POGLUT1 - protein O-glucosyltransferase 1 Gene

Also Known as Rumi; CLP46; MDSRP; C3orf9; KTELC1; LGMD2Z; MDS010; hCLP46; KDELCL1; LGMDR21

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56983

About POGLUT1

Cytogenetic location: 3q13.33 Genomic coordinates (GRCh38): 3:119,468,963-119,494,708 (from NCBI)

This gene has 9 transcripts (splice variants), 200 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in lymph node (RPKM 6.1), appendix (RPKM 5.7) and 25 other tissues.

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]

POGLUT1 Products (1)

mRNA	Protein	Name
NM_152305.3	NP_689518.1	protein O-glucosyltransferase 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables UDP-glucosyltransferase activity	IDA IDA: Inferred from direct assay	21081508	GOA
enables UDP-glucosyltransferase activity	IMP IMP: Inferred from mutant phenotype	27807076	GOA
enables UDP-xylosyltransferase activity	IMP IMP: Inferred from mutant phenotype	27807076	GOA
enables glucosyltransferase activity	IDA IDA: Inferred from direct assay	21949356	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in muscle tissue development	IMP IMP: Inferred from mutant phenotype	27807076	GOA
involved in positive regulation of Notch signaling pathway	IMP IMP: Inferred from mutant phenotype	27807076	GOA
acts upstream of or within protein O-linked glycosylation	IDA IDA: Inferred from direct assay	21949356	GOA
involved in protein O-linked glycosylation via serine	IDA IDA: Inferred from direct assay	30127001	GOA
involved in protein O-linked glycosylation via serine	IMP IMP: Inferred from mutant phenotype	27807076	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum lumen	IDA IDA: Inferred from direct assay	16524674	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POGLUT1 Protein Structure

Glyco_transf_90

0
100
200
300
392 a.a.

Protein Preferred Names	Protein Names
protein O-glucosyltransferase 1	9630046K23Rik

