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 O-linked glycosylation and Metabolism of proteins. An important paralog of this gene is LARGE2.
UniProtKB/Swiss-Prot 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
- Monarch Initiative
- Search for LARGE1 at DataMed
- Search for LARGE1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LARGE1 Gene
Genomics for LARGE1 Gene
GeneHancer (GH) Regulatory Elements for LARGE1 Gene
Promoters and enhancers for LARGE1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH22J033919 | Promoter/Enhancer | 2.4 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 656.7 | +1.7 | 1662 | 4.4 | FOXA2 ARID4B SIN3A ZNF48 YY1 ZNF121 GLIS2 ZNF143 RUNX3 SP3 | LARGE1 ENSG00000273082 PIR41662 | |
| GH22J033801 | Promoter | 0.6 | EPDnew | 657 | +121.4 | 121440 | 0.1 | SETDB1 | LARGE1 GC22P033798 GC22P033824 GC22P033768 | |
| GH22J033923 | Enhancer | 0.6 | ENCODE | 650.7 | -1.0 | -1047 | 0.2 | CTCF ZNF654 ZEB2 RAD21 ZNF335 ZNF143 HNF4A EZH2 ZBTB17 SPI1 | ENSG00000273082 LARGE1 GC22M033970 | |
| GH22J033849 | Enhancer | 1.2 | Ensembl ENCODE dbSUPER | 23.3 | +70.4 | 70391 | 5.1 | IRF2 USF1 ZBTB6 TAF1 MAX SIN3A EBF1 RAD21 YY1 ZFHX2 | LARGE1 PIR40007 GC22P033824 GC22P033768 | |
| GH22J033895 | Enhancer | 1.2 | Ensembl ENCODE dbSUPER | 17.3 | +25.0 | 24989 | 5.3 | ZNF768 PKNOX1 CHD4 MZF1 SIN3A EBF1 RBBP5 FEZF1 BATF CTBP1 | LARGE1 GC22M033909 GC22M033857 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around LARGE1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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 Entrez Gene
- 22q12.3 by HGNC
- 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=Translation N-terminally shortened.; 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
- Invitrogen Antibodies for LARGE1
- GeneTex LARGE1 Antibody for LARGE1
Protein Products
-
OriGene Purified Proteins for LARGE1
- Search Origene for MassSpec and Protein Over-expression Lysates for LARGE1
- Origene Custom Protein Services for LARGE1
- antibodies-online: Search results for 6 available LARGE Proteins ranked by validation data
- Compare Top LARGE Proteins
-
Quality Products:
- Search GeneTex for Proteins for LARGE1
Assay Products
- antibodies-online: Search results for 3 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:
- ProtoNet:
Suggested Antigen Peptide Sequences for LARGE1 Gene
- GenScript: Design optimal peptide antigens:
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 | TAS | 9892679 |
Phenotypes for LARGE1 Gene
- MGI mutant phenotypes for LARGE1:
-
inferred from 4 alleles
- cardiovascular system phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- craniofacial phenotype
- reproductive system phenotype
- skeleton phenotype
- hearing/vestibular/ear phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for LARGE1:
-
- Decreased viability ratio
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Decreased hepcidin::fluc mRNA expression
- Decreased influenza A/WSN/33 replication
- shRNA abundance <= 50%
- Increased viability
- Increased transferrin (TF) endocytosis
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for LARGE1
-
CRISPR Products
-
OriGene CRISPR knockouts for LARGE1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LARGE1
- genomics-online: gRNA clones - Search results for available LARGE gene related products
- Applied Biological Materials CRISPR for LARGE1
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for LARGE1
miRNA for LARGE1 Gene
- miRTarBase miRNAs that target LARGE1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, 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
- genomics-online: shRNA clones - Search results for available LARGE gene related products
Clone Products
- Sino Biological Human cDNA Clone for LARGE1
- VectorBuilder custom plasmid, inducible vectors for LARGE1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LARGE1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LARGE1
- genomics-online: cdna clones - Search results for available LARGE gene related products
- orf clones - Search results for available LARGE gene related products
- Applied Biological Materials Clones for LARGE1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 |
| extracellular | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005794 | Golgi apparatus | IDA,IEA | 25279699 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0030173 | integral component of Golgi membrane | TAS | 9892679 |
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
IID
STRING
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
- (12) REFSEQ mRNAs :
- (156) Selected AceView cDNA sequences:
- (16) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000354992 4409 bps (uc003and.5)
- ENST00000397394 4138 bps (uc003ane.4)
- ENST00000402320 3955 bps (uc010gwp.4)
- ENST00000413114 773 bps (uc062dow.1)
- ENST00000421232 596 bps (uc062doq.1)
CRISPR Products
-
OriGene CRISPR knockouts for LARGE1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LARGE1
- genomics-online: gRNA clones - Search results for available LARGE gene related products
- Applied Biological Materials CRISPR for LARGE1
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for LARGE1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, 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
