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

Gene ID: 84920, updated on 3-Apr-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
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Genomic context

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Location:
12p11.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (34022377..34028302)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (33899971..33905896)
105.20220307 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. 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
  2. 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
  3. Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate. Oriol R, et al. Mol Biol Evol, 2002 Sep. PMID 12200473
  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 (15) 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)

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

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_2023_10

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

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