Free for academic non-profit institutions. Other users need a Commercial license
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 glycotransfe... See more...
Aliases for LARGE1 Gene
Aliases for LARGE1 Gene
External Ids for LARGE1 Gene
- HGNC: 6511
- Entrez Gene: 9215
- Ensembl: ENSG00000133424
- OMIM: 603590
- UniProtKB: O95461
Previous HGNC Symbols for LARGE1 Gene
- LARGE
Summaries for LARGE1 Gene
-
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]
GeneCards Summary for LARGE1 Gene
LARGE1 (LARGE Xylosyl- And Glucuronyltransferase 1) is a Protein Coding gene. Diseases associated with LARGE1 include Muscular Dystrophy-Dystroglycanopathy , Type B, 6 and Muscular Dystrophy-Dystroglycanopathy , Type A, 6. Among its related pathways are Metabolism of proteins and Metabolism. An important paralog of this gene is LARGE2.
UniProtKB/Swiss-Prot Summary for LARGE1 Gene
-
Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:22223806). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity and plays a key role in skeletal muscle function and regeneration. LARGE elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure initiated by B3GNT1/B4GAT1 by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide (PubMed:25279699).
Additional gene information for LARGE1 Gene
- HGNC(6511)
- Entrez Gene(9215)
- Ensembl(ENSG00000133424)
- OMIM(603590)
- UniProtKB(O95461)
- Open Targets Platform(ENSG00000133424)
- Monarch Initiative
- Search for LARGE1 at DataMed
- Search for LARGE1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LARGE1 Gene
Genomics for LARGE1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for LARGE1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around LARGE1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LARGE1
Genomic Locations for LARGE1 Gene
Genomic Locations for LARGE1 Gene
- chr22:33,162,226-33,922,841
- (GRCh38/hg38)
- Size:
- 760,616 bases
- Orientation:
- Minus strand
- chr22:33,558,212-34,318,829
- (GRCh37/hg19)
- Size:
- 760,618 bases
- Orientation:
- Minus strand
Genomic View for LARGE1 Gene
Genes around LARGE1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q12.3 by HGNC
- 22q12.3 by Entrez Gene
- 22q12.3 by Ensembl
LARGE1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for LARGE1 Gene
Proteins for LARGE1 Gene
-
Protein details for LARGE1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O95461-LARG1_HUMAN
- Recommended name:
- LARGE xylosyl- and glucuronyltransferase 1
- Protein Accession:
- O95461
- B0QXZ7
- O60348
- Q17R80
- Q9UGD1
- Q9UGE7
- Q9UGG3
- Q9UGZ8
- Q9UH22
Protein attributes for LARGE1 Gene
- Size:
- 756 amino acids
- Molecular mass:
- 88066 Da
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Quaternary structure:
-
- Interacts with DAG1 (via the N-terminal domain of alpha-DAG1); the interaction increases binding of DAG1 to laminin (By similarity). Interacts with B3GNT1/B4GAT1 (PubMed:19587235).
- SequenceCaution:
-
- Sequence=BAA25535.3; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Post-translational modifications for LARGE1 Gene
Other Protein References for LARGE1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for LARGE1
- Novus Biologicals Antibodies for LARGE1
-
Abcam antibodies for LARGE1
- Invitrogen Antibodies for LARGE1 (AFLGC-Large1)
-
Boster Bio Antibodies for LARGE1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for LARGE1
- Origene Custom Protein Services for LARGE1
- antibodies-online: Show 7 available LARGE Proteins ranked by validation data
- Compare Top LARGE Proteins
-
Quality Products:
-
Abcam proteins for LARGE1
Assay Products
- antibodies-online: Show 4 available LARGE Elisa Kits ranked by validation data
- Compare Top LARGE Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for LARGE1 Gene
Domains & Families for LARGE1 Gene
Gene Families for LARGE1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for LARGE1 Gene
- InterPro:
- Blocks:
-
- Glycosyl transferase, family 8
- ProtoNet:
Suggested Antigen Peptide Sequences for LARGE1 Gene
- GenScript: Design optimal peptide antigens:
-
- Like-glycosyltransferase (B0QY11_HUMAN)
- Like-glycosyltransferase (B7ZB84_HUMAN)
- Like-glycosyltransferase (B7ZB85_HUMAN)
- Acetylglucosaminyltransferase-like 1A (LARGE_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O95461UniProtKB/Swiss-Prot:
LARG1_HUMAN :- In the C-terminal section; belongs to the glycosyltransferase 49 family.
- Family:
-
- In the C-terminal section; belongs to the glycosyltransferase 49 family.
