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Aliases for LARGE1 Gene

Aliases for LARGE1 Gene

  • LARGE Xylosyl- And Glucuronyltransferase 1 2 3 5
  • Acetylglucosaminyltransferase-Like 1A 3 4
  • LARGE 3 4
  • Acetylglucosaminyltransferase-Like Protein 3
  • Glycosyltransferase-Like Protein LARGE1 3
  • Like-Acetylglucosaminyltransferase 2
  • Glycosyltransferase-Like Protein 4
  • Like-Glycosyltransferase 2
  • EC 2.4.-.- 4
  • KIAA0609 4
  • MDDGA6 3
  • MDDGB6 3
  • MDC1D 3

External Ids for LARGE1 Gene

Previous HGNC Symbols for LARGE1 Gene

  • LARGE

Summaries for LARGE1 Gene

Entrez Gene Summary for LARGE1 Gene

  • This gene, which is one of the largest in the human genome, 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. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]

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 A, 6 and Muscular Dystrophy-Dystroglycanopathy , Type B, 6. Among its related pathways are O-linked glycosylation and Mannose type O-glycan biosynthesis. 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).

Gene Wiki entry for LARGE1 Gene

Additional gene information for LARGE1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LARGE1 Gene

Genomics for LARGE1 Gene

Regulatory Elements for LARGE1 Gene

Enhancers for LARGE1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H033849 1.3 Ensembl ENCODE dbSUPER 23.3 +70.4 70392 5.1 TBP IRF2 TAF1 MAX ZNF384 EBF1 RAD21 YY1 ZFHX2 CTBP1 LARGE1 PIR40007 GC22P033824
GH22H033895 1.3 Ensembl ENCODE dbSUPER 17.3 +25.0 24990 5.3 PKNOX1 CHD4 RBBP5 FEZF1 BATF CTBP1 POLR2A EED SCRT2 ETV6 LARGE1 GC22M033909 GC22M033857
GH22H033869 0.9 FANTOM5 dbSUPER 21.5 +52.8 52767 0.2 ZFP69B ZNF692 ZNF629 ATF7 ATF2 TRIM28 LARGE1 GC22M033857 GC22M033909
GH22H033872 1 Ensembl ENCODE dbSUPER 18 +49.4 49401 1 ZFHX2 POLR2A ZNF398 EGR2 LARGE1 GC22M033857 GC22M033909
GH22H033883 1.1 ENCODE dbSUPER 16 +38.6 38622 1.9 KLF17 BATF FOS RUNX3 IKZF2 EGR2 CBFB JUNB ZNF398 ZNF217 LARGE1 GC22M033857 GC22M033909
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LARGE1 on UCSC Golden Path with GeneCards custom track

Promoters for LARGE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000145618 1841 4001 FOXA2 SIN3A YY1 ZNF121 GLIS2 ZNF143 RUNX3 SP3 NFYC REST

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)

Genomic View for LARGE1 Gene

Genes around LARGE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LARGE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LARGE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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};

    Alternative splice isoforms for LARGE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LARGE1 Gene

Post-translational modifications for LARGE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Graphical View of Domain Structure for InterPro Entry

O95461

UniProtKB/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.
genes like me logo Genes that share domains with LARGE1: view

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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with LARGE1: view
genes like me logo Genes that share phenotypes with LARGE1: view

Human Phenotype Ontology for LARGE1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for LARGE1 Gene

miRTarBase miRNAs that target LARGE1

Inhibitory RNA Products

Clone Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LARGE1 gene
Compartment Confidence
golgi apparatus 5
extracellular 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for LARGE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA,IDA 25279699
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030173 integral component of Golgi membrane TAS 9892679
genes like me logo Genes that share ontologies with LARGE1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LARGE1 Gene

Pathways & Interactions for LARGE1 Gene

genes like me logo Genes that share pathways with LARGE1: view

Pathways by source for LARGE1 Gene

UniProtKB/Swiss-Prot O95461-LARG1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for LARGE1 Gene

Gene Ontology (GO) - Biological Process for LARGE1 Gene

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 --
genes like me logo Genes that share ontologies with LARGE1: view

No data available for SIGNOR curated interactions for LARGE1 Gene

Drugs & Compounds for LARGE1 Gene

No Compound Related Data Available

Transcripts for LARGE1 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LARGE1 Gene

No ASD Table

Relevant External Links for LARGE1 Gene

GeneLoc Exon Structure for
LARGE1
ECgene alternative splicing isoforms for
LARGE1

Expression for LARGE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of LARGE1 Gene:

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(4.7)
  • 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
Organs:
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
genes like me logo Genes that share expression patterns with LARGE1: view

Primer 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.

