Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008] See more...

Aliases for NT5C1A Gene

Aliases for NT5C1A Gene

  • 5'-Nucleotidase, Cytosolic IA 2 3 5
  • Cytosolic 5'-Nucleotidase IA 2 3 4
  • Cytosolic 5' Nucleotidase, Type 1A 2 3
  • Cytosolic 5'-Nucleotidase 1A 3 4
  • AMP-Specific 5'-NT 2 3
  • CN-IA 3 4
  • CN-I 3 4
  • CN1A 3 4
  • EC 4
  • CN1 3
  • CNI 3

External Ids for NT5C1A Gene

Previous GeneCards Identifiers for NT5C1A Gene

  • GC01M040154
  • GC01M039128
  • GC01M039588
  • GC01M039538
  • GC01M039793
  • GC01M039897
  • GC01M038243

Summaries for NT5C1A Gene

Entrez Gene Summary for NT5C1A Gene

  • Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008]

GeneCards Summary for NT5C1A Gene

NT5C1A (5'-Nucleotidase, Cytosolic IA) is a Protein Coding gene. Diseases associated with NT5C1A include Epiphyseal Chondrodysplasia, Miura Type and Inclusion Body Myositis. Among its related pathways are ATP/ITP metabolism and NAD metabolism. Gene Ontology (GO) annotations related to this gene include nucleotide binding and 5'-nucleotidase activity. An important paralog of this gene is NT5C1B-RDH14.

UniProtKB/Swiss-Prot Summary for NT5C1A Gene

  • Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides and has a broad substrate specificity. Helps to regulate adenosine levels in heart during ischemia and hypoxia.

Additional gene information for NT5C1A Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NT5C1A Gene

Genomics for NT5C1A Gene

GeneHancer (GH) Regulatory Elements for NT5C1A Gene

Promoters and enhancers for NT5C1A 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
GH01J039670 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 506.6 +0.3 337 2.2 CTCF TEAD4 ZBTB26 REST MYC SMC3 MXI1 ZNF341 EZH2 SP2 NT5C1A HSALNG0002798 HPCAL4 OXCT2 HEYL
GH01J039645 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.7 +25.0 24997 3.6 TEAD4 MYC TAF9B RBM25 NR2F2 TCF12 CTCF TRIM24 MAX POLR2A HPCAL4 NT5C1A PPIE PABPC4 HEYL OXCT2
GH01J039624 Enhancer 0.8 Ensembl ENCODE dbSUPER 11.3 +46.3 46254 2.8 REST ZNF341 NR2F2 RXRA CEBPB MYC MAX SP1 NT5C1A OXCT2 CAP1 lnc-HEYL-1 ENSG00000225903 HEYL
GH01J039609 Enhancer 0.8 ENCODE 10.9 +62.3 62264 0.2 CTCF ZNF423 GABPA CTBP1 TRIM22 HDAC2 SALL2 ZBTB17 ZNF263 SMC3 piR-31470-004 OXCT2P1 ENSG00000259943 HEYL ENSG00000225903 PABPC4 NT5C1A
GH01J039605 Enhancer 0.8 ENCODE 10.9 +65.9 65948 1 CTCF FOS REST MYC TOE1 RAD21 TRIM22 SMC3 CREB1 MAX HEYL ENSG00000225903 PABPC4 NT5C1A piR-31470-004
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NT5C1A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NT5C1A

Top Transcription factor binding sites by QIAGEN in the NT5C1A gene promoter:
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C
  • Sp1

Genomic Locations for NT5C1A Gene

Genomic Locations for NT5C1A Gene
12,918 bases
Minus strand
12,918 bases
Minus strand

Genomic View for NT5C1A Gene

Genes around NT5C1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NT5C1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NT5C1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NT5C1A Gene

Proteins for NT5C1A Gene

  • Protein details for NT5C1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cytosolic 5'-nucleotidase 1A
    Protein Accession:
    Secondary Accessions:
    • Q3SYB9
    • Q5TG98
    • Q9BWT8

    Protein attributes for NT5C1A Gene

    368 amino acids
    Molecular mass:
    41021 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

neXtProt entry for NT5C1A Gene

Post-translational modifications for NT5C1A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NT5C1A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for NT5C1A
  • Santa Cruz Biotechnology (SCBT) Antibodies for NT5C1A

No data available for DME Specific Peptides for NT5C1A Gene

Domains & Families for NT5C1A Gene

Gene Families for NT5C1A Gene

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

Protein Domains for NT5C1A Gene

  • 5-nucleotidase

Suggested Antigen Peptide Sequences for NT5C1A Gene

GenScript: Design optimal peptide antigens:
  • Cytosolic 5'-nucleotidase IA (5NT1A_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the 5'-nucleotidase type 3 family.
  • Belongs to the 5'-nucleotidase type 3 family.
genes like me logo Genes that share domains with NT5C1A: view

