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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
External Ids for POGLUT1 Gene
- HGNC: 22954
- Entrez Gene: 56983
- Ensembl: ENSG00000163389
- OMIM: 615618
- UniProtKB: Q8NBL1
Previous HGNC Symbols for POGLUT1 Gene
- C3orf9
- KTELC1
Previous GeneCards Identifiers for POGLUT1 Gene
- GC03P119188
Summaries 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 Other types of O-glycan biosynthesis and Pre-NOTCH Expression and Processing. 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
- Monarch Initiative
- Search for POGLUT1 at DataMed
- Search for POGLUT1 at HumanCyc
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
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:
-
- 3q13.33 by HGNC
- 3q13.33 by Entrez Gene
- 3q13.33 by Ensembl
POGLUT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B2RD13
- Q53GJ4
- Q8N2T1
Protein attributes for POGLUT1 Gene
- Size:
- 392 amino acids
- Molecular mass:
- 46189 Da
- Quaternary structure:
- No Data Available
Protein Expression for POGLUT1 Gene
Post-translational modifications for POGLUT1 Gene
Other Protein References for POGLUT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-POGLUT1 Antibody (HPA037855) and Anti-POGLUT1 Antibody (HPA037856)
- Creative Diagnostics Anti-POGLUT1 monoclonal antibody, clone FQS21675 and Anti-POGLUT1 (aa 16-65) polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for POGLUT1
- Novus Biologicals Antibodies for POGLUT1
- Invitrogen Antibodies for POGLUT1 (AFLGC-POGLUT1)
-
Biorbyt antibodies for POGLUT1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for POGLUT1
- Origene Custom Protein Services for POGLUT1
- ProSpec Recombinant Proteins for POGLUT1
-
Abcam proteins for POGLUT1
Assay Products
- RayBiotech Custom Human POGLUT1 ELISA
- antibodies-online: Show 3 available POGLUT1 Elisa Kits ranked by validation data
- Compare Top POGLUT1 Elisa Kits
-
Quality Products:
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
- Predicted secreted proteins
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- Family:
-
- Belongs to the glycosyltransferase 90 family.
Function for POGLUT1 Gene
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={ECO:0000269 PubMed:21081508, ECO:0000269 PubMed:28775322};.
- 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
| 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 | IBA,IMP | 27807076 |
| GO:0035252 | UDP-xylosyltransferase activity | IMP,IBA | 27807076 |
Phenotypes for POGLUT1 Gene
- MGI mutant phenotypes for POGLUT1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for POGLUT1:
Animal Model Products
-
Taconic Biosciences Mouse Models for POGLUT1
CRISPR Products
-
OriGene CRISPR knockouts for POGLUT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POGLUT1
- genomics-online: gRNA clones - Search for available POGLUT1 gRNA products
- Overview of 114 available POGLUT1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for POGLUT1 - Select products 50% OFF >
- * POGLUT1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * POGLUT1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for POGLUT1
miRNA for POGLUT1 Gene
- miRTarBase miRNAs that target POGLUT1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for POGLUT1
- Browse OriGene Inhibitory RNA Products For POGLUT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POGLUT1
- genomics-online: shRNA clones - Search for available POGLUT1 shRNA products
- Overview of 114 available POGLUT1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for POGLUT1
- Addgene plasmids for POGLUT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POGLUT1
- Applied Biological Materials (abm): Clones for POGLUT1 - Select products 50% OFF >
- * POGLUT1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * POGLUT1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for 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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 1 |
| extracellular | 1 |
| golgi apparatus | 1 |
| mitochondrion | 0 |
| lysosome | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005788 | endoplasmic reticulum lumen | IDA,IBA | 16524674 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for POGLUT1 Gene
Pathways & Interactions for POGLUT1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Pre-NOTCH Expression and Processing | ||
| 2 | Other types of O-glycan biosynthesis | ||
| 3 | Signaling by GPCR | ||
| 4 | Signaling by NOTCH1 | ||
Pathways by source for POGLUT1 Gene
4 Reactome pathways for POGLUT1 Gene
1 KEGG pathway for POGLUT1 Gene
UniProtKB/Swiss-Prot Q8NBL1-PGLT1_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for POGLUT1 Gene
GPS-Prot Interaction Network for POGLUT1
| 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 | -- |
Transcripts for POGLUT1 Gene
mRNA/cDNA for POGLUT1 Gene
- (1) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (129) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000295588 3508 bps (ENST00000295588.8)
- ENST00000390401 731 bps (ENST00000390401.2)
- ENST00000460339 589 bps (ENST00000460339.1)
- ENST00000473648 3598 bps (ENST00000473648.1)
- ENST00000476573 567 bps (ENST00000476573.5)
CRISPR Products
-
OriGene CRISPR knockouts for POGLUT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POGLUT1
- genomics-online: gRNA clones - Search for available POGLUT1 gRNA products
- Overview of 114 available POGLUT1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for POGLUT1 - Select products 50% OFF >
- * POGLUT1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * POGLUT1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for POGLUT1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for POGLUT1
- Browse OriGene Inhibitory RNA Products For POGLUT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POGLUT1
- genomics-online: shRNA clones - Search for available POGLUT1 shRNA products
- Overview of 114 available POGLUT1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for POGLUT1
- Addgene plasmids for POGLUT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POGLUT1
- Applied Biological Materials (abm): Clones for POGLUT1 - Select products 50% OFF >
- * POGLUT1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * POGLUT1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| 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: |
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of POGLUT1 Gene:
POGLUT1SOURCE GeneReport for Unigene cluster for POGLUT1 Gene:
Hs.231750mRNA 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
Primer Products
-
OriGene qPCR primer pairs for POGLUT1
-
OriGene qPCR primer pairs and template standards for POGLUT1