Orthologs for LARGE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LARGE 33 34
  • 99.69 (n)
oppossum
(Monodelphis domestica)
Mammalia LARGE 34
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 94 (a)
OneToMany
-- 34
  • 90 (a)
OneToMany
cow
(Bos Taurus)
Mammalia LARGE 33 34
  • 91.62 (n)
dog
(Canis familiaris)
Mammalia LARGE 33 34
  • 91.23 (n)
mouse
(Mus musculus)
Mammalia Large 33 34
  • 88.8 (n)
Large1 16
chicken
(Gallus gallus)
Aves LARGE 33 34
  • 83.99 (n)
lizard
(Anolis carolinensis)
Reptilia LARGE 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498555 33
  • 83.61 (n)
Str.6025 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68636 33
zebrafish
(Danio rerio)
Actinopterygii large 33 34
  • 77.07 (n)
worm
(Caenorhabditis elegans)
Secernentea lge-1 34
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
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)

Paralogs for LARGE1 Gene

Paralogs for LARGE1 Gene

genes like me logo Genes that share paralogs with LARGE1: view

Variants for LARGE1 Gene

Sequence variations from dbSNP and Humsavar for LARGE1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs121908675 Pathogenic, Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 (MDDGB6) [MIM:608840] 33,304,434(-) ACGCC(A/G/T)AGGCC nc-transcript-variant, reference, missense, stop-gained
rs267607209 Pathogenic, Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6) [MIM:613154] 33,304,476(-) AGCAC(C/T)GGGAG nc-transcript-variant, reference, missense
rs267607210 Pathogenic, Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6) [MIM:613154] 33,384,205(-) TACAT(C/T)CTTAG nc-transcript-variant, reference, missense
VAR_075304 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6) [MIM:613154]
rs398124181 Pathogenic 33,381,948(-) CCGAG(C/T)AGTGC nc-transcript-variant, reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for LARGE1 Gene

