Aliases for NT5C1A Gene
Aliases for NT5C1A Gene
External Ids for NT5C1A Gene
- HGNC: 17819
- Entrez Gene: 84618
- Ensembl: ENSG00000116981
- OMIM: 610525
- UniProtKB: Q9BXI3
Previous GeneCards Identifiers for NT5C1A Gene
- GC01M040154
- GC01M039128
- GC01M039588
- GC01M039538
- GC01M039793
- GC01M039897
- GC01M038243
Summaries 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 Crigler-Najjar Syndrome, Type I and Inclusion Body Myositis. Among its related pathways are NAD metabolism and Pyrimidine metabolism (KEGG). Gene Ontology (GO) annotations related to this gene include nucleotide binding and 5-nucleotidase activity. An important paralog of this gene is NT5C1B.
UniProtKB/Swiss-Prot 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
- Monarch Initiative
- Search for NT5C1A at DataMed
- Search for NT5C1A at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NT5C1A Gene
Genomics for NT5C1A Gene
GeneHancer (GH) Regulatory Elements for NT5C1A Gene
Promoters and enhancers for NT5C1A Gene
- 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
- Top Transcription factor binding sites by QIAGEN in the NT5C1A gene promoter:
-
- oct-B2
- Sp1
- Oct-B1
- oct-B3
- POU2F1
- POU2F1a
- POU2F2
- POU2F2 (Oct-2.1)
- POU2F2B
- POU2F2C
Regulatory Element Products
Genomic Locations for NT5C1A Gene
Genomic Locations for NT5C1A Gene
- chr1:39,659,121-39,672,038
- (GRCh38/hg38)
- Size:
- 12,918 bases
- Orientation:
- Minus strand
- chr1:40,124,793-40,137,710
- (GRCh37/hg19)
- Size:
- 12,918 bases
- Orientation:
- Minus strand
Genomic View for NT5C1A Gene
Genes around NT5C1A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p34.2 by Entrez Gene
- 1p34.2 by HGNC
- 1p34.2 by Ensembl
NT5C1A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NT5C1A Gene
Proteins for NT5C1A Gene
-
Protein details for NT5C1A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BXI3-5NT1A_HUMAN
- Recommended name:
- Cytosolic 5-nucleotidase 1A
- Protein Accession:
- Q9BXI3
- Q3SYB9
- Q5TG98
- Q9BWT8
Protein attributes for NT5C1A Gene
- Size:
- 368 amino acids
- Molecular mass:
- 41021 Da
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Quaternary structure:
- No Data Available
Protein Expression for NT5C1A Gene
Post-translational modifications for NT5C1A Gene
Other Protein References for NT5C1A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for NT5C1A
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-
Abcam antibodies for NT5C1A
- Invitrogen Antibodies for NT5C1A (AFLGC-NT5C1A)
- GeneTex NT5C1A Antibody for NT5C1A
-
Santa Cruz Biotechnology (SCBT) Antibodies for NT5C1A
Protein Products
-
OriGene Purified Proteins for NT5C1A
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- Novus Biologicals proteins for NT5C1A
- antibodies-online: Search results for 3 available NT5C1A Proteins ranked by validation data
- Compare Top NT5C1A Proteins
-
Quality Products:
- Search GeneTex for Proteins for NT5C1A
Assay Products
No data available for DME Specific Peptides for NT5C1A Gene
Domains & Families for NT5C1A Gene
Gene Families for NT5C1A Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for NT5C1A Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for NT5C1A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9BXI3- Family:
-
- Belongs to the 5-nucleotidase type 3 family.
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:
- A 5-ribonucleotide + H(2)O = a ribonucleoside + phosphate.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Activated by ADP.
