Human Gene POGLUT1 (ENST00000295588.9_4) from GENCODE V47lift37
  Description: protein O-glucosyltransferase 1, transcript variant 2 (from RefSeq NR_024265.2)
Gencode Transcript: ENST00000295588.9_4
Gencode Gene: ENSG00000163389.12_10
Transcript (Including UTRs)
   Position: hg19 chr3:119,187,810-119,213,555 Size: 25,746 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr3:119,187,869-119,211,285 Size: 23,417 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:119,187,810-119,213,555)mRNA (may differ from genome)Protein (392 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PGLT1_HUMAN
DESCRIPTION: RecName: Full=Protein O-glucosyltransferase 1; EC=2.4.1.-; AltName: Full=CAP10-like 46 kDa protein; Short=hCLP46; AltName: Full=KTEL motif-containing protein 1; AltName: Full=Myelodysplastic syndromes relative protein; Flags: Precursor;
FUNCTION: UDP-glucosyltransferase.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=72 uM for UDP-Glc; Vmax=7.6 pmol/min/ug enzyme;
PATHWAY: Protein modification; protein glycosylation.
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen.
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.
MISCELLANEOUS: Possess the ability of promoting cell proliferation (PubMed:16524674).
SIMILARITY: Belongs to the glycosyltransferase 90 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: POGLUT1
Diseases sorted by gene-association score: dowling-degos disease 4* (1341), muscular dystrophy, limb-girdle, type 2z* (1250), dowling-degos disease* (290), pigmentation disease (5), muscular dystrophy (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.86 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 212.56 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.8059-0.403 Picture PostScript Text
3' UTR -552.402270-0.243 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006598 - LipoPS_modifying

Pfam Domains:
PF05686 - Glycosyl transferase family 90

ModBase Predicted Comparative 3D Structure on Q8NBL1
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0030158 protein xylosyltransferase activity
GO:0035251 UDP-glucosyltransferase activity
GO:0035252 UDP-xylosyltransferase activity
GO:0046527 glucosyltransferase activity

Biological Process:
GO:0001756 somitogenesis
GO:0006486 protein glycosylation
GO:0006493 protein O-linked glycosylation
GO:0006664 glycolipid metabolic process
GO:0007275 multicellular organism development
GO:0007369 gastrulation
GO:0008593 regulation of Notch signaling pathway
GO:0010470 regulation of gastrulation
GO:0018242 protein O-linked glycosylation via serine
GO:0045747 positive regulation of Notch signaling pathway
GO:0048318 axial mesoderm development
GO:0048339 paraxial mesoderm development
GO:0060537 muscle tissue development
GO:0072358 cardiovascular system development

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen


-  Descriptions from all associated GenBank mRNAs
  BC030614 - Homo sapiens KTEL (Lys-Tyr-Glu-Leu) containing 1, mRNA (cDNA clone MGC:32995 IMAGE:4796951), complete cds.
AY298903 - Homo sapiens myelodysplastic syndromes relative (MDSRP) mRNA, complete cds.
AK301002 - Homo sapiens cDNA FLJ53000 complete cds, highly similar to CAP10-like 46 kDa protein precursor.
AK315367 - Homo sapiens cDNA, FLJ96413, highly similar to Homo sapiens x 010 protein (MDS010), mRNA.
AK295984 - Homo sapiens cDNA FLJ53005 complete cds, highly similar to CAP10-like 46 kDa protein precursor.
AK222937 - Homo sapiens mRNA for x 010 protein variant, clone: HRC09873.
AF168711 - Homo sapiens x 010 protein mRNA, complete cds.
BC048810 - Homo sapiens KTEL (Lys-Tyr-Glu-Leu) containing 1, mRNA (cDNA clone MGC:54155 IMAGE:5243487), complete cds.
AY358581 - Homo sapiens clone DNA57699 MDS010 (UNQ490) mRNA, complete cds.
AK075444 - Homo sapiens cDNA PSEC0136 fis, clone PLACE1004904, highly similar to X 010 protein.
CU690580 - Synthetic construct Homo sapiens gateway clone IMAGE:100021358 5' read KTELC1 mRNA.
CU688946 - Synthetic construct Homo sapiens gateway clone IMAGE:100018200 5' read KTELC1 mRNA.
KJ906262 - Synthetic construct Homo sapiens clone ccsbBroadEn_15932 POGLUT1 gene, encodes complete protein.
HQ447221 - Synthetic construct Homo sapiens clone IMAGE:100070522; CCSB001674_01 KTEL (Lys-Tyr-Glu-Leu) containing 1 (KTELC1) gene, encodes complete protein.
KJ899285 - Synthetic construct Homo sapiens clone ccsbBroadEn_08679 POGLUT1 gene, encodes complete protein.
JD021059 - Sequence 2083 from Patent EP1572962.
JD030403 - Sequence 11427 from Patent EP1572962.
AK126736 - Homo sapiens cDNA FLJ44782 fis, clone BRACE3037612.
AK027012 - Homo sapiens cDNA: FLJ23359 fis, clone HEP15091.
LF210613 - JP 2014500723-A/18116: Polycomb-Associated Non-Coding RNAs.
LF339298 - JP 2014500723-A/146801: Polycomb-Associated Non-Coding RNAs.
JD349478 - Sequence 330502 from Patent EP1572962.
JD432226 - Sequence 413250 from Patent EP1572962.
LF339297 - JP 2014500723-A/146800: Polycomb-Associated Non-Coding RNAs.
JD284564 - Sequence 265588 from Patent EP1572962.
JD230593 - Sequence 211617 from Patent EP1572962.
JD267928 - Sequence 248952 from Patent EP1572962.
JD511947 - Sequence 492971 from Patent EP1572962.
JD061307 - Sequence 42331 from Patent EP1572962.
JD206011 - Sequence 187035 from Patent EP1572962.
LF339296 - JP 2014500723-A/146799: Polycomb-Associated Non-Coding RNAs.
MA446190 - JP 2018138019-A/18116: Polycomb-Associated Non-Coding RNAs.
MA574875 - JP 2018138019-A/146801: Polycomb-Associated Non-Coding RNAs.
MA574874 - JP 2018138019-A/146800: Polycomb-Associated Non-Coding RNAs.
MA574873 - JP 2018138019-A/146799: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8NBL1 (Reactome details) participates in the following event(s):

R-HSA-1912353 Glucosylation of Pre-NOTCH by POGLUT1
R-HSA-1912399 Pre-NOTCH Processing in the Endoplasmic Reticulum
R-HSA-1912422 Pre-NOTCH Expression and Processing
R-HSA-157118 Signaling by NOTCH
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B2RD13, C3orf9 , CLP46 , ENST00000295588.1, ENST00000295588.2, ENST00000295588.3, ENST00000295588.4, ENST00000295588.5, ENST00000295588.6, ENST00000295588.7, ENST00000295588.8, KTELC1, MDS010, MDSRP, NR_024265, PGLT1_HUMAN, POGLUT1 , Q53GJ4, Q8N2T1, Q8NBL1, uc317lmk.1, uc317lmk.2, UNQ490/PRO1006
UCSC ID: ENST00000295588.9_4
RefSeq Accession: NM_152305.3
Protein: Q8NBL1 (aka PGLT1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.