Poglut1 protein O-glucosyltransferase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Poglut1provided by MGI
Official Full Name: protein O-glucosyltransferase 1provided by MGI
Primary source: MGI:MGI:2444232
See related: Ensembl:ENSMUSG00000034064 AllianceGenome:MGI:2444232
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Rumi; wsnp; Clp46; Ktelc1; 9630046K23Rik
Summary: This gene encodes a protein that can catalyze transfer of either UDP-glucose or UDP-xylose to epidermal growth factor (EGF) repeats, such as those found in Notch. Loss of this gene product results in embryonic lethality. Embryos have neural plate defects, heart defects, and truncations of their posterior axis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Expression: Ubiquitous expression in limb E14.5 (RPKM 15.8), CNS E11.5 (RPKM 15.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 B4; 16 26.86 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (38345420..38370619, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (38525058..38550257, complement)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ASO silencing of a glycosyltransferase, Poglut1 , improves the liver phenotypes in mouse models of Alagille syndrome.
Title: ASO silencing of a glycosyltransferase, Poglut1 , improves the liver phenotypes in mouse models of Alagille syndrome.
Removing one copy of Rumi suppresses the Jag1(+/-) bile duct phenotype, indicating that Rumi opposes JAG1 function in the liver
Title: Jagged1 heterozygosity in mice results in a congenital cholangiopathy which is reversed by concomitant deletion of one copy of Poglut1 (Rumi).
The data demonstrate that CRUMBS2 is the target of POGLUT1 for the gastrulation epithelial-to-mesenchymal transitions (EMT) and that all activity of CRUMBS2 depends on modification by POGLUT1
Title: Protein O-Glucosyltransferase 1 (POGLUT1) Promotes Mouse Gastrulation through Modification of the Apical Polarity Protein CRUMBS2.
Rumi(-/-) embryos die before embryonic day 9.5 with posterior axis truncation and severe defects in neural tube development, somitogenesis, cardiogenesis and vascular remodeling.
Title: Regulation of mammalian Notch signaling and embryonic development by the protein O-glucosyltransferase Rumi.

Submit: New GeneRIF Correction

Phenotypes

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Associated conditions

Description	Tests
wing-shaped neural plate GeneReviews: Not available
wsnp GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (1)
Gene trapped (2)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BE632158 (e-PCR)
- UniSTS:209218

RH143536 (e-PCR)
- UniSTS:232782

Poglut1 (e-PCR), detects polymorphism
- UniSTS:547993

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables EGF-domain serine glucosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables EGF-domain serine xylosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables UDP-glucosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables UDP-glucosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables UDP-glucosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables UDP-glucosyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables UDP-glucosyltransferase activity	TAS Traceable Author Statement more info
enables UDP-xylosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables UDP-xylosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables UDP-xylosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables UDP-xylosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables glucosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables glucosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within axial mesoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within circulatory system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gastrulation	IEA Inferred from Electronic Annotation more info
involved_in muscle tissue development	ISO Inferred from Sequence Orthology more info
involved_in muscle tissue development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within paraxial mesoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Notch signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in protein O-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein O-linked glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein O-linked glycosylation	ISO Inferred from Sequence Orthology more info
involved_in protein O-linked glycosylation via serine	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein O-linked glycosylation via serine	ISO Inferred from Sequence Orthology more info
involved_in protein O-linked glycosylation via serine	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within somitogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum lumen	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum lumen	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: protein O-glucosyltransferase 1

Names: CAP10-like 46 kDa protein; KTEL (Lys-Tyr-Glu-Leu) containing 1; KTEL motif-containing protein 1; O-glucosyltransferase Rumi homolog; protein O-xylosyltransferase POGLUT1; wing-shaped neural plate protein

NP_001287756.1

EC 2.4.1.376

EC 2.4.2.63

NP_759012.1

EC 2.4.1.376

EC 2.4.2.63

XP_030104949.1

EC 2.4.1.376

EC 2.4.2.63

XP_030104950.1

EC 2.4.1.376

EC 2.4.2.63

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001300827.1 → NP_001287756.1 protein O-glucosyltransferase 1 isoform 2

See identical proteins and their annotated locations for NP_001287756.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate splice site in the 5' UTR, resulting in the use of a downstream translation start site, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC209577, AK045278

UniProtKB/TrEMBL

Q8BLG5

Related

ENSMUST00000153187.8

Conserved Domains (1) summary

cl23835
Location:2 → 313

Glyco_transf_90; Glycosyl transferase family 90
NM_172380.4 → NP_759012.1 protein O-glucosyltransferase 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_759012.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).

Source sequence(s)

AC209577, AK036224, AK079886, CB249259

Consensus CDS

CCDS28170.1

UniProtKB/Swiss-Prot

Q8BYB9, Q8R0H7

Related

ENSMUSP00000038166.7, ENSMUST00000036210.7

Conserved Domains (1) summary

pfam05686
Location:49 → 388

Glyco_transf_90; Glycosyl transferase family 90

RNA

NR_153380.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC209577

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000082.7 Reference GRCm39 C57BL/6J

Range

38345420..38370619 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030249090.2 → XP_030104950.1 protein O-glucosyltransferase 1 isoform X2

Conserved Domains (1) summary

cl23835
Location:58 → 212

Glyco_transf_90; Glycosyl transferase family 90
XM_030249089.2 → XP_030104949.1 protein O-glucosyltransferase 1 isoform X1

Conserved Domains (1) summary

cl23835
Location:95 → 236

Glyco_transf_90; Glycosyl transferase family 90