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Aliases for NT5DC1 Gene

Aliases for NT5DC1 Gene

  • 5'-Nucleotidase Domain Containing 1 2 3 5
  • 5'-Nucleotidase Domain-Containing Protein 1 3 4
  • NT5C2L1 3 4
  • 5'-Nucleotidase, Cytosolic II-Like 1 Protein 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. Diseases associated with NT5DC1 include Metaphyseal Chondrodysplasia, Schmid Type. Gene Ontology (GO) annotations related to this gene include hydrolase activity and 5'-nucleotidase activity. An important paralog of this gene is NT5DC3.

Additional gene information for NT5DC1 Gene

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

GeneHancer (GH) Regulatory Elements for NT5DC1 Gene

Promoters and enhancers for NT5DC1 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
GH06J116098 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 614.3 -0.2 -173 4.7 ZNF652 ZFX ELF3 MNT NKRF POLR2A MLLT1 ZNF121 CEBPG ZNF687 NT5DC1 FRK KPNA5 COL10A1 TSPYL4 GC06M116078
GH06J116074 Enhancer 1 Ensembl ENCODE 17.1 -26.7 -26722 1 NCOA3 SMARCA4 FOSL2 CEBPA GATAD2A CTBP1 SMARCC1 CEBPB JUN SMARCC2 FRK NT5DC1 GC06M116078 GC06M116052
GH06J116015 Enhancer 0.8 ENCODE 16.4 -84.1 -84066 3.3 CEBPG RELA SP1 PPARG ZNF644 KAT8 RXRA CEBPA GATAD2A RXRB FRK NT5DC1 CALHM6 TPI1P3 PIR54414
GH06J116058 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 6.5 -41.4 -41409 5.6 ELF3 MNT CBFA2T2 POLR2A CEBPG ELF1 SP1 HNF1A PPARG SP5 FRK GC06M116052 NT5DC1 GC06M116078
GH06J116086 Enhancer 1 Ensembl ENCODE 9.8 -13.2 -13179 1.3 SP1 ZNF687 RELA CREM MLLT1 ZBED1 IKZF1 IKZF2 ZNF143 POLR2A FRK NT5DC1 GC06M116078
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NT5DC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NT5DC1 gene promoter:
  • AML1a
  • AP-1
  • c-Myc
  • C/EBPalpha
  • Evi-1
  • Max1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • MRF-2

Genomic Locations for NT5DC1 Gene

Genomic Locations for NT5DC1 Gene
148,675 bases
Plus strand
148,662 bases
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:
    Recommended name:
    5'-nucleotidase domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • B2RND9
    • B3KR35
    • Q6XYD5

    Protein attributes for NT5DC1 Gene

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

    Alternative splice isoforms for NT5DC1 Gene


neXtProt entry for NT5DC1 Gene

Post-translational modifications for NT5DC1 Gene

  • Ubiquitination at posLast=154154
  • 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

Gene Families for NT5DC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NT5DC1 Gene

Suggested Antigen Peptide Sequences for NT5DC1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ33599 fis, clone BRAMY2013736, highly similar to 5'-nucleotidase domain-containing protein 1 (B3KR35_HUMAN)
  • 5'-nucleotidase domain-containing protein 1 (NT5D1_HUMAN)
  • HT023 (Q9H2R1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



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

Function for NT5DC1 Gene

Enzyme Numbers (IUBMB) for NT5DC1 Gene

Phenotypes From GWAS Catalog 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 21873635
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

Clone Products

  • Applied Biological Materials (abm): Clones for NT5DC1 - Now 50% OFF >
  • * NT5DC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * NT5DC1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

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
cytosol 2
peroxisome 1
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for NT5DC1 Gene

Pathways & Interactions for NT5DC1 Gene

PathCards logo

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

mRNA/cDNA for NT5DC1 Gene

Unigene Clusters for NT5DC1 Gene

5'-nucleotidase domain containing 1:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for NT5DC1 - Now 50% OFF >
  • * NT5DC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * NT5DC1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

No ASD Table

Relevant External Links for NT5DC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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, MaxQB, and MOPED for NT5DC1 Gene

Protein tissue co-expression partners for NT5DC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NT5DC1 Gene:


SOURCE GeneReport for Unigene cluster for NT5DC1 Gene:


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

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
(Pan troglodytes)
Mammalia NT5DC1 35 34
  • 99.63 (n)
(Bos Taurus)
Mammalia NT5DC1 35 34
  • 89.97 (n)
(Canis familiaris)
Mammalia NT5DC1 35 34
  • 85.51 (n)
(Mus musculus)
Mammalia Nt5dc1 17 35 34
  • 83.11 (n)
(Rattus norvegicus)
Mammalia Nt5dc1 34
  • 81.55 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 77 (a)
-- 35
  • 69 (a)
-- 35
  • 60 (a)
(Monodelphis domestica)
Mammalia NT5DC1 35
  • 72 (a)
(Gallus gallus)
Aves NT5DC1 35 34
  • 74.01 (n)
(Anolis carolinensis)
Reptilia NT5DC1 35
  • 72 (a)
(Danio rerio)
Actinopterygii nt5dc1 35 34
  • 61.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2277 35 34
  • 47.07 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001319 34
  • 45.16 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
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

Gene Tree for NT5DC1 (if available)
Gene Tree for NT5DC1 (if available)
Evolutionary constrained regions (ECRs) for NT5DC1: view image

Paralogs for NT5DC1 Gene

Paralogs for NT5DC1 Gene

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

  • B3KR35_HUMAN
  • H0Y6C1_HUMAN
  • Q9H2R1_HUMAN 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 Variation AA Info Type
rs1059277 benign, Metaphyseal chondrodysplasia 116,119,047(+) C/T intron_variant
rs1064583 benign, not specified, Metaphyseal chondrodysplasia 116,125,413(+) A/C/G intron_variant
rs111033543 pathogenic, Metaphyseal chondrodysplasia, Schmid type 116,120,232(+) G/C intron_variant
rs111033544 pathogenic, Metaphyseal chondrodysplasia, Schmid type 116,120,324(+) A/C intron_variant
rs111033545 pathogenic, Metaphyseal chondrodysplasia, Schmid type 116,120,275(+) A/G intron_variant

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)

Additional Variant Information for NT5DC1 Gene

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

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

Disorders for NT5DC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NT5DC1 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
metaphyseal chondrodysplasia, schmid type
  • mcds
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NT5DC1

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 NT5DC1: view

No data available for 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 SD … DREAM investigators (Diabetes care 2010) 3 45 58
  2. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira AR … Marazita ML (Genetics in medicine : official journal of the American College of Medical Genetics 2008) 3 45 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 58

Products for NT5DC1 Gene

Sources for NT5DC1 Gene

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