Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NT5C3A Gene

Aliases for NT5C3A Gene

  • 5'-Nucleotidase, Cytosolic IIIA 2
  • NT5C3 3 4 6
  • UMPH1 3 4 6
  • Uridine 5-Monophosphate Hydrolase 1 3 4
  • 5-Nucleotidase, Cytosolic IIIA 2 3
  • 5-Nucleotidase, Cytosolic III 2 3
  • Pyrimidine 5-Nucleotidase 1 3 4
  • Cytosolic 5-Nucleotidase 3 3 4
  • CN-III 3 4
  • Lupin 2 3
  • P5N-1 3 4
  • PSN1 3 6
  • PN-I 3 4
  • P36 3 4
  • Cytosolic 5-Nucleotidase III 4
  • Cytosolic 5-Nucleotidase 3A 3
  • EC 3.1.3.5 4
  • HUMP1 3
  • POMP 3
  • UMPH 3
  • P5N1 4

External Ids for NT5C3A Gene

Previous Symbols for NT5C3A Gene

  • NT5C3

Summaries for NT5C3A Gene

Entrez Gene Summary for NT5C3A Gene

  • This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. [provided by RefSeq, Mar 2012]

GeneCards Summary for NT5C3A Gene

NT5C3A (5'-Nucleotidase, Cytosolic IIIA) is a Protein Coding gene. Diseases associated with NT5C3A include hemolytic anemia due to pyrimidine 5 nucleotidase deficiency and anemia, hemolytic, due to umph1 deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include nucleotide binding and 5-nucleotidase activity. An important paralog of this gene is NT5C3B.

UniProtKB/Swiss-Prot for NT5C3A Gene

  • Can act both as nucleotidase and as phosphotransferase

Gene Wiki entry for NT5C3A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NT5C3A Gene

Genomics for NT5C3A Gene

Genomic Location for NT5C3A Gene

Start:
33,014,113 bp from pter
End:
33,062,797 bp from pter
Size:
48,685 bases
Orientation:
Minus strand

Genomic View for NT5C3A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NT5C3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NT5C3A Gene

No data available for Regulatory Elements for NT5C3A Gene

Proteins for NT5C3A Gene

  • Protein details for NT5C3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0P0-5NT3A_HUMAN
    Recommended name:
    Cytosolic 5-nucleotidase 3A
    Protein Accession:
    Q9H0P0
    Secondary Accessions:
    • A8K253
    • B2RAA5
    • B8ZZC4
    • Q6IPZ1
    • Q6NXS6
    • Q7L3G6
    • Q9P0P5
    • Q9UC42
    • Q9UC43
    • Q9UC44
    • Q9UC45

    Protein attributes for NT5C3A Gene

    Size:
    336 amino acids
    Molecular mass:
    37948 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAF36153.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAG33630.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NT5C3A Gene

    Alternative splice isoforms for NT5C3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NT5C3A Gene

Proteomics data for NT5C3A Gene at MOPED

Post-translational modifications for NT5C3A Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys204

No data available for DME Specific Peptides for NT5C3A Gene

Domains for NT5C3A Gene

Protein Domains for NT5C3A Gene

UniProtKB/Swiss-Prot:

5NT3A_HUMAN
Family:
  • Belongs to the pyrimidine 5-nucleotidase family.:
    • Q9H0P0
genes like me logo Genes that share domains with NT5C3A: view

No data available for Gene Families for NT5C3A Gene

Function for NT5C3A Gene

Molecular function for NT5C3A Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=66 uM for CMP {ECO:0000269 PubMed:15968458};
UniProtKB/Swiss-Prot CatalyticActivity: A 5-ribonucleotide + H(2)O = a ribonucleoside + phosphate
UniProtKB/Swiss-Prot Function: Can act both as nucleotidase and as phosphotransferase
UniProtKB/Swiss-Prot Induction: Isoform 2 is induced by interferon alpha in Raji cells in association with lupus inclusions.

Enzyme Numbers (IUBMB) for NT5C3A Gene

Gene Ontology (GO) - Molecular Function for NT5C3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding NAS 11795870
GO:0008253 5-nucleotidase activity NAS 12930399
GO:0008665 2-phosphotransferase activity TAS 10942414
genes like me logo Genes that share ontologies with NT5C3A: view

miRNA for NT5C3A Gene

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for NT5C3A Gene

Localization for NT5C3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for NT5C3A Gene

Cytoplasm.
Isoform 2: Endoplasmic reticulum.

Gene Ontology (GO) - Cellular Components for NT5C3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 8557639
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IDA 8557639
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NT5C3A: view

Pathways for NT5C3A Gene

genes like me logo Genes that share pathways with NT5C3A: view

Pathways by source for NT5C3A Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for NT5C3A Gene

Interacting Proteins for NT5C3A Gene

Gene Ontology (GO) - Biological Process for NT5C3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006206 pyrimidine nucleobase metabolic process TAS --
GO:0006213 pyrimidine nucleoside metabolic process NAS 10942414
GO:0009117 nucleotide metabolic process IEA --
GO:0016311 dephosphorylation NAS 12930399
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with NT5C3A: view

Compounds for NT5C3A Gene

(6) Novoseek inferred chemical compound relationships for NT5C3A Gene

Compound -log(P) Hits PubMed IDs
pyrimidine 81.4 14
poly c 75.1 1
poly u 64.1 1
cytarabine 51.6 1
nucleoside 43.4 1
genes like me logo Genes that share compounds with NT5C3A: view

