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

Gene ID: 144245, updated on 27-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
  • 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 Variation Viewer (GRCh37.p13)

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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