LARGE1 - LARGE xylosyl- and glucuronyltransferase 1 Gene

Also Known as LARGE; MDC1D; MDDGA6; MDDGB6

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9215

About LARGE1

Cytogenetic location: 22q12.3 Genomic coordinates (GRCh38): 22:33,066,663-33,922,824 (from NCBI)

This gene has 32 transcripts (splice variants), 227 orthologues, 5 paralogues and is associated with 7 phenotypes. Ubiquitous expression in brain (RPKM 9.1), heart (RPKM 8.9) and 23 other tissues.

Summary

This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a Glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018]

LARGE1 Products (26)

mRNA Protein Name
NM_001362949.2 NP_001349878.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001362951.2 NP_001349880.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001362953.2 NP_001349882.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001378624.1 NP_001365553.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001378625.1 NP_001365554.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001378626.1 NP_001365555.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001378627.1 NP_001365556.1 xylosyl- and glucuronyltransferase LARGE1 isoform 2
NM_001378628.1 NP_001365557.1 xylosyl- and glucuronyltransferase LARGE1 isoform 2
NM_001378629.1 NP_001365558.1 xylosyl- and glucuronyltransferase LARGE1 isoform 3
NM_001378630.1 NP_001365559.1 xylosyl- and glucuronyltransferase LARGE1 isoform 4
NM_001378631.1 NP_001365560.1 xylosyl- and glucuronyltransferase LARGE1 isoform 5
NM_004737.7 NP_004728.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_133642.5 NP_598397.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001362949.2 NP_001349878.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001362951.2 NP_001349880.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001362953.2 NP_001349882.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001378624.1 NP_001365553.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001378625.1 NP_001365554.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001378626.1 NP_001365555.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001378627.1 NP_001365556.1 xylosyl- and glucuronyltransferase LARGE1 isoform 2
NM_001378628.1 NP_001365557.1 xylosyl- and glucuronyltransferase LARGE1 isoform 2
NM_001378629.1 NP_001365558.1 xylosyl- and glucuronyltransferase LARGE1 isoform 3
NM_001378630.1 NP_001365559.1 xylosyl- and glucuronyltransferase LARGE1 isoform 4
NM_001378631.1 NP_001365560.1 xylosyl- and glucuronyltransferase LARGE1 isoform 5
NM_004737.7 NP_004728.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_133642.5 NP_598397.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables glucuronosyltransferase activity IDA
IDA: Inferred from direct assay
22223806 GOA
enables hexosyltransferase activity IDA
IDA: Inferred from direct assay
32975514 GOA
enables manganese ion binding IDA
IDA: Inferred from direct assay
25138275 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
19587235 GOA
enables xylosyltransferase activity IDA
IDA: Inferred from direct assay
22223806 GOA
Biological Process GO Annotation Evidence References Source
involved in protein O-linked mannosylation IDA
IDA: Inferred from direct assay
22223806 GOA
involved in protein glycosylation IMP
IMP: Inferred from mutant phenotype
32975514 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
25279699 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

LARGE1 Protein Structure

Glyco_transf_8

Glyco_transf_8: Glycosyl transferase family 8 (152 - 386)

Glyco_transf_49

Glyco_transf_49: Glycosyl-transferase for dystroglycan (536 - 743)

  • 0
  • 200
  • 400
  • 600
  • 756 a.a.
Protein Preferred Names Protein Names

xylosyl- and glucuronyltransferase LARGE1

  • acetylglucosaminyltransferase-like 1A

Related Diseases

Diseases Alias
Muscular Dystrophy-Dystroglycanopathy , Type B, 6

  • Muscular Dystrophy-Dystroglycanopathy Type B6

  • MDDGB6

  • Mdc1d

  • Muscular Dystrophy, Congenital, Type 1d

  • Congenital Muscular Dystrophy Type 1d

  • Dystrophy, Muscular, Dystroglycanopathy , Type B6

  • Muscular Dystrophy, Congenital, Large-Related

  • Congenital Muscular Dystrophy Large-Related

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6

  • Muscular Dystrophy Large-Related
Muscular Dystrophy-Dystroglycanopathy , Type A, 6

  • MDDGA6

  • Muscular Dystrophy-Dystroglycanopathy , Type A6

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Large-Related

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A6

  • Muscle-Eye-Brain Disease Large-Related

  • Walker-Warburg Syndrome Large-Related

  • Dystrophy, Muscular, Dystroglycanopathy , Type A6
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
Congenital Muscular Dystrophy With Intellectual Disability

  • Cmd With Intellectual Disability

  • Cmd-Mr
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
Muscular Dystrophy-Dystroglycanopathy , Type A, 1

  • Hard Syndrome

  • MDDGA1

  • Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

  • Cod-Md Syndrome

  • Muscular Dystrophy-Dystroglycanopathy , Type A1

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related

  • Hydrocephalus, Agyria, And Retinal Dysplasia

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A1

  • Cerebroocular Dysgenesis

  • Cod

  • Hard +/- E Syndrome

  • Hydrocephalus-Agyria-Retinal Dysplasia

  • Meb

  • Muscle-Eye-Brain Disease

  • Muscle-Eye-Brain Disease Pomt1-Related

  • Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 1a

  • Walker-Warburg Syndrome

  • Walker-Warburg Syndrome Pomt1-Related

  • Warburg Syndrome

  • Wws

  • Dystrophy, Muscular, Dystroglycanopathy , Type A1

  • Walker-Warburg Congenital Muscular Dystrophy

  • Muscle Eye Brain Disease
Cone-Rod Dystrophy 2

  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy
Retinitis Pigmentosa

  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1
Muscle Eye Brain Disease

  • Muscle-Eye-Brain Disease

  • Muscle-Eye-Brain Syndrome

  • Meb

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3

  • Meb Syndrome

  • Santavuori Congenital Muscular Dystrophy
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
Muscular Dystrophy-Dystroglycanopathy , Type A, 4

