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 3
  • P5N-1 3 3 4 4
  • 7-Methylguanosine Phosphate-Specific 5-Nucleotidase 3 4
  • Uridine 5-Monophosphate Hydrolase 1 3 4
  • 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
  • NT5C3 3 4
  • UMPH1 3 4
  • PN-I 3 4
  • P36 3 4
  • 5-Nucleotidase, Cytosolic IIIA 5
  • 7-Methylguanosine Nucleotidase 4
  • Cytosolic 5-Nucleotidase III 4
  • Cytosolic 5-Nucleotidase 3A 3
  • EC 3.1.3.91 4
  • EC 3.1.3.5 4
  • HUMP1 3
  • POMP 3
  • PSN1 3
  • UMPH 3
  • P5N1 4

External Ids for NT5C3A Gene

Previous HGNC Symbols for NT5C3A Gene

  • NT5C3

Previous GeneCards Identifiers for NT5C3A Gene

  • GC07M033056

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 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To and Hemolytic Anemia. 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 NT5C3B.

UniProtKB/Swiss-Prot for NT5C3A Gene

  • Nucleotidase which shows specific activity towards cytidine monophosphate (CMP) and 7-methylguanosine monophosphate (m(7)GMP) (PubMed:24603684). CMP seems to be the preferred substrate (PubMed:15968458).

Gene Wiki entry for NT5C3A Gene

Additional gene information for NT5C3A Gene

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

Genomics for NT5C3A Gene

GeneHancer (GH) Regulatory Elements for NT5C3A Gene

Promoters and enhancers for NT5C3A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J033060 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 697.4 +0.4 376 3 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 ZNF143 NT5C3A PIR46017 FKBP9 AVL9 RN7SL505P
GH07J033038 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 58.8 +21.0 21018 7.4 ATF1 FOXA2 ARNT ARID4B SIN3A YY1 TCF12 ATF7 RUNX3 RXRA KBTBD2 NT5C3A FKBP9 RP9P RP9 RN7SL505P GC07M033036
GH07J033053 Enhancer 0.9 Ensembl ENCODE 46.9 +8.1 8080 2.6 MEIS2 PKNOX1 JUN CEBPG FOSL1 ZNF316 NFE2 IKZF2 SMARCE1 SOX6 NT5C3A RN7SL505P
GH07J033049 Enhancer 0.9 Ensembl ENCODE 46.9 +12.4 12359 1.9 MEIS2 CTCF CLOCK CEBPG ZNF384 RAD21 CHAMP1 ZNF121 GATA3 ZNF316 NT5C3A RP9 RN7SL505P
GH07J033034 Enhancer 0.6 ENCODE 47.2 +28.0 27966 1.5 RXRA JUNB MAFG BATF YY1 SP1 PRDM6 NR2C1 HNF4A NFE2 RPS29P14 GC07M033036 NT5C3A RP9 RNU6-388P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NT5C3A on UCSC Golden Path with GeneCards custom track

Genomic Locations for NT5C3A Gene

Genomic Locations for NT5C3A Gene
chr7:33,014,113-33,062,797
(GRCh38/hg38)
Size:
48,685 bases
Orientation:
Minus strand
chr7:33,053,742-33,102,409
(GRCh37/hg19)
Size:
48,668 bases
Orientation:
Minus strand

Genomic View for NT5C3A Gene

Genes around NT5C3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NT5C3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NT5C3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for NT5C3A Gene

  • Ubiquitination at isoforms=4, 2, 3204
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NT5C3A Gene

Domains & Families for NT5C3A Gene

Gene Families for NT5C3A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for NT5C3A Gene

Suggested Antigen Peptide Sequences for NT5C3A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H0P0

UniProtKB/Swiss-Prot:

