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Aliases for GLT6D1 Gene

Aliases for GLT6D1 Gene

  • Glycosyltransferase 6 Domain Containing 1 2 3 5
  • Galactosyltransferase Family 6 Domain Containing 1 2 3
  • GLTDC1 3 4
  • GT6M7 3 4
  • Galactosyltransferase Family 6 Domain-Containing 1 4
  • Glycosyltransferase 6 Domain-Containing Protein 1 3
  • EC 2.4.1.87 56
  • EC 2.4.1.- 4
  • EC 2.4.1 56

External Ids for GLT6D1 Gene

Previous HGNC Symbols for GLT6D1 Gene

  • GLTDC1

Previous GeneCards Identifiers for GLT6D1 Gene

  • GC09M135741
  • GC09M137655
  • GC09M138515
  • GC09M107977

Summaries for GLT6D1 Gene

Entrez Gene Summary for GLT6D1 Gene

  • The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011]

GeneCards Summary for GLT6D1 Gene

GLT6D1 (Glycosyltransferase 6 Domain Containing 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring hexosyl groups. An important paralog of this gene is A3GALT2.

Additional gene information for GLT6D1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLT6D1 Gene

Genomics for GLT6D1 Gene

GeneHancer (GH) Regulatory Elements for GLT6D1 Gene

Promoters and enhancers for GLT6D1 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
GH09I135671 Enhancer 0.4 ENCODE 12.7 -30.7 -30654 0.2 CTCF ZNF143 CTBP2 GLT6D1 LCN9 LOC105376318
GH09I135662 Enhancer 0.2 ENCODE 17.9 -21.6 -21551 0.9 LCN9 GLT6D1
GH09I135661 Enhancer 0.2 ENCODE 12.6 -20.9 -20854 0.2 LCN9 GLT6D1
GH09I135663 Promoter 0.5 EPDnew 4.9 -22.1 -22074 0.1 LCN9 GLT6D1
GH09I135916 Enhancer 0.2 FANTOM5 1.3 -275.0 -275004 0.1 GLT6D1 ENSG00000238058 PIR47641
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GLT6D1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GLT6D1 gene promoter:

Genomic Locations for GLT6D1 Gene

Genomic Locations for GLT6D1 Gene
chr9:135,623,656-135,641,216
(GRCh38/hg38)
Size:
17,561 bases
Orientation:
Minus strand
chr9:138,515,502-138,531,386
(GRCh37/hg19)

Genomic View for GLT6D1 Gene

Genes around GLT6D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLT6D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLT6D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLT6D1 Gene

Proteins for GLT6D1 Gene

  • Protein details for GLT6D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z4J2-GL6D1_HUMAN
    Recommended name:
    Glycosyltransferase 6 domain-containing protein 1
    Protein Accession:
    Q7Z4J2

    Protein attributes for GLT6D1 Gene

    Size:
    308 amino acids
    Molecular mass:
    36274 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

neXtProt entry for GLT6D1 Gene

Selected DME Specific Peptides for GLT6D1 Gene

Q7Z4J2:
  • EVDFLFSM
  • VIFYIMV
  • NITVGLAVFA
  • FGVETLG

Post-translational modifications for GLT6D1 Gene

  • Glycosylation at isoforms=74
  • Modification sites at PhosphoSitePlus

Other Protein References for GLT6D1 Gene

Domains & Families for GLT6D1 Gene

Gene Families for GLT6D1 Gene

Protein Domains for GLT6D1 Gene

Suggested Antigen Peptide Sequences for GLT6D1 Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z4J2

UniProtKB/Swiss-Prot:

GL6D1_HUMAN :
  • Belongs to the glycosyltransferase 6 family.
Family:
  • Belongs to the glycosyltransferase 6 family.
genes like me logo Genes that share domains with GLT6D1: view

Function for GLT6D1 Gene

Enzyme Numbers (IUBMB) for GLT6D1 Gene

Phenotypes From GWAS Catalog for GLT6D1 Gene

Gene Ontology (GO) - Molecular Function for GLT6D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IBA --
GO:0016758 transferase activity, transferring hexosyl groups IEA --
genes like me logo Genes that share ontologies with GLT6D1: view

Phenotypes for GLT6D1 Gene

genes like me logo Genes that share phenotypes with GLT6D1: view

Animal Model Products

Clone Products

No data available for Molecular function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GLT6D1 Gene

Localization for GLT6D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLT6D1 Gene

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 GLT6D1 gene
Compartment Confidence
golgi apparatus 5
extracellular 2
plasma membrane 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GLT6D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031982 vesicle IBA --
genes like me logo Genes that share ontologies with GLT6D1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GLT6D1 Gene

