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    ALG10 ALG10 alpha-1,2-glucosyltransferase [ Homo sapiens (human) ]

    Gene ID: 84920, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ALG10provided by HGNC
    Official Full Name
    ALG10 alpha-1,2-glucosyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:23162
    See related
    Ensembl:ENSG00000139133 MIM:618355; AllianceGenome:HGNC:23162
    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
    DIE2; KCR1; ALG10A
    Summary
    This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. The rat protein homolog was shown to specifically modulate the gating function of the rat neuronal ether-a-go-go (EAG) potassium ion channel. [provided by RefSeq, Jan 2010]
    Expression
    Ubiquitous expression in testis (RPKM 2.3), thyroid (RPKM 2.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ALG10 in Genome Data Viewer
    Location:
    12p11.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (34022377..34028302)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (33899971..33905896)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (34175431..34181237)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369726 Neighboring gene RNA, U6 small nuclear 472, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr12:34175251-34175437 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:34201439-34202638 Neighboring gene uncharacterized LOC124902915 Neighboring gene MPRA-validated peak1673 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:34258479-34258980 Neighboring gene MPRA-validated peak1674 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4343 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:34295166-34295666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:34295667-34296167 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:34318092-34318285 Neighboring gene tubulin beta 8 class VIII pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. N-Glycan-dependent protein folding and endoplasmic reticulum retention regulate GPI-anchor processing. Liu YS, et al. J Cell Biol, 2018 Feb 5. PMID 29255114, Free PMC Article
    2. The ALG10 locus of Saccharomyces cerevisiae encodes the alpha-1,2 glucosyltransferase of the endoplasmic reticulum: the terminal glucose of the lipid-linked oligosaccharide is required for efficient N-linked glycosylation. Burda P, et al. Glycobiology, 1998 May. PMID 9597543
    3. KCR1, a membrane protein that facilitates functional expression of non-inactivating K+ currents associates with rat EAG voltage-dependent K+ channels. Hoshi N, et al. J Biol Chem, 1998 Sep 4. PMID 9722534
    4. The IKr drug response is modulated by KCR1 in transfected cardiac and noncardiac cell lines. Kupershmidt S, et al. FASEB J, 2003 Dec. PMID 14525949
    5. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. Seshadri S, et al. BMC Med Genet, 2007 Sep 19. PMID 17903297, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
    Submit: New GeneRIF Correction

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14751

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in dolichol-linked oligosaccharide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein N-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase
    Names
    alpha-1,2-glucosyltransferase ALG10-A
    alpha-2-glucosyltransferase ALG10-A
    alpha2-glucosyltransferase
    asparagine-linked glycosylation 10 homolog (yeast, alpha-1,2-glucosyltransferase)
    asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog
    asparagine-linked glycosylation protein 10 homolog A
    derepression of ITR1 expression 2 homolog
    dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase
    potassium channel regulator 1
    NP_116223.3
    XP_024304998.1
    XP_024304999.1
    XP_054229572.1
    XP_054229573.1

    NCBI Reference Sequences (RefSeq)

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    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_016389.1 RefSeqGene

      Range
      5216..11022
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_032834.4 → NP_116223.3  dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase

      See identical proteins and their annotated locations for NP_116223.3

      Status: REVIEWED

      Source sequence(s)
      AC046130, AJ312278, AK027657, BC090948, W05355
      Consensus CDS
      CCDS41769.1
      UniProtKB/Swiss-Prot
      Q5BKT4, Q6NS98, Q96DU0, Q96SM6
      UniProtKB/TrEMBL
      A8K8X3
      Related
      ENSP00000266483.2, ENST00000266483.7
      Conserved Domains (1) summary
      pfam04922
      Location:33 → 427
      DIE2_ALG10; DIE2/ALG10 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      34022377..34028302
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449230.2 → XP_024304998.1  dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase isoform X1

      UniProtKB/TrEMBL
      A8K8X3
      Conserved Domains (1) summary
      pfam04922
      Location:1 → 367
      DIE2_ALG10; DIE2/ALG10 family

    2. XM_024449231.2 → XP_024304999.1  dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase isoform X1

      UniProtKB/TrEMBL
      A8K8X3
      Conserved Domains (1) summary
      pfam04922
      Location:1 → 367
      DIE2_ALG10; DIE2/ALG10 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      33899971..33905896
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373597.1 → XP_054229572.1  dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase isoform X1

    2. XM_054373598.1 → XP_054229573.1  dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5BKT4.1 GenPept UniProtKB/Swiss-Prot:Q5BKT4

    Gene LinkOut

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

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