- genomics-online: primer clones - Search for available POGLUT1 Primer products
- Overview of 114 available POGLUT1 gene related products
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | POGLUT1 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | POGLUT1 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | POGLUT1 33 32 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Poglut1 32 |
|
||
| mouse (Mus musculus) |
Mammalia | Poglut1 17 33 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | POGLUT1 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | POGLUT1 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | POGLUT1 33 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7118 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | poglut1 33 32 |
|
OneToOne | |
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6926 32 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | rumi 33 32 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | CAP10_ANOGA 32 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT5G23850 32 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os02g0642700 32 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.923 33 |
|
OneToOne | |
| Cin.3830 32 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.3830 32 |
|
- 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
Variants for POGLUT1 Gene
| SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1454300079 | Dowling-Degos disease 4 (DDD4) [MIM:615696] | 119,480,103(+) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs550944082 | pathogenic, Muscular dystrophy, limb-girdle, type 2z, Muscular dystrophy, limb-girdle, autosomal recessive 21 (LGMDR21) [MIM:617232] | 119,486,893(+) | T/C/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant | |
| rs587777293 | pathogenic, Dowling-degos disease 4 | 119,469,032(+) | G/A/T | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, stop_gained, upstream_transcript_variant | |
| rs587777294 | pathogenic, Dowling-degos disease 4 | 119,486,846(+) | C/T | coding_sequence_variant, non_coding_transcript_variant, stop_gained | |
| rs587777295 | pathogenic, Dowling-degos disease 4 | 119,490,549(+) | A/C | splice_acceptor_variant |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POGLUT1 Gene
Disorders for POGLUT1 Gene
(5) MalaCards diseases for POGLUT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| muscular dystrophy, limb-girdle, autosomal recessive 21 |
|
|
| dowling-degos disease 4 |
|
|
| dowling-degos disease |
|
|
| pigmentation disease |
|
|
| muscular dystrophy |
|
|
Search POGLUT1 in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for POGLUT1 Gene
Publications for POGLUT1 Gene
- 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 56
- Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. (PMID: 27479915) Wilson NJ … Smith FJ (The British journal of dermatology 2017) 3 4 56
- 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 56
- 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 56
- 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 56
ExternalLinks
Products for POGLUT1 Gene
- View all 4 R&D Systems POGLUT1 (Protein O-Glucosyltransferase 1/POGLUT1) Products
- View all R&D Systems POGLUT1 (Protein O-Glucosyltransferase 1/POGLUT1) Proteins and Enzymes
- View all 3 R&D Systems POGLUT1 (Protein O-Glucosyltransferase 1/POGLUT1) Primary Antibodies
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- Custom Antibody ServicesOriGene Antibodies for POGLUT1
- Browse OriGene ELISA Kits
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- Origene Custom Protein Services for POGLUT1
- Origene sirna, shrna, and RNAi products in human, mouse, rat for POGLUT1
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- OriGene qPCR primer pairs for POGLUT1
- OriGene qPCR primer pairs and template standards for POGLUT1
- OriGene CRISPR knockouts for POGLUT1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For POGLUT1
- Sino Biological Human cDNA Clone for POGLUT1
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- Novus Biologicals Antibodies for POGLUT1
- Novus Biologicals proteins and lysates for POGLUT1
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- ProSpec Recombinant Proteins for POGLUT1
- Taconic Biosciences Mouse Models for POGLUT1
- Find your next knockout model in the Taconic Knockout Repository
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- Invitrogen Antibodies for POGLUT1 (AFLGC-POGLUT1)
- Addgene plasmids for POGLUT1
- antibodies-online: Show 11 available POGLUT1 Antibodies ranked by validation data
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- antibodies-online: Show 3 available POGLUT1 Elisa Kits ranked by validation data
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- antibodies-online: Show 6 available POGLUT1 Proteins ranked by validation data
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- Horizon Cell Lines for POGLUT1
- genomics-online: cdna clones - Search for available POGLUT1 CDNA products
- Overview of 114 available POGLUT1 gene related products
- orf clones - Search for available POGLUT1 ORF products
- Overview of 114 available POGLUT1 gene related products
- genomics-online: gRNA clones - Search for available POGLUT1 gRNA products
- Overview of 114 available POGLUT1 gene related products
- genomics-online: primer clones - Search for available POGLUT1 Primer products
- Overview of 114 available POGLUT1 gene related products
- genomics-online: shRNA clones - Search for available POGLUT1 shRNA products
- Overview of 114 available POGLUT1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POGLUT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POGLUT1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for POGLUT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POGLUT1
- Biorbyt antibodies for POGLUT1
Sources for POGLUT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (11) Cell Signaling Technology
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- (15) ProtoNet
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- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
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- (112) Disease Ontology
- (113) Genetics Home Reference
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- (115) MedlinePlus
- (116) CDC
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- (118) NCBI Bookshelf
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- (125) ENCODE
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- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
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- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource