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Aliases for NT5DC1 Gene

Aliases for NT5DC1 Gene

  • 5'-Nucleotidase Domain Containing 1 2
  • 5-Nucleotidase Domain Containing 1 2 3 5
  • NT5C2L1 3 4
  • 5-Nucleotidase, Cytosolic II-Like 1 Protein 3
  • 5-Nucleotidase Domain-Containing Protein 1 3
  • 5-Nucleotidase, Cytosolic II-Like 1 2
  • EC 3.1.3.- 4
  • C6orf200 3
  • LP2642 3

External Ids for NT5DC1 Gene

Previous HGNC Symbols for NT5DC1 Gene

  • NT5C2L1

Previous GeneCards Identifiers for NT5DC1 Gene

  • GC06P116529
  • GC06P116421
  • GC06P114002

Summaries for NT5DC1 Gene

Entrez Gene Summary for NT5DC1 Gene

  • While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010]

GeneCards Summary for NT5DC1 Gene

NT5DC1 (5'-Nucleotidase Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include hydrolase activity and 5-nucleotidase activity. An important paralog of this gene is NT5DC3.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NT5DC1 Gene

Genomics for NT5DC1 Gene

Regulatory Elements for NT5DC1 Gene

Enhancers for NT5DC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G116098 1.4 Ensembl ENCODE 14.4 -0.2 -173 4.7 HDGF HNRNPUL1 PKNOX1 CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 KPNA5 NT5DC1 COL10A1 TSPYL4 FRK GC06M116078
GH06G116015 1.1 Ensembl ENCODE 16.4 -84.1 -84066 3.3 SOX13 PKNOX1 TFAP4 FOXA2 SAP130 ZNF644 RELA NCOR1 MAFK CREM FRK NT5DC1 FAM26F TPI1P3 PIR54414
GH06G116086 0.8 ENCODE 9.8 -13.2 -13179 1.3 CTCF PKNOX1 TBL1XR1 ZMYM3 ASH2L EBF1 RELA ARID3A POLR2A CBX5 FRK NT5DC1 GC06M116078
GH06G116058 1.2 Ensembl ENCODE 6.5 -40.3 -40259 3.3 PKNOX1 FOXA2 ATF1 ARID4B SIN3A DMAP1 YY1 TCF12 SLC30A9 ZNF766 FRK NT5DC1 GC06M116052 GC06M116078
GH06G116112 0.7 ENCODE 7.9 +11.3 11290 0.1 CTCF ZNF654 TRIM22 FEZF1 REST RAD21 KLF16 ZNF143 SMC3 HMBOX1 NT5DC1 NIP7P3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NT5DC1 on UCSC Golden Path with GeneCards custom track

Promoters for NT5DC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000201619 178 1600 HDGF HNRNPUL1 PKNOX1 CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for NT5DC1 Gene

Chromosome:
6
Start:
116,100,823 bp from pter
End:
116,249,497 bp from pter
Size:
148,675 bases
Orientation:
Plus strand

Genomic View for NT5DC1 Gene

Genes around NT5DC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NT5DC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NT5DC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NT5DC1 Gene

Proteins for NT5DC1 Gene

  • Protein details for NT5DC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TFE4-NT5D1_HUMAN
    Recommended name:
    5-nucleotidase domain-containing protein 1
    Protein Accession:
    Q5TFE4
    Secondary Accessions:
    • B2RND9
    • B3KR35
    • Q6XYD5

    Protein attributes for NT5DC1 Gene

    Size:
    455 amino acids
    Molecular mass:
    51845 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAP34458.1; Type=Frameshift; Positions=339; Evidence={ECO:0000305};

    Alternative splice isoforms for NT5DC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NT5DC1 Gene

Post-translational modifications for NT5DC1 Gene

  • Ubiquitination at Lys154
  • Modification sites at PhosphoSitePlus

Other Protein References for NT5DC1 Gene

No data available for DME Specific Peptides for NT5DC1 Gene

Domains & Families for NT5DC1 Gene

Protein Domains for NT5DC1 Gene

Graphical View of Domain Structure for InterPro Entry

Q5TFE4

UniProtKB/Swiss-Prot:

NT5D1_HUMAN :
  • Belongs to the 5(3)-deoxyribonucleotidase family.
Family:
  • Belongs to the 5(3)-deoxyribonucleotidase family.
genes like me logo Genes that share domains with NT5DC1: view

No data available for Gene Families for NT5DC1 Gene

Function for NT5DC1 Gene

Enzyme Numbers (IUBMB) for NT5DC1 Gene

Gene Ontology (GO) - Molecular Function for NT5DC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008253 5-nucleotidase activity IBA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with NT5DC1: view
genes like me logo Genes that share phenotypes with NT5DC1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NT5DC1 Gene