Function for NT5C1A Gene

Molecular function for NT5C1A Gene

UniProtKB/Swiss-Prot Function:
Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides and has a broad substrate specificity. Helps to regulate adenosine levels in heart during ischemia and hypoxia.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ribonucleoside 5'-phosphate + H2O = a ribonucleoside + phosphate; Xref=Rhea:RHEA:12484, ChEBI:CHEBI:15377, ChEBI:CHEBI:18254, ChEBI:CHEBI:43474, ChEBI:CHEBI:58043; EC=;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by ADP.

Enzyme Numbers (IUBMB) for NT5C1A Gene

Phenotypes From GWAS Catalog for NT5C1A Gene

Gene Ontology (GO) - Molecular Function for NT5C1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0008253 5'-nucleotidase activity NAS,IBA 11133996
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with NT5C1A: view
genes like me logo Genes that share phenotypes with NT5C1A: view

Animal Models for NT5C1A Gene

MGI Knock Outs for NT5C1A:

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NT5C1A Gene

Localization for NT5C1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for NT5C1A 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 NT5C1A gene
Compartment Confidence
cytosol 4
nucleus 3
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for NT5C1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NT5C1A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NT5C1A Gene

Pathways & Interactions for NT5C1A Gene

genes like me logo Genes that share pathways with NT5C1A: view

Pathways by source for NT5C1A Gene

2 GeneGo (Thomson Reuters) pathways for NT5C1A Gene
  • ATP/ITP metabolism
  • NAD metabolism

Gene Ontology (GO) - Biological Process for NT5C1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006195 purine nucleotide catabolic process TAS --
GO:0009116 nucleoside metabolic process NAS 11133996
GO:0009117 nucleotide metabolic process IEA --
GO:0009128 purine nucleoside monophosphate catabolic process IEA --
GO:0016311 dephosphorylation IEA --
genes like me logo Genes that share ontologies with NT5C1A: view

No data available for SIGNOR curated interactions for NT5C1A Gene

Drugs & Compounds for NT5C1A Gene

(23) Drugs for NT5C1A Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cladribine Approved, Investigational Pharma Apoptosis inducer in CLL cells 101
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 2258
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2377
Adenosine Approved, Investigational Pharma Agonist, Channel blocker 642
Cytarabine Approved, Experimental, Investigational Pharma 1324

(12) Additional Compounds for NT5C1A Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
beta-nicotinamide D-ribonucleotide
  • (2R,3S,5R)-5-(6-amino-9H-Purin-9-yl)-2-(hydroxymethyl)tetrahydrofuran-3-ol
  • 5-(6-amino-PURIN-9-yl)-2-hydroxymethyl-tetrahydro-furan-3-ol
  • 9-(2-Deoxy-beta-D-erythro-pentofuranosyl)adenine
  • 9-(2-Deoxy-beta-D-ribofuranosyl)-9H-purin-6-amine
  • Adenine deoxyribonucleoside
Deoxyadenosine monophosphate
  • 2'-dAMP
  • 2'-Deoxy-5'-adenosine monophosphate
  • 2'-Deoxy-AMP
  • 2'-Deoxyadenosine 5'-(dihydrogen phosphate)
  • 2'-Deoxyadenosine 5'-monophosphate
  • 2-amino-9-(2-Deoxy-9-beta-D-ribofuranosyl)-9H-purin-6-ol
  • 9-(2-Deoxy-beta-D-erythro-pentofuranosyl)-guanine
  • dG
  • Guanine deoxy nucleoside
  • 2-amino-9-(2-Deoxy-9-b-D-ribofuranosyl)-9H-purin-6-ol
Nicotinamide ribotide
  • 3-(Aminocarbonyl)-1-(5-O-phosphonato-beta-D-ribofuranosyl)pyridinium
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-beta-D-ribofuranosyl)pyridinium, inner salt
  • beta-Nicotinamide D-ribonucleotide
  • beta-Nicotinamide mononucleotide
  • beta-Nicotinamide ribonucleotide
genes like me logo Genes that share compounds with NT5C1A: view

Transcripts for NT5C1A Gene

mRNA/cDNA for NT5C1A Gene

4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NT5C1A Gene

No ASD Table

Relevant External Links for NT5C1A Gene

GeneLoc Exon Structure for

Expression for NT5C1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NT5C1A Gene

mRNA differential expression in normal tissues according to GTEx for NT5C1A Gene

This gene is overexpressed in Muscle - Skeletal (x16.7), Heart - Left Ventricle (x6.0), Heart - Atrial Appendage (x6.0), and Brain - Cerebellar Hemisphere (x4.3).

