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Aliases for LARGE Gene

Aliases for LARGE Gene

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

External Ids for LARGE Gene

Previous GeneCards Identifiers for LARGE Gene

  • GC22M030365
  • GC22M031993
  • GC22M033561
  • GC22M016626
  • GC22M033668

Summaries for LARGE Gene

Entrez Gene Summary for LARGE 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 mental retardation 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 LARGE Gene

LARGE (Like-Glycosyltransferase) is a Protein Coding gene. Diseases associated with LARGE include Muscular Dystrophy-Dystroglycanopathy , Type A, 6 and Muscular Dystrophy-Dystroglycanopathy , Type B, 6. Among its related pathways are Transport to the Golgi and subsequent modification and O-linked glycosylation. GO annotations related to this gene include transferase activity, transferring glycosyl groups and manganese ion binding. An important paralog of this gene is B4GAT1.

UniProtKB/Swiss-Prot for LARGE 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 LARGE Gene

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

Genomics for LARGE Gene

Regulatory Elements for LARGE Gene

Enhancers for LARGE Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LARGE on UCSC Golden Path with GeneCards custom track

Promoters for LARGE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LARGE on UCSC Golden Path with GeneCards custom track

Genomic Location for LARGE Gene

Chromosome:
22
Start:
33,162,226 bp from pter
End:
33,922,841 bp from pter
Size:
760,616 bases
Orientation:
Minus strand

Genomic View for LARGE Gene

Genes around LARGE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LARGE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LARGE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LARGE Gene

Proteins for LARGE Gene

  • Protein details for LARGE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95461-LARGE_HUMAN
    Recommended name:
    Glycosyltransferase-like protein LARGE1
    Protein Accession:
    O95461
    Secondary Accessions:
    • B0QXZ7
    • O60348
    • Q17R80
    • Q9UGD1
    • Q9UGE7
    • Q9UGG3
    • Q9UGZ8
    • Q9UH22

    Protein attributes for LARGE 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 LARGE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LARGE Gene

Proteomics data for LARGE Gene at MOPED

Post-translational modifications for LARGE Gene

  • Glycosylation at Asn 97, Asn 122, Asn 148, and Asn 272
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cloud-Clone Corp. Antibodies for LARGE

No data available for DME Specific Peptides for LARGE Gene

Domains & Families for LARGE Gene

Gene Families for LARGE Gene

Protein Domains for LARGE Gene

Graphical View of Domain Structure for InterPro Entry

O95461

UniProtKB/Swiss-Prot:

LARGE_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 LARGE: view

Function for LARGE Gene

Molecular function for LARGE Gene

GENATLAS Biochemistry:
large new member of the glycosyltransferase gene family,putative N-acetylglucosaminyl transferase,ubiquitously expressed,localized in the meningioma critical region,see also MN1
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 LARGE Gene

Gene Ontology (GO) - Molecular Function for LARGE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015020 glucuronosyltransferase activity IDA,TAS --
GO:0030145 manganese ion binding IDA 25138275
genes like me logo Genes that share ontologies with LARGE: view
genes like me logo Genes that share phenotypes with LARGE: view

Human Phenotype Ontology for LARGE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for LARGE Gene

miRTarBase miRNAs that target LARGE

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for LARGE Gene

Localization for LARGE Gene

Subcellular locations from UniProtKB/Swiss-Prot for LARGE Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LARGE Gene COMPARTMENTS Subcellular localization image for LARGE gene
Compartment Confidence
golgi apparatus 5
extracellular 2
plasma membrane 2
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
nucleus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for LARGE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
genes like me logo Genes that share ontologies with LARGE: view

Pathways & Interactions for LARGE Gene

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

Pathways by source for LARGE Gene

UniProtKB/Swiss-Prot O95461-LARGE_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for LARGE Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000347088%0d%0a9606.ENSP00000309096%0d%0a
Selected Interacting proteins: ENSP00000347088 O95461-LARGE_HUMAN for LARGE Gene via STRING I2D

