POGLUT1 protein O-glucosyltransferase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: POGLUT1provided by HGNC
Official Full Name: protein O-glucosyltransferase 1provided by HGNC
Primary source: HGNC:HGNC:22954
See related: Ensembl:ENSG00000163389 MIM:615618; AllianceGenome:HGNC:22954
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Rumi; CLP46; MDSRP; C3orf9; KTELC1; LGMD2Z; MDS010; hCLP46; KDELCL1; LGMDR21
Summary: 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]
Expression: Ubiquitous expression in lymph node (RPKM 6.1), appendix (RPKM 5.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q13.33

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (119468963..119494708)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (122188674..122214425)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (119187810..119213555)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, alpha-dystroglycan hypoglycosylation and a distinctive radiological pattern.
Title: POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
This is the first study to demonstrate that POGLUT1 and not CD80 is the effector gene regulated by the primary functional SNP rs2293370, and that increased expression of POGLUT1 might be involved in the pathogenesis of Primary biliary cholangitis.
Title: POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33.
RUMI is a novel negative prognostic factor with significant therapeutic potential in non-small-cell lung cancer.
Title: RUMI is a novel negative prognostic marker and therapeutic target in non-small-cell lung cancer.
To conclude, we report a new heterozygous nonsense mutation in POGLUT1 predicted to result in a loss of function in two siblings with DD disease.
Title: A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease.
Case Report: Japanese female with Galli-Galli Disease due to novel POGLUT1 mutation.
Title: A Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation.
Here we report the generation and characterization of an iPSC line (CSCRMi001-A) from a LGMD-2Z patient with missense mutation in POGLUT1 which can be used for in vitro disease modeling.
Title: Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi).
The data suggest that hCLP46(human CAP10-like protein 46 kDa) overexpression in colorectal cancer is associated with higher tumor-node-metastasis stage, lymph node metastasis, and shorter survival time.
Title: Human CAP10-Like Protein 46 kDa Gene Promotes Malignancy in Colorectal Cancer.
These findings expand the spectrum of mutations in POGLUT1 and confirm POGLUT1 as the third candidate gene, along with KRT5 and POFUT1, to consider in diagnosis of GGD/DDD.
Title: Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.
These data suggest that a key pathomechanism for this novel form of muscular dystrophy with POGLUT1 mutation is Notch-dependent loss of satellite cells.
Title: A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.
hCLP46 increases Smad3 protein stability via inhibiting its ubiquitin-proteasomal degradation
Title: hCLP46 increases Smad3 protein stability via inhibiting its ubiquitin-proteasomal degradation.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive limb-girdle muscular dystrophy type 2R1 MedGen: C4310660 OMIM: 617232 GeneReviews: Not available	Compare labs
Dowling-Degos disease 4 MedGen: C3810313 OMIM: 615696 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Multiple common variants for celiac disease influencing immune gene expression. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S3946 (e-PCR)
- UniSTS:63266

G60021 (e-PCR)
- UniSTS:137287

RH44249 (e-PCR)
- UniSTS:40829

RH48743 (e-PCR)
- UniSTS:84136

D3S3513 (e-PCR)
- UniSTS:21164

Gene Ontology Provided by GOA

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	IMP Inferred from Mutant Phenotype more info	PubMed
enables UDP-xylosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables UDP-xylosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables glucosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed

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

Component	Evidence Code	Pubs
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum lumen	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein O-glucosyltransferase 1

Names: 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-xylosyltransferase POGLUT1; x 010 protein

NP_689518.1

EC 2.4.1.376

EC 2.4.2.63

XP_006713768.1

EC 2.4.1.376

EC 2.4.2.63

XP_047304550.1

EC 2.4.1.376

EC 2.4.2.63

XP_047304551.1

EC 2.4.1.376

EC 2.4.2.63

XP_054203251.1

EC 2.4.1.376

EC 2.4.2.63

XP_054203252.1

EC 2.4.1.376

EC 2.4.2.63

XP_054203253.1

EC 2.4.1.376

EC 2.4.2.63

XP_054203254.1

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.

Genomic

NG_034115.1 RefSeqGene

Range

5026..30771

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_152305.3 → NP_689518.1 protein O-glucosyltransferase 1 precursor

See identical proteins and their annotated locations for NP_689518.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript and is protein coding.

Source sequence(s)

AY298903

Consensus CDS

CCDS2988.1

UniProtKB/Swiss-Prot

B2RD13, Q53GJ4, Q8N2T1, Q8NBL1

Related

ENSP00000295588.4, ENST00000295588.9

Conserved Domains (1) summary

pfam05686
Location:49 → 388

Glyco_transf_90; Glycosyl transferase family 90

RNA

NR_024265.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because it is a nonsense-mediated mRNA decay (NMD) candidate when the 5'-most translation start codon is used, as in variant 1.

Source sequence(s)

AK295984, AY298903, CD517010

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

119468963..119494708

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047448595.1 → XP_047304551.1 protein O-glucosyltransferase 1 isoform X1

UniProtKB/TrEMBL

B4DJ97
XM_006713705.4 → XP_006713768.1 protein O-glucosyltransferase 1 isoform X1

See identical proteins and their annotated locations for XP_006713768.1

UniProtKB/TrEMBL

B4DJ97

Conserved Domains (1) summary

cl23835
Location:1 → 229

Glyco_transf_90; Glycosyl transferase family 90
XM_047448594.1 → XP_047304550.1 protein O-glucosyltransferase 1 isoform X1

UniProtKB/TrEMBL

B4DJ97

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

122188674..122214425

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054347277.1 → XP_054203252.1 protein O-glucosyltransferase 1 isoform X1

UniProtKB/TrEMBL

B4DJ97
XM_054347278.1 → XP_054203253.1 protein O-glucosyltransferase 1 isoform X1

UniProtKB/TrEMBL

B4DJ97
XM_054347279.1 → XP_054203254.1 protein O-glucosyltransferase 1 isoform X1

UniProtKB/TrEMBL

B4DJ97
XM_054347276.1 → XP_054203251.1 protein O-glucosyltransferase 1 isoform X1

UniProtKB/TrEMBL

B4DJ97