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Aliases for POGLUT1 Gene

Aliases for POGLUT1 Gene

  • Protein O-Glucosyltransferase 1 2 3 5
  • Myelodysplastic Syndromes Relative Protein 3 4
  • KTEL (Lys-Tyr-Glu-Leu) Containing 1 2 3
  • O-Glucosyltransferase Rumi Homolog 3 4
  • KTEL Motif-Containing Protein 1 3 4
  • Protein O-Xylosyltransferase 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
  • X 010 Protein 3
  • 9630046K23Rik 3
  • EC 4
  • EC 2.4.1.- 4
  • KDELCL1 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 Dowling-Degos Disease 4 and Dowling-Degos Disease 1. Among its related pathways are Pre-NOTCH Expression and Processing and Signaling by GPCR. GO annotations related to this gene include protein xylosyltransferase activity and glucosyltransferase activity. An important paralog of this gene is KDELC1.

UniProtKB/Swiss-Prot for POGLUT1 Gene

  • Dual specificity glycosyltransferase. Catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to EGF repeats, such as those found in F7, F9 and NOTCH2, on the consensus sequence C-X-S-X-P-C. Positively regulates Notch signaling without affecting Notch ligand binding.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POGLUT1 Gene

Genomics for POGLUT1 Gene

Regulatory Elements for POGLUT1 Gene

Enhancers for POGLUT1 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
GH03F119468 1.1 ENCODE 31.2 +0.2 188 2.2 HDGF ATF1 ARID4B SIN3A FEZF1 DMAP1 ZNF48 ZNF2 ETS1 YY1 POGLUT1 MIR198 TMEM39A CD80 TIMMDC1 ENSG00000272662
GH03F119462 1.1 ENCODE 30.6 -5.5 -5501 2.8 HDGF PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 POGLUT1 MIR198 TIMMDC1 TMEM39A GC03P119428
GH03F120347 1.1 ENCODE 20.5 +880.5 880490 3.4 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS TMEM39A LOC100130701 POGLUT1 GPR156 LOC442087 LRRC58
GH03F119416 0.8 ENCODE 27.9 -50.9 -50903 2.5 HDAC1 PKNOX1 CBX3 ATF1 ARNT TBL1XR1 CHAMP1 GATA2 CREM CEBPB POGLUT1 GC03P119428 GC03M119342 RNU6-1127P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around POGLUT1 on UCSC Golden Path with GeneCards custom track

Promoters for POGLUT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001371682 362 1401 HDGF ATF1 ARID4B SIN3A FEZF1 DMAP1 ZNF48 ZNF2 ETS1 YY1

Genomic Location for POGLUT1 Gene

119,468,938 bp from pter
119,494,708 bp from pter
25,771 bases
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 StructureGene Density

RefSeq DNA sequence for POGLUT1 Gene

Proteins for POGLUT1 Gene

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

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

    Protein attributes for POGLUT1 Gene

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

neXtProt entry for POGLUT1 Gene

Post-translational modifications for POGLUT1 Gene

  • Glycosylation at Asn 40, Asn 53, Asn 204, and Asn 373
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for POGLUT1 Gene

Domains & Families for POGLUT1 Gene

Gene Families for POGLUT1 Gene

Protein Domains for POGLUT1 Gene


Suggested Antigen Peptide Sequences for POGLUT1 Gene

Graphical View of Domain Structure for InterPro Entry



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

Function for POGLUT1 Gene

Molecular function for POGLUT1 Gene

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};
UniProtKB/Swiss-Prot CatalyticActivity:
Transfers a beta-D-xylosyl residue from UDP-D-xylose to the serine hydroxy group of an acceptor protein substrate.
UniProtKB/Swiss-Prot Function:
Dual specificity glycosyltransferase. Catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to EGF repeats, such as those found in F7, F9 and NOTCH2, on the consensus sequence C-X-S-X-P-C. Positively regulates Notch signaling without affecting Notch ligand binding.

