Aliases for GTDC1 Gene

Aliases for GTDC1 Gene

  • Glycosyltransferase Like Domain Containing 1 2 3 5
  • Glycosyltransferase-Like Domain-Containing Protein 1 3 4
  • Mannosyltransferase-Like Protein Xa 3 4
  • Mat-Xa 3 4
  • 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J144502 Promoter/Enhancer 3.1 VISTA UCNEbase EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 500.1 -181.3 -181278 23.6 HNRNPK EP300 CTCF NRF1 USF1 JUND TEAD4 PHB2 FOS ZNF639 ZEB2 GTDC1 ENSG00000275372 NONHSAG029463.2 ZEB2-AS1 ENSG00000273537 ENSG00000277444 LINC01412 ENSG00000287115 LOC105373656
GH02J144330 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.7 667 3.4 ZBTB40 ZNF217 NRF1 POLR2G PHF8 ZIC2 POLR2A ZBTB10 ZBTB11 ZNF423 GTDC1 lnc-ZEB2-8
GH02J144355 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 13.2 -24.8 -24833 5.6 TCF12 SP1 GTF2E2 JUND FOS ZBTB5 TAF7 RELA EP300 CTBP1 GTDC1 ZEB2 lnc-ARHGAP15-17
GH02J144364 Enhancer 1 FANTOM5 Ensembl ENCODE 14 -32.5 -32522 1.5 EP300 RELA IKZF1 TBP NR2F1 SCRT1 PRDM10 HDGF NFIC ZNF366 GTDC1 ZEB2 lnc-ARHGAP15-17
GH02J144378 Enhancer 1 FANTOM5 ENCODE dbSUPER 12.1 -47.5 -47527 3.5 GTF2E2 MYC TRIM24 ZNF592 POLR2A ZNF395 EP400 CEBPG SMARCA4 ATF2 GTDC1 ZEB2 ZEB2-AS1 LOC101928386 lnc-ARHGAP15-17
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GTDC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GTDC1

Top Transcription factor binding sites by QIAGEN in the GTDC1 gene promoter:
  • AP-4
  • FOXD1
  • FOXJ2
  • FOXJ2 (long isoform)
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • RREB-1
  • SRY

Genomic Locations for GTDC1 Gene

Genomic Locations for GTDC1 Gene
chr2:143,938,068-144,332,568
(GRCh38/hg38)
Size:
394,501 bases
Orientation:
Minus strand
chr2:144,695,635-145,090,135
(GRCh37/hg19)
Size:
394,501 bases
Orientation:
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:
    Q4AE62-GTDC1_HUMAN
    Recommended name:
    Glycosyltransferase-like domain-containing protein 1
    Protein Accession:
    Q4AE62
    Secondary Accessions:
    • A0A087X2H5
    • A8K5P2
    • D3DP81
    • G1UFN1
    • G5EA49
    • H7BYJ5
    • Q53SM7
    • Q53TC5
    • Q6P7E7
    • Q6PJB6
    • Q6WKW6
    • Q9HAE5

    Protein attributes for GTDC1 Gene

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

Protein Domains for GTDC1 Gene

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

Suggested Antigen Peptide Sequences for GTDC1 Gene

GenScript: Design optimal peptide antigens:
  • Mat-Xa (GTDC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q4AE62

UniProtKB/Swiss-Prot:

GTDC1_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 GTDC1: view

Function for GTDC1 Gene

Phenotypes From GWAS Catalog for GTDC1 Gene

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTDC1

Clone Products

  • Addgene plasmids for GTDC1

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

Localization for GTDC1 Gene

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 GTDC1 gene
Compartment Confidence
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
plasma membrane 0
extracellular 0

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

PathCards logo

SuperPathways for GTDC1 Gene

No Data Available

Interacting Proteins for GTDC1 Gene

;

Gene Ontology (GO) - Biological Process for GTDC1 Gene

None

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

mRNA/cDNA for GTDC1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTDC1

Clone Products

  • Addgene plasmids for GTDC1

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: -
SP9:

Relevant External Links for GTDC1 Gene

GeneLoc Exon Structure for
GTDC1

Expression for GTDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GTDC1

SOURCE GeneReport for Unigene cluster for GTDC1 Gene:

Hs.44780

mRNA Expression by UniProt/SwissProt for GTDC1 Gene:

Q4AE62-GTDC1_HUMAN
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
chimpanzee
(Pan troglodytes)
Mammalia GTDC1 31 30
  • 99.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GTDC1 31 30
  • 89.89 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GTDC1 31 30
  • 89.74 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gtdc1 17 31 30
  • 81.98 (n)
rat
(Rattus norvegicus)
Mammalia Gtdc1 30
  • 81.15 (n)
oppossum
(Monodelphis domestica)
Mammalia GTDC1 31
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GTDC1 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves GTDC1 31
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GTDC1 31
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gtdc1 30
  • 68.06 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9460 30
zebrafish
(Danio rerio)
Actinopterygii gtdc1 31 30
  • 63.33 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009573 30
  • 56.01 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15914 31 30
  • 55.52 (n)
OneToOne
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

ENSEMBL:
Gene Tree for GTDC1 (if available)
TreeFam:
Gene Tree for GTDC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GTDC1: view image

Paralogs for GTDC1 Gene

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

  • GTDC1_HUMAN
  • B8ZZ45_HUMAN
  • C9J2C5_HUMAN
  • C9JIH3_HUMAN
  • F2Z2V8_HUMAN
  • G5EA49_HUMAN
  • H7BYJ5_HUMAN
  • L0R871_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GTDC1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
712902 Likely Benign: not provided 143,947,122(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
727232 Benign: not provided 143,947,121(-) C/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
775760 Benign: not provided 144,141,915(-) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
rs3731958 - p.Met137Ile

Additional dbSNP identifiers (rs#s) for GTDC1 Gene

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)
GTDC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GTDC1

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

(4) MalaCards diseases for GTDC1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
colon adenocarcinoma
  • adenocarcinoma of colon
mowat-wilson syndrome
  • mws
b-cell childhood acute lymphoblastic leukemia
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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 54
  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 54
  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 41 54
  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 41 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for GTDC1 Gene

Sources for GTDC1 Gene