POGLUT1 Gene (Protein Coding)

Protein O-Glucosyltransferase 1

GC03P119468
GIFtS:
40
This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue... See more...

Aliases for POGLUT1 Gene

Aliases for POGLUT1 Gene

  • Protein O-Glucosyltransferase 1 2 3 4 5
  • Myelodysplastic Syndromes Relative Protein 3 4
  • Protein O-Xylosyltransferase POGLUT1 3 4
  • KTEL (Lys-Tyr-Glu-Leu) Containing 1 2 3
  • O-Glucosyltransferase Rumi Homolog 3 4
  • KTEL Motif-Containing Protein 1 3 4
  • CAP10-Like 46 KDa Protein 3 4
  • KDELC Family Like 1 2 3
  • C3orf9 3 4
  • KTELC1 3 4
  • HCLP46 3 4
  • CLP46 3 4
  • MDSRP 3 4
  • HRumi 3 4
  • Chromosome 3 Open Reading Frame 9 2
  • Protein O-Xylosyltransferase 3
  • 9630046K23Rik 3
  • X 010 Protein 3
  • EC 2.4.2.26 4
  • EC 2.4.1.- 4
  • KDELCL1 3
  • LGMDR21 3
  • LGMD2Z 3
  • MDS010 3
  • Rumi 3

External Ids for POGLUT1 Gene

Previous HGNC Symbols for POGLUT1 Gene

  • C3orf9
  • KTELC1

Previous GeneCards Identifiers for POGLUT1 Gene

  • GC03P119188

Summaries for POGLUT1 Gene

Entrez Gene Summary for POGLUT1 Gene

  • This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

GeneCards Summary for POGLUT1 Gene

POGLUT1 (Protein O-Glucosyltransferase 1) is a Protein Coding gene. Diseases associated with POGLUT1 include Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 and Dowling-Degos Disease 4. Among its related pathways are Pre-NOTCH Expression and Processing and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein xylosyltransferase activity and glucosyltransferase activity. An important paralog of this gene is POGLUT2.

UniProtKB/Swiss-Prot Summary for POGLUT1 Gene

  • Dual specificity glycosyltransferase that catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to a serine residue found in the consensus sequence of C-X-S-X-P-C (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322). Specifically targets extracellular EGF repeats of protein such as CRB2, F7, F9 and NOTCH2 (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322). Acts as a positive regulator of Notch signaling by mediating O-glucosylation of Notch, leading to regulate muscle development (PubMed:27807076). Notch glucosylation does not affect Notch ligand binding (PubMed:21490058). Required during early development to promote gastrulation: acts by mediating O-glucosylation of CRB2, which is required for CRB2 localization to the cell membrane (By similarity).

Additional gene information for POGLUT1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POGLUT1 Gene

Genomics for POGLUT1 Gene

GeneHancer (GH) Regulatory Elements for POGLUT1 Gene

Promoters and enhancers for POGLUT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POGLUT1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POGLUT1

Genomic Locations for POGLUT1 Gene

Genomic Locations for POGLUT1 Gene
chr3:119,468,938-119,494,708
(GRCh38/hg38)
Size:
25,771 bases
Orientation:
Plus strand
chr3:119,187,785-119,213,555
(GRCh37/hg19)
Size:
25,771 bases
Orientation:
Plus strand

Genomic View for POGLUT1 Gene

Genes around POGLUT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POGLUT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POGLUT1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for POGLUT1 Gene

Proteins for POGLUT1 Gene

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  • Protein details for POGLUT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBL1-PGLT1_HUMAN
    Recommended name:
    Protein O-glucosyltransferase 1
    Protein Accession:
    Q8NBL1
    Secondary Accessions:
    • B2RD13
    • Q53GJ4
    • Q8N2T1

    Protein attributes for POGLUT1 Gene

    Size:
    392 amino acids
    Molecular mass:
    46189 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for POGLUT1 Gene

neXtProt entry for POGLUT1 Gene

Protein Expression for POGLUT1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for POGLUT1 Gene

  • Glycosylation at Asn40, Asn53, Asn204, and Asn373
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PGLT1_HUMAN (1663)

Other Protein References for POGLUT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for POGLUT1 Gene

Domains & Families for POGLUT1 Gene

Gene Families for POGLUT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for POGLUT1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for POGLUT1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53000, highly similar to CAP10-like 46 kDa protein (B4DVA9_HUMAN)
  • Myelodysplastic syndromes relative protein (PGLT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NBL1

UniProtKB/Swiss-Prot:

