• Gene id: 56983

Gene Summary

• Gene Symbol: POGLUT1   Gene   UCSC   Ensembl
• Aliases: C3orf9, CLP46, KDELCL1, KTELC1, LGMD2Z, LGMDR21, MDS010, MDSRP, Rumi, hCLP46
• Gene name: protein O-glucosyltransferase 1
• Alternate names: protein O-glucosyltransferase 1, 9630046K23Rik, CAP10-like 46 kDa protein, KDELC family like 1, KTEL (Lys-Tyr-Glu-Leu) containing 1, KTEL motif-containing protein 1, O-glucosyltransferase Rumi homolog, hRumi, myelodysplastic syndromes relative protein, protein O-x,
• Gene location: 3q13.33 (119468954: 119494707)     Exons: 13     NC_000003.12
• Gene summary(Entrez): 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 reticu
• OMIM: 608604

Protein Summary

• Protein general information: Q8NBL1  
  • Name: Protein O glucosyltransferase 1 (EC 2.4.1. ) (CAP10 like 46 kDa protein) (hCLP46) (KTEL motif containing protein 1) (Myelodysplastic syndromes relative protein) (O glucosyltransferase Rumi homolog) (hRumi) (Protein O xylosyltransferase POGLUT1) (EC 2.4.2.
  • Length: 392  
  • Mass: 46189
  • 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 an
• Sequence:

  MEWWASSPLRLWLLLFLLPSAQGRQKESGSKWKVFIDQINRSLENYEPCSSQNCSCYHGVIEEDLTPFRGGISRK
  MMAEVVRRKLGTHYQITKNRLYRENDCMFPSRCSGVEHFILEVIGRLPDMEMVINVRDYPQVPKWMEPAIPVFSF
  SKTSEYHDIMYPAWTFWEGGPAVWPIYPTGLGRWDLFREDLVRSAAQWPWKKKNSTAYFRGSRTSPERDPLILLS
  RKNPKLVDAEYTKNQAWKSMKDTLGKPAAKDVHLVDHCKYKYLFNFRGVAASFRFKHLFLCGSLVFHVGDEWLEF
  FYPQLKPWVHYIPVKTDLSNVQELLQFVKANDDVAQEIAERGSQFIRNHLQMDDITCYWENLLSEYSKFLSYNVT
  RRKGYDQIIPKMLKTEL

• Structural information:
  • Interpro: IPR006598  
  • PDB: 5L0R 5L0S 5L0T 5L0U 5L0V 5UB5
  • PDBsum: 5L0R 5L0S 5L0T 5L0U 5L0V 5UB5
  • STRING: ENSP00000295588
• Other Databases: GeneCards:  POGLUT1  Malacards:  POGLUT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0012505	endomembrane system	IBA	cellular component
GO:0045747	positive regulation of Notch signaling pathway	IBA	biological process
GO:0046527	glucosyltransferase activity	IBA	molecular function
GO:0006493	protein O-linked glycosylation	IBA	biological process
GO:0035251	UDP-glucosyltransferase activity	IBA	molecular function
GO:0035252	UDP-xylosyltransferase activity	IBA	molecular function
GO:0005788	endoplasmic reticulum lumen	IDA	cellular component
GO:0005788	endoplasmic reticulum lumen	IDA	cellular component
GO:0035251	UDP-glucosyltransferase activity	IDA	molecular function
GO:0035251	UDP-glucosyltransferase activity	IDA	molecular function
GO:0018242	protein O-linked glycosylation via serine	IDA	biological process
GO:0060537	muscle tissue development	IMP	biological process
GO:0045747	positive regulation of Notch signaling pathway	IMP	biological process
GO:0010470	regulation of gastrulation	ISS	biological process
GO:0018242	protein O-linked glycosylation via serine	IMP	biological process
GO:0035252	UDP-xylosyltransferase activity	IMP	molecular function
GO:0035251	UDP-glucosyltransferase activity	IMP	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0007369	gastrulation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0046527	glucosyltransferase activity	IDA	molecular function
GO:0006493	protein O-linked glycosylation	IDA	biological process
GO:0048318	axial mesoderm development	IEA	biological process
GO:0046527	glucosyltransferase activity	IEA	molecular function
GO:0045747	positive regulation of Notch signaling pathway	IEA	biological process
GO:0072358	cardiovascular system development	IEA	biological process
GO:0048339	paraxial mesoderm development	IEA	biological process
GO:0035252	UDP-xylosyltransferase activity	IEA	molecular function
GO:0035251	UDP-glucosyltransferase activity	IEA	molecular function
GO:0018242	protein O-linked glycosylation via serine	IEA	biological process
GO:0010470	regulation of gastrulation	IEA	biological process
GO:0008593	regulation of Notch signaling pathway	IEA	biological process
GO:0006493	protein O-linked glycosylation	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa00514	Other types of O-glycan biosynthesis

Diseases

Associated diseases	References
Limb-girdle muscular dystrophy	KEGG:H00593
Limb-girdle muscular dystrophy	KEGG:H00593
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881