  • Fukuyama Congenital Muscular Dystrophy

  • Fcmd

  • MDDGA4

  • Fukuyama Type Congenital Muscular Dystrophy

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related

  • Cerebromuscular Dystrophy, Fukuyama Type

  • Fukuyama Cmd

  • Fukuyama Muscular Dystrophy

  • Fukuyama Syndrome

  • Muscular Dystrophy, Congenital Progressive, With Mental Retardation

  • Muscular Dystrophy, Congenital, Fukuyama Type

  • Muscular Dystrophy, Congenital, With Central Nervous System Involvement

  • Polymicrogyria With Muscular Dystrophy

  • Congenital Muscular Dystrophy, Fukuyama Type

  • Fktn-Related Congenital Muscular Dystrophy

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4

  • Cerebromuscular Dystrophy Fukuyama Type

  • Congenital Muscular Dystrophy Fukuyama Type

  • Micropolygyria With Muscular Dystrophy

  • Muscle-Eye-Brain Disease Fktn-Related

  • Walker-Warburg Syndrome Fktn-Related
Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A12

  • Mddga12

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Pomk-Related
Ablepharon-Macrostomia Syndrome

  • Ablepharon Macrostomia Syndrome

  • AMS

  • Congenital Ablepharon, Absent Eyelashes/Eyebrows, Macrostomia, Auricular, Nasal, Genital And Other Systemic Anomalies

  • Eye Abnormalities
Lissencephaly

  • Pachygyria

  • Broad Gyri Of Cerebrum

  • Large Gyri Of Cerebrum

  • Macrogyria
Cobblestone Lissencephaly

  • Lissencephaly Type 2

  • Lissencephaly, Cobblestone
Muscular Dystrophy-Dystroglycanopathy

  • Cmd Due To Dystroglycanopathy

  • Congenital Muscular Dystrophy Due To Dystroglycanopathy

  • Mddg

  • Dystrophy, Muscular, Dystroglycanopathy
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
Substernal Goiter

  • Retrosternal Thyroid Goiter

  • Retrosternal Thyroid Goitre

  • Substernal Goitre

  • Goiter, Substernal
Muscular Dystrophy-Dystroglycanopathy , Type B, 1

  • MDDGB1

  • Muscular Dystrophy-Dystroglycanopathy , Type B1

  • Muscular Dystrophy, Congenital, Pomt1-Related

  • Muscular Dystrophy-Dystroglycanopathy Type B1

  • Cmd Due To Dystroglycanopathy

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1

  • Muscular Dystrophy Congenital Pomt1-Related

  • Muscular Dystrophy-Dystroglycanopathy

  • Dystrophy, Muscular, Dystroglycanopathy , Type B1
Cardiomyopathy, Dilated, 1kk

  • Cardiomyopathy, Familial Restrictive, 4

  • Dilated Cardiomyopathy 1kk

  • CMD1KK

  • Cardiomyopathy, Hypertrophic, 22

  • Cardiomyopathy, Dilated 1kk

  • Cardiomyopathy, Familial Hypertrophic 22

  • CMH22

  • Cardiomyopathy, Familial Restrictive 4

  • RCM4

  • Familial Hypertrophic Cardiomyopathy 22

  • Cardiomyopathy, Dilated, Type 1kk

  • Cardiomyopathy, Familial Hypertrophic, 22
Cardiomyopathy, Familial Hypertrophic, 9

  • Hypertrophic Cardiomyopathy 9

  • CMH9

  • Cardiomyopathy, Familial Hypertrophic 9

  • Cardiomyopathy, Hypertrophic, Familial, Type 9
Congenital Muscular Dystrophy-Dystroglycanopathy Type A

  • Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies

  • Mddga

  • Klissencephaly Type 2 With Muscular And Ocular Involvement

  • Lissencephaly Type 2 With Muscular And Ocular Involvement
Brown-Vialetto-Van Laere Syndrome 2

  • BVVLS2

  • Rfvt3-Related Riboflavin Transporter Deficiency

  • Rtd3

  • Riboflavin Transporter Deficiency 3

  • Brown-Vialetto-Van Laere Syndrome, Type 2
Lassa Fever

  • Lf

  • Lassa Hemorrhagic Fever

  • Lf - [Lassa Fever]
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 (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS07524 LARGE1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus LARGE1 RGD RGD:1308895
Macaca mulatta LARGE1 VGNC VGNC:74236
Mus musculus LARGE1 MGD MGI:1342270
Canis familiaris LARGE1 VGNC VGNC:42585
Felis catus LARGE1 VGNC VGNC:68019
Bos taurus LARGE1 VGNC VGNC:54444
Others LARGE1 NCBI