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

    Gene ID: 79053, updated on 8-Jul-2021

    Summary

    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
    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
    NEW
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    Genomic context

    See ALG8 in Genome Data Viewer
    Location:
    11q14.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (78100946..78139643, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (77811992..77850672, 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

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC2840

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in dolichol-linked oligosaccharide biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in mannosylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in oligosaccharide-lipid intermediate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein N-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein N-linked glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein N-linked glycosylation via asparagine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5028..43708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001007027.3NP_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
      Consensus CDS
      CCDS41692.1
      UniProtKB/Swiss-Prot
      Q9BVK2
      Related
      ENSP00000365326.3, ENST00000376156.7
      Conserved Domains (1) summary
      pfam03155
      Location:22455
      Alg6_Alg8; ALG6, ALG8 glycosyltransferase family
    2. NM_024079.5NP_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, ENST00000299626.10
      Conserved Domains (1) summary
      pfam03155
      Location:22508
      Alg6_Alg8; ALG6, ALG8 glycosyltransferase family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      78100946..78139643 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

      Related
      ENSP00000506421.1, ENST00000680761.1
      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

      Related
      ENSP00000506408.1, ENST00000680829.1

    RNA

    1. XR_950044.3 RNA Sequence

      Related
      ENST00000679697.1
    2. XR_950045.3 RNA Sequence

      Related
      ENST00000679648.1
    3. XR_428923.4 RNA Sequence

      Related
      ENST00000680866.1
    4. XR_001747956.1 RNA Sequence

      Related
      ENST00000681351.1

    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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