- genomics-online: shRNA clones - Search results for available LARGE gene related products
Clone Products
- Sino Biological Human cDNA Clone for LARGE1
- VectorBuilder custom plasmid, inducible vectors for LARGE1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LARGE1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LARGE1
- genomics-online: cdna clones - Search results for available LARGE gene related products
- orf clones - Search results for available LARGE gene related products
- Applied Biological Materials Clones for LARGE1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for LARGE1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
NURSA nuclear receptor signaling pathways regulating expression of LARGE1 Gene:
LARGE1mRNA 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(2.4)
- Heart(2.2)
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
- genomics-online: primer clones - Search results for available LARGE gene related products
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 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | LARGE 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | LARGE 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | LARGE 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Large 34 33 |
|
OneToOne | |
| Large1 16 |
|
||||
| chicken (Gallus gallus) |
Aves | LARGE 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | LARGE 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100498555 33 |
|
||
| Str.6025 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68636 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | large 34 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | lge-1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany |
- Species where no ortholog for LARGE1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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
| SNP ID | Clin | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1005947326 | uncertain-significance, Congenital Muscular Dystrophy, alpha-dystroglycan related, Walker-Warburg Syndrome | 33,273,972(-) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant | |
| rs1017256825 | uncertain-significance, Congenital Muscular Dystrophy, alpha-dystroglycan related, Walker-Warburg Syndrome | 33,920,154(-) | G/A | 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant | |
| rs1033480447 | uncertain-significance, Walker-Warburg Syndrome, Congenital Muscular Dystrophy, alpha-dystroglycan related | 33,920,189(-) | A/C | 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant | |
| rs1046166 | conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, not specified, Congenital Muscular Dystrophy, alpha-dystroglycan related, Walker-Warburg Syndrome, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 33,277,139(-) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant | |
| rs113253213 | conflicting-interpretations-of-pathogenicity, benign, not specified, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 33,304,315(-) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_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
(12) MalaCards diseases for LARGE1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| muscular dystrophy-dystroglycanopathy , type b, 6 |
|
|
| muscular dystrophy-dystroglycanopathy , type a, 6 |
|
|
| congenital muscular dystrophy with intellectual disability |
|
|
| walker-warburg syndrome |
|
|
| muscular dystrophy-dystroglycanopathy , type a, 1 |
|
|
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 22 58
- 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 22 58
- Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE. (PMID: 22223806) Inamori K … Campbell KP (Science (New York, N.Y.) 2012) 2 3 4 58
- Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PMID: 19299310) Mercuri E … Bertini E (Neurology 2009) 3 4 22 58
- Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. (PMID: 15661757) Brockington M … Muntoni F (Human molecular genetics 2005) 3 4 22 58
Products for LARGE1 Gene
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- Custom Antibody ServicesOriGene Antibodies for LARGE1
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- VectorBuilder custom plasmid, inducible vectors for LARGE1
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- Mammalian expression: PiggyBac
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 40 available LARGE Antibodies ranked by validation data
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- antibodies-online: Search results for 6 available LARGE Proteins ranked by validation data
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- GeneTex LARGE1 Antibody for LARGE1
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- Horizon Cell Lines for LARGE1
- genomics-online: cdna clones - Search results for available LARGE gene related products
- orf clones - Search results for available LARGE gene related products
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- Browse GeneCopoeia Cell Lines
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Sources for LARGE1 Gene
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