Aliases for GLT1D1 Gene

Aliases for GLT1D1 Gene

  • Glycosyltransferase 1 Domain Containing 1 2 3 5
  • Glycosyltransferase 1 Domain-Containing Protein 1 3 4
  • EC 2.4.-.- 4

External Ids for GLT1D1 Gene

Previous GeneCards Identifiers for GLT1D1 Gene

  • GC12P127863
  • GC12P129337
  • GC12P126322

Summaries for GLT1D1 Gene

GeneCards Summary for GLT1D1 Gene

GLT1D1 (Glycosyltransferase 1 Domain Containing 1) is a Protein Coding gene. Diseases associated with GLT1D1 include Hepatocellular Carcinoma. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups. An important paralog of this gene is ALG2.

Additional gene information for GLT1D1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GLT1D1 Gene

Genomics for GLT1D1 Gene

GeneHancer (GH) Regulatory Elements for GLT1D1 Gene

Promoters and enhancers for GLT1D1 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
GH12J128853 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 520.9 +0.5 474 1.8 HDAC2 CTCF PHF8 MEF2B NBN SMARCA5 EBF1 IKZF1 PAX5 HDGF GLT1D1 LOC100128276 piR-38051-081
GH12J128808 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 71.3 -36.3 -36346 16.4 ZBTB40 CTCF SIN3A TCF12 USF1 POLR2G SP1 PHF8 ZFX ZNF10 SLC15A4 GLT1D1 ENSG00000279500 piR-32249 lnc-TMEM132D-4 lnc-TMEM132D-5
GH12J128855 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 78.5 +3.4 3418 2.1 MEF2C BCL11A MEF2B SPI1 SMARCA5 WRNIP1 BATF EBF1 POLR2A NR2F1 GLT1D1 SLC15A4 piR-38051-081
GH12J128828 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 44.3 -23.1 -23076 2.7 ZBTB40 SP1 EP300 JUND RELA MEF2C RCOR1 TRIM22 NFYB BCL11A GLT1D1 SLC15A4 ENSG00000274695 piR-60678
GH12J128790 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 24.8 -58.2 -58167 8.8 ZBTB40 TEAD4 CTCF EP300 ZIC2 ZNF423 CUX1 POLR2A RBM25 BCL11A GLT1D1 SLC15A4 lnc-TMEM132D-5 ENSG00000279500 lnc-SLC15A4-16
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLT1D1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLT1D1

Top Transcription factor binding sites by QIAGEN in the GLT1D1 gene promoter:
  • AREB6

Genomic Locations for GLT1D1 Gene

Genomic Locations for GLT1D1 Gene
chr12:128,853,427-128,984,968
(GRCh38/hg38)
Size:
131,542 bases
Orientation:
Plus strand
chr12:129,337,972-129,469,509
(GRCh37/hg19)
Size:
131,538 bases
Orientation:
Plus strand

Genomic View for GLT1D1 Gene

Genes around GLT1D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLT1D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLT1D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLT1D1 Gene

Proteins for GLT1D1 Gene

  • Protein details for GLT1D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MS3-GL1D1_HUMAN
    Recommended name:
    Glycosyltransferase 1 domain-containing protein 1
    Protein Accession:
    Q96MS3
    Secondary Accessions:
    • Q86XG8

    Protein attributes for GLT1D1 Gene

    Size:
    346 amino acids
    Molecular mass:
    38507 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GLT1D1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLT1D1 Gene

Post-translational modifications for GLT1D1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for GLT1D1 Gene

Domains & Families for GLT1D1 Gene

Gene Families for GLT1D1 Gene

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

Protein Domains for GLT1D1 Gene

Blocks:
  • Glycosyl transferase, group 1
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GLT1D1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51476 (B4DHZ5_HUMAN)
  • Glycosyltransferase 1 domain-containing protein 1 (GL1D1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96MS3

UniProtKB/Swiss-Prot:

GL1D1_HUMAN :
  • Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.
Family:
  • Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.
genes like me logo Genes that share domains with GLT1D1: view

Function for GLT1D1 Gene

Enzyme Numbers (IUBMB) for GLT1D1 Gene

Phenotypes From GWAS Catalog for GLT1D1 Gene

Gene Ontology (GO) - Molecular Function for GLT1D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with GLT1D1: view
genes like me logo Genes that share phenotypes with GLT1D1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GLT1D1

Clone Products

No data available for Molecular function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GLT1D1 Gene

Localization for GLT1D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLT1D1 Gene

Secreted.

