Hmdb loader
Identification
HMDB Protein ID HMDBP08852
Secondary Accession Numbers
  • 14579
Name Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
Synonyms
  1. GnT I.2
  2. POMGnT1
  3. UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2
Gene Name POMGNT1
Protein Type Unknown
Biological Properties
General Function Involved in alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity
Specific Function Participates in O-mannosyl glycosylation. May be responsible for the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity.
Pathways
  • Other types of O-glycan biosynthesis
  • protein glycosylation
Reactions
Uridine diphosphate-N-acetylglucosamine + Man-R → N-acetyl-D-glucosamine-beta-1,2-Man-R + Uridine 5'-diphosphate details
UDP-N-acetyl-D-glucosamine + → UDP + details
GO Classification
Biological Process
protein O-linked glycosylation
Cellular Component
integral to membrane
Golgi membrane
Component
golgi membrane
membrane
cell part
organelle membrane
Function
catalytic activity
transferase activity
alpha-1,3-mannosylglycoprotein 2-beta-n-acetylglucosaminyltransferase activity
acetylglucosaminyltransferase activity
udp-glycosyltransferase activity
transferase activity, transferring glycosyl groups
Molecular Function
beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity
Process
metabolic process
macromolecule metabolic process
macromolecule modification
protein modification process
protein amino acid glycosylation
protein amino acid n-linked glycosylation
Cellular Location
  1. Golgi apparatus membrane
  2. Single-pass type II membrane protein (Potential)
Gene Properties
Chromosome Location 1
Locus 1p34.1
SNPs POMGNT1
Gene Sequence
>1983 bp
ATGGACGACTGGAAGCCCAGCCCCCTCATCAAGCCCTTTGGGGCTCGGAAGAAGCGGAGC
TGGTACCTTACCTGGAAGTATAAACTGACAAACCAGCGGGCCCTGCGGAGATTCTGTCAG
ACAGGGGCCGTGCTTTTCCTGCTGGTGACTGTCATTGTCAATATCAAGTTGATCCTGGAC
ACTCGGCGAGCCATCAGTGAAGCCAATGAAGACCCAGAGCCAGAGCAAGACTATGATGAG
GCCCTAGGCCGCCTGGAGCCCCCACGGCGCAGAGGCAGTGGTCCCCGGCGGGTCCTGGAC
GTAGAGGTGTATTCAAGTCGCAGCAAAGTATATGTGGCAGTGGATGGCACCACGGTGCTG
GAGGATGAGGCCCGGGAGCAGGGCCGGGGCATCCATGTCATTGTCCTCAACCAGGCCACG
GGCCACGTGATGGCAAAACGTGTGTTTGACACGTACTCACCTCATGAGGATGAGGCCATG
GTGCTATTCCTCAACATGGTAGCGCCCGGCCGAGTGCTCATCTGCACTGTCAAGGATGAG
GGCTCCTTCCACCTCAAGGACACAGCCAAGGCTCTGCTGAGGAGCCTGGGCAGCCAGGCT
GGCCCTGCCCTGGGCTGGAGGGACACATGGGCCTTCGTGGGACGAAAAGGAGGTCCTGTC
TTCGGGGAGAAACATTCTAAATCACCTGCCCTCTCTTCCTGGGGGGACCCAGTCCTGCTG
AAGACAGATGTGCCATTGAGCTCAGCAGAAGAGGCAGAGTGCCACTGGGCAGACACAGAG
CTGAACCGTCGCCGCCGGCGCTTCTGCAGCAAAGTTGAGGGCTATGGAAGTGTATGCAGC
TGCAAGGACCCCACACCCATCGAGTTCAGCCCTGACCCACTCCCAGACAACAAGGTCCTC
AATGTGCCTGTGGCTGTCATTGCAGGGAACCGACCCAATTACCTGTACAGGATGCTGCGC
TCTCTGCTTTCAGCCCAGGGGGTGTCTCCTCAGATGATAACAGTTTTCATTGACGGCTAC
TATGAGGAACCCATGGATGTGGTGGCACTGTTTGGTCTGAGGGGCATCCAGCATACTCCC
ATCAGCATCAAGAATGCCCGCGTGTCTCAGCACTACAAGGCCAGCCTCACTGCCACTTTC
AACCTGTTTCCGGAGGCCAAGTTTGCTGTGGTTCTGGAAGAGGACCTGGACATTGCTGTG
GATTTTTTCAGTTTCCTGAGCCAATCCATCCACCTACTGGAGGAGGATGACAGCCTGTAC
TGCATCTCTGCCTGGAATGACCAGGGGTATGAACACACGGCTGAGGACCCAGCACTACTG
TACCGTGTGGAGACCATGCCTGGGCTGGGCTGGGTGCTCAGGAGGTCCTTGTACAAGGAG
GAGCTTGAGCCCAAGTGGCCTACACCGGAAAAGCTCTGGGATTGGGACATGTGGATGCGG
