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    ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase [ Homo sapiens (human) ]

    Gene ID: 85365, updated on 19-Aug-2017
    Official Symbol
    ALG2provided by HGNC
    Official Full Name
    ALG2, alpha-1,3/1,6-mannosyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:23159
    See related
    Ensembl:ENSG00000119523 MIM:607905; Vega:OTTHUMG00000020355
    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
    CDG1I; CDGIi; CMS14; NET38; CMSTA3; hALPG2
    Summary
    This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
    Orthologs
    Location:
    9q22.33
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (99216425..99221964, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (101978707..101984246, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376174 Neighboring gene RNA, 7SL, cytoplasmic 794, pseudogene Neighboring gene Sec61 translocon beta subunit Neighboring gene RNA, 7SK small nuclear pseudogene 225

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ14511

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    alpha-1,3-mannosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    alpha-1,3-mannosyltransferase activity TAS
    Traceable Author Statement
    more info
     
    calcium-dependent protein binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    calcium-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein N-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    dolichol-linked oligosaccharide biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    dolichol-linked oligosaccharide biosynthetic process TAS
    Traceable Author Statement
    more info
     
    mannosylation IEA
    Inferred from Electronic Annotation
    more info
     
    protein glycosylation in endoplasmic reticulum IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    response to calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    alpha-1,3/1,6-mannosyltransferase ALG2
    Names
    GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
    GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase
    GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase
    alpha-1,3-mannosyltransferase ALG2
    asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)
    asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)
    asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog
    asparagine-linked glycosylation protein 2 homolog
    homolog of yeast ALG2
    NP_149078.1

    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_008928.1 RefSeqGene

      Range
      5001..10540
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_033087.3NP_149078.1  alpha-1,3/1,6-mannosyltransferase ALG2

      See identical proteins and their annotated locations for NP_149078.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript.
      Source sequence(s)
      AA017454, AB161356, AK075189, DB019023
      Consensus CDS
      CCDS6739.1
      UniProtKB/Swiss-Prot
      Q9H553
      UniProtKB/TrEMBL
      A0A024R184
      Related
      ENSP00000417764.1, OTTHUMP00000123474, ENST00000476832.1, OTTHUMT00000215080
      Conserved Domains (2) summary
      cd03805
      Location:16407
      GT1_ALG2_like; This family is most closely related to the GT1 family of glycosyltransferases. ALG2, a 1,3-mannosyltransferase, in yeast catalyzes the mannosylation of Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2) ...
      COG0438
      Location:17415
      RfaB; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]

    RNA

    1. NR_024532.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an additional exon, compared to variant 1, which results in a frameshift and early stop codon. The predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated decay (NMD).
      Source sequence(s)
      AA017454, AK074988, DA076693
      Related
      ENST00000238477.5, OTTHUMT00000053394

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      99216425..99221964 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      102125156..102130695 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_197973.2: Suppressed sequence

      Description
      NM_197973.2: This RefSeq was permanently suppressed because it initiates translation from an unsupported internal methionine compared to other transcripts at this locus. By correcting the CDS, NM_197973.2 is a nonsense-mediated m
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