GENE REFERENCE / HGNC:22954

POGLUT1

protein O-glucosyltransferase 1

protein-coding gene3q13.33Gene information

What does this gene do?

The POGLUT1 gene provides instructions for making a protein called protein O-glucosyltransferase 1. This protein is located in a cell structure called the endoplasmic reticulum, which helps with protein processing and transport. Protein O-glucosyltransferase 1 adds sugar molecules, specifically a sugar called glucose, to other proteins called Notch receptors. Notch receptors are a family of proteins that are involved in a signaling pathway that guides normal development of many tissues throughout the body, both before birth and throughout life. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Attachment of a ligand into a Notch receptor triggers signaling in the Notch pathway.

The addition of glucose molecules alters the shape of the Notch receptor. The receptor is then able to attach (bind) to its ligand and trigger signaling. Through its integral role in Notch receptor function, protein O-glucosyltransferase 1 allows the Notch pathway to proceed. The Notch pathway regulates a variety of processes including the specialization of cells into certain cell types that perform particular functions in the body (cell fate determination). It also plays a role in cell growth and division (proliferation), maturation (differentiation), and self-destruction (apoptosis).

In skin cells, Notch signaling likely plays a role in the maintenance of precursor cells that mature into pigment-producing skin cells called melanocytes and may regulate interactions between melanocytes and other skin cells called keratinocytes. Protein O-glucosyltransferase 1 is found in high levels in skin cells, particularly in the outermost layer of skin (epidermis) where melanocytes are abundant, and may have additional functions in the skin besides its involvement in Notch signaling.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2017-08.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
autosomal recessive limb-girdle muscular dystrophyMONDO:0015152 · Evaluated 2024-08-14	Autosomal recessive	DefinitiveMuscular Dystrophies and Myopathies Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 366
Submissions for variants in or overlapping this gene: 513
Submissions explicitly reporting this gene: 488
Alleles reported pathogenic / likely pathogenic: 25
VariationIDs with uncertain significance: 160
VariationIDs with conflicting classifications: 9

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about POGLUT1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 25 alleles in POGLUT1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in POGLUT1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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