Variant ID Type Subtype PubMed ID
esv3893476 CNV gain 25118596
esv3893477 CNV loss 25118596
esv4442 CNV loss 18987735
esv3647635 CNV loss 21293372
esv3647634 CNV loss 21293372
esv3647630 CNV loss 21293372
esv3647629 CNV loss 21293372
esv3647628 CNV loss 21293372
esv3647627 CNV loss 21293372
esv3647626 CNV loss 21293372
esv3647625 CNV loss 21293372
esv3647624 CNV loss 21293372
esv3647623 CNV loss 21293372
esv3568380 CNV loss 25503493
esv3568379 CNV loss 25503493
esv3568375 CNV loss 25503493
esv3558089 CNV deletion 23714750
esv3558087 CNV deletion 23714750
esv3558086 CNV deletion 23714750
esv3409744 CNV duplication 20981092
esv32905 CNV gain 17666407
esv32847 CNV loss 17666407
esv3235365 CNV deletion 24192839
esv3235304 CNV deletion 24192839
esv28179 CNV loss 19812545
esv27917 CNV loss 19812545
esv2763261 CNV loss 21179565
esv2758833 CNV loss 17122850
esv2758832 CNV gain+loss 17122850
esv2751963 CNV gain 17911159
esv2724169 CNV deletion 23290073
esv2724168 CNV deletion 23290073
esv2724167 CNV deletion 23290073
esv2724166 CNV deletion 23290073
esv2724165 CNV deletion 23290073
esv2724164 CNV deletion 23290073
esv2724163 CNV deletion 23290073
esv2724161 CNV deletion 23290073
esv2724160 CNV deletion 23290073
esv2724159 CNV deletion 23290073
esv2724158 CNV deletion 23290073
esv2724157 CNV deletion 23290073
esv2724156 CNV deletion 23290073
esv2678421 CNV deletion 23128226
esv2678147 CNV deletion 23128226
esv2675700 CNV deletion 23128226
esv2675236 CNV deletion 23128226
esv2674473 CNV deletion 23128226
esv2672479 CNV deletion 23128226
esv2659175 CNV deletion 23128226
esv2656562 CNV deletion 23128226
esv25278 CNV gain 19812545
esv2344186 CNV deletion 18987734
esv2121214 CNV deletion 18987734
esv1661802 CNV deletion 17803354
esv1173419 CNV deletion 17803354
esv1002745 CNV insertion 20482838
dgv840e214 CNV gain 21293372
dgv8090n54 CNV loss 21841781
dgv8089n54 CNV loss 21841781
dgv8088n54 CNV loss 21841781
dgv8087n54 CNV loss 21841781
dgv8086n54 CNV loss 21841781
dgv8085n54 CNV loss 21841781
dgv8084n54 CNV loss 21841781
dgv762n67 CNV gain 20364138
dgv4562n100 CNV gain 25217958
dgv2610e59 CNV tandem duplication 20981092
dgv1314e212 CNV loss 25503493
nsv953075 CNV deletion 24416366
nsv953074 CNV deletion 24416366
nsv829180 CNV loss 20364138
nsv829177 CNV loss 20364138
nsv820903 CNV deletion 20802225
nsv820301 CNV gain 19587683
nsv588938 CNV loss 21841781
nsv588937 CNV loss 21841781
nsv588936 CNV loss 21841781
nsv588935 CNV loss 21841781
nsv588934 CNV loss 21841781
nsv588933 CNV loss 21841781
nsv588932 CNV gain 21841781
nsv588931 CNV loss 21841781
nsv3603 CNV insertion 18451855
nsv3602 CNV insertion 18451855
nsv191505 CNV deletion 16902084
nsv191468 CNV insertion 16902084
nsv1160751 CNV deletion 26073780
nsv1147335 CNV deletion 26484159
nsv1143032 CNV tandem duplication 24896259
nsv1136671 CNV deletion 24896259
nsv1132915 CNV insertion 24896259
nsv1064026 CNV loss 25217958
nsv1063312 CNV loss 25217958
nsv1060896 CNV loss 25217958
nsv1060684 CNV loss 25217958
nsv1060316 CNV gain 25217958
nsv1059522 CNV gain 25217958
nsv1058261 CNV loss 25217958
nsv1056001 CNV loss 25217958
nsv1055791 CNV loss 25217958
nsv1055475 CNV gain 25217958
nsv1055203 CNV loss 25217958
esv994298 CNV deletion 20482838
esv5940 CNV gain 19470904
esv5012 CNV loss 18987735
nsv588930 CNV loss 21841781
nsv588925 CNV loss 21841781
nsv588919 CNV loss 21841781
nsv588899 CNV loss 21841781
nsv588898 CNV loss 21841781
nsv526550 CNV loss 19592680
nsv526030 CNV gain 19592680
nsv524432 CNV loss 19592680
nsv524156 CNV loss 19592680
nsv522709 CNV gain 19592680
nsv521249 CNV loss 19592680
nsv519677 CNV loss 19592680
nsv479018 CNV novel sequence insertion 20440878
nsv478959 CNV novel sequence insertion 20440878
nsv472159 CNV novel sequence insertion 20440878
nsv459878 CNV loss 19166990
nsv459876 CNV loss 19166990
nsv3604 CNV insertion 18451855

Variation tolerance for LARGE1 Gene

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)

Relevant External Links for LARGE1 Gene

Human Gene Mutation Database (HGMD)
LARGE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LARGE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LARGE1 Gene

Disorders for LARGE1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for LARGE1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy-dystroglycanopathy , type a, 6
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a6
muscular dystrophy-dystroglycanopathy , type b, 6
  • muscular dystrophy-dystroglycanopathy type b6
congenital muscular dystrophy with intellectual disability
  • cmd with intellectual disability
large1-related muscle diseases
  • congenital muscular dystrophy type 1d
muscle eye brain disease
  • meb
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

LARG1_HUMAN
  • 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.
  • 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.

Relevant External Links for LARGE1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LARGE1
genes like me logo Genes that share disorders with LARGE1: view

No data available for Genatlas for LARGE1 Gene

Publications for LARGE1 Gene

  1. 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 60
  2. 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 60
  3. Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE. (PMID: 22223806) Inamori K … Campbell KP (Science (New York, N.Y.) 2012) 2 3 4 60
  4. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PMID: 19299310) Mercuri E … Bertini E (Neurology 2009) 3 4 22 60
  5. 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 60

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