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    ALG10B ALG10 alpha-1,2-glucosyltransferase B [ Homo sapiens (human) ]

    Gene ID: 144245, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ALG10Bprovided by HGNC
    Official Full Name
    ALG10 alpha-1,2-glucosyltransferase Bprovided by HGNC
    Primary source
    HGNC:HGNC:31088
    See related
    Ensembl:ENSG00000175548 MIM:603313; AllianceGenome:HGNC:31088
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KCR1; ALG10
    Summary
    Enables dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity. Involved in dolichol-linked oligosaccharide biosynthetic process. Located in plasma membrane. Is active in endoplasmic reticulum membrane. Implicated in long QT syndrome 2. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 2.3), placenta (RPKM 2.2) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ALG10B in Genome Data Viewer
    Location:
    12q12
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (38316687..38329721)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (38266432..38279334)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (38710576..38723523)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ciliary microtubule inner protein 2A pseudogene Neighboring gene neurofibromin 1 pseudogene 12 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:38709647-38710846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6195 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:38778512-38779711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:38902019-38902518 Neighboring gene Sharpr-MPRA regulatory region 819 Neighboring gene uncharacterized LOC124902917 Neighboring gene copine 8 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:39193759-39194354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4345 Neighboring gene CPNE8 antisense RNA 1

    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 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. Elucidation of ALG10B as a Novel Long-QT Syndrome-Susceptibility Gene. Zhou W, et al. Circ Genom Precis Med, 2023 Apr. PMID 37071726, Free PMC Article
    2. A KCR1 variant implicated in susceptibility to the long QT syndrome. Hayashi K, et al. J Mol Cell Cardiol, 2011 Jan. PMID 20950623
    3. HERG is protected from pharmacological block by alpha-1,2-glucosyltransferase function. Nakajima T, et al. J Biol Chem, 2007 Feb 23. PMID 17189275
    4. A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus). Probst FJ, et al. PLoS One, 2013. PMID 24303013, Free PMC Article
    5. In vivo identification of genes that modify ether-a-go-go-related gene activity in Caenorhabditis elegans may also affect human cardiac arrhythmia. Petersen CI, et al. Proc Natl Acad Sci U S A, 2004 Aug 10. PMID 15280551, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Associated conditions

    Description Tests
    Long QT syndrome 2
    MedGen: C3150943 OMIM: 613688 GeneReviews: Long QT Syndrome Overview
    		Compare labs

    EBI GWAS Catalog

    Description
    HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    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 dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in dolichol-linked oligosaccharide biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in protein N-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein N-linked glycosylation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in endoplasmic reticulum membrane IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    is_active_in lumenal side of endoplasmic reticulum membrane IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    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
    ALG10B, alpha-1,2-glucosyltransferase
    alpha-1,2-glucosyltransferase ALG10-A
    alpha-2-glucosyltransferase ALG10-B
    asparagine-linked glycosylation 10 homolog B (yeast, alpha-1,2-glucosyltransferase)
    asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B
    asparagine-linked glycosylation protein 10 homolog B
    dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase
    modifier of the HERG potassium channel
    potassium channel regulator 1
    putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase
    putative alpha-1,2-glucosyltransferase ALG10-B
    NP_001013642.2
    NP_001295269.2
    XP_005268722.1

    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.

    mRNA and Protein(s)

    1. NM_001013620.4 → NP_001013642.2  dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC117372
      Consensus CDS
      CCDS31772.1
      UniProtKB/Swiss-Prot
      B2RPF4, Q5I7T1
      UniProtKB/TrEMBL
      A8K8X3
      Related
      ENSP00000310120.4, ENST00000308742.9
      Conserved Domains (1) summary
      pfam04922
      Location:32 → 427
      DIE2_ALG10; DIE2/ALG10 family

    2. NM_001308340.2 → NP_001295269.2  dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in its 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC117372
      Consensus CDS
      CCDS76548.1
      UniProtKB/TrEMBL
      F5GZZ6, F8VXJ0
      Related
      ENSP00000448819.1, ENST00000551464.1
      Conserved Domains (1) summary
      pfam04922
      Location:32 → 123
      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
      38316687..38329721
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268665.5 → XP_005268722.1  dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase isoform X1

      See identical proteins and their annotated locations for XP_005268722.1

      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
      38266432..38279334
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5I7T1.2 GenPept UniProtKB/Swiss-Prot:Q5I7T1

    Gene LinkOut

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