PGLT1_HUMAN :
  • Belongs to the glycosyltransferase 90 family.
Family:
  • Belongs to the glycosyltransferase 90 family.
genes like me logo Genes that share domains with POGLUT1: view

Function for POGLUT1 Gene

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  2. CRISPR
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Molecular function for POGLUT1 Gene

UniProtKB/Swiss-Prot Function:
Dual specificity glycosyltransferase that catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to a serine residue found in the consensus sequence of C-X-S-X-P-C (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322). Specifically targets extracellular EGF repeats of protein such as CRB2, F7, F9 and NOTCH2 (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322). Acts as a positive regulator of Notch signaling by mediating O-glucosylation of Notch, leading to regulate muscle development (PubMed:27807076). Notch glucosylation does not affect Notch ligand binding (PubMed:21490058). Required during early development to promote gastrulation: acts by mediating O-glucosylation of CRB2, which is required for CRB2 localization to the cell membrane (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-seryl-[protein] + UDP-alpha-D-xylose = 3-O-(beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:50192, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:12567, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:57632, ChEBI:CHEBI:58223, ChEBI:CHEBI:132085; EC=2.4.2.26; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-seryl-[protein] + UDP-alpha-D-glucose = 3-O-(beta-D-glucosyl)-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:58116, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:15072, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:58223, ChEBI:CHEBI:58885, ChEBI:CHEBI:140576; Evidence={ECO:0000269 PubMed:21490058, ECO:0000269 PubMed:21949356};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=72 uM for UDP-Glc {ECO:0000269 PubMed:21081508}; Vmax=7.6 pmol/min/ug enzyme {ECO:0000269 PubMed:21081508};

Enzyme Numbers (IUBMB) for POGLUT1 Gene

Phenotypes From GWAS Catalog for POGLUT1 Gene

Gene Ontology (GO) - Molecular Function for POGLUT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030158 protein xylosyltransferase activity IEA --
GO:0035251 UDP-glucosyltransferase activity IMP,IBA 27807076
GO:0035252 UDP-xylosyltransferase activity IBA,IMP 27807076
genes like me logo Genes that share ontologies with POGLUT1: view
genes like me logo Genes that share phenotypes with POGLUT1: view

Human Phenotype Ontology for POGLUT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for POGLUT1

CRISPR Products

miRNA for POGLUT1 Gene

miRTarBase miRNAs that target POGLUT1

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for POGLUT1 Gene

Localization for POGLUT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POGLUT1 Gene

Endoplasmic reticulum lumen.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POGLUT1 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 4
plasma membrane 2
extracellular 2
golgi apparatus 2
cytoskeleton 1
nucleus 1
endosome 1
lysosome 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POGLUT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA --
GO:0005788 endoplasmic reticulum lumen IEA,IDA 16524674
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with POGLUT1: view

Pathways & Interactions for POGLUT1 Gene

genes like me logo Genes that share pathways with POGLUT1: view

Pathways by source for POGLUT1 Gene

1 KEGG pathway for POGLUT1 Gene

UniProtKB/Swiss-Prot Q8NBL1-PGLT1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

SIGNOR curated interactions for POGLUT1 Gene

Activates:

Gene Ontology (GO) - Biological Process for POGLUT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001756 somitogenesis IEA --
GO:0006486 protein glycosylation IEA --
GO:0006493 protein O-linked glycosylation IDA 21949356
GO:0007275 multicellular organism development IEA --
GO:0007369 gastrulation IEA --
genes like me logo Genes that share ontologies with POGLUT1: view

Drugs & Compounds for POGLUT1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for POGLUT1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for POGLUT1 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for POGLUT1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b
SP1: - - - - -
SP2: - -
SP3: - -
SP4: -
SP5:
SP6: -
SP7:

Relevant External Links for POGLUT1 Gene

GeneLoc Exon Structure for
POGLUT1

Expression for POGLUT1 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POGLUT1 Gene

mRNA expression in normal human tissues for POGLUT1 Gene
mRNA expression by BioGPS for POGLUT1 GenemRNA expression by GTEx for POGLUT1 Gene

Protein differential expression in normal tissues from HIPED for POGLUT1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.8), Adrenal (8.3), Testis (6.7), and Lymph node (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POGLUT1 Gene



Protein tissue co-expression partners for POGLUT1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POGLUT1

SOURCE GeneReport for Unigene cluster for POGLUT1 Gene:

Hs.231750

mRNA Expression by UniProt/SwissProt for POGLUT1 Gene:

Q8NBL1-PGLT1_HUMAN
Tissue specificity: Expressed in most adult tissues at different intensities. Abundantly expressed in liver. Expressed also in brain, heart, skeletal muscle, spleen, kidney, placenta, lung and peripheral blood leukocyte. Not detectable in colon, thymus and small intestine. Expressed in the epidermis, especially in the upper parts, stratum spinosum and stratum granulosum (at protein level).