Related Diseases

Diseases	Alias
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21	Muscular Dystrophy, Limb-Girdle, Type 2z Lgmd2z LGMDR21 Poglut1-Related Limb-Girdle Muscular Dystrophy R21 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z Lgmd Type 2z Limb-Girdle Muscular Dystrophy Type 2z Poglut1-Related Lgmd R21 Limb-Girdle Muscular Dystrophy 2z
Dowling-Degos Disease 4	DDD4 Disease, Dowling-Degos, Type 4
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z	Limb-Girdle Muscular Dystrophy 21
Dowling-Degos Disease	Reticular Pigment Anomaly Of Flexures Dark Dot Disease Reticulate Acropigmentation Of Kitamura Dowling-Degos Kitamura Disease Kitamura Reticulate Acropigmentation Ddd Dowling-Degos-Kitamura Disease Reticular Pigmented Anomaly Of Flexures
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w	Lgmd2w Muscular Dystrophy, Limb-Girdle, Type 2w
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
Spondylocostal Dysostosis 3, Autosomal Recessive	SCDO3 Spondylocostal Dysostosis, Autosomal Recessive 3 Spondylocostal Dysostosis 3 Autosomal Recessive Spondylocostal Dysostosis 3 Doid:0112361 Dysostosis, Spondylocostal, Autosomal Recessive, Type 3 Jarcho-Levin Syndrome
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x	Lgmd2x Muscular Dystrophy, Limb-Girdle, Type 2x
Dependent Personality Disorder
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset	EMARDD Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset, Mild Variant Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome Early-Onset Myopathy, Areflexia, Respiratory Distress And Dysphagia Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia
Reticulate Acropigmentation Of Kitamura	RAK Acropigmentatio Reticularis Reticulate Pigmentation Of Kitamura Rpk Kitamura Reticulate Acropigmentation Rapk
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A6 Mddga6 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Large-Related Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A6
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Lgmd2b Muscular Dystrophy, Limb-Girdle, Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Beta-Sarcoglycanopathy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y Muscular Dystrophy, Limb-Girdle, Type 3 Lgmd3 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s LGMDR2 Muscular Dystrophy, Limb-Girdle, Type 2s Limb-Girdle Muscular Dystrophy Type 2b Lgmd2e Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency Muscular Dystrophy, Limb-Girdle, Type 2e Lgmd2s Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency Lgmd2y Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine Muscular Dystrophy, Limb-Girdle, Type 2y Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Dysferlin-Related Lgmd R2 Lgmd Due To Dysferlin Deficiency Lgmd Type 2b Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency Limb-Girdle Muscular Dystrophy 2b Limb-Girdle Muscular Dystrophy, Type 2b Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2 Dystrophy, Muscular, Limb-Girdle, Type 2b Limb-Girdle Muscular Dystrophy, Type 2e
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Pigmentation Disease	Pigmentation Disorders Skin Pigmentation Disorder
Adams-Oliver Syndrome	Adams Oliver Syndrome Aos Congenital Scalp Defects With Distal Limb Reduction Anomalies Aplasia Cutis Congenita With Terminal Transverse Limb Defects Congenital Scalp Defects With Distal Limb Anomalies Limb, Scalp And Skull Defects Limb Scalp And Skull Defects Absence Defect Of Limbs, Scalp, And Skull
Anal Canal Squamous Cell Carcinoma	Squamous Cell Carcinoma Of The Anal Canal
Myopathy	Muscular Diseases Myopathies
Spondylocostal Dysostosis	Jarcho-Levin Syndrome Costovertebral Dysplasia Spondylothoracic Dysostosis Spondylothoracic Dysplasia Scdo Dysostosis, Spondylocostal
Myopathy, Centronuclear, 1	Autosomal Dominant Centronuclear Myopathy CNM1 Centronuclear Myopathy 1 Ad-Cnm Myopathy, Centronuclear, Autosomal Dominant Myotubular Myopathy, Autosomal Dominant Centronuclear Myopathy, Autosomal, Modifier Of Autosomal Dominant Myotubular Myopathy Dnm2-Related Centronuclear Myopathy Centronuclear Myopathy Autosomal Dominant Myopathies, Structural, Congenital Myopathy, Centronuclear, Type 1
Alagille Syndrome 1	Alagille Syndrome Arteriohepatic Dysplasia Alagille-Watson Syndrome Cholestasis With Peripheral Pulmonary Stenosis Hepatic Ductular Hypoplasia Alagille Syndrome Due To A Jag1 Point Mutation ALGS1 Algs Aws Syndromic Bile Duct Paucity Cardiovertebral Syndrome Hepatofacioneurocardiovertebral Syndrome Paucity Of Interlobular Bile Ducts Watson-Miller Syndrome Alagille Syndrome Due To 20p12 Microdeletion Ahd Hepatic Ductular Hypoplasia, Syndromatic Watson Alagille Syndrome Alagille'S Syndrome Alagille Syndrome Due To Del(20)(P12) Alagille Syndrome Due To Monosomy 20p12 Alagille-Watson Syndrome Due To Monosomy 20p12 Arteriohepatic Dysplasia Due To Monosomy 20p12 Syndromic Bile Duct Paucity Due To Monosomy 20p12 Alagille-Watson Syndrome Due To A Jag1 Point Mutation Arteriohepatic Dysplasia Due To A Jag1 Point Mutation Syndromic Bile Duct Paucity Due To A Jag1 Point Mutation Alagille Syndrome, Type 1
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-E70178	Protein O-Glucosyltransferase 1		/	Unkown
HY-RS10814	POGLUT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	POGLUT1	MGD	MGI:2444232
Felis catus	POGLUT1	VGNC	VGNC:64279
Macaca mulatta	POGLUT1	VGNC	VGNC:76094
Bos taurus	POGLUT1	VGNC	VGNC:33108
Canis familiaris	POGLUT1	VGNC	VGNC:44769
Rattus norvegicus	POGLUT1	RGD	RGD:1306248
Others	POGLUT1	NCBI