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Aliases for GTDC1 Gene

Aliases for GTDC1 Gene

  • Glycosyltransferase Like Domain Containing 1 2 3 5
  • Mannosyltransferase-Like Protein Xa 3 4
  • Mat-Xa 3 4
  • Glycosyltransferase-Like Domain-Containing Protein 1 3
  • Glycosyltransferase-Like Domain Containing 1 2
  • Mannosyltransferase Candidate 3
  • Glycosyltransferase-Like 1 3
  • Mannosyltransferase-Like 2
  • Hmat-Xa 3

External Ids for GTDC1 Gene

Previous GeneCards Identifiers for GTDC1 Gene

  • GC02M144915
  • GC02M144537
  • GC02M144419
  • GC02M144703
  • GC02M136694

Summaries for GTDC1 Gene

GeneCards Summary for GTDC1 Gene

GTDC1 (Glycosyltransferase Like Domain Containing 1) is a Protein Coding gene. Diseases associated with GTDC1 include Colon Adenocarcinoma and Mowat-Wilson Syndrome. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and transferase activity.

Additional gene information for GTDC1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTDC1 Gene

Genomics for GTDC1 Gene

GeneHancer (GH) Regulatory Elements for GTDC1 Gene

Promoters and enhancers for GTDC1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I144330 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.7 669 3.1 HDGF ARNT SIN3A DMAP1 ZNF2 POLR2B CBX5 ZNF207 ZNF143 SP3 GTDC1 GC02P144158
GH02I144211 Promoter 0.5 EPDnew 550.1 +121.0 120994 0.1 GTDC1 GC02P144158
GH02I144357 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -26.0 -26045 3 ATF1 SMAD1 ARNT IRF4 POLR2B CBX5 ATF7 FOS RUNX3 GTF2B GTDC1 ZEB2 GC02M144385
GH02I144378 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 12.1 -47.6 -47596 3.7 ZNF639 GTF2E2 CEBPG DPF2 ATF2 ZNF395 ZNF592 SMARCA4 POLR2A ZKSCAN8 GTDC1 ZEB2 ZEB2-AS1 LOC101928386 GC02M144385
GH02I144382 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.1 -50.5 -50535 0.6 BMI1 BATF IRF4 RELA POLR2B POLR2A NFATC1 ATF7 ETV6 IKZF2 GTDC1 ZEB2-AS1 ZEB2 LOC101928386 GC02M144385
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GTDC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GTDC1 gene promoter:

Genomic Locations for GTDC1 Gene

Genomic Locations for GTDC1 Gene
394,501 bases
Minus strand

Genomic View for GTDC1 Gene

Genes around GTDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTDC1 Gene

Proteins for GTDC1 Gene

  • Protein details for GTDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Glycosyltransferase-like domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • A0A087X2H5
    • A8K5P2
    • D3DP81
    • G1UFN1
    • G5EA49
    • H7BYJ5
    • Q53SM7
    • Q53TC5
    • Q6P7E7
    • Q6PJB6
    • Q6WKW6
    • Q9HAE5

    Protein attributes for GTDC1 Gene

    458 amino acids
    Molecular mass:
    52597 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAX93131.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB13904.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for GTDC1 Gene

neXtProt entry for GTDC1 Gene

Post-translational modifications for GTDC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GTDC1 Gene

Domains & Families for GTDC1 Gene

Gene Families for GTDC1 Gene

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

Protein Domains for GTDC1 Gene

Suggested Antigen Peptide Sequences for GTDC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.
  • Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.
genes like me logo Genes that share domains with GTDC1: view

Function for GTDC1 Gene

Phenotypes From GWAS Catalog for GTDC1 Gene

Gene Ontology (GO) - Molecular Function for GTDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with GTDC1: view
genes like me logo Genes that share phenotypes with GTDC1: view

Animal Model Products

CRISPR Products

miRNA for GTDC1 Gene

miRTarBase miRNAs that target GTDC1

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GTDC1 Gene

Localization for GTDC1 Gene

Subcellular locations from

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 GTDC1 gene
Compartment Confidence
cytosol 3
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GTDC1 Gene

Pathways & Interactions for GTDC1 Gene

SuperPathways for GTDC1 Gene

No Data Available

Interacting Proteins for GTDC1 Gene

Selected Interacting proteins: Q4AE62-GTDC1_HUMAN for GTDC1 Gene via IID

Gene Ontology (GO) - Biological Process for GTDC1 Gene


No data available for Pathways by source and SIGNOR curated interactions for GTDC1 Gene

