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Aliases for ALG10B Gene

Aliases for ALG10B Gene

  • ALG10B, Alpha-1,2-Glucosyltransferase 2 3 5
  • Potassium Channel Regulator 1 2 3 4
  • Dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dolichol Alpha-1,2- Glucosyltransferase 2 3
  • Asparagine-Linked Glycosylation Protein 10 Homolog B 3 4
  • Alpha-1,2-Glucosyltransferase ALG10-A 3 4
  • Alpha-2-Glucosyltransferase ALG10-B 3 4
  • KCR1 3 4
  • Asparagine-Linked Glycosylation 10, Alpha-1,2-Glucosyltransferase Homolog B (Yeast) 2
  • Asparagine-Linked Glycosylation 10 Homolog B (Yeast, Alpha-1,2-Glucosyltransferase) 3
  • Putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol Alpha-1,2-Glucosyltransferase 3
  • Asparagine-Linked Glycosylation 10, Alpha-1,2-Glucosyltransferase Homolog B 3
  • Putative Alpha-1,2-Glucosyltransferase ALG10-B 3
  • Modifier Of The HERG Potassium Channel 3
  • EC 2.4.1.256 4
  • EC 2.4.1.16 61
  • EC 2.4.1 61
  • ALG10 3

External Ids for ALG10B Gene

Previous GeneCards Identifiers for ALG10B Gene

  • GC12U900492
  • GC12P036998
  • GC12P038710
  • GC12P035735

Summaries for ALG10B Gene

GeneCards Summary for ALG10B Gene

ALG10B (ALG10B, Alpha-1,2-Glucosyltransferase) is a Protein Coding gene. Diseases associated with ALG10B include 3-M Syndrome 1 and Amyotrophic Lateral Sclerosis Type 5. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. GO annotations related to this gene include transferase activity, transferring hexosyl groups and dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity. An important paralog of this gene is ALG10.

UniProtKB/Swiss-Prot for ALG10B Gene

  • Putative alpha-1,2-glucosyltransferase, which adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(2)Man(9)GlcNAc(2)-PP-Dol (By similarity). When coupled to KCNH2 may reduce KCNH2 sensitivity to classic proarrhythmic drug blockade, possibly by mediating glycosylation of KCNH2 (PubMed:14525949). Has a role in maintenance of cochlear outer hair cell function (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALG10B Gene

Genomics for ALG10B Gene

Regulatory Elements for ALG10B Gene

Enhancers for ALG10B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F038315 0.5 ENCODE 14.1 +0.2 206 1.7 PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF302 CBX5 ALG10B CPNE8 GC12P038329
GH12F038903 0.6 ENCODE 14 +588.8 588798 4.5 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 CBX5 ZNF207 ALG10B ENSG00000257718 ENSG00000258119
GH12F038282 0.2 ENCODE 0.3 -33.5 -33525 0.2 ENSG00000253016 GC12M038276 ALG10B
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ALG10B on UCSC Golden Path with GeneCards custom track

Promoters for ALG10B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000087847 323 2200 PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF302 CBX5

Genomic Location for ALG10B Gene

Chromosome:
12
Start:
38,316,578 bp from pter
End:
38,329,728 bp from pter
Size:
13,151 bases
Orientation:
Plus strand

Genomic View for ALG10B Gene

Genes around ALG10B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALG10B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALG10B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALG10B Gene

Proteins for ALG10B Gene

  • Protein details for ALG10B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5I7T1-AG10B_HUMAN
    Recommended name:
    Putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase
    Protein Accession:
    Q5I7T1
    Secondary Accessions:
    • B2RPF4

    Protein attributes for ALG10B Gene

    Size:
    473 amino acids
    Molecular mass:
    55448 Da
    Quaternary structure:
    • Interacts with KCNH1 and KCNH2.

neXtProt entry for ALG10B Gene

Selected DME Specific Peptides for ALG10B Gene

Post-translational modifications for ALG10B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALG10B Gene

Domains & Families for ALG10B Gene

Gene Families for ALG10B Gene

Protein Domains for ALG10B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALG10B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5I7T1