Gene Ontology (GO) - Biological Process for LARGE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation TAS 9892679
GO:0006493 protein O-linked glycosylation TAS --
GO:0008152 metabolic process IEA --
GO:0035269 protein O-linked mannosylation IDA 22223806
genes like me logo Genes that share ontologies with LARGE: view

No data available for SIGNOR curated interactions for LARGE Gene

Drugs & Compounds for LARGE Gene

No Compound Related Data Available

Transcripts for LARGE Gene

Unigene Clusters for LARGE Gene

Like-glycosyltransferase:
Representative Sequences:

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d · 8e ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: - - - - -
SP2: - - - - - - -
SP3: - - -
SP4: - - - - - -
SP5:
SP6: - - - -
SP7:

Relevant External Links for LARGE Gene

GeneLoc Exon Structure for
LARGE
ECgene alternative splicing isoforms for
LARGE

Expression for LARGE Gene

mRNA expression in normal human tissues for LARGE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LARGE Gene

This gene is overexpressed in Heart - Left Ventricle (x5.1).

Protein differential expression in normal tissues from HIPED for LARGE Gene

This gene is overexpressed in Breast (64.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LARGE Gene



SOURCE GeneReport for Unigene cluster for LARGE Gene Hs.474667

mRNA Expression by UniProt/SwissProt for LARGE Gene

O95461-LARGE_HUMAN
Tissue specificity: Ubiquitous. Highest expression in heart, brain and skeletal muscle.
genes like me logo Genes that share expression patterns with LARGE: view

Protein tissue co-expression partners for LARGE Gene

Primer Products

Orthologs for LARGE Gene

This gene was present in the common ancestor of animals.

Orthologs for LARGE Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LARGE 35
  • 91.62 (n)
  • 97.75 (a)
LARGE 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LARGE 35
  • 91.23 (n)
  • 97.09 (a)
LARGE 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Large 35
  • 88.8 (n)
  • 97.75 (a)
Large 16
Large 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LARGE 35
  • 99.69 (n)
  • 100 (a)
LARGE 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LARGE 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 94 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
chicken
(Gallus gallus)
Aves LARGE 35
  • 83.99 (n)
  • 95.9 (a)
LARGE 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LARGE 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498555 35
  • 83.61 (n)
  • 94.31 (a)
Str.6025 35
African clawed frog
(Xenopus laevis)
Amphibia MGC68636 35
zebrafish
(Danio rerio)
Actinopterygii large 35
  • 77.07 (n)
  • 85.47 (a)
large 36
  • 85 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K09C8.4 37
  • 33 (a)
lge-1 36
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
ManyToMany
Species with no ortholog for LARGE:
  • 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 LARGE Gene

ENSEMBL:
Gene Tree for LARGE (if available)
TreeFam:
Gene Tree for LARGE (if available)

Paralogs for LARGE Gene

Paralogs for LARGE Gene

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

Variants for LARGE Gene

Sequence variations from dbSNP and Humsavar for LARGE Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs470035 - 33,650,573(+) CATGC(C/G)CACCT reference, missense
rs135311 - 33,650,572(+) GCATG(C/G)GCACC reference, missense
rs1046166 - 33,277,139(-) GAGAC(A/G)TGACT reference, missense
VAR_019811 Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 (MDDGB6)
VAR_065064 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6)

