Hmdb loader
Identification
HMDB Protein ID HMDBP09187
Secondary Accession Numbers
  • 14945
Name Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase
Synonyms
  1. Asparagine-linked glycosylation protein 6 homolog
  2. Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase
  3. Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase
Gene Name ALG6
Protein Type Enzyme
Biological Properties
General Function Involved in transferase activity, transferring hexosyl groups
Specific Function Adds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man(9)GlcNAc(2)-PP-Dol.
Pathways
  • N-Glycan biosynthesis
  • protein glycosylation
Reactions
Dolichyl b-D-glucosyl phosphate + D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol → D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + Dolichol-20 details
Dolichyl D-glucosyl phosphate + → Dolichyl phosphate + details
GO Classification
Biological Process
dolichol-linked oligosaccharide biosynthetic process
post-translational protein modification
protein N-linked glycosylation via asparagine
Cellular Component
endoplasmic reticulum membrane
integral to membrane
Component
membrane
cell part
endoplasmic reticulum membrane
organelle membrane
Function
catalytic activity
transferase activity
transferase activity, transferring hexosyl groups
transferase activity, transferring glycosyl groups
Molecular Function
glucosyltransferase activity
Cellular Location
  1. Multi-pass membrane protein (Potential)
  2. Endoplasmic reticulum membrane
Gene Properties
Chromosome Location 1
Locus 1p31.3
SNPs ALG6
Gene Sequence
>1524 bp
ATGGAGAAATGGTACTTGATGACAGTAGTGGTTTTAATAGGACTAACAGTACGATGGACA
GTGTCTCTTAATTCTTATTCAGGTGCTGGTAAACCGCCTATGTTTGGTGATTATGAAGCT
CAGAGACACTGGCAAGAAATAACTTTTAATTTACCGGTCAAACAATGGTATTTTAACAGC
AGTGATAACAATTTACAGTATTGGGGATTGGATTACCCACCTCTTACAGCTTATCATAGT
CTCCTATGTGCATATGTGGCAAAGTTTATAAATCCAGACTGGATTGCTCTCCATACATCA
CGTGGATATGAGAGTCAGGCACATAAGCTCTTCATGCGTACAACAGTTTTAATTGCTGAT
CTGCTGATTTACATACCTGCAGTGGTTTTGTACTGTTGTTGCTTAAAAGAAATCTCAACT
AAGAAAAAGATTGCTAATGCATTATGCATCTTGCTGTATCCAGGCCTTATTCTTATAGAC
TATGGACATTTTCAATATAATTCTGTGAGTCTTGGCTTTGCTTTGTGGGGTGTTCTTGGA
ATATCTTGTGACTGCGACCTCCTAGGGTCACTGGCATTTTGCTTAGCTATAAATTATAAA
CAGATGGAACTTTACCACGCCTTGCCATTTTTTTGCTTTTTACTTGGCAAGTGTTTTAAA
AAAGGCCTCAAAGGAAAGGGGTTTGTGTTGCTAGTTAAGCTAGCTTGTATTGTTGTGGCT
TCCTTCGTTCTCTGCTGGCTGCCATTCTTTACAGAAAGGGAACAAACCCTGCAGGTTCTA
AGAAGACTCTTCCCGGTTGATCGTGGATTATTTGAGGATAAAGTAGCCAATATTTGGTGC
AGCTTCAATGTCTTTCTGAAGATTAAGGATATTTTGCCACGTCACATCCAATTAATAATG
AGCTTTTGTTTTACGTTTTTGAGCCTGCTTCCTGCATGCATAAAATTAATACTTCAGCCC
TCTTCCAAAGGATTCAAATTTACACTGGTTAGCTGTGCGCTATCATTCTTTTTATTTTCT
TTCCAAGTACATGAAAAATCCATTCTCTTGGTGTCACTACCAGTCTGCTTAGTTTTAAGT
GAAATTCCTTTTATGTCTACTTGGTTTTTACTTGTGTCAACATTTAGTATGCTACCTCTT
CTATTGAAGGATGAACTCCTAATGCCCTCTGTTGTGACAACAATGGCATTTTTTATAGCT
TGTGTAACTTCCTTTTCAATATTTGAAAAGACTTCTGAAGAAGAACTGCAGTTGAAATCC
TTTTCCATTTCTGTGAGGAAATATCTTCCATGTTTTACATTTCTTTCCAGAATTATACAA
TATTTGTTTCTTATCTCAGTCATCACTATGGTGCTTCTGACGTTGATGACTGTCACACTG
GATCCTCCTCAGAAACTACCGGACTTGTTTTCTGTATTGGTGTGTTTTGTATCTTGCTTG
AACTTCCTGTTCTTCTTGGTATACTTTAACATTATTATTATGTGGGATTCCAAAAGTGGA
AGAAATCAGAAGAAAATCAGCTAG
Protein Properties
Number of Residues 507
Molecular Weight 58119.89
Theoretical pI 8.455
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase
MEKWYLMTVVVLIGLTVRWTVSLNSYSGAGKPPMFGDYEAQRHWQEITFNLPVKQWYFNS
SDNNLQYWGLDYPPLTAYHSLLCAYVAKFINPDWIALHTSRGYESQAHKLFMRTTVLIAD
LLIYIPAVVLYCCCLKEISTKKKIANALCILLYPGLILIDYGHFQYNSVSLGFALWGVLG
ISCDCDLLGSLAFCLAINYKQMELYHALPFFCFLLGKCFKKGLKGKGFVLLVKLACIVVA
SFVLCWLPFFTEREQTLQVLRRLFPVDRGLFEDKVANIWCSFNVFLKIKDILPRHIQLIM
SFCFTFLSLLPACIKLILQPSSKGFKFTLVSCALSFFLFSFQVHEKSILLVSLPVCLVLS
EIPFMSTWFLLVSTFSMLPLLLKDELLMPSVVTTMAFFIACVTSFSIFEKTSEEELQLKS
FSISVRKYLPCFTFLSRIIQYLFLISVITMVLLTLMTVTLDPPQKLPDLFSVLVCFVSCL
NFLFFLVYFNIIIMWDSKSGRNQKKIS
GenBank ID Protein 5281124
UniProtKB/Swiss-Prot ID Q9Y672
UniProtKB/Swiss-Prot Entry Name ALG6_HUMAN
PDB IDs Not Available
GenBank Gene ID AF102851
GeneCard ID ALG6
GenAtlas ID ALG6
HGNC ID HGNC:23157
References
General References
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  5. Schollen E, Martens K, Geuzens E, Matthijs G: DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). Eur J Hum Genet. 2002 Oct;10(10):643-8. [PubMed:12357336 ]
  6. Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T: A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. Proc Natl Acad Sci U S A. 1999 Jun 8;96(12):6982-7. [PubMed:10359825 ]
  7. Westphal V, Murch S, Kim S, Srikrishna G, Winchester B, Day R, Freeze HH: Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation. Am J Pathol. 2000 Dec;157(6):1917-25. [PubMed:11106564 ]
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  9. Westphal V, Schottstadt C, Marquardt T, Freeze HH: Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic. Mol Genet Metab. 2000 Jul;70(3):219-23. [PubMed:10924277 ]
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