Drugs & Compounds for GTDC1 Gene

No Compound Related Data Available

Transcripts for GTDC1 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GTDC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d · 15e
SP1: - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - - - -
SP6: - - - - - - -
SP7: - - - -
SP8: -

Relevant External Links for GTDC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GTDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GTDC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GTDC1 Gene

This gene is overexpressed in Platelet (52.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GTDC1 Gene

Protein tissue co-expression partners for GTDC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GTDC1 Gene:


SOURCE GeneReport for Unigene cluster for GTDC1 Gene:


mRNA Expression by UniProt/SwissProt for GTDC1 Gene:

Tissue specificity: Ubiquitous. Expressed at high levels in the lung, brain, spleen, testis, placenta. ovary, pancreas, spleen and peripheral blood leukocytes. Expressed at low level in the colon, small intestine, kidney, skeletal muscle and thymus. Expressed at high level in colon adenocarcinoma.

Evidence on tissue expression from TISSUES for GTDC1 Gene

  • Nervous system(4.4)
  • Kidney(4.2)
  • Bone(4)
genes like me logo Genes that share expression patterns with GTDC1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GTDC1 Gene

Orthologs for GTDC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GTDC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GTDC1 33 34
  • 99.56 (n)
(Bos Taurus)
Mammalia GTDC1 33 34
  • 89.89 (n)
(Canis familiaris)
Mammalia GTDC1 33 34
  • 89.74 (n)
(Mus musculus)
Mammalia Gtdc1 33 16 34
  • 81.98 (n)
(Rattus norvegicus)
Mammalia Gtdc1 33
  • 81.15 (n)
(Monodelphis domestica)
Mammalia GTDC1 34
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia GTDC1 34
  • 69 (a)
(Gallus gallus)
Aves GTDC1 34
  • 62 (a)
(Anolis carolinensis)
Reptilia GTDC1 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gtdc1 33
  • 68.06 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9460 33
(Danio rerio)
Actinopterygii gtdc1 33 34
  • 63.33 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009573 33
  • 56.01 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15914 33 34
  • 55.52 (n)
Species where no ortholog for GTDC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GTDC1 Gene

Gene Tree for GTDC1 (if available)
Gene Tree for GTDC1 (if available)

Paralogs for GTDC1 Gene

(1) SIMAP similar genes for GTDC1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with GTDC1: view

No data available for Paralogs for GTDC1 Gene

Variants for GTDC1 Gene

Sequence variations from dbSNP and Humsavar for GTDC1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000011880 -- 144,276,134(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000014900 -- 144,016,506(-) G/A intron_variant
rs1000026340 -- 144,143,083(-) A/T intron_variant
rs1000046499 -- 144,326,494(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000051523 -- 144,060,084(-) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GTDC1 Gene

Variant ID Type Subtype PubMed ID
esv2720915 CNV deletion 23290073
esv3592760 CNV loss 21293372
esv3592761 CNV loss 21293372
esv3592762 CNV loss 21293372
esv3592763 CNV loss 21293372
nsv1013338 CNV loss 25217958
nsv1072981 CNV deletion 25765185
nsv1122010 CNV deletion 24896259
nsv1133486 CNV deletion 24896259
nsv473668 CNV novel sequence insertion 20440878
nsv477437 CNV novel sequence insertion 20440878
nsv479611 CNV novel sequence insertion 20440878
nsv834396 CNV gain 17160897

Variation tolerance for GTDC1 Gene

Residual Variation Intolerance Score: 92.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.48; 55.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GTDC1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTDC1 Gene

Disorders for GTDC1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GTDC1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
colon adenocarcinoma
  • adenocarcinoma of colon
mowat-wilson syndrome
  • mows
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search GTDC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GTDC1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GTDC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GTDC1 Gene

Publications for GTDC1 Gene

  1. Cloning and expression of human GTDC1 gene (glycosyltransferase-like domain containing 1) from human fetal library. (PMID: 15068588) Zhao E … Mao YM (DNA and cell biology 2004) 2 3 4 22 58
  2. Remarkable expression in the colon adenocarcinoma of Hmat-Xa, a human mannosyltransferase-like gene, that is homologous to drosophila gene GC15914. (PMID: 21821951) Shimono N … Nishikawa Y (Bioscience, biotechnology, and biochemistry 2011) 2 3 4 58
  3. 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 44 58
  4. Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran. (PMID: 19826048) Akbari MR … Narod SA (Cancer research 2009) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for GTDC1 Gene

Sources for GTDC1 Gene

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