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Aliases for GYLTL1B Gene

Aliases for GYLTL1B Gene

  • Glycosyltransferase-Like 1B 2 3 4
  • LARGE2 3 4 6
  • Ortholog Of Mouse Glycosyltransferase-Like 1B 3
  • Glycosyltransferase-Like Protein LARGE2 3
  • Like-Glycosyltransferase 2 3
  • EC 2.4.-.- 4
  • PP5656 3

External Ids for GYLTL1B Gene

Previous GeneCards Identifiers for GYLTL1B Gene

  • GC11P045974
  • GC11P045907
  • GC11P045899
  • GC11P045650

Summaries for GYLTL1B Gene

GeneCards Summary for GYLTL1B Gene

GYLTL1B (Glycosyltransferase-Like 1B) is a Protein Coding gene. Diseases associated with GYLTL1B include dyscalculia and ureteral benign neoplasm. GO annotations related to this gene include transferase activity, transferring glycosyl groups. An important paralog of this gene is LARGE.

UniProtKB/Swiss-Prot for GYLTL1B 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). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide. Has a higher activity toward alpha-dystroglycan than LARGE.

Gene Wiki entry for GYLTL1B Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GYLTL1B Gene

Genomics for GYLTL1B Gene

Regulatory Elements for GYLTL1B Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GYLTL1B Gene

Start:
45,921,621 bp from pter
End:
45,929,096 bp from pter
Size:
7,476 bases
Orientation:
Plus strand

Genomic View for GYLTL1B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GYLTL1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GYLTL1B Gene

Proteins for GYLTL1B Gene

  • Protein details for GYLTL1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N3Y3-LARG2_HUMAN
    Recommended name:
    Glycosyltransferase-like protein LARGE2
    Protein Accession:
    Q8N3Y3
    Secondary Accessions:
    • A6NN75
    • Q8N8Y6
    • Q8NAK3
    • Q8WY62

    Protein attributes for GYLTL1B Gene

    Size:
    721 amino acids
    Molecular mass:
    81787 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Note=Binds 2 Mn(2+) ions per subunit. The xylosyltransferase part binds one Mn(2+) and the beta-1,3-glucuronyltransferase part binds one Mn(2+).;
    Quaternary structure:
    • Interacts with B3GNT1/B4GAT1.
    SequenceCaution:
    • Sequence=AAG23791.1; Type=Frameshift; Positions=496, 510, 674; Evidence={ECO:0000305}; Sequence=BAC03909.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

neXtProt entry for GYLTL1B Gene

Proteomics data for GYLTL1B Gene at MOPED

Post-translational modifications for GYLTL1B Gene

  • Glycosylation at Asn80, Asn107, and Asn231
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GYLTL1B Gene

Domains for GYLTL1B Gene

Gene Families for GYLTL1B Gene

HGNC:
  • GLT8 :Glycosyltransferase family 8 domain containing

Protein Domains for GYLTL1B Gene

Suggested Antigen Peptide Sequences for GYLTL1B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N3Y3

UniProtKB/Swiss-Prot:

LARG2_HUMAN :
  • Q8N3Y3
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 GYLTL1B: view

Function for GYLTL1B Gene

Molecular function for GYLTL1B 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). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide. Has a higher activity toward alpha-dystroglycan than LARGE.

Enzyme Numbers (IUBMB) for GYLTL1B Gene

Gene Ontology (GO) - Molecular Function for GYLTL1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015020 glucuronosyltransferase activity ISS --
GO:0016757 transferase activity, transferring glycosyl groups --
GO:0030145 manganese ion binding TAS 25138275
GO:0042285 xylosyltransferase activity ISS --
genes like me logo Genes that share ontologies with GYLTL1B: view

Animal Model Products

CRISPR Products

miRNA for GYLTL1B Gene

miRTarBase miRNAs that target GYLTL1B

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for GYLTL1B Gene

Localization for GYLTL1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for GYLTL1B Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GYLTL1B Gene COMPARTMENTS Subcellular localization image for GYLTL1B gene
Compartment Confidence
golgi apparatus 5
extracellular 2
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GYLTL1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005794 Golgi apparatus --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GYLTL1B: view

Pathways for GYLTL1B Gene

SuperPathways for GYLTL1B Gene

No Data Available

UniProtKB/Swiss-Prot Q8N3Y3-LARG2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for GYLTL1B 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.ENSP00000324570%0d%0a9606.ENSP00000309096%0d%0a
Selected Interacting proteins: ENSP00000324570 for GYLTL1B Gene via STRING

Symbol External ID(s) Details
B4GAT1

Gene Ontology (GO) - Biological Process for GYLTL1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process --
GO:0035269 protein O-linked mannosylation IDA 25138275
GO:0046716 muscle cell cellular homeostasis ISS --
genes like me logo Genes that share ontologies with GYLTL1B: view