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 GLT1D1 gene
Compartment Confidence
cytosol 4
extracellular 3
mitochondrion 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GLT1D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with GLT1D1: view

Pathways & Interactions for GLT1D1 Gene

PathCards logo

SuperPathways for GLT1D1 Gene

No Data Available

Interacting Proteins for GLT1D1 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000281703 Q96MS3-GL1D1_HUMAN for GLT1D1 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for GLT1D1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for GLT1D1 Gene

Drugs & Compounds for GLT1D1 Gene

No Compound Related Data Available

Transcripts for GLT1D1 Gene

mRNA/cDNA for GLT1D1 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLT1D1 Gene

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

Relevant External Links for GLT1D1 Gene

GeneLoc Exon Structure for
GLT1D1

Expression for GLT1D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GLT1D1 Gene

mRNA differential expression in normal tissues according to GTEx for GLT1D1 Gene

This gene is overexpressed in Whole Blood (x26.7).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GLT1D1

SOURCE GeneReport for Unigene cluster for GLT1D1 Gene:

Hs.655668

Evidence on tissue expression from TISSUES for GLT1D1 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with GLT1D1: 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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GLT1D1 Gene

Orthologs for GLT1D1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GLT1D1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLT1D1 31 30
  • 99.12 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GLT1D1 31 30
  • 83.96 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GLT1D1 31 30
  • 82.33 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Glt1d1 30
  • 80.7 (n)
mouse
(Mus musculus)
Mammalia Glt1d1 17 31 30
  • 80.58 (n)
oppossum
(Monodelphis domestica)
Mammalia GLT1D1 31
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLT1D1 31
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLT1D1 31 30
  • 66.81 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLT1D1 31
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glt1d1 30
  • 64.36 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101884717 30
  • 60.32 (n)
GLT1D1 31
  • 42 (a)
OneToOne
Dr.14935 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 24 (a)
OneToOne
Species where no ortholog for GLT1D1 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GLT1D1 Gene

ENSEMBL:
Gene Tree for GLT1D1 (if available)
TreeFam:
Gene Tree for GLT1D1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GLT1D1: view image

Paralogs for GLT1D1 Gene

Paralogs for GLT1D1 Gene

genes like me logo Genes that share paralogs with GLT1D1: view

Variants for GLT1D1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GLT1D1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
714575 Benign: not provided 128,982,985(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GLT1D1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GLT1D1 Gene

Variant ID Type Subtype PubMed ID
esv2204782 CNV deletion 18987734
esv23767 CNV loss 19812545
esv2667523 CNV deletion 23128226
esv2678080 CNV deletion 23128226
esv2746675 CNV deletion 23290073
esv2746676 CNV deletion 23290073
esv2759920 CNV loss 17122850
esv3549997 CNV deletion 23714750
esv3580535 CNV loss 25503493
esv3580536 CNV loss 25503493
esv3581993 CNV gain 25503493
esv3631151 CNV gain 21293372
esv3631153 CNV gain 21293372
esv3631154 CNV loss 21293372
esv3631155 CNV loss 21293372
esv3631156 CNV gain 21293372
esv3631157 CNV loss 21293372
nsv1040831 CNV gain 25217958
nsv1051433 CNV gain 25217958
nsv1069713 CNV deletion 25765185
nsv1070145 CNV deletion 25765185
nsv1118253 CNV deletion 24896259
nsv1134276 CNV deletion 24896259
nsv516077 CNV loss 19592680
nsv521048 CNV loss 19592680
nsv526688 CNV gain 19592680
nsv560689 CNV gain 21841781
nsv560690 CNV loss 21841781
nsv818936 CNV loss 17921354
nsv826543 CNV loss 20364138
nsv832549 CNV loss 17160897
nsv929 CNV insertion 18451855
nsv952505 CNV deletion 24416366
nsv973134 CNV duplication 23825009

Variation tolerance for GLT1D1 Gene

Residual Variation Intolerance Score: 60.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.86; 48.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GLT1D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLT1D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLT1D1 Gene

Disorders for GLT1D1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GLT1D1 Gene - From: LncRNADisease

Disorder Aliases PubMed IDs
hepatocellular carcinoma
  • hcc
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GLT1D1

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 GLT1D1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GLT1D1 Gene

Publications for GLT1D1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. Genetic variants in systemic lupus erythematosus susceptibility loci, XKR6 and GLT1D1 are associated with childhood-onset SLE in a Korean cohort. (PMID: 29967481) Joo YB … Bae SC (Scientific reports 2018) 3 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study. (PMID: 22044751) Foster MC … Fox CS (BMC medical genetics 2011) 3 54

Products for GLT1D1 Gene

Sources for GLT1D1 Gene