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 ... See more...

Aliases for NT5C3A Gene

Aliases for NT5C3A Gene

  • 5'-Nucleotidase, Cytosolic IIIA 2 3 5
  • 7-Methylguanosine Phosphate-Specific 5'-Nucleotidase 3 4
  • Uridine 5'-Monophosphate Hydrolase 1 3 4
  • 5'-Nucleotidase, Cytosolic III 2 3
  • Cytosolic 5'-Nucleotidase 3A 3 4
  • Pyrimidine 5'-Nucleotidase 1 3 4
  • Cytosolic 5'-Nucleotidase 3 3 4
  • P5'N-1 3 4
  • CN-III 3 4
  • Lupin 2 3
  • NT5C3 3 4
  • P5N-1 3 4
  • UMPH1 3 4
  • PN-I 3 4
  • P36 3 4
  • 7-Methylguanosine Nucleotidase 4
  • Cytosolic 5'-Nucleotidase III 4
  • 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 Metabolism of nucleotides. 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 Summary 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 , Rfam classification 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 CraniofacialAtlas 547.4 +0.4 397 3.6 ZNF217 EP300 NRF1 POLR2G NCOR1 PHF8 SIX5 ZFX REST POLR2A NT5C3A lnc-BBS9-3 piR-52018-001 FKBP9 RF00017-6107 RN7SL505P lnc-RP9-4
GH07J033038 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 58.8 +21.0 21018 7.4 ZSCAN5C SIN3A NCOR1 GTF2E2 CTCF POLR2A KDM6A RFX1 RELA FOXA2 lnc-RP9-6 KBTBD2 NT5C3A FKBP9 RP9P RP9 RF00017-6106
GH07J033049 Promoter/Enhancer 1 Ensembl ENCODE 46.9 +12.6 12558 1.5 CTCF ZSCAN5C REST RAD21 TRIM22 SMC3 ZNF316 CEBPB SMARCA5 GATA3 NT5C3A RP9 RN7SL505P RF00017-6107 lnc-RP9-4
GH07J033053 Enhancer 0.7 ENCODE 47 +8.1 8080 2.6 ZNF316 GABPA CEBPG PBX2 NFE2 FOSL1 FOS JUND MAFG GATA2 NT5C3A RN7SL505P RF00017-6107 lnc-RP9-4
GH07J033034 Enhancer 0.6 ENCODE 47.2 +28.0 27966 1.5 NFE2 BATF MAFK MAFG PRDM6 RXRA JUNB HNF4A TCF7 NFE2L2 RPS29P14 lnc-RP9-5 NT5C3A RP9 lnc-RP9-6 piR-57135-060
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NT5C3A

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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAG33630.1; Type=Frameshift; 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 Lys243
  • 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

Protein Domains for NT5C3A Gene

Blocks:
  • Bacterial regulatory protein LysR, HTH motif
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NT5C3A Gene

GenScript: Design optimal peptide antigens:
  • p36 (5NT3_HUMAN)

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:
Reaction=7-methyl-GMP + H2O = N(7)-methylguanosine + phosphate; Xref=Rhea:RHEA:37107, ChEBI:CHEBI:15377, ChEBI:CHEBI:20794, ChEBI:CHEBI:43474, ChEBI:CHEBI:58285; EC=3.1.3.91; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=CMP + H2O = cytidine + phosphate; Xref=Rhea:RHEA:29367, ChEBI:CHEBI:15377, ChEBI:CHEBI:17562, ChEBI:CHEBI:43474, ChEBI:CHEBI:60377; EC=3.1.3.91; Evidence=. ;.
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=3.1.3.5; Evidence=. ;.
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 IBA,NAS 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
nucleus 3
extracellular 2
mitochondrion 2
plasma membrane 1
cytoskeleton 1
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for NT5C3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA 8557639
GO:0005783 endoplasmic reticulum IEA,IDA 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
  • NAD metabolism

Interacting Proteins 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytarabine Approved, Experimental, Investigational Pharma 1324
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2377
Idarubicin Approved Pharma 254
Adenosine Approved, Investigational Pharma Agonist, Channel blocker 642
Magnesium Approved, Experimental, Investigational Pharma 0

(15) 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 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
1094-61-7
genes like me logo Genes that share compounds with NT5C3A: view

Transcripts for NT5C3A Gene

mRNA/cDNA for NT5C3A Gene

10 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for NT5C3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30
  • 99.9 (n)
dog
(Canis familiaris)
Mammalia NT5C3A 31 30
  • 90.63 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NT5C3A 31
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NT5C3 31
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nt5c3 17 31 30
  • 86.61 (n)
rat
(Rattus norvegicus)
Mammalia Nt5c3a 30
  • 86.57 (n)
oppossum
(Monodelphis domestica)
Mammalia NT5C3A 31
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves NT5C3A 31 30
  • 80.35 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NT5C3A 31
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nt5c3a 30
  • 75.06 (n)
zebrafish
(Danio rerio)
Actinopterygii nt5c3a 31 30
  • 73 (n)
OneToOne
wufb30h07 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1792 30
fruit fly
(Drosophila melanogaster)
Insecta CG3362 31
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y10G11A.1 31 30
  • 50.12 (n)
ManyToMany
F25B5.3 31
  • 30 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3144 31
  • 50 (a)
OneToMany
Cin.8385 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8385 30
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NT5C3A Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
780675 Benign: not provided 33,015,703(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
785212 Benign: not provided 33,021,304(-) A/G SYNONYMOUS_VARIANT
810083 Likely Pathogenic: not provided 33,014,833(-) T/C SPLICE_ACCEPTOR_VARIANT
811287 Uncertain Significance: Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to 33,017,446(-) T/A MISSENSE_VARIANT
811355 Uncertain Significance: Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to 33,021,306(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NT5