UniProtKB/Swiss-Prot:

AG10B_HUMAN :
  • Belongs to the ALG10 glucosyltransferase family.
Family:
  • Belongs to the ALG10 glucosyltransferase family.
genes like me logo Genes that share domains with ALG10B: view

Function for ALG10B Gene

Molecular function for ALG10B Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Dolichyl beta-D-glucosyl phosphate + D-Glc-alpha-(1->3)-D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = D-Glc-alpha-(1->2)-D-Glc-alpha-(1->3)-D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.
UniProtKB/Swiss-Prot Function:
Putative alpha-1,2-glucosyltransferase, which adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(2)Man(9)GlcNAc(2)-PP-Dol (By similarity). When coupled to KCNH2 may reduce KCNH2 sensitivity to classic proarrhythmic drug blockade, possibly by mediating glycosylation of KCNH2 (PubMed:14525949). Has a role in maintenance of cochlear outer hair cell function (By similarity).

Enzyme Numbers (IUBMB) for ALG10B Gene

Gene Ontology (GO) - Molecular Function for ALG10B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004583 dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with ALG10B: view
genes like me logo Genes that share phenotypes with ALG10B: view

Animal Model Products

miRNA for ALG10B Gene

miRTarBase miRNAs that target ALG10B

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ALG10B Gene

Localization for ALG10B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALG10B Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALG10B Gene COMPARTMENTS Subcellular localization image for ALG10B gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3

Gene Ontology (GO) - Cellular Components for ALG10B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ALG10B: view

Pathways & Interactions for ALG10B Gene

genes like me logo Genes that share pathways with ALG10B: view

UniProtKB/Swiss-Prot Q5I7T1-AG10B_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for ALG10B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006488 dolichol-linked oligosaccharide biosynthetic process IEA --
genes like me logo Genes that share ontologies with ALG10B: view

No data available for SIGNOR curated interactions for ALG10B Gene

Drugs & Compounds for ALG10B Gene

(2) Additional Compounds for ALG10B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolichol-20
  • Dolichol
  • Dolichol (C100)
  • Dolichol 20
  • Dolichol phosphate
  • Dolichyl phosphate
2067-66-5
Dolichyl b-D-glucosyl phosphate
  • Dolichol monophosphate glucose
  • Dolichyl b-D-glucosyl phosphate
  • Dolichyl b-delta-glucosyl phosphate
  • Dolichyl beta-D-glucosyl phosphate
  • Dolichyl beta-delta-glucosyl phosphate
220496-27-5
genes like me logo Genes that share compounds with ALG10B: view

Transcripts for ALG10B Gene

mRNA/cDNA for ALG10B Gene

(3) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ALG10B Gene

ALG10B, alpha-1,2-glucosyltransferase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALG10B Gene

No ASD Table

Relevant External Links for ALG10B Gene

GeneLoc Exon Structure for
ALG10B
ECgene alternative splicing isoforms for
ALG10B

Expression for ALG10B Gene

mRNA expression in normal human tissues for ALG10B Gene

NURSA nuclear receptor signaling pathways regulating expression of ALG10B Gene:

ALG10B

SOURCE GeneReport for Unigene cluster for ALG10B Gene:

Hs.259305

mRNA Expression by UniProt/SwissProt for ALG10B Gene:

Q5I7T1-AG10B_HUMAN
Tissue specificity: Highly expressed in heart, placenta, liver, kidney and pancreas. Weakly expressed in lung, skeletal muscle and brain.
genes like me logo Genes that share expression patterns with ALG10B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for ALG10B Gene

Orthologs for ALG10B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ALG10B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALG10B 34 35
  • 99.22 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 92 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ALG10 35
  • 91 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Alg10b 35
  • 85 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 78 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 74 (a)
OneToMany
chicken
(Gallus gallus)
Aves ALG10 35
  • 68 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 69 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii alg10 35
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Alg10 35
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-179 34 35
  • 47.8 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DIE2 35 37
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToMany
Species where no ortholog for ALG10B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ALG10B Gene

ENSEMBL:
Gene Tree for ALG10B (if available)
TreeFam:
Gene Tree for ALG10B (if available)

Paralogs for ALG10B Gene

Paralogs for ALG10B Gene

(1) SIMAP similar genes for ALG10B Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ALG10B: view

Variants for ALG10B Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ALG10B Gene

AG10B_HUMAN-Q5I7T1
Genetic variations in ALG10B may reduce susceptibility to acquired long QT syndrome.

