1. Gene
  2. POGLUT1 - protein O-glucosyltransferase 1 Gene

POGLUT1 - protein O-glucosyltransferase 1 Gene

中文名称:蛋白 O-葡萄糖基转移酶 1

种属: Homo sapiens

同用名: Rumi; CLP46; MDSRP; C3orf9; KTELC1; LGMD2Z; MDS010; hCLP46; KDELCL1; LGMDR21

基因 ID: 56983 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质具有 O-葡糖基转移酶和 O-木糖基转移酶活性,定位于内质网腔。该蛋白质具有羧基末端 KTEL 基序,预计其可作为内质网滞留信号发挥作用。该基因是 Notch 信号的重要调节因子,可能在发育过程中的细胞命运和组织形成中发挥作用。它也可能在白血病的发病机制中发挥作用。该基因的突变与常染色体显性遗传性皮肤病 Dowling-Degos 病 4 有关。可变剪接导致多种转录物变异。[RefSeq 提供,2014 年 4 月]

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 基因产物(1)

mRNA Protein Name
NM_152305.3 NP_689518.1 protein O-glucosyltransferase 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables UDP-glucosyltransferase activity IDA
IDA: 通过直接分析推断
21081508 GOA
enables UDP-glucosyltransferase activity IMP
IMP: 通过突变表型推断
27807076 GOA
enables UDP-xylosyltransferase activity IMP
IMP: 通过突变表型推断
27807076 GOA
enables glucosyltransferase activity IDA
IDA: 通过直接分析推断
21949356 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in muscle tissue development IMP
IMP: 通过突变表型推断
27807076 GOA
involved in positive regulation of Notch signaling pathway IMP
IMP: 通过突变表型推断
27807076 GOA
acts upstream of or within protein O-linked glycosylation IDA
IDA: 通过直接分析推断
21949356 GOA
involved in protein O-linked glycosylation via serine IDA
IDA: 通过直接分析推断
30127001 GOA
involved in protein O-linked glycosylation via serine IMP
IMP: 通过突变表型推断
27807076 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum lumen IDA
IDA: 通过直接分析推断
16524674 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

POGLUT1 蛋白结构

Glyco_transf_90

Glyco_transf_90: Glycosyl transferase family 90 (50 - 388)

  • 0
  • 100
  • 200
  • 300
  • 392 a.a.
蛋白主名 其他名称

protein O-glucosyltransferase 1

9630046K23Rik

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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