Pathways & Interactions for GLT6D1 Gene

SuperPathways for GLT6D1 Gene

No Data Available

Interacting Proteins for GLT6D1 Gene

Selected Interacting proteins: Q7Z4J2-GL6D1_HUMAN for GLT6D1 Gene via IID

Symbol External ID(s) Details
SLC2A4

Gene Ontology (GO) - Biological Process for GLT6D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0009247 glycolipid biosynthetic process IBA --
GO:0030259 lipid glycosylation IBA --
genes like me logo Genes that share ontologies with GLT6D1: view

No data available for Pathways by source and SIGNOR curated interactions for GLT6D1 Gene

Drugs & Compounds for GLT6D1 Gene

(5) Drugs for GLT6D1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
lactose Approved, Investigational Pharma Target 0
Beta-D-Glucose Experimental Pharma Target 0
Uridine diphosphate glucose Experimental Pharma Target 0
Uridine monophosphate Experimental Pharma Target 0
Uridine-5'-Diphosphate Experimental Pharma Target 0
genes like me logo Genes that share compounds with GLT6D1: view

Transcripts for GLT6D1 Gene

mRNA/cDNA for GLT6D1 Gene

(7) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GLT6D1 Gene

Glycosyltransferase 6 domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLT6D1 Gene

No ASD Table

Relevant External Links for GLT6D1 Gene

GeneLoc Exon Structure for
GLT6D1
ECgene alternative splicing isoforms for
GLT6D1

Expression for GLT6D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GLT6D1 Gene

mRNA differential expression in normal tissues according to GTEx for GLT6D1 Gene

This gene is overexpressed in Testis (x47.4).

NURSA nuclear receptor signaling pathways regulating expression of GLT6D1 Gene:

GLT6D1

SOURCE GeneReport for Unigene cluster for GLT6D1 Gene:

Hs.522491

mRNA Expression by UniProt/SwissProt for GLT6D1 Gene:

Q7Z4J2-GL6D1_HUMAN
Tissue specificity: Expressed in both healthy and inflamed gingival tissue samples at similar levels, with higher expression in the gingival connective tissue compared to gingival epithelium. Strongest expression in testis, followed by leukocytes.
genes like me logo Genes that share expression patterns with GLT6D1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GLT6D1 Gene

Orthologs for GLT6D1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for GLT6D1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLT6D1 33 34
  • 97.63 (n)
dog
(Canis familiaris)
Mammalia GLT6D1 33 34
  • 74.24 (n)
cow
(Bos Taurus)
Mammalia GLT6D1 33 34
  • 71.88 (n)
mouse
(Mus musculus)
Mammalia Glt6d1 33 16 34
  • 69.93 (n)
rat
(Rattus norvegicus)
Mammalia Glt6d1 33
  • 69.49 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 36 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 26 (a)
ManyToMany
Species where no ortholog for GLT6D1 was found in the sources mined by GeneCards:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GLT6D1 Gene

ENSEMBL:
Gene Tree for GLT6D1 (if available)
TreeFam:
Gene Tree for GLT6D1 (if available)

Paralogs for GLT6D1 Gene

Paralogs for GLT6D1 Gene

(4) SIMAP similar genes for GLT6D1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for GLT6D1 Gene

genes like me logo Genes that share paralogs with GLT6D1: view

Variants for GLT6D1 Gene

Sequence variations from dbSNP and Humsavar for GLT6D1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000028881 -- 135,641,631(-) A/T upstream_transcript_variant
rs1000039498 -- 135,640,940(-) G/A/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000061518 -- 135,641,931(-) TGTGT/TGT upstream_transcript_variant
rs1000283029 -- 135,623,902(-) A/C 3_prime_UTR_variant
rs1000301784 -- 135,625,149(-) GGG/GG coding_sequence_variant, frameshift, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GLT6D1 Gene

Variant ID Type Subtype PubMed ID
nsv522861 CNV loss 19592680

Variation tolerance for GLT6D1 Gene

Residual Variation Intolerance Score: 93.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.80; 91.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GLT6D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLT6D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLT6D1 Gene

Disorders for GLT6D1 Gene

Additional Disease Information for GLT6D1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for GLT6D1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GLT6D1 Gene

Publications for GLT6D1 Gene

  1. A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitis. (PMID: 19897590) Schaefer AS … Schreiber S (Human molecular genetics 2010) 3 4 44 58
  2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  3. Human pseudogenes of the ABO family show a complex evolutionary dynamics and loss of function. (PMID: 19218399) Casals F … Blancher A (Glycobiology 2009) 3 4 58
  4. Replication of the association of GLT6D1 with aggressive periodontitis in a Sudanese population. (PMID: 25682733) Hashim NT … El Karim IA (Journal of clinical periodontology 2015) 3 58
  5. Long-term evolution of the CAZY glycosyltransferase 6 (ABO) gene family from fishes to mammals--a birth-and-death evolution model. (PMID: 17298992) Turcot-Dubois AL … Blancher A (Glycobiology 2007) 3 58

Products for GLT6D1 Gene

Sources for GLT6D1 Gene

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