Localization for NT5DC1 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 NT5DC1 gene
Compartment Confidence
nucleus 2
cytosol 2
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for NT5DC1 Gene

Pathways & Interactions for NT5DC1 Gene

SuperPathways for NT5DC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NT5DC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016311 dephosphorylation IEA --
genes like me logo Genes that share ontologies with NT5DC1: view

No data available for Pathways by source and SIGNOR curated interactions for NT5DC1 Gene

Drugs & Compounds for NT5DC1 Gene

No Compound Related Data Available

Transcripts for NT5DC1 Gene

Unigene Clusters for NT5DC1 Gene

5-nucleotidase domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NT5DC1 Gene

No ASD Table

Relevant External Links for NT5DC1 Gene

GeneLoc Exon Structure for
NT5DC1
ECgene alternative splicing isoforms for
NT5DC1

Expression for NT5DC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NT5DC1 Gene

Protein differential expression in normal tissues from HIPED for NT5DC1 Gene

This gene is overexpressed in Tonsil (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NT5DC1 Gene



Protein tissue co-expression partners for NT5DC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NT5DC1 Gene:

NT5DC1

SOURCE GeneReport for Unigene cluster for NT5DC1 Gene:

Hs.520341

Evidence on tissue expression from TISSUES for NT5DC1 Gene

  • Nervous system(4.6)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with NT5DC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NT5DC1 Gene

Orthologs for NT5DC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NT5DC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NT5DC1 34 35
  • 99.63 (n)
cow
(Bos Taurus)
Mammalia NT5DC1 34 35
  • 89.97 (n)
dog
(Canis familiaris)
Mammalia NT5DC1 34 35
  • 85.51 (n)
mouse
(Mus musculus)
Mammalia Nt5dc1 34 16 35
  • 83.11 (n)
rat
(Rattus norvegicus)
Mammalia Nt5dc1 34
  • 81.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 77 (a)
OneToMany
-- 35
  • 69 (a)
OneToMany
-- 35
  • 60 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia NT5DC1 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves NT5DC1 34 35
  • 74.01 (n)
lizard
(Anolis carolinensis)
Reptilia NT5DC1 35
  • 72 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii nt5dc1 34 35
  • 61.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2277 34 35
  • 47.07 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001319 34
  • 45.16 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToOne
Species where no ortholog for NT5DC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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)

Evolution for NT5DC1 Gene

ENSEMBL:
Gene Tree for NT5DC1 (if available)
TreeFam:
Gene Tree for NT5DC1 (if available)

Paralogs for NT5DC1 Gene

Paralogs for NT5DC1 Gene

(1) SIMAP similar genes for NT5DC1 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for NT5DC1 Gene

genes like me logo Genes that share paralogs with NT5DC1: view

Variants for NT5DC1 Gene

Sequence variations from dbSNP and Humsavar for NT5DC1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs111033543 Pathogenic 116,120,232(-) GAATA(C/G)ACCAA intron-variant, reference, stop-gained
rs111033544 Pathogenic 116,120,324(-) TATAC(G/T)ATTTT intron-variant, reference, missense
rs111033545 Pathogenic 116,120,275(-) AGGCC(C/T)GTATA intron-variant, reference, missense
rs111033546 Pathogenic 116,120,345(-) TTACT(C/T)GTCAG intron-variant, reference, missense
rs111033547 Pathogenic 116,120,163(-) GTGTG(A/G)CTCCA intron-variant, reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for NT5DC1 Gene

Variant ID Type Subtype PubMed ID
esv3576211 CNV gain 25503493
esv3610468 CNV loss 21293372
esv3610469 CNV loss 21293372
nsv474980 CNV novel sequence insertion 20440878
nsv523972 CNV gain 19592680

Variation tolerance for NT5DC1 Gene

Residual Variation Intolerance Score: 53.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.67; 31.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NT5DC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NT5DC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NT5DC1 Gene

Disorders for NT5DC1 Gene

Relevant External Links for NT5DC1

Genetic Association Database (GAD)
NT5DC1
Human Genome Epidemiology (HuGE) Navigator
NT5DC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NT5DC1

No disorders were found for NT5DC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NT5DC1 Gene

Publications for NT5DC1 Gene

  1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  2. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira A.R. … Marazita M.L. (Genet. Med. 2008) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D. … Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 64

Products for NT5DC1 Gene

Sources for NT5DC1 Gene

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