Enzyme Numbers (IUBMB) 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 IDA 21081508
GO:0035252 UDP-xylosyltransferase activity IEA,IBA --
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

miRNA for POGLUT1 Gene

miRTarBase miRNAs that target POGLUT1

Inhibitory RNA Products

Flow Cytometry 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

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
extracellular 5
endoplasmic reticulum 5
golgi apparatus 2
plasma membrane 1
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for POGLUT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen IEA,IDA 16524674
GO:0070062 extracellular exosome IDA 23376485
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

UniProtKB/Swiss-Prot Q8NBL1-PGLT1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for POGLUT1 Gene

SIGNOR curated interactions for POGLUT1 Gene


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:0006664 glycolipid metabolic process IBA --
GO:0008593 regulation of Notch signaling pathway IEA --
genes like me logo Genes that share ontologies with POGLUT1: view

Transcripts for POGLUT1 Gene

Unigene Clusters for POGLUT1 Gene

Protein O-glucosyltransferase 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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: -
SP6: -

Relevant External Links for POGLUT1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for POGLUT1 Gene

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

Protein tissue co-expression partners for POGLUT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of POGLUT1 Gene:


SOURCE GeneReport for Unigene cluster for POGLUT1 Gene:


mRNA Expression by UniProt/SwissProt for POGLUT1 Gene:

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).
genes like me logo Genes that share expression patterns with POGLUT1: view

Primer Products

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
(Pan troglodytes)
Mammalia POGLUT1 34 35
  • 99.91 (n)
(Canis familiaris)
Mammalia POGLUT1 34 35
  • 94.14 (n)
(Bos Taurus)
Mammalia POGLUT1 34 35
  • 92.6 (n)
(Rattus norvegicus)
Mammalia Poglut1 34
  • 89.87 (n)
(Mus musculus)
Mammalia Poglut1 34 16 35
  • 88.8 (n)
(Monodelphis domestica)
Mammalia POGLUT1 35
  • 78 (a)
(Gallus gallus)
Aves POGLUT1 34 35
  • 75.31 (n)
(Anolis carolinensis)
Reptilia POGLUT1 35
  • 69 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7118 34
(Danio rerio)
Actinopterygii poglut1 34 35
  • 66.85 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6926 34
fruit fly
(Drosophila melanogaster)
Insecta rumi 34 35
  • 60.22 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta CAP10_ANOGA 34
  • 57.93 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G23850 34
  • 44.48 (n)
(Oryza sativa)
Liliopsida Os02g0642700 34
  • 43.79 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.923 35
  • 52 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3830 34
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

Gene Tree for POGLUT1 (if available)
Gene Tree for POGLUT1 (if available)

Paralogs for POGLUT1 Gene

Paralogs for POGLUT1 Gene

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

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

Variants for POGLUT1 Gene

Sequence variations from dbSNP and Humsavar for POGLUT1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs587777293 Pathogenic 119,469,032(+) GTGGT(A/G)GGCTA nc-transcript-variant, upstream-variant-2KB, reference, stop-gained, utr-variant-5-prime
rs587777294 Pathogenic 119,486,846(+) CAGAA(C/T)GAGAT nc-transcript-variant, reference, stop-gained
rs587777295 Pathogenic 119,490,549(+) TCCCC(A/C)GGTAT splice-acceptor-variant
rs587777296 Pathogenic 119,490,588(+) TTTCC(-/C)GGTTT nc-transcript-variant, reference, frameshift-variant
rs587777297 Pathogenic 119,490,588(+) GTTTC(C/T)GGTTT nc-transcript-variant, reference, missense

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)

Relevant External Links for POGLUT1 Gene

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

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

Disorders for POGLUT1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for POGLUT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dowling-degos disease 4
  • ddd4
dowling-degos disease 1
  • reticulate acropigmentation of kitamura
pigmentation disease
  • pigmentation disorders
- elite association - COSMIC cancer census association via MalaCards


  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links 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 64
  2. Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. (PMID: 24387993) Basmanav F.B. … Betz R.C. (Am. J. Hum. Genet. 2014) 3 4 64
  3. Universal phosphatase-coupled glycosyltransferase assay. (PMID: 21081508) Wu Z.L. … Jiang W. (Glycobiology 2011) 3 4 64
  4. Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase. (PMID: 21949356) Takeuchi H. … Haltiwanger R.S. (Proc. Natl. Acad. Sci. U.S.A. 2011) 3 4 64
  5. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PMID: 16303743) Otsuki T. … Isogai T. (DNA Res. 2005) 3 4 64

Products for POGLUT1 Gene

Sources for POGLUT1 Gene

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