0  structures 46  species 0  interactions 96  sequences 2  architectures

Family: MGAT2 (PF05060)

Summary

N-acetylglucosaminyltransferase II (MGAT2) Add an annotation

UDP-N-acetyl-D-glucosamine:alpha-6-D-mannoside beta-1,2-N- acetylglucosaminyltransferase II (EC 2.4.1.143) (GnT II/MGAT2) is a Golgi resident enzyme that catalyses an essential step in the biosynthetic pathway leading from high mannose to complex N-linked oligosaccharides [1]. Mutations in the MGAT2 gene lead to congenital disorder of glycosylation (CDG IIa). CDG IIa patients have an increased bleeding tendency, unrelated to coagulation factors [2].


Literature references

  1. D'Agostaro GA, Zingoni A, Moritz RL, Simpson RJ, Schachter H, Bendiak B; , J Biol Chem 1995;270:15211-15221.: Molecular cloning and expression of cDNA encoding the rat UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II. PUBMED:7797505

  2. Van Geet C, Jaeken J, Freson K, Lenaerts T, Arnout J, Vermylen J, Hoylaerts MF; , J Inherit Metab Dis 2001;24:477-492.: Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications. PUBMED:11596651


InterPro entry IPR007754

N-acetylglucosaminyltransferase II () is a Golgi resident enzyme that catalyzes an essential step in the biosynthetic pathway leading from high mannose to complex N-linked oligosaccharides PUBMED:7797505. Mutations in the MGAT2 gene lead to a congenital disorder of glycosylation (CDG IIa). CDG IIa patients have an increased bleeding tendency, unrelated to coagulation factors PUBMED:11596651.

Synonym(s): UDP-N-acetyl-D-glucosamine:alpha-6-D-mannoside beta-1,2-N- acetylglucosaminyltransferase II, GnT II/MGAT2.

Gene Ontology

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Domain organisation

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Alignments

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The main seed and full alignments are generated using sequences from the UniProt sequence database. However, we also generate alignments using sequences from the NCBI sequence database and the "metaseq" metagenomics dataset.

You can view alignments from these two additional datasets using the form above, or you can download alignments of NCBI or metagenomics sequences, as gzip-compressed files.

Pfam alignments:
Full length sequences

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Trees

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Curation and family details

This section shows the detailed information about the Pfam family. You can see the definitions of many of the terms in this section in the glossary and a fuller explanation of the scoring system that we use in the scores section of the help pages.

Curation View help on the curation process

Seed source: Pfam-B_6001 (release 7.7)
Previous IDs: none
Type: Family
Author: Moxon SJ
Number in seed: 10
Number in full: 96
Average length of the domain: 260.60 aa
Average identity of full alignment: 38 %
Average coverage of the sequence by the domain: 59.47 %

HMM information View help on HMM parameters

HMM build commands:
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 9421015 -E 1000 HMM pfamseq
Model details:
Parameter Sequence Domain
Gathering cut-off 27.0 27.0
Trusted cut-off 29.1 29.1
Noise cut-off 23.1 26.9
Model length: 357
Family (HMM) version: 7
Download: download the raw HMM for this family

Species distribution

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