Biological Chemistry. 279 (21): 22693–22703. doi: 10.1074/jbc.M400622200 . PMID   14993226.
• Matsubara K, Yura K, Hirata T, Nigami H, Harigaya H, Nozaki H, et al. (2005). "Acute lymphoblastic leukemia with coexpression of CD56 and CD57: case report". Pediatric Hematology and Oncology. 21 (7): 677–682. doi:10.1080/08880010490501105. PMID   15626024. S2CID   41086927.
• Ibegbu CC, Xu YX, Harris W, Maggio D, Miller JD, Kourtis AP (May 2005). "Expression of killer cell lectin-like receptor G1 on antigen-specific human CD8+ T lymphocytes during active, latent, and resolved infection and its relation with CD57". Journal of Immunology. 174 (10): 6088–6094. doi: 10.4049/jimmunol.174.10.6088 . PMID   15879103.
• Assouti M, Vynios DH, Anagnostides ST, Papadopoulos G, Georgakopoulos CD, Gartaganis SP (January 2006). "Collagen type IX and HNK-1 epitope in tears of patients with pseudoexfoliation syndrome". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1762 (1): 54–58. doi: 10.1016/j.bbadis.2005.09.005 . PMID   16257185.
• Barré L, Venkatesan N, Magdalou J, Netter P, Fournel-Gigleux S, Ouzzine M (August 2006). "Evidence of calcium-dependent pathway in the regulation of human beta1,3-glucuronosyltransferase-1 (GlcAT-I) gene expression: a key enzyme in proteoglycan synthesis". FASEB Journal. 20 (10): 1692–1694. doi: 10.1096/fj.05-5073fje . PMID   16807373. S2CID   16549210.
• Sada-Ovalle I, Torre-Bouscoulet L, Valdez-Vázquez R, Martínez-Cairo S, Zenteno E, Lascurain R (December 2006). "Characterization of a cytotoxic CD57+ T cell subset from patients with pulmonary tuberculosis". Clinical Immunology. 121 (3): 314–323. doi:10.1016/j.clim.2006.08.011. PMID   17035093.

External links

• CD57+Antigen at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human B3GAT1 genome location and B3GAT1 gene details page in the UCSC Genome Browser .