POGLUT1

Chr 3q13.33

protein O-glucosyltransferase 1

Aliases:: MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46
MANE:: ENST00000295588.9

OMIM: 615618 ↗NCBI: 56983 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

POGLUT1 · Q8NBL1

v62025-08-01

Predicted Aligned Error matrix for POGLUT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.1/ 100

Very high

392 residues

Confidence breakdown

Very high(≥ 90)90%
Confident(70–90)1%
Low(50–70)1%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability

Disease associations (Open Targets)

Dowling-Degos disease
0.71
Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
0.70
neurodegenerative disease
0.52
autosomal recessive limb-girdle muscular dystrophy
0.37
hereditary disease
0.19
retinitis pigmentosa
0.11
Progressive cone dystrophy
0.09
Cone rod dystrophy
0.08
Oguchi disease
0.07
Leber congenital amaurosis
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein O-glucosyltransferase 1

Dual specificity glycosyltransferase that catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to a serine residue found in the consensus sequence of C-X-S-X-P-C (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322). Specifically targets extracellular EGF repeats of protein such as CRB2, F7, F9 and NOTCH2 (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322). Acts as a positive regulator of Notch signaling by mediating O-glucosylation of Notch, leading to regulate muscle development (PubMed:27807076). Notch glucosylation does not affect Notch ligand binding (PubMed:21490058). Required during early development to promote gastrulation: acts by mediating O-glucosylation of CRB2, which is required for CRB2 localization to the cell membrane (By similarity)