My NCBISign In

Display Settings:

Format

Send to:

Choose Destination

    ALG1 asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) [ Homo sapiens ]

    Gene ID: 56052, updated on 12-May-2012
    Help top of page

    Summary

    Official Symbol
    ALG1provided by HGNC
    Official Full Name
    asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)provided by HGNC
    Primary source
    HGNC:18294
    Locus tag
    PSEC0061
    See related
    Ensembl:ENSG00000033011; HPRD:10437; MIM:605907; Vega:OTTHUMG00000129529
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HMT1; MT-1; CDG1K; HMAT1; HMT-1; Mat-1; hMat-1
    Summary
    The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]
    Help top of page

    Genomic context

    Location :
    16p13.3
    Sequence :
    Chromosome: 16; NC_000016.9 (5121810..5137380)
    See ALG1 in Epigenomics, MapViewer

    Chromosome 16 - NC_000016.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507589 Neighboring gene N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase Neighboring gene chromosome 16 open reading frame 89 Neighboring gene family with sequence similarity 86, member A Neighboring gene uncharacterized LOC100287538 Neighboring gene ribosomal protein S3a pseudogene 48

    Help top of page

    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
    Helptop of page

    Bibliography

    Related articles in PubMed

    1. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    2. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    3. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    4. Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. Dupré T, et al. J Med Genet, 2010 Nov. PMID 20679665.
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.

    See all (15) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. DNA sequencing of ALG1 revealed nine different mutations, seven of which have not been previously reported. Clinical presentations of deficiency are severe, with dysmorphias, CNS involvement and ocular disturbances
      Title: Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction
    Help top of page

    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Congenital disorder of glycosylation, type Ik

    Help top of page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:121033 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    Help top of page

    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the ALG1 gene: The ALG1 gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, , S.pombe, , N.crassa, A.thaliana, and rice.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    chitobiosyldiphosphodolichol beta-mannosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    mannosyltransferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    transferase activity, transferring glycosyl groups IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
    		  
    dolichol-linked oligosaccharide biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    lipopolysaccharide biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    post-translational protein modification TAS
    Traceable Author Statement
    more info
    		  
    protein N-linked glycosylation via asparagine TAS
    Traceable Author Statement
    more info
    		  
    protein glycosylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    Help top of page

    General protein information

    Preferred Names
    chitobiosyldiphosphodolichol beta-mannosyltransferase
    Names
    chitobiosyldiphosphodolichol beta-mannosyltransferase
    mannosyltransferase-1
    beta-1,4 mannosyltransferase
    beta-1,4-mannosyltransferase
    GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase
    asparagine-linked glycosylation protein 1 homolog
    GDP-mannose-dolichol diphosphochitobiose mannosyltransferase
    asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)
    NP_061982.3
    Help top of page

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009202.1 RefSeqGene

      Range
      5001..20571
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_019109.4 → NP_061982.3  chitobiosyldiphosphodolichol beta-mannosyltransferase

      Status: REVIEWED

      Source sequence(s)
      AA810665, AB019038, AC026458, DA879477
      Consensus CDS
      CCDS10528.1
      UniProtKB/Swiss-Prot
      Q9BT22
      Related
      ENSP00000262374, OTTHUMP00000159923, ENST00000262374, OTTHUMT00000251716
      Conserved Domains (2) summary
      cd03816
      Location:42 – 461
      Blast Score: 1717
      GT1_ALG1_like; This family is most closely related to the GT1 family of glycosyltransferases. The yeast gene ALG1 has been shown to function as a mannosyltransferase that catalyzes the formation of dolichol pyrophosphate (Dol-PP)-GlcNAc2Man from GDP-Man and ...
      PLN02275
      Location:42 – 424
      Blast Score: 1084
      PLN02275; transferase, transferring glycosyl groups

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000016.9 Reference GRCh37.p5 Primary Assembly

      Range
      5121810..5137380
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000148.1 Alternate HuRef

      Range
      5087870..5103521
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC026458.8 (60224..75690) None
    genomic CH471112.2 EAW85240.1
      EAW85241.1
    genomic CS051167.1 CAI72079.1
    mRNA AA810665.1 None
    mRNA AB019038.1 BAA90748.1
    mRNA AK075373.1 BAC11576.1
    mRNA AK298144.1 BAG60420.1
    mRNA AK311475.1 None
    mRNA AY359073.1 AAQ89432.1
    mRNA BC004402.1 AAH04402.1
    mRNA BC031095.1 AAH31095.1
    mRNA BC031873.2 None
    mRNA BM767933.1 None
    mRNA BQ002699.1 None
    mRNA CA455103.1 None
    mRNA CD366777.1 None
    mRNA DA879477.1 None
    other-genetic DQ895010.2 ABM85936.1
    other-genetic EU176309.1 ABW03760.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BT22.2 GenPept UniProtKB/Swiss-Prot:Q9BT22
    Help top of page

    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Links

      Links to other resources

      General information

      Related sites

      Feedback

      Subscription

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...