No data available for Pathways by source for GYLTL1B Gene

Transcripts for GYLTL1B Gene

Unigene Clusters for GYLTL1B Gene

Glycosyltransferase-like 1B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GYLTL1B

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GYLTL1B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13
SP1: - -
SP2: -
SP3: -
SP4: -

Relevant External Links for GYLTL1B Gene

GeneLoc Exon Structure for
GYLTL1B
ECgene alternative splicing isoforms for
GYLTL1B

Expression for GYLTL1B Gene

mRNA expression in normal human tissues for GYLTL1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GYLTL1B Gene

This gene is overexpressed in Pancreas (5.4), Esophagus - Mucosa (4.8), Skin - Not Sun Exposed (Suprapubic) (4.7), Kidney - Cortex (4.5), and Skin - Sun Exposed (Lower leg) (4.1).

Protein differential expression in normal tissues for GYLTL1B Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GYLTL1B Gene

SOURCE GeneReport for Unigene cluster for GYLTL1B Gene Hs.86543

mRNA Expression by UniProt/SwissProt for GYLTL1B Gene

Q8N3Y3-LARG2_HUMAN
Tissue specificity: Widely expressed. Expressed at high level in placenta, pancreas and kidney compared to LARGE. Not expressed in brain.
genes like me logo Genes that share expressions with GYLTL1B: view

Expression partners for GYLTL1B Gene

In Situ Assay Products

Orthologs for GYLTL1B Gene

This gene was present in the common ancestor of animals.

Orthologs for GYLTL1B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GYLTL1B 35
  • 87.95 (n)
  • 88.89 (a)
GYLTL1B 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GYLTL1B 35
  • 86.59 (n)
  • 86.06 (a)
GYLTL1B 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gyltl1b 35
  • 83.31 (n)
  • 84.67 (a)
Gyltl1b 16
Gyltl1b 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GYLTL1B 35
  • 99.05 (n)
  • 98.99 (a)
rat
(Rattus norvegicus)
Mammalia Gyltl1b 35
  • 84.32 (n)
  • 85.28 (a)
oppossum
(Monodelphis domestica)
Mammalia GYLTL1B 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 83 (a)
OneToMany
-- 36
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves GYLTL1B 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GYLTL1B 36
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii gyltl1b 36
  • 62 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lge-1 36
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
ManyToMany
Species with no ortholog for GYLTL1B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GYLTL1B Gene

ENSEMBL:
Gene Tree for GYLTL1B (if available)
TreeFam:
Gene Tree for GYLTL1B (if available)

Paralogs for GYLTL1B Gene

Paralogs for GYLTL1B Gene

Selected SIMAP similar genes for GYLTL1B Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with GYLTL1B: view

Variants for GYLTL1B Gene

Sequence variations from dbSNP and Humsavar for GYLTL1B Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs884668 -- 45,927,650(-) CCCAC(A/G)CATGC intron-variant
rs939105 -- 45,927,983(+) GCATT(C/T)GAGAC reference, synonymous-codon, missense, downstream-variant-500B
rs2271851 - 45,928,708(+) GCTTC(C/T)GCTCC reference, missense, synonymous-codon
rs3802757 -- 45,926,812(-) GGTTC(A/T)TGGGG missense, reference
rs4756041 -- 45,925,586(+) aggaa(A/G)cagag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GYLTL1B Gene

Variant ID Type Subtype PubMed ID
nsv897314 CNV Loss 21882294
nsv516442 CNV Loss 19592680

Relevant External Links for GYLTL1B Gene

HapMap Linkage Disequilibrium report
GYLTL1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GYLTL1B Gene

Disorders for GYLTL1B Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for GYLTL1B Gene in MalaCards »

(2) Diseases for GYLTL1B Gene including...

(3) University of Copenhagen DISEASES for GYLTL1B Gene

Relevant External Links for GYLTL1B

Genetic Association Database (GAD)
GYLTL1B
Human Genome Epidemiology (HuGE) Navigator
GYLTL1B
genes like me logo Genes that share disorders with GYLTL1B: view

No data available for OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships and Genatlas for GYLTL1B Gene

Publications for GYLTL1B Gene

  1. Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. (PMID: 15661757) Brockington M. … Muntoni F. (Hum. Mol. Genet. 2005) 2 3 4 23
  2. Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies. (PMID: 15958417) Grewal P.K. … Hewitt J.E. (Glycobiology 2005) 2 3 4 23
  3. Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of alpha-dystroglycan in cells and tissues. (PMID: 25138275) Inamori K. … Campbell K.P. (J. Biol. Chem. 2014) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for GYLTL1B Gene

Sources for GYLTL1B Gene

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