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    ALG8 ALG8, alpha-1,3-glucosyltransferase [ Homo sapiens (human) ]

    Gene ID: 79053, updated on 3-Jun-2018
    Official Symbol
    ALG8provided by HGNC
    Official Full Name
    ALG8, alpha-1,3-glucosyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:23161
    See related
    Ensembl:ENSG00000159063 MIM:608103; Vega:OTTHUMG00000166594
    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
    CDG1H; PCLD3
    Summary
    This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 16.1), adrenal (RPKM 9.8) and 25 other tissues See more
    Orthologs
    See ALG8 in Genome Data Viewer
    Location:
    11q14.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (78100942..78139653, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (77811988..77850699, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene NDUFC2-KCTD14 readthrough Neighboring gene uncharacterized LOC105369401 Neighboring gene NADH:ubiquinone oxidoreductase subunit C2 Neighboring gene thyroid hormone responsive Neighboring gene RNA, U6 small nuclear 126, pseudogene Neighboring gene KCTD21 antisense RNA 1 Neighboring gene potassium channel tetramerization domain containing 21 Neighboring gene ubiquitin specific peptidase 35 Neighboring gene GRB2 associated binding protein 2

    • 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

    • MGC2840

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    alpha-1,3-mannosyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    dolichol-linked oligosaccharide biosynthetic process TAS
    Traceable Author Statement
    more info
     
    mannosylation IEA
    Inferred from Electronic Annotation
    more info
     
    oligosaccharide-lipid intermediate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein N-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein N-linked glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase
    Names
    HUSSY-02
    asparagine-linked glycosylation 8 alpha-13-glucosyltransferase-like protein
    asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)
    asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)
    asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog
    asparagine-linked glycosylation protein 8 homolog
    dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase
    dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase
    dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase
    dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase
    dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl-alpha-1,3-glucosyltransferase
    NP_001007028.1
    NP_076984.2
    XP_005274304.1
    XP_011543554.1
    XP_016873763.1

    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_008926.1 RefSeqGene

      Range
      5001..43712
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001007027.2NP_001007028.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform b

      See identical proteins and their annotated locations for NP_001007028.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an additional segment in the coding region compared to variant 1. The resulting isoform (b) contains a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AA375954, AK098614, DB362104
      Consensus CDS
      CCDS41692.1
      UniProtKB/Swiss-Prot
      Q9BVK2
      Related
      ENSP00000365326.3, OTTHUMP00000233644, ENST00000376156.7, OTTHUMT00000390638
      Conserved Domains (1) summary
      pfam03155
      Location:22455
      Alg6_Alg8; ALG6, ALG8 glycosyltransferase family
    2. NM_024079.4NP_076984.2  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform a

      See identical proteins and their annotated locations for NP_076984.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript, but encodes the longer isoform (a).
      Source sequence(s)
      AK098614, DB362104
      Consensus CDS
      CCDS8258.1
      UniProtKB/Swiss-Prot
      Q9BVK2
      UniProtKB/TrEMBL
      A0A024R5K5
      Related
      ENSP00000299626.5, OTTHUMP00000233643, ENST00000299626.9, OTTHUMT00000390637
      Conserved Domains (1) summary
      pfam03155
      Location:22508
      Alg6_Alg8; ALG6, ALG8 glycosyltransferase family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      78100942..78139653 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545252.2XP_011543554.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform X3

      Conserved Domains (1) summary
      pfam03155
      Location:1420
      Alg6_Alg8; ALG6, ALG8 glycosyltransferase family
    2. XM_005274247.3XP_005274304.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform X1

      See identical proteins and their annotated locations for XP_005274304.1

      Conserved Domains (1) summary
      pfam03155
      Location:26499
      Alg6_Alg8; ALG6, ALG8 glycosyltransferase family
    3. XM_017018274.1XP_016873763.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform X2

    RNA

    1. XR_950044.3 RNA Sequence

    2. XR_950045.3 RNA Sequence

    3. XR_428923.4 RNA Sequence

      Related
      ENST00000526737.5
    4. XR_001747956.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001007028.1: Suppressed sequence

      Description
      NM_001007028.1: This RefSeq was permanently suppressed because the CDS incorrectly begins at an internal methionine. Correcting the CDS results in a truncated protein of 31 aa.
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