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

Function for NT5C3A Gene

Molecular function for NT5C3A Gene

UniProtKB/Swiss-Prot Function:
Nucleotidase which shows specific activity towards cytidine monophosphate (CMP) and 7-methylguanosine monophosphate (m(7)GMP) (PubMed:24603684). CMP seems to be the preferred substrate (PubMed:15968458).
UniProtKB/Swiss-Prot CatalyticActivity:
N(7)-methyl-GMP + H(2)O = N(7)-methyl-guanosine + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
CMP + H(2)O = cytidine + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
A 5-ribonucleotide + H(2)O = a ribonucleoside + phosphate.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=15 uM for m(7)GMP (at 37 degrees Celsius) {ECO:0000269 PubMed:24603684}; KM=66 uM for CMP {ECO:0000269 PubMed:15968458}; KM=80 uM for CMP (at 37 degrees Celsius) {ECO:0000269 PubMed:24603684};
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

Phenotypes From GWAS Catalog 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:0000215 tRNA 2-phosphotransferase activity TAS 10942414
GO:0000287 magnesium ion binding NAS 11795870
GO:0008253 5-nucleotidase activity NAS,EXP 12930399
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with NT5C3A: view
genes like me logo Genes that share phenotypes with NT5C3A: view

Human Phenotype Ontology for NT5C3A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NT5C3A

Clone Products

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

Localization for NT5C3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for NT5C3A Gene

Cytoplasm.
Isoform 2: Endoplasmic reticulum.

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 NT5C3A gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 5
mitochondrion 3
nucleus 3
plasma membrane 1
extracellular 1
golgi apparatus 1

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,IEA 8557639
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NT5C3A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NT5C3A Gene

Pathways & Interactions for NT5C3A Gene

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

Pathways by source for NT5C3A Gene

1 GeneGo (Thomson Reuters) pathway for NT5C3A Gene

Gene Ontology (GO) - Biological Process for NT5C3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006213 pyrimidine nucleoside metabolic process NAS 10942414
GO:0009117 nucleotide metabolic process IEA --
GO:0016311 dephosphorylation IEA --
GO:0046085 adenosine metabolic process IEA --
GO:0046135 pyrimidine nucleoside catabolic process TAS --
genes like me logo Genes that share ontologies with NT5C3A: view

No data available for SIGNOR curated interactions for NT5C3A Gene

Drugs & Compounds for NT5C3A Gene

(23) Drugs for NT5C3A Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytarabine Approved, Investigational Pharma 1166
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2100
Idarubicin Approved Pharma 226
Adenosine Approved, Investigational Pharma Agonist, Channel blocker 551
Inosine Approved, Investigational Pharma 0

(17) Additional Compounds for NT5C3A Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
beta-nicotinamide D-ribonucleotide
deoxyadenosine
  • (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
958-09-8
Deoxyadenosine monophosphate
  • 2'-dAMP
  • 2'-Deoxy-5'-adenosine monophosphate
  • 2'-Deoxy-AMP
  • 2'-Deoxyadenosine 5'-(dihydrogen phosphate)
  • 2'-Deoxyadenosine 5'-monophosphate
653-63-4
deoxyguanosine
  • 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
961-07-9
Nicotinamide riboside
  • 1-(beta-D-Ribofuranosyl)nicotinamide
  • beta-Nicotinamide D-riboside
  • Nicotinamide ribonucleoside
  • Nicotinamide ribose
  • Nicotinamide-beta-riboside
1341-23-7
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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NT5C3A

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for NT5C3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NT5C3A Gene

This gene is overexpressed in Cervix (25.1), Tonsil (12.4), and Peripheral blood mononuclear cells (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NT5C3A Gene



Protein tissue co-expression partners for NT5C3A Gene

NURSA nuclear receptor signaling pathways regulating expression of NT5C3A Gene:

NT5C3A

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.