Sequence variations from dbSNP and Humsavar for ALG10B Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1046061 -- 38,329,244(+) GTCAT(C/G)ATACC utr-variant-3-prime
rs1046063 -- 38,329,271(+) TGTAA(A/T)TATGA utr-variant-3-prime
rs1046065 -- 38,329,455(+) TGGTT(A/T)AACAG utr-variant-3-prime
rs1046066 -- 38,329,475(+) TAGAT(A/T)TTTGA utr-variant-3-prime
rs1046067 -- 38,329,498(+) GGAAT(A/C)ACAAT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ALG10B Gene

Variant ID Type Subtype PubMed ID
dgv1467n100 CNV gain 25217958
dgv1468n100 CNV gain 25217958
dgv1485n100 CNV gain 25217958
dgv1487n100 CNV gain 25217958
dgv196n27 CNV gain 19166990
dgv2572n54 CNV gain 21841781
dgv285n67 CNV gain 20364138
esv2362578 CNV deletion 18987734
esv2422349 CNV duplication 17116639
esv2422488 CNV duplication 17116639
esv2745769 CNV deletion 23290073
esv2751097 CNV gain 17911159
esv2759893 CNV gain+loss 17122850
esv2761088 CNV gain 21179565
esv34542 CNV gain 17911159
esv3629224 CNV gain 21293372
esv3629225 CNV loss 21293372
esv3892188 CNV gain 25118596
nsv1122723 CNV deletion 24896259
nsv469356 CNV gain 19166990
nsv558350 CNV gain 21841781
nsv558574 CNV gain 21841781
nsv818910 CNV gain 17921354
nsv826332 CNV gain 20364138
nsv826335 CNV gain 20364138
nsv8963 CNV loss 18304495
nsv976602 CNV duplication 23825009

Variation tolerance for ALG10B Gene

Residual Variation Intolerance Score: 94.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.74; 57.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALG10B Gene

Human Gene Mutation Database (HGMD)
ALG10B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALG10B

Disorders for ALG10B Gene

MalaCards: The human disease database

(4) MalaCards diseases for ALG10B Gene - From: DISEASES

Disorder Aliases PubMed IDs
3-m syndrome 1
  • 3-m syndrome
amyotrophic lateral sclerosis type 5
  • als5
hemorrhagic cystitis
long qt syndrome 1
  • long qt syndrome 1, acquired
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ALG10B

Genetic Association Database (GAD)
ALG10B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALG10B
genes like me logo Genes that share disorders with ALG10B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ALG10B Gene

Publications for ALG10B Gene

  1. In vivo identification of genes that modify ether-a-go-go-related gene activity in Caenorhabditis elegans may also affect human cardiac arrhythmia. (PMID: 15280551) Petersen C.I. … Balser J.R. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 22 64
  2. HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. (PMID: 19483685) Daly A.K. … . (Nat. Genet. 2009) 3 46 64
  3. The IKr drug response is modulated by KCR1 in transfected cardiac and noncardiac cell lines. (PMID: 14525949) Kupershmidt S. … Balser J.R. (FASEB J. 2003) 3 4 64
  4. A KCR1 variant implicated in susceptibility to the long QT syndrome. (PMID: 20950623) Hayashi K. … Yamagishi M. (J. Mol. Cell. Cardiol. 2011) 3 64
  5. Strategy for a genetic assessment of antipsychotic and antidepressant-related proarrhythmia. (PMID: 18855674) Drago A. … Serretti A. (Curr. Med. Chem. 2008) 22 64

Products for ALG10B Gene

Sources for ALG10B Gene

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