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

Variant ID Type Subtype PubMed ID
nsv3602 CNV Insertion 18451855
nsv3603 CNV Insertion 18451855
esv2674473 CNV Deletion 23128226
esv27917 CNV Loss 19812545
nsv521249 CNV Loss 19592680
esv2724156 CNV Deletion 23290073
esv2344186 CNV Deletion 18987734
nsv191505 CNV Loss 16902084
nsv459876 CNV Loss 19166990
esv2724157 CNV Deletion 23290073
esv5012 CNV Deletion 18987735
esv994298 CNV Deletion 20482838
esv32905 CNV Gain 17666407
esv1661802 CNV Deletion 17803354
esv2672479 CNV Deletion 23128226
esv2724158 CNV Deletion 23290073
esv2656562 CNV Deletion 23128226
esv2724159 CNV Deletion 23290073
esv28179 CNV Loss 19812545
nsv829177 CNV Loss 20364138
esv32847 CNV Loss 17666407
nsv526030 CNV Gain 19592680
esv2678421 CNV Deletion 23128226
esv2724160 CNV Deletion 23290073
esv25278 CNV Gain 19812545
nsv820903 CNV Deletion 20802225
dgv762n67 CNV Gain 20364138
esv2724161 CNV Deletion 23290073
nsv820301 CNV Gain 19587683
esv2678147 CNV Deletion 23128226
esv2675700 CNV Deletion 23128226
nsv914983 CNV Loss 21882294
nsv914984 CNV Loss 21882294
esv2751963 CNV Gain 17911159
nsv914985 CNV Gain 21882294
nsv914986 CNV Gain 21882294
dgv1398e1 CNV Complex 17122850
nsv829180 CNV Loss 20364138
nsv914987 CNV Loss 21882294
esv259415 OTHER Complex 20981092
esv260013 OTHER Complex 20981092
esv1002745 CNV Insertion 20482838
esv5940 CNV Gain 19470904
nsv191468 CNV Insertion 16902084
nsv914988 CNV Gain 21882294
nsv3604 CNV Insertion 18451855
nsv914989 CNV Gain 21882294
esv2724163 CNV Deletion 23290073
esv2121214 CNV Deletion 18987734
esv2724164 CNV Deletion 23290073
esv1173419 CNV Deletion 17803354
esv2724165 CNV Deletion 23290073
esv2724166 CNV Deletion 23290073
esv4442 CNV Deletion 18987735
esv2659175 CNV Deletion 23128226
nsv914990 CNV Gain 21882294
nsv519677 CNV Loss 19592680
dgv4957n71 CNV Gain 21882294
nsv459878 CNV Loss 19166990
nsv524432 CNV Loss 19592680
nsv522709 CNV Gain 19592680
nsv524156 CNV Loss 19592680
dgv1399e1 CNV Complex 17122850
esv2724167 CNV Deletion 23290073
esv2724168 CNV Deletion 23290073
nsv526550 CNV Loss 19592680
esv2675236 CNV Deletion 23128226
esv2724169 CNV Deletion 23290073

Variation tolerance for LARGE 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 LARGE Gene

Human Gene Mutation Database (HGMD)
LARGE

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

Disorders for LARGE Gene

MalaCards: The human disease database

(14) MalaCards diseases for LARGE Gene - From: 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
  • congenital muscular dystrophy type 1d
walker-warburg syndrome
  • cerebroocular dysplasia-muscular dystrophy syndrome
muscle eye brain disease
  • meb
congenital muscular dystrophy with intellectual disability
  • cmd with intellectual disability
- elite association - COSMIC cancer census association via MalaCards
Search LARGE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LARGE_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 LARGE

Genetic Association Database (GAD)
LARGE
Human Genome Epidemiology (HuGE) Navigator
LARGE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LARGE
genes like me logo Genes that share disorders with LARGE: view

No data available for Genatlas for LARGE Gene

Publications for LARGE Gene

  1. The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family. (PMID: 9892679) Peyrard M. … Dumanski J.P. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 23 67
  2. 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. (Hum. Mol. Genet. 2003) 2 3 23
  3. Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE. (PMID: 22223806) Inamori K. … Campbell K.P. (Science 2012) 2 3
  4. Loss of alpha-dystroglycan laminin binding in epithelium-derived cancers is caused by silencing of LARGE. (PMID: 19244252) de BernabAc D.B. … Campbell K.P. (J. Biol. Chem. 2009) 3 23
  5. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PMID: 19299310) Mercuri E. … Bertini E. (Neurology 2009) 3 23

Products for LARGE Gene

Sources for LARGE Gene

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