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Synonyms
alg1 protein, mannosyltransferase i, chitobiosyldiphosphodolichol beta-mannosyltransferase, alg1 mannosyltransferase, alg1 beta1,4 mannosyltransferase, alg1p, gdp-man:glcnac2-pp-dolichol mannosyltransferase,
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GDP-alpha-D-mannose + chitobiosyldiphosphodolichol
GDP + beta-(1->4)-D-mannosylchitobiosyldiphosphodolichol
GDP-alpha-D-mannose + diphosphodolichyl-N-acetyl-D-glucosaminyl-N-acetyl-D-glucosamine
GDP + beta-(1->4)-D-mannosylchitobiosyl diphosphodolichol
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GDP-alpha-D-mannose + N-acetyl-beta-D-glucosaminyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-diphosphodolichol
GDP + beta-D-mannosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-diphosphodolichol
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GDP-alpha-D-mannose + chitobiosyldiphosphodolichol
GDP + beta-(1->4)-D-mannosylchitobiosyldiphosphodolichol
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GDP-alpha-D-mannose + chitobiosyldiphosphodolichol
GDP + beta-(1->4)-D-mannosylchitobiosyldiphosphodolichol
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patient with congenital disorder of glycosylation is compound heterozygous for three mutations in the ALG1 gene, leading to the amino acid substitutions S150R and D429E on one allele and S258L on the other. The detrimental effect of these mutations on ALG1 protein function is demonstrated in a complementation assay. This novel type of congenital disorder of glycosylation should be referred to as CDG-Ik
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additional information
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the molecular nature of severe multisystemic disorder with a recurrent nonimmune hydrops fetalis is identified as deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase caused by a C773T transition
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GDP-alpha-D-mannose + chitobiosyldiphosphodolichol
GDP + beta-(1->4)-D-mannosylchitobiosyldiphosphodolichol
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GDP-alpha-D-mannose + N-acetyl-beta-D-glucosaminyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-diphosphodolichol
GDP + beta-D-mannosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-diphosphodolichol
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additional information
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additional information
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patient with congenital disorder of glycosylation is compound heterozygous for three mutations in the ALG1 gene, leading to the amino acid substitutions S150R and D429E on one allele and S258L on the other. The detrimental effect of these mutations on ALG1 protein function is demonstrated in a complementation assay. This novel type of congenital disorder of glycosylation should be referred to as CDG-Ik
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?
additional information
?
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the molecular nature of severe multisystemic disorder with a recurrent nonimmune hydrops fetalis is identified as deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase caused by a C773T transition
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.
Pemphigoid, Bullous
A successful treatment with ustekunumab in a case of anti-laminin-?1 pemphigoid associated with psoriasis.
Psoriasis
A successful treatment with ustekunumab in a case of anti-laminin-?1 pemphigoid associated with psoriasis.
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malfunction
a deficiency in guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase-1 causes type I congenital disorders of glycosylation
metabolism
for proper accomplishment of protein N-glycosylation, early assembly of dolichol-linked oligosaccharides on cytoplasmic side of the rough endoplasmic reticulum membrane must progress at a rate greater than subsequent flipping of dolichol-linked oligosaccharides into luminal side. To assure this, all activities of five glycosyltransferases involved in early DLO assembly are required in addition to their substrates. If any of them is diminished, eukaryotic cell would not be able to survive
physiological function
the enzyme is involved in the early assembly of dolichol-linked oligosaccharides. Early dolichol-linked oligosaccharide assembly from dolichyl phosphate to Man5GlcNAc2-PP-Dol is a fundamental and essential event for viability of eukaryotic cells, especially multicellular organisms. Analysis of transcriptional regulation, overview. The 200 bp region upstream from HMT-1 open reading frame is crucial for both positive and negative regulation of the HMT-1 transcription
physiological function
ALG1 is presumed to be involved in the regulation of the protein N-glycosylation. Genetic association of WDR3 and ALG1 in schizophrenia. The WDR3 gene may likely be a sensitive factor in female patients with schizophrenia
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C396Y
the mutation is associated with congenital disorders of glycosylation
E342L
mutation in the semiconserved regions of the HMT-1 gene causes drastically reduced enzyme activity, leading to a severe disease with death in early infancy
G145D
the mutation is associated with congenital disorders of glycosylation
M377V
the mutation is associated with congenital disorders of glycosylation
R276W
the mutation is associated with congenital disorders of glycosylation
R438W
the mutation is associated with congenital disorders of glycosylation
S150R
the mutation is associated with congenital disorders of glycosylation
D429E
