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Aliases for GYLTL1B Gene

Aliases for GYLTL1B Gene

  • Glycosyltransferase-Like 1B 2 3 4 5
  • LARGE2 3 4
  • Ortholog Of Mouse Glycosyltransferase-Like 1B 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 Interstitial Myocarditis and Ureteral Benign Neoplasm. 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 glucuronosyltransferase activity. An important paralog of this gene is B4GAT1.

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

Enhancers for GYLTL1B 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 GYLTL1B on UCSC Golden Path with GeneCards custom track

Promoters for GYLTL1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GYLTL1B on UCSC Golden Path with GeneCards custom track

Genomic Location for GYLTL1B Gene

Chromosome:
11
Start:
45,920,974 bp from pter
End:
45,929,096 bp from pter
Size:
8,123 bases
Orientation:
Plus strand

Genomic View for GYLTL1B Gene

Genes around GYLTL1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GYLTL1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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 Asn 80, Asn 107, and Asn 231
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GYLTL1B Gene

Domains & Families for GYLTL1B Gene

Gene Families for GYLTL1B Gene

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 :
  • 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 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:0030145 manganese ion binding TAS 25138275
GO:0035252 UDP-xylosyltransferase activity TAS --
genes like me logo Genes that share ontologies with GYLTL1B: view

Phenotypes for GYLTL1B Gene

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

Animal Model Products

CRISPR Products

miRNA for GYLTL1B Gene

miRTarBase miRNAs that target GYLTL1B

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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 4
extracellular 2
endoplasmic reticulum 1
lysosome 1
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for GYLTL1B Gene

Pathways & Interactions for GYLTL1B Gene

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

Pathways by source for GYLTL1B Gene

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:0006493 protein O-linked glycosylation TAS --
genes like me logo Genes that share ontologies with GYLTL1B: view

No data available for SIGNOR curated interactions for GYLTL1B Gene

Drugs & Compounds for GYLTL1B Gene

No Compound Related Data Available

Transcripts for GYLTL1B Gene

Unigene Clusters for GYLTL1B Gene

Glycosyltransferase-like 1B:
Representative Sequences:

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 (x5.4), Esophagus - Mucosa (x4.8), Skin - Not Sun Exposed (Suprapubic) (x4.7), Kidney - Cortex (x4.5), and Skin - Sun Exposed (Lower leg) (x4.1).

Protein differential expression in normal tissues from HIPED for GYLTL1B Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GYLTL1B: view

Protein tissue co-expression partners for GYLTL1B Gene

- Elite partner

Primer 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

(1) 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
rs2271851 - 45,928,708(+) GCTTC(A/C/T)GCTCC downstream-variant-500B, reference, synonymous-codon, missense, utr-variant-3-prime
rs17853729 - 45,922,991(+) GCCGC(A/G)AGCCT intron-variant, upstream-variant-2KB, reference, missense
rs11038713 - 45,927,951(+) GCAGC(C/T)GGCGC downstream-variant-500B, reference, synonymous-codon, missense
rs884668 -- 45,927,650(-) CCCAC(A/G)CATGC intron-variant
rs939105 -- 45,927,983(+) GCATT(C/T)GAGAC downstream-variant-500B, reference, synonymous-codon, missense

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

Variation tolerance for GYLTL1B Gene

Residual Variation Intolerance Score: 84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.86; 48.22% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for GYLTL1B Gene

Disorders for GYLTL1B Gene

MalaCards: The human disease database

(2) MalaCards diseases for GYLTL1B Gene - From: DISEASES

Disorder Aliases PubMed IDs
interstitial myocarditis
ureteral benign neoplasm
  • neoplasm of ureter
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for GYLTL1B

Genetic Association Database (GAD)
GYLTL1B
Human Genome Epidemiology (HuGE) Navigator
GYLTL1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GYLTL1B
genes like me logo Genes that share disorders with GYLTL1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GYLTL1B Gene

Publications for GYLTL1B Gene

  1. 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 67
  2. 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 23
  3. The glycosyltransferase LARGE2 is repressed by Snail and ZEB1 in prostate cancer. (PMID: 25455932) Huang Q. … Henry M.D. (Cancer Biol. Ther. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Downregulation of dystroglycan glycosyltransferases LARGE2 and ISPD associate with increased mortality in clear cell renal cell carcinoma. (PMID: 26220087) Miller M.R. … Henry M.D. (Mol. Cancer 2015) 3

Products for GYLTL1B Gene

Sources for GYLTL1B Gene

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