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B3GAT1

From Wikipedia, the free encyclopedia
(Redirected fromCD57)
Protein-coding gene in the species Homo sapiens

B3GAT1
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

1V82,1V83,1V84

Identifiers
AliasesB3GAT1, CD57, GLCATP, GLCUATP, HNK1, LEU7, NK-1, NK1, beta-1,3-glucuronyltransferase 1
External IDsOMIM:151290;MGI:1924148;HomoloGene:49551;GeneCards:B3GAT1;OMA:B3GAT1 - orthologs
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for B3GAT1
Genomic location for B3GAT1
Band11q25Start134,378,504bp[1]
End134,412,242bp[1]
Gene location (Mouse)
Chromosome 9 (mouse)
Chr.Chromosome 9 (mouse)[2]
Chromosome 9 (mouse)
Genomic location for B3GAT1
Genomic location for B3GAT1
Band9|9 A4Start26,645,024bp[2]
End26,674,397bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • C1 segment

  • right frontal lobe

  • Amygdala

  • anterior cingulate cortex

  • prefrontal cortex

  • Brodmann area 9

  • hippocampus proper

  • putamen

  • nucleus accumbens

  • Region I of hippocampus proper
Top expressed in
  • habenula

  • visual cortex

  • primary visual cortex

  • piriform cortex

  • superior frontal gyrus

  • subiculum

  • dentate gyrus

  • dentate gyrus of hippocampal formation granule cell

  • lateral septal nucleus

  • superior colliculus
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
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: 26.65 – 26.67 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

3-beta-glucuronosyltransferase 1 (B3GAT1) is anenzyme that in humans is encoded by theB3GAT1gene, whose enzymatic activity creates the CD57epitope on other cell surface proteins.[5] Inimmunology, the CD57antigen (CD stands forcluster of differentiation) is also known as HNK1 (human natural killer-1) or LEU7. It is expressed as a carbohydrateepitope that contains a sulfoglucuronyl residue in severaladhesion molecules of thenervous system.[6]

Function

[edit]

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

[edit]

In anatomical pathology, CD57 (immunostaining) is similar to CD56 for use in differentiatingneuroendocrine tumors from others.[7] Usingimmunohistochemistry, CD57 molecule can be demonstrated in around 10 to 20% oflymphocytes, as well as in someepithelial, neural, andchromaffin cells. Amonglymphocytes, CD57 positive cells are typically eitherT cells orNK cells, and are most commonly found within thegerminal centres oflymph 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 withHIV. Increased CD57+ counts have also been reported inrheumatoid arthritis andFelty'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 aslarge granular lymphocytic leukaemia,small-cell carcinoma,thyroid carcinoma, and neural andcarcinoid 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 aschromogranin andNSE.[8]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000109956Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000045994Ensembl, 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. ^ab"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. ^abcLeong 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

[edit]

External links

[edit]
PDB gallery
  • 1v82: Crystal structure of human GlcAT-P apo form
    1v82: Crystal structure of human GlcAT-P apo form
  • 1v83: Crystal structure of human GlcAT-P in complex with Udp and Mn2+
    1v83: Crystal structure of human GlcAT-P in complex with Udp and Mn2+
  • 1v84: Crystal structure of human GlcAT-P in complex with N-acetyllactosamine, Udp, and Mn2+
    1v84: Crystal structure of human GlcAT-P in complex with N-acetyllactosamine, Udp, and Mn2+
1–50
51–100
101–150
151–200
201–250
251–300
301–350
Lymphoid
B cell
T/NK
T cell
NK cell
All
All
Myeloid
CFU-GM/
Myelomonocyte
MEP
CFU-Meg
CFU-E
All (pan-myeloid)
Stem cell
2.4.1:Hexosyl-
transferases
Glucosyl-
Galactosyl-
Glucuronosyl-
Fucosyl-
Mannosyl-
2.4.2:Pentosyl-
transferases
Ribose
ADP-ribosyltransferase
Phosphoribosyltransferase
Other
Other
2.4.99:Sialyl
transferases
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