Enzyme Numbers (IUBMB) for NT5C1A Gene
Phenotypes From GWAS Catalog 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 | EXP,NAS | 11133996 |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for NT5C1A Gene
Animal Model Products
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-
CRISPR Products
-
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-
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miRNA for NT5C1A Gene
- miRTarBase miRNAs that target NT5C1A
miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for NT5C1A
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for NT5C1A
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NT5C1A Gene
Localization for NT5C1A Gene
Subcellular locations from UniProtKB/Swiss-Prot for NT5C1A Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| mitochondrion | 2 |
| nucleus | 2 |
| extracellular | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for NT5C1A Gene
Pathways & Interactions for NT5C1A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Purine metabolism | ||
| 2 | Pyrimidine metabolism (KEGG) | ||
| 3 | Metabolism |
.37
|
|
| 4 | NAD metabolism |
.42
|
|
| 5 | Pyrimidine metabolism (REACTOME) | ||
Pathways by source for NT5C1A Gene
2 BioSystems pathways for NT5C1A Gene
6 Reactome pathways for NT5C1A Gene
4 KEGG pathways for NT5C1A Gene
2 GeneGo (Thomson Reuters) pathways for NT5C1A Gene
Interacting Proteins for NT5C1A Gene
Selected Interacting proteins:
ENSP00000235628
Q9BXI3-5NT1A_HUMAN
for NT5C1A Gene via
STRING
IID
UniProtKB
GPS-Prot Interaction Network for NT5C1A
| 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 | -- |
No data available for SIGNOR curated interactions for NT5C1A Gene
Drugs & Compounds for NT5C1A Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Cladribine | Approved, Investigational | Pharma | Apoptosis inducer in CLL cells | 81 | ||
| Fluorouracil | Approved | Pharma | RNA processing inhibitor and thymidylate synthase inhibitor | 1970 | ||
| Gemcitabine | Approved | Pharma | Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs | 2100 | ||
| Adenosine | Approved, Investigational | Pharma | Agonist, Channel blocker | 551 | ||
| Inosine | Approved, Investigational | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| beta-nicotinamide D-ribonucleotide |
|
|
||||
| deoxyadenosine |
|
958-09-8 |
|
|||
| Deoxyadenosine monophosphate |
|
653-63-4 |
|
|||
| deoxyguanosine |
|
961-07-9 |
|
|||
| Nicotinamide riboside |
|
1341-23-7 |
|
Drug Products
Transcripts for NT5C1A Gene
mRNA/cDNA for NT5C1A Gene
- (1) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (5) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000235628 1107 bps (uc001cdq.1)
Unigene Clusters for NT5C1A Gene
CRISPR Products
-
OriGene CRISPR knockouts for NT5C1A
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- Applied Biological Materials CRISPR for NT5C1A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NT5C1A
- GenScript: Design CRISPR guide RNA sequences for NT5C1A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NT5C1A
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Clone Products
- Sino Biological Human cDNA Clone for NT5C1A
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- Applied Biological Materials Clones for NT5C1A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression 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).
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
NURSA nuclear receptor signaling pathways regulating expression of NT5C1A Gene:
NT5C1ASOURCE GeneReport for Unigene cluster for NT5C1A Gene:
Hs.307006mRNA Expression by UniProt/SwissProt for NT5C1A Gene:
Q9BXI3-5NT1A_HUMAN
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)
Primer Products
-
OriGene qPCR primer pairs for NT5C1A
-
OriGene qPCR primer pairs and template standards for NT5C1A
- genomics-online: primer clones - Search results for 109 available NT5C1A gene related products
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Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | NT5C1A 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | NT5C1A 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | NT5C1A 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | NT5C1A 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Nt5c1a 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Nt5c1a 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | NT5C1A 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | NT5C1A 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | NT5C1A 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100495335 33 |
|
||
| MGC75654 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.8799 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC799449 33 |
|
||
| NT5C1A (2 of 2) 34 |
|
OneToMany | |||
| nt5c1a 34 |
|
OneToMany | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5436 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- 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
- ENSEMBL:
- Gene Tree for NT5C1A (if available)
- TreeFam:
- Gene Tree for NT5C1A (if available)
- Aminode:
- 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:
- 5NT1A_HUMAN
Variants for NT5C1A Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000360319 | -- | 39,669,287(-) | T/G | intron_variant | |
| rs1000538364 | -- | 39,662,633(-) | C/T | intron_variant | |
| rs1000641732 | -- | 39,669,475(-) | CCCC/CCC | intron_variant | |
| rs1001089925 | -- | 39,666,930(-) | C/G | intron_variant | |
| rs1001363535 | -- | 39,660,674(-) | A/C | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2530832 | CNV | insertion | 19546169 |
| nsv1116447 | OTHER | inversion | 24896259 |
| nsv577 | CNV | insertion | 18451855 |
| nsv7177 | OTHER | inversion | 18451855 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NT5C1A Gene
Disorders for NT5C1A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| crigler-najjar syndrome, type i |
|
|
| inclusion body myositis |
|
|
| myositis |
|
|
Search NT5C1A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for NT5C1A
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for NT5C1A Gene
Publications for NT5C1A Gene
- 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 22 58
- 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 22 58
- 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 22 58
- 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 44 58
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
Products for NT5C1A Gene
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Sources for NT5C1A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
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