Evidence on tissue expression from TISSUES for POGLUT1 Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POGLUT1 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
  • nervous
Regions:
Head and neck:
  • eye
  • eyelid
General:
  • skin
genes like me logo Genes that share expression patterns with POGLUT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for POGLUT1 Gene

Orthologs for POGLUT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POGLUT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia POGLUT1 31 30
  • 99.91 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia POGLUT1 31 30
  • 94.14 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia POGLUT1 31 30
  • 92.6 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Poglut1 30
  • 89.87 (n)
mouse
(Mus musculus)
 Mammalia Poglut1 17 31 30
  • 88.8 (n)
oppossum
(Monodelphis domestica)
 Mammalia POGLUT1 31
  • 78 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves POGLUT1 31 30
  • 75.31 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia POGLUT1 31
  • 69 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7118 30
zebrafish
(Danio rerio)
 Actinopterygii poglut1 31 30
  • 66.85 (n)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.6926 30
fruit fly
(Drosophila melanogaster)
 Insecta rumi 31 30
  • 60.22 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta CAP10_ANOGA 30
  • 57.93 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT5G23850 30
  • 44.48 (n)
rice
(Oryza sativa)
 Liliopsida Os02g0642700 30
  • 43.79 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.923 31
  • 52 (a)
 OneToOne
Cin.3830 30
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.3830 30
Species where no ortholog for POGLUT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for POGLUT1 Gene

ENSEMBL:
Gene Tree for POGLUT1 (if available)
TreeFam:
Gene Tree for POGLUT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POGLUT1: view image

Paralogs for POGLUT1 Gene

Paralogs for POGLUT1 Gene

(1) SIMAP similar genes for POGLUT1 Gene using alignment to 5 proteins:

  • PGLT1_HUMAN
  • B4DVA9_HUMAN
  • F8WDC4_HUMAN
  • F8WEW4_HUMAN
  • H7C5H0_HUMAN
genes like me logo Genes that share paralogs with POGLUT1: view

Variants for POGLUT1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POGLUT1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
639520 Uncertain Significance: not provided 119,490,573(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
650615 Uncertain Significance: not provided 119,480,142(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
655526 Uncertain Significance: not provided 119,471,380(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
664362 Uncertain Significance: not provided 119,486,927(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs1454300079 Dowling-Degos disease 4 (DDD4) [MIM:615696] p.Gly170Glu

Additional dbSNP identifiers (rs#s) for POGLUT1 Gene

Structural Variations from Database of Genomic Variants (DGV) for POGLUT1 Gene

Variant ID Type Subtype PubMed ID
nsv829695 CNV loss 17160897

Variation tolerance for POGLUT1 Gene

Residual Variation Intolerance Score: 33.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.56; 30.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POGLUT1 Gene

Human Gene Mutation Database (HGMD)
POGLUT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POGLUT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POGLUT1 Gene

Disorders for POGLUT1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for POGLUT1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PGLT1_HUMAN
  • Dowling-Degos disease 4 (DDD4) [MIM:615696]: A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas. {ECO:0000269 PubMed:24387993, ECO:0000269 PubMed:27479915}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy, limb-girdle, autosomal recessive 21 (LGMDR21) [MIM:617232]: A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMDR21 is characterized by young-adult onset. {ECO:0000269 PubMed:27807076}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for POGLUT1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with POGLUT1: view

No data available for Genatlas for POGLUT1 Gene

Publications for POGLUT1 Gene

  1. Cloning, expression and characterization of a novel human CAP10-like gene hCLP46 from CD34(+) stem/progenitor cells. (PMID: 16524674) Teng Y … Wang W (Gene 2006) 2 3 4 54
  2. Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. (PMID: 27479915) Wilson NJ … Smith FJ (The British journal of dermatology 2017) 3 4 54
  3. A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. (PMID: 27807076) Servián-Morilla E … Paradas C (EMBO molecular medicine 2016) 3 4 54
  4. Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. (PMID: 24387993) Basmanav FB … Betz RC (American journal of human genetics 2014) 3 4 54
  5. Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase. (PMID: 21949356) Takeuchi H … Haltiwanger RS (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4 54

ExternalLinks

View latest publications for POGLUT1 gene in Mastermind

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