Protein differential expression in normal tissues from HIPED for NT5C1A Gene

This gene is overexpressed in Heart (55.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NT5C1A Gene

Protein tissue co-expression partners for NT5C1A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NT5C1A

SOURCE GeneReport for Unigene cluster for NT5C1A Gene:


mRNA Expression by UniProt/SwissProt for NT5C1A Gene:

Tissue specificity: Highly expressed in skeletal muscle. Detected at intermediate levels in heart, brain, kidney and pancreas.

Evidence on tissue expression from TISSUES for NT5C1A Gene

  • Heart(4.4)
  • Muscle(3)
genes like me logo Genes that share expression patterns with NT5C1A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for NT5C1A Gene

Orthologs for NT5C1A Gene

This gene was present in the common ancestor of chordates.

Orthologs for NT5C1A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NT5C1A 31 30
  • 99.28 (n)
(Canis familiaris)
Mammalia NT5C1A 31 30
  • 91.3 (n)
(Bos Taurus)
Mammalia NT5C1A 31 30
  • 91.23 (n)
(Ornithorhynchus anatinus)
Mammalia NT5C1A 31
  • 90 (a)
(Mus musculus)
Mammalia Nt5c1a 17 31 30
  • 89.22 (n)
(Rattus norvegicus)
Mammalia Nt5c1a 30
  • 87.63 (n)
(Monodelphis domestica)
Mammalia NT5C1A 31
  • 87 (a)
(Gallus gallus)
Aves NT5C1A 31 30
  • 80.35 (n)
(Anolis carolinensis)
Reptilia NT5C1A 31
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495335 30
  • 71.48 (n)
MGC75654 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.8799 30
(Danio rerio)
Actinopterygii LOC799449 30
  • 72.02 (n)
NT5C1A (2 of 2) 31
  • 72 (a)
nt5c1a 31
  • 66 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5436 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 60 (a)
Species where no ortholog for NT5C1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 NT5C1A Gene

Gene Tree for NT5C1A (if available)
Gene Tree for NT5C1A (if available)
Evolutionary constrained regions (ECRs) for NT5C1A: view image

Paralogs for NT5C1A Gene

Paralogs for NT5C1A Gene

(2) SIMAP similar genes for NT5C1A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NT5C1A: view

Variants for NT5C1A Gene

Additional dbSNP identifiers (rs#s) for NT5C1A Gene

Structural Variations from Database of Genomic Variants (DGV) for NT5C1A Gene

Variant ID Type Subtype PubMed ID
esv2530832 CNV insertion 19546169
nsv1116447 OTHER inversion 24896259
nsv577 CNV insertion 18451855
nsv7177 OTHER inversion 18451855

Variation tolerance for NT5C1A Gene

Residual Variation Intolerance Score: 26.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.70; 32.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NT5C1A Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NT5C1A Gene

Disorders for NT5C1A Gene

MalaCards: The human disease database

(8) MalaCards diseases for NT5C1A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
epiphyseal chondrodysplasia, miura type
  • ecdm
inclusion body myositis
  • ibm
crigler-najjar syndrome, type i
  • hyperbilirubinemia, crigler-najjar type i; hblrcn1
  • myopathy, familial idiopathic inflammatory; iim
  • bilirubin encephalopathy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NT5C1A

genes like me logo Genes that share disorders with NT5C1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NT5C1A Gene

Publications for NT5C1A Gene

  1. Human cytosolic 5'-nucleotidase I: characterization and role in nucleoside analog resistance. (PMID: 11133996) Hunsucker SA … Mitchell BS (The Journal of biological chemistry 2001) 2 3 4 23 54
  2. Cloning of a mouse cytosolic 5'-nucleotidase-I identifies a new gene related to human autoimmune infertility-related protein. (PMID: 11690631) Sala-Newby GB … Newby AC (Biochimica et biophysica acta 2001) 2 3 23 54
  3. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. (PMID: 19451621) Landers JE … Brown RH (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 41 54
  4. Expression of cytosolic 5' nucleotidase does not correlate with expression of oxidative metabolism marker: myoglobine in human skeletal muscles. (PMID: 19352542) Lechward K … Tkacz-Stachowska K (Acta biochimica et biophysica Sinica 2009) 3 23 54
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54

Products for NT5C1A Gene

Sources for NT5C1A Gene