Evidence on tissue expression from TISSUES for NT5C3A Gene

  • Nervous system(4.9)
  • Lung(4.6)
  • Muscle(4.6)
  • Blood(4.3)
  • Kidney(4.2)
  • Pancreas(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NT5C3A Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
  • urinary
Regions:
Abdomen:
  • kidney
General:
  • blood
  • red blood cell
genes like me logo Genes that share expression patterns with NT5C3A: view

No data available for mRNA differential expression in normal tissues for NT5C3A Gene

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 33
  • 99.9 (n)
dog
(Canis familiaris)
Mammalia NT5C3A 34 33
  • 90.63 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NT5C3A 34
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NT5C3 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nt5c3 16 34 33
  • 86.61 (n)
rat
(Rattus norvegicus)
Mammalia Nt5c3a 33
  • 86.57 (n)
oppossum
(Monodelphis domestica)
Mammalia NT5C3A 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves NT5C3A 34 33
  • 80.35 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NT5C3A 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nt5c3a 33
  • 75.06 (n)
zebrafish
(Danio rerio)
Actinopterygii nt5c3a 34 33
  • 73 (n)
OneToOne
wufb30h07 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1792 33
fruit fly
(Drosophila melanogaster)
Insecta CG3362 34
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y10G11A.1 34 33
  • 50.12 (n)
ManyToMany
F25B5.3 34
  • 30 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3144 34
  • 50 (a)
OneToMany
Cin.8385 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8385 33
Species where no ortholog for NT5C3A was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NT5C3A: view image

Paralogs for NT5C3A Gene

Paralogs for NT5C3A Gene

(1) SIMAP similar genes for NT5C3A Gene using alignment to 4 proteins:

  • 5NT3A_HUMAN
  • B9A035_HUMAN
  • C9K084_HUMAN
  • F8WDR0_HUMAN

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 Variation AA Info Type
rs104894025 pathogenic, Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to, P5N deficiency (P5ND) [MIM:266120] 33,021,317(-) T/A coding_sequence_variant, missense_variant
rs104894026 pathogenic, Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to 33,017,501(-) G/A coding_sequence_variant, stop_gained
rs104894027 pathogenic, Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to 33,017,487(-) A/C coding_sequence_variant, stop_gained
rs104894028 pathogenic, Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to, P5N deficiency (P5ND) [MIM:266120] 33,017,461(-) T/C coding_sequence_variant, missense_variant
rs104894029 pathogenic, Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to, P5N deficiency (P5ND) [MIM:266120] 33,015,741(-) C/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for NT5C3A Gene

Variant ID Type Subtype PubMed ID
dgv1080e201 CNV deletion 23290073
esv2664735 CNV deletion 23128226
esv2734229 CNV deletion 23290073
esv3612750 OTHER inversion 21293372
nsv1029220 CNV gain 25217958
nsv1117706 CNV deletion 24896259
nsv1135982 CNV deletion 24896259
nsv436907 CNV insertion 17901297
nsv524383 CNV loss 19592680
nsv830942 CNV gain 17160897

Variation tolerance for NT5C3A Gene

Residual Variation Intolerance Score: 19.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.91; 35.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NT5C3A Gene

Human Gene Mutation Database (HGMD)
NT5C3A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NT5C3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NT5C3A Gene

Disorders for NT5C3A Gene

MalaCards: The human disease database

(13) MalaCards diseases for NT5C3A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
  • hemolytic anemia due to umph1 deficiency
hemolytic anemia
  • anemia hemolytic
cavernous sinus meningioma
  • meningioma of the cavernous sinus
petroclival meningioma
tolosa-hunt syndrome
  • tolosa hunt syndrome
- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for NT5C3A

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

No data available for Genatlas for NT5C3A Gene

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 22 58
  2. 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 LR … Valentini G (Blood cells, molecules & diseases 2008) 3 4 22 58
  3. Functional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemia. (PMID: 15604219) Chiarelli LR … Valentini G (Blood 2005) 3 4 22 58
  4. Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency. (PMID: 12930399) Bianchi P … Zanella A (British journal of haematology 2003) 3 4 22 58
  5. Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency. (PMID: 11369620) Marinaki AM … Rees DC (Blood 2001) 3 4 22 58

Products for NT5C3A Gene

Sources for NT5C3A Gene

Content
Loading form....