ATGCCTGAACAACGCCGGGGCCGAGAGTGCATCATCCCTGACGTTTCCCGATCCTACCAC
TTTGGCATCGTCGGCCTCAACATGAATGGCTACTTTCACGAGGCCTACTTCAAGAAGCAC
AAGTTCAACACGGTTCCAGGTGTCCAGCTCAGGAATGTGGACAGTCTGAAGAAAGAAGCT
TATGAAGTGGAAGTTCACAGGCTGCTCAGTGAGGCTGAGGTTCTGGACCACAGCAAGAAC
CCTTGTGAAGACTCTTTCCTGCCAGACACAGAGGGCCACACCTACGTGGCCTTTATTCGA
ATGGAGAAAGATGATGACTTCACCACCTGGACCCAGCTTGCCAAGTGCCTCCATATCTGG
GACCTGGATGTGCGTGGCAACCATCGGGGCCTGTGGAGATTGTTTCGGAAGAAGAACCAC
TTCCTGGTGGTGGGGGTCCCGGCTTCCCCCTACTCAGTGAAGAAGCCACCCTCAGTCACC
CCAATTTTCCTGGAGCCACCCCCAAAGGAGGAGGGAGCCCCAGGAGCCCCAGAACAGACA
TGA
Protein Properties
Number of Residues 660
Molecular Weight 75219.255
Theoretical pI 6.837
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
MDDWKPSPLIKPFGARKKRSWYLTWKYKLTNQRALRRFCQTGAVLFLLVTVIVNIKLILD
TRRAISEANEDPEPEQDYDEALGRLEPPRRRGSGPRRVLDVEVYSSRSKVYVAVDGTTVL
EDEAREQGRGIHVIVLNQATGHVMAKRVFDTYSPHEDEAMVLFLNMVAPGRVLICTVKDE
GSFHLKDTAKALLRSLGSQAGPALGWRDTWAFVGRKGGPVFGEKHSKSPALSSWGDPVLL
KTDVPLSSAEEAECHWADTELNRRRRRFCSKVEGYGSVCSCKDPTPIEFSPDPLPDNKVL
NVPVAVIAGNRPNYLYRMLRSLLSAQGVSPQMITVFIDGYYEEPMDVVALFGLRGIQHTP
ISIKNARVSQHYKASLTATFNLFPEAKFAVVLEEDLDIAVDFFSFLSQSIHLLEEDDSLY
CISAWNDQGYEHTAEDPALLYRVETMPGLGWVLRRSLYKEELEPKWPTPEKLWDWDMWMR
MPEQRRGRECIIPDVSRSYHFGIVGLNMNGYFHEAYFKKHKFNTVPGVQLRNVDSLKKEA
YEVEVHRLLSEAEVLDHSKNPCEDSFLPDTEGHTYVAFIRMEKDDDFTTWTQLAKCLHIW
DLDVRGNHRGLWRLFRKKNHFLVVGVPASPYSVKKPPSVTPIFLEPPPKEEGAPGAPEQT
GenBank ID Protein 16904640
UniProtKB/Swiss-Prot ID Q8WZA1
UniProtKB/Swiss-Prot Entry Name PMGT1_HUMAN
PDB IDs Not Available
GenBank Gene ID AB057356
GeneCard ID POMGNT1
GenAtlas ID POMGNT1
HGNC ID HGNC:19139
References
General References
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  5. Denis NJ, Vasilescu J, Lambert JP, Smith JC, Figeys D: Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. Proteomics. 2007 Mar;7(6):868-74. [PubMed:17370265 ]
  6. Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhashi H, Takahashi S, Takeuchi M, Herrmann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T, Endo T: Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell. 2001 Nov;1(5):717-24. [PubMed:11709191 ]
  7. Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T: Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet. 2003 Mar 1;12(5):527-34. [PubMed:12588800 ]
  8. Zhang W, Betel D, Schachter H: Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I. Biochem J. 2002 Jan 1;361(Pt 1):153-62. [PubMed:11742540 ]
  9. Manya H, Sakai K, Kobayashi K, Taniguchi K, Kawakita M, Toda T, Endo T: Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. Biochem Biophys Res Commun. 2003 Jun 20;306(1):93-7. [PubMed:12788071 ]
  10. Akasaka-Manya K, Manya H, Kobayashi K, Toda T, Endo T: Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1. Biochem Biophys Res Commun. 2004 Jul 16;320(1):39-44. [PubMed:15207699 ]
  11. Vervoort VS, Holden KR, Ukadike KC, Collins JS, Saul RA, Srivastava AK: POMGnT1 gene alterations in a family with neurological abnormalities. Ann Neurol. 2004 Jul;56(1):143-8. [PubMed:15236414 ]
  12. Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez J, Valanne L, Joensuu T, Lehesjoki AE: POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. J Med Genet. 2004 Oct;41(10):e115. [PubMed:15466003 ]