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patient with congenital disorder of glycosylation is compound heterozygous for three mutations in the ALG1 gene, leading to the amino acid substitutions S150R and D429E on one allele and S258L on the other. The detrimental effect of these mutations on ALG1 protein function is demonstrated in a complementation assay. This novel type of congenital disorder of glycosylation should be reffered to as CDG-Ik
S150R
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patient with congenital disorder of glycosylation is compound heterozygous for three mutations in the ALG1 gene, leading to the amino acid substitutions S150R and D429E on one allele and S258L on the other. The detrimental effect of these mutations on ALG1 protein function is demonstrated in a complementation assay. This novel type of congenital disorder of glycosylation should be reffered to as CDG-Ik
S258L
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patient with congenital disorder of glycosylation is compound heterozygous for three mutations in the ALG1 gene, leading to the amino acid substitutions S150R and D429E on one allele and S258L on the other. The detrimental effect of these mutations on ALG1 protein function is demonstrated in a complementation assay. This novel type of congenital disorder of glycosylation should be reffered to as CDG-Ik
S258L
mutation in the semiconserved regions of the HMT-1 gene causes drastically reduced enzyme activity, leading to a severe disease with death in early infancy
S258L
the mutation is associated with congenital disorders of glycosylation
additional information
genotyping 10 single nucleotide polymorphisms from gene ALG1 are identified using the Japanese case-control sample (1808 schizophrenics and 2170 matched controls). Genotype-phenotype correlation analysis in schizophrenia patients, overview
additional information
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genotyping 10 single nucleotide polymorphisms from gene ALG1 are identified using the Japanese case-control sample (1808 schizophrenics and 2170 matched controls). Genotype-phenotype correlation analysis in schizophrenia patients, overview
additional information
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the molecular nature of severe multisystemic disorder with a recurrent nonimmune hydrops fetalis is identified as deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase caused by the C773T transition
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expression in Saccharomyces cerevisiae
gene ALG1, located on chromosome 16p13.3, genomic structure, genotyping. Gene-gene interaction analysis of genes ALG1 and WDR3
gene HMT-1, DNA and amino acid sequence determination and analysis, cloning from HeLa cells, subcloning in Escherichia coli strain JM109. Detection of potential cis-acting motifs in a 1 kb region upstream from initiation codon of the HMT-1 and analysis of transcriptional regulation of gene HMT-1, determination of initiation site for the HMT-1 transcription, overview. Semi-quantitative RT-PCR enzyme expression analysis. Expression profile of the HMT-1 among various tissues, overview
glycosylation and growth of Alg1-deficient PRY56 yeast cells, showing a temperature-sensitive phenotype, can be restored by the human wild-type allele, only slight restoration is observed after transformation with the patients allelles. One patient has homozygous point mutation S258L, the other patient is compound heterozygous for the mutations S258L and E342O. Mutation in the semiconserved regions of the HMT-1 gene causes drastically reduced enzyme activity, leading to a severe disease with death in early infancy
expression of wild-type and mutant hALG1 in Saccharomyces cerevisiae alg1-1 strain
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patient with congenital disorder of glycosylation is compound heterozygous for three mutations in the ALG1 gene, leading to the amino acid substitutions S150R and D429E on one allele and S258L on the other. The detrimental effect of these mutations on ALG1 protein function is demonstrated in a complementation assay. This novel type of congenital disorder of glycosylation should be reffered to as CDG-Ik
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Schwarz, M.; Thiel, C.; Lubbehusen, J.; Dorland, B.; de Koning, T.; von Figura, K.; Lehle, L.; Korner, C.
Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik
Am. J. Hum. Genet.
74
472-481
2004
Homo sapiens
brenda
Kranz, C.; Denecke, J.; Lehle, L.; Sohlbach, K.; Jeske, S.; Meinhardt, F.; Rossi, R.; Gudowius, S.; Marquardt, T.
Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I
Am. J. Hum. Genet.
74
545-551
2004
Homo sapiens (Q9BT22), Homo sapiens
brenda
Takahashi, T.; Honda, R.; Nishikawa, Y.
Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1
Glycobiology
10
321-327
2000
Homo sapiens (Q9BT22), Homo sapiens
brenda
Grubenmann, C.E.; Frank, C.G.; Huelsmeier, A.J.; Schollen, E.; Matthijs, G.; Mayatepek, E.; Berger, E.G.; Aebi, M.; Hennet, T.
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik
Hum. Mol. Genet.
13
535-542
2004
Homo sapiens
brenda
Dupre, T.; Vuillaumier-Barrot, S.; Chantret, I.; Yaye, H.S.; Le Bizec, C.; Afenjar, A.; Altuzarra, C.; Barnerias, C.; Burglen, L.; de Lonlay, P.; Feillet, F.; Napuri, S.; Seta, N.; Moore, S.E.
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations
J. Med. Genet.
47
729-735
2010
Homo sapiens (Q9BT22)
brenda
Takahashi, T.; Nedachi, T.; Etoh, T.; Tachikawa, H.; Gao, X.D.
Identification and characterization of transcriptional control region of the human beta 1,4-mannosyltransferase gene
Cytotechnology
69
417-434
2017
Homo sapiens (Q9BT22), Homo sapiens
brenda
Kobayashi, M.; Jitoku, D.; Iwayama, Y.; Yamamoto, N.; Toyota, T.; Suzuki, K.; Kikuchi, M.; Hashimoto, T.; Kanahara, N.; Kurumaji, A.; Yoshikawa, T.; Nishikawa, T.
Association studies of WD repeat domain 3 and chitobiosyldiphosphodolichol beta-mannosyltransferase genes with schizophrenia in a Japanese population
PLoS ONE
13
e0190991
2018
Homo sapiens (Q9BT22), Homo sapiens, Rattus norvegicus (D4A5S6)
brenda