- In the N-terminal section; belongs to the glycosyltransferase 8 family.
Function for LARGE1 Gene
Molecular function for LARGE1 Gene
- UniProtKB/Swiss-Prot Function:
- Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:22223806). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity and plays a key role in skeletal muscle function and regeneration. LARGE elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure initiated by B3GNT1/B4GAT1 by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide (PubMed:25279699).
Enzyme Numbers (IUBMB) for LARGE1 Gene
Phenotypes From GWAS Catalog for LARGE1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0008375 | acetylglucosaminyltransferase activity | TAS | 9892679 |
| GO:0015020 | glucuronosyltransferase activity | TAS | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016757 | transferase activity, transferring glycosyl groups | IBA,TAS | 9892679 |
Phenotypes for LARGE1 Gene
- MGI mutant phenotypes for LARGE1:
-
inferred from 4 alleles
- nervous system phenotype
- immune system phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for LARGE1:
-
- Decreased hepcidin::fluc mRNA expression
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- shRNA abundance <= 50%
- Decreased viability ratio
- Increased gamma-H2AX phosphorylation
- Decreased influenza A/WSN/33 replication
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Increased epidermal growth factor (EGF) endocytosis, increased transferrin (TF) endocytosis
- Decreased viability in colon lineage; decreased viability in glioblastoma multiforme (GBM) lineage
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for LARGE1 - Select products 50% OFF >
- * LARGE1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for LARGE1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LARGE1
miRNA for LARGE1 Gene
- miRTarBase miRNAs that target LARGE1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LARGE1
- Browse OriGene Inhibitory RNA Products For LARGE1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LARGE1
Clone Products
- Applied Biological Materials (abm): Clones for LARGE1 - Select products 50% OFF >
- * LARGE1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for LARGE1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LARGE1
Cell Line Products
-
Horizon Cell Lines for LARGE1
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for LARGE1 Gene
Localization for LARGE1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for LARGE1 Gene
- Golgi apparatus membrane. Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| nucleus | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005623 | cell | IEA | -- |
| GO:0005794 | Golgi apparatus | IBA,IDA | 25279699 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for LARGE1 Gene
Pathways & Interactions for LARGE1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of proteins | ||
| 2 | Mannose type O-glycan biosynthesis | ||
| 3 | Metabolism | ||
| 4 | O-linked glycosylation | ||
Pathways by source for LARGE1 Gene
3 Reactome pathways for LARGE1 Gene
2 KEGG pathways for LARGE1 Gene
UniProtKB/Swiss-Prot O95461-LARG1_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for LARGE1 Gene
Selected Interacting proteins:
O95461-LARG1_HUMAN
ENSP00000347088
for LARGE1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for LARGE1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006044 | N-acetylglucosamine metabolic process | TAS | 9892679 |
| GO:0006486 | protein glycosylation | TAS | 9892679 |
| GO:0006493 | protein O-linked glycosylation | TAS | -- |
| GO:0006688 | glycosphingolipid biosynthetic process | TAS | 9892679 |
| GO:0008152 | metabolic process | IEA | -- |
No data available for SIGNOR curated interactions for LARGE1 Gene
Transcripts for LARGE1 Gene
mRNA/cDNA for LARGE1 Gene
- 13 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000354992 4409 nts (view in UCSC)
- ENST00000397394 4138 nts (view in UCSC)
- ENST00000402320 3955 nts (view in UCSC)
- ENST00000413114 773 nts (view in UCSC)
- ENST00000421232 596 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for LARGE1 - Select products 50% OFF >
- * LARGE1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for LARGE1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LARGE1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LARGE1
- Browse OriGene Inhibitory RNA Products For LARGE1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LARGE1
Clone Products
- Applied Biological Materials (abm): Clones for LARGE1 - Select products 50% OFF >
- * LARGE1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for LARGE1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LARGE1
Relevant External Links for LARGE1 Gene
- GeneLoc Exon Structure for
- LARGE1
Expression for LARGE1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LARGE1
mRNA Expression by UniProt/SwissProt for LARGE1 Gene:
O95461-LARG1_HUMAN
Tissue specificity:
Ubiquitous. Highest expression in heart, brain and skeletal muscle.
