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

Gene ID: 144245, updated on 22-Sep-2022

Summary

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 transferase activity. Involved in positive regulation of inward rectifier potassium channel activity; positive regulation of protein glycosylation; and protein glycosylation. Located in endoplasmic reticulum. Implicated in long QT syndrome 2. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 2.3), placenta (RPKM 2.2) and 25 other tissues See more
Orthologs
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Genomic context

See ALG10B in Genome Data Viewer
Location:
12q12
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (38316687..38329721)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (38266432..38279334)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (38710576..38723523)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 166 member A pseudogene Neighboring gene neurofibromin 1 pseudogene 12 Neighboring gene uncharacterized LOC124902917 Neighboring gene copine 8 Neighboring gene CPNE8 antisense RNA 1

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

Phenotypes

Associated conditions

Description Tests
Long QT syndrome 2
MedGen: C3150943 OMIM: 613688 GeneReviews: Long QT Syndrome
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EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
putative 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 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_001013620.4NP_001013642.2  putative 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
    Related
    ENSP00000310120.4, ENST00000308742.9
    Conserved Domains (1) summary
    pfam04922
    Location:32427
    DIE2_ALG10; DIE2/ALG10 family
  2. NM_001308340.2NP_001295269.2  putative 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
    F8VXJ0
    Related
    ENSP00000448819.1, ENST00000551464.1
    Conserved Domains (1) summary
    pfam04922
    Location:32123
    DIE2_ALG10; DIE2/ALG10 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_005268665.5XP_005268722.1  putative 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

    Conserved Domains (1) summary
    pfam04922
    Location:1367
    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)