Transcripts for NT5C3A Gene

Unigene Clusters for NT5C3A Gene

5-nucleotidase, cytosolic IIIA:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NT5C3A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10 ^ 11
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - - -
SP4: - - - -
SP5: -
SP6: -
SP7: -
SP8: - -

Relevant External Links for NT5C3A Gene

GeneLoc Exon Structure for
NT5C3A
ECgene alternative splicing isoforms for
NT5C3A

Expression for NT5C3A Gene

mRNA expression in normal human tissues for NT5C3A Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NT5C3A Gene

SOURCE GeneReport for Unigene cluster for NT5C3A Gene Hs.487933

mRNA Expression by UniProt/SwissProt for NT5C3A Gene

Q9H0P0-5NT3A_HUMAN
Tissue specificity: Isoforms 1, 3 and 4 are expressed in reticulocytes. Isoform 4 is hardly detectable in bone marrow and fetal liver.
genes like me logo Genes that share expressions with NT5C3A: view

Orthologs for NT5C3A Gene

This gene was present in the common ancestor of animals.

Orthologs for NT5C3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NT5C3 36
  • 99.9 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia NT5C3 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NT5C3A 36
  • 90.63 (n)
  • 92.45 (a)
NT5C3A 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nt5c3 36
  • 86.61 (n)
  • 93.66 (a)
Nt5c3 16
Nt5c3 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NT5C3A 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NT5C3A 37
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nt5c3a 36
  • 86.57 (n)
  • 92.71 (a)
chicken
(Gallus gallus)
Aves NT5C3A 36
  • 80.35 (n)
  • 87.02 (a)
NT5C3A 37
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NT5C3A 37
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nt5c3a 36
  • 75.06 (n)
  • 79.72 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1792 36
zebrafish
(Danio rerio)
Actinopterygii nt5c3a 36
  • 73 (n)
  • 79.75 (a)
nt5c3a 37
  • 71 (a)
OneToOne
wufb30h07 36
fruit fly
(Drosophila melanogaster)
Insecta CG3362 37
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F25B5.3 37
  • 30 (a)
ManyToMany
Y10G11A.1 36
  • 50.12 (n)
  • 39.13 (a)
Y10G11A.1 37
  • 36 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8385 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3144 37
  • 50 (a)
OneToMany
Species with no ortholog for NT5C3A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)

Evolution for NT5C3A Gene

ENSEMBL:
Gene Tree for NT5C3A (if available)
TreeFam:
Gene Tree for NT5C3A (if available)

Paralogs for NT5C3A Gene

Paralogs for NT5C3A Gene

Selected SIMAP similar genes for NT5C3A Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for NT5C3A Gene

genes like me logo Genes that share paralogs with NT5C3A: view

Variants for NT5C3A Gene

Sequence variations from dbSNP and Humsavar for NT5C3A Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs1581684 -- 33,058,906(+) CATCA(C/T)TGTTT intron-variant
rs1609410 -- 33,040,023(+) CCACA(C/T)ACAGC intron-variant
rs1609543 -- 33,060,353(+) ATTCC(C/G)TATCT intron-variant
rs1881749 -- 33,059,768(+) GTCCC(A/G)TTGAT intron-variant
rs1881750 -- 33,059,782(+) ATCTC(A/G)GAAAT intron-variant

Relevant External Links for NT5C3A Gene

HapMap Linkage Disequilibrium report
NT5C3A
Human Gene Mutation Database (HGMD)
NT5C3A

No data available for Structural Variations from Database of Genomic Variants (DGV) for NT5C3A Gene

Disorders for NT5C3A Gene

(1) OMIM Diseases for NT5C3A Gene (606224)

UniProtKB/Swiss-Prot

5NT3A_HUMAN
  • P5N deficiency (P5ND) [MIM:266120]: Autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties. {ECO:0000269 PubMed:11369620, ECO:0000269 PubMed:12930399, ECO:0000269 PubMed:15238149, ECO:0000269 PubMed:15604219, ECO:0000269 PubMed:15968458, ECO:0000269 PubMed:16461318, ECO:0000269 PubMed:18499901, ECO:0000269 PubMed:25153905}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) Novoseek inferred disease relationships for NT5C3A Gene

Disease -log(P) Hits PubMed IDs
anemia hemolytic 77.7 4
hemolysis 32.7 1
genes like me logo Genes that share disorders with NT5C3A: view

Publications for NT5C3A Gene

  1. Human erythrocyte pyrimidine 5'-nucleotidase, PN-I, is identical to p36, a protein associated to lupus inclusion formation in response to alpha-interferon. (PMID: 10942414) Amici A. … Magni G. (Blood 2000) 2 3 4 23
  2. Purification, microsequencing, and immunolocalization of p36, a new interferon-alpha-induced protein that is associated with human lupus inclusions. (PMID: 8557639) Rich S.A. … Rudofsky U.H. (J. Biol. Chem. 1996) 3 4 23
  3. Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency. (PMID: 12930399) Bianchi P. … Zanella A. (Br. J. Haematol. 2003) 3 4 23
  4. Functional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemia. (PMID: 15604219) Chiarelli L.R. … Valentini G. (Blood 2005) 3 4 23
  5. Molecular basis of pyrimidine 5'-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations. (PMID: 18499901) Chiarelli L.R. … Valentini G. (Blood Cells Mol. Dis. 2008) 3 4 23

Products for NT5C3A Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate NT5C3A
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for NT5C3A
    • Block miRNA regulation of NT5C3A using miScript Target Protectors

    Sources for NT5C3A Gene

    Back to Top

    Content