Evidence on tissue expression from TISSUES for LARGE1 Gene
- Nervous system(4.8)
- Lung(4.4)
- Muscle(2.6)
- Skin(2.6)
- Heart(2.5)
Phenotype-based relationships between genes and organs from Gene ORGANizer for LARGE1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cheek
- chin
- cranial nerve
- ear
- eye
- face
- forehead
- head
- inner ear
- jaw
- larynx
- lip
- mandible
- maxilla
- meninges
- middle ear
- mouth
- neck
- nose
- outer ear
- pituitary gland
- skull
- tongue
- vocal cord
Thorax:
- breast
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- intestine
- kidney
- large intestine
Pelvis:
- anus
- ovary
- pelvis
- penis
- placenta
- prostate
- rectum
- testicle
- ureter
- uterus
- vagina
- vulva
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for LARGE1
Gene Expression Assay Products
No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for LARGE1 Gene
Orthologs for LARGE1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | LARGE 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | LARGE 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Cow (Bos Taurus) |
Mammalia | LARGE 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | LARGE 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Large 30 31 |
|
OneToOne | |
| Large1 17 |
|
||||
| Chicken (Gallus gallus) |
Aves | LARGE 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | LARGE 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100498555 30 |
|
||
| Str.6025 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68636 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | large 30 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | lge-1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
- Species where no ortholog for LARGE1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for LARGE1 Gene
- ENSEMBL:
- Gene Tree for LARGE1 (if available)
- TreeFam:
- Gene Tree for LARGE1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for LARGE1: view image
Paralogs for LARGE1 Gene
Variants for LARGE1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LARGE1 Gene
| SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 640034 | Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 33,650,554(-) | T/G | MISSENSE_VARIANT | |
| 641911 | Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 33,650,381(-) | C/T | MISSENSE_VARIANT | |
| 642137 | Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 33,316,104(-) | C/T | MISSENSE_VARIANT | |
| 645196 | Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 33,650,569(-) | A/G | MISSENSE_VARIANT | |
| 646799 | Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 33,304,438(-) | G/T | MISSENSE_VARIANT |
Residual Variation Intolerance Score:
8.18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.75;
57.85% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for LARGE1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LARGE1 Gene
Disorders for LARGE1 Gene
(15) MalaCards diseases for LARGE1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| muscular dystrophy-dystroglycanopathy , type b, 6 |
|
|
| muscular dystrophy-dystroglycanopathy , type a, 6 |
|
|
| congenital muscular dystrophy-dystroglycanopathy type a6 |
|
|
| congenital muscular dystrophy with intellectual disability |
|
|
| walker-warburg syndrome |
|
Search LARGE1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
LARG1_HUMAN- Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 (MDDGB6) [MIM:608840]: A congenital muscular dystrophy associated with profound mental retardation, white matter changes and structural brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha-dystroglycan. {ECO:0000269 PubMed:12966029}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6) [MIM:613154]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269 PubMed:19067344, ECO:0000269 PubMed:19299310, ECO:0000269 PubMed:24709677}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for LARGE1
No data available for Genatlas for LARGE1 Gene
Publications for LARGE1 Gene
- Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. (PMID: 12966029) Longman C … Muntoni F (Human molecular genetics 2003) 2 3 4 23
- The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family. (PMID: 9892679) Peyrard M … Dumanski JP (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 23
- Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE. (PMID: 22223806) Inamori K … Campbell KP (Science (New York, N.Y.) 2012) 2 3 4
- Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PMID: 19299310) Mercuri E … Bertini E (Neurology 2009) 3 4 23
- LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE. (PMID: 15752776) Fujimura K … Narimatsu H (Biochemical and biophysical research communications 2005) 3 4 23
ExternalLinks
Products for LARGE1 Gene
- Custom Antibody ServicesOriGene Antibodies for LARGE1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for LARGE1
- Origene Custom Protein Services for LARGE1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LARGE1
- Browse OriGene Inhibitory RNA Products For LARGE1
- OriGene qPCR primer pairs for LARGE1
- OriGene CRISPR knockouts for LARGE1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For LARGE1
- Sino Biological Human cDNA Clone for LARGE1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for LARGE1
- Novus Biologicals proteins and lysates for LARGE1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for LARGE1
- Abcam proteins for LARGE1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for LARGE1 (AFLGC-Large1)
- VectorBuilder Custom and pre-made DNA vectors for LARGE1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for LARGE1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for LARGE1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for LARGE1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for LARGE1
- antibodies-online: Show 852 available LARGE Antibodies ranked by validation data
- Compare Top LARGE Antibodies
- antibodies-online: Show 4 available LARGE Elisa Kits ranked by validation data
- Compare Top LARGE Elisa Kits
- Quality Products:
- antibodies-online: Show 7 available LARGE Proteins ranked by validation data
- Compare Top LARGE Proteins
- Quality Products:
- Horizon Cell Lines for LARGE1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LARGE1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LARGE1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for LARGE1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LARGE1
- Boster Bio Antibodies for LARGE1
- Browse Boster Bio ELISA Kits
Sources for LARGE1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB