POGLUT1 - protein O-glucosyltransferase 1 Gene

Homo sapiens

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

Gene ID: 56983 | Gene type: protein coding

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

POGLUT1 Protein Structure

Glyco_transf_90

0
100
200
300
392 a.a.

Protein Preferred Names

Protein Names

protein O-glucosyltransferase 1

9630046K23Rik

Recombinant POGLUT1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P79227	POGLUT1 Protein, Human (CHO, His)	Q8NBL1 (M1-L388)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10814	POGLUT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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