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) [PubMe... See more...

Aliases for GLT6D1 Gene

Aliases for GLT6D1 Gene

  • Glycosyltransferase 6 Domain Containing 1 2 3 5
  • Putative Glycosyltransferase 6 Domain-Containing Protein 1 3 4
  • 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 52
  • EC 2.4.1.- 4
  • EC 2.4.1 52

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. Diseases associated with GLT6D1 include Aggressive Periodontitis. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring hexosyl groups. An important paralog of this gene is GBGT1.

Additional gene information for GLT6D1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
GH09J135641 Enhancer 0.4 Ensembl 521.4 -0.8 -785 1.2 CREB1 FOS JUN ATF3 ATF1 GLT6D1 piR-49097-108 lnc-GLT6D1-2
GH09J135650 Enhancer 0.6 Ensembl 19.1 -9.5 -9485 0.2 YBX1 ZNF621 PAX8 SUZ12 ZNF658 STAT5A NFATC1 BCL3 NFIC MNT GLT6D1 piR-49097-108 MF281435-008 lnc-GLT6D1-2
GH09J135661 Enhancer 0.4 ENCODE CraniofacialAtlas 18.3 -21.1 -21061 1.8 NR3C1 LCN9 GLT6D1 MF281435-008 lnc-GLT6D1-2
GH09J135671 Enhancer 0.5 ENCODE 12.7 -30.7 -30654 0.2 CTCF TCF12 NR2F1 RAD21 ZNF143 ZNF770 lnc-LCN9-2 GLT6D1 lnc-GLT6D1-2
GH09J135644 Promoter 0.7 EPDnew 0.7 -3.8 -3776 0.1 TRIM28 ZBTB17 ZNF280A CBX5 KLF17 ZNF518A SETDB1 ZNF280D ZNF561 CBX3 LCN9 LOC102723971 PAEP PPP1R26-AS1 GLT6D1 piR-49097-108 lnc-GLT6D1-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLT6D1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLT6D1

Top Transcription factor binding sites by QIAGEN in the GLT6D1 gene promoter:
  • ATF-2
  • c-Jun
  • GCNF
  • GCNF-1
  • GCNF-2
  • PPAR-alpha

Genomic Locations for GLT6D1 Gene

Genomic Locations for GLT6D1 Gene
chr9:135,623,648-135,641,216
(GRCh38/hg38)
Size:
17,569 bases
Orientation:
Minus strand
chr9:138,515,502-138,531,386
(GRCh37/hg19)
Size:
15,885 bases
Orientation:
Minus strand

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:
    Putative glycosyltransferase 6 domain-containing protein 1
    Protein Accession:
    Q7Z4J2

    Protein attributes for GLT6D1 Gene

    Size:
    276 amino acids
    Molecular mass:
    32608 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 Asn74
  • Modification sites at PhosphoSitePlus

Domains & Families for GLT6D1 Gene

Gene Families for GLT6D1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GLT6D1 Gene

Blocks:
  • Glycosyl transferase, family 6
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GLT6D1 Gene

GenScript: Design optimal peptide antigens:
  • Galactosyltransferase family 6 domain-containing 1 (GL6D1_HUMAN)
  • Glycosyltransferase 6 domain containing 1 (Q5T6T3_HUMAN)

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 21873635
GO:0016758 transferase activity, transferring hexosyl groups IEA --
genes like me logo Genes that share ontologies with GLT6D1: view
genes like me logo Genes that share phenotypes with GLT6D1: view

Animal Model Products

CRISPR 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 4
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 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031982 vesicle IBA 21873635
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

PathCards logo

SuperPathways for GLT6D1 Gene

No Data Available

Interacting Proteins for GLT6D1 Gene

;

Gene Ontology (GO) - Biological Process for GLT6D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0030259 lipid glycosylation IBA 21873635
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, Experimental, Investigational Pharma Target 0
Beta-D-Glucose Experimental Pharma Target 0
Uridine 5'-diphosphate Experimental Pharma Target 0
Uridine diphosphate glucose Experimental Pharma Target 0
Uridine monophosphate Experimental Pharma Target 0
genes like me logo Genes that share compounds with GLT6D1: view

Transcripts for GLT6D1 Gene

mRNA/cDNA for GLT6D1 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for GLT6D1 Gene

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

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 97.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GLT6D1 31 30
  • 74.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GLT6D1 31 30
  • 71.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Glt6d1 17 31 30
  • 69.93 (n)
rat
(Rattus norvegicus)
Mammalia Glt6d1 30
  • 69.49 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 36 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GLT6D1: view image

Paralogs for GLT6D1 Gene

Paralogs for GLT6D1 Gene

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

  • GL6D1_HUMAN

Pseudogenes.org Pseudogenes for GLT6D1 Gene

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

Variants for GLT6D1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GLT6D1 Gene

GL6D1_HUMAN-Q7Z4J2
The stop codon in position 277 is polymorphic and is replaced, though at very low frequency, by a Lys codon allowing the translation of a longer protein. It is not clear if the common, shorter variant shown here is functional or not.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GLT6D1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
714152 Benign: not provided 135,639,169(-) G/A SYNONYMOUS_VARIANT
rs17040344 - p.Pro219Ser
rs35762223 - p.His195Arg

Additional dbSNP identifiers (rs#s) for GLT6D1 Gene

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

Disorders for GLT6D1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GLT6D1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
aggressive periodontitis
  • periodontitis, juvenile
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GLT6D1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GLT6D1: view

No data available for 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 41 54
  2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41 54
  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 54
  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 54
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54

Products for GLT6D1 Gene

Sources for GLT6D1 Gene