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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 2.4.2.26 4
  • EC 2.4.1.- 4
  • KDELCL1 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. Among its related pathways are Signaling by GPCR and Signaling by NOTCH1. 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

Promoters for POGLUT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around POGLUT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for POGLUT1 Gene

Chromosome:
3
Start:
119,468,938 bp from pter
End:
119,494,708 bp from pter
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 StructureGene Density

RefSeq DNA sequence for POGLUT1 Gene

Proteins for POGLUT1 Gene

  • 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

neXtProt entry for POGLUT1 Gene

Proteomics data for POGLUT1 Gene at MOPED

Post-translational modifications for POGLUT1 Gene

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

Other Protein References for POGLUT1 Gene

Antibody Products

  • R&D Systems Antibodies for POGLUT1 (Protein O-Glucosyltransferase 1/POGLUT1)

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for POGLUT1 Gene

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

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:0035251 UDP-glucosyltransferase activity IEA,IDA 21081508
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

CRISPR Products

miRNA for POGLUT1 Gene

miRTarBase miRNAs that target POGLUT1

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
Jensen Localization Image for POGLUT1 Gene COMPARTMENTS Subcellular localization image for POGLUT1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
golgi apparatus 2
lysosome 1
mitochondrion 1
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for POGLUT1 Gene

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

Activates:

Gene Ontology (GO) - Biological Process for POGLUT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008593 regulation of Notch signaling pathway IEA --
GO:0072358 cardiovascular system development IEA --
genes like me logo Genes that share ontologies with POGLUT1: view

Drugs & Compounds for POGLUT1 Gene

No Compound Related Data Available

Transcripts for POGLUT1 Gene

Unigene Clusters for POGLUT1 Gene

Protein O-glucosyltransferase 1:
Representative Sequences:

CRISPR Products

miRNA Products

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: -
SP5:
SP6: -
SP7:

Relevant External Links for POGLUT1 Gene

GeneLoc Exon Structure for
POGLUT1
ECgene alternative splicing isoforms for
POGLUT1

Expression for POGLUT1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for POGLUT1 Gene



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

Protein tissue co-expression partners for POGLUT1 Gene

- Elite partner

Primer Products

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia POGLUT1 36
  • 100 (a)
OneToOne
POGLUT1 35
  • 99.91 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia POGLUT1 35
  • 92.6 (n)
  • 94.13 (a)
POGLUT1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POGLUT1 36
  • 85 (a)
OneToOne
POGLUT1 35
  • 94.14 (n)
  • 96.76 (a)
mouse
(Mus musculus)
Mammalia Poglut1 16
Poglut1 36
  • 91 (a)
OneToOne
Poglut1 35
  • 88.8 (n)
  • 93.28 (a)
oppossum
(Monodelphis domestica)
Mammalia POGLUT1 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Poglut1 35
  • 89.87 (n)
  • 93.55 (a)
chicken
(Gallus gallus)
Aves POGLUT1 35
  • 75.31 (n)
  • 75.67 (a)
POGLUT1 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POGLUT1 36
  • 69 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7118 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6926 35
zebrafish
(Danio rerio)
Actinopterygii poglut1 35
  • 66.85 (n)
  • 68.85 (a)
poglut1 36
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta CAP10_ANOGA 35
  • 57.93 (n)
  • 56.13 (a)
fruit fly
(Drosophila melanogaster)
Insecta rumi 35
  • 60.22 (n)
  • 61.29 (a)
rumi 36
  • 51 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G23850 35
  • 44.48 (n)
  • 29.22 (a)
rice
(Oryza sativa)
Liliopsida Os02g0642700 35
  • 43.79 (n)
  • 30.77 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3830 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.923 36
  • 52 (a)
OneToOne
Species with no ortholog for POGLUT1:
  • 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)

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
rs11556605 - 119,471,356(+) CAGGA(A/G)GATGA nc-transcript-variant, reference, missense
rs17852785 - 119,486,879(+) AAAAC(A/C)CAAAA nc-transcript-variant, reference, missense
rs1057365 -- 119,493,463(+) AATAT(A/C)TCAGG nc-transcript-variant, utr-variant-3-prime
rs2049756 -- 119,474,795(-) ATGGC(A/G)TGGTC intron-variant
rs3932422 -- 119,475,010(-) ATTTG(G/T)ATATT intron-variant

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

HapMap Linkage Disequilibrium report
POGLUT1
Human Gene Mutation Database (HGMD)
POGLUT1

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
  • dark dot disease
degos disease
  • atrophic papulosis, malignant
- 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}. 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:
POGLUT1
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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. MicroRNA-134 suppresses endometrial cancer stem cells by targeting POGLUT1 and Notch pathway proteins. (PMID: 25528443) Gao Y. … Huang Y. (FEBS Lett. 2015) 3
  4. 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
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3

Products for POGLUT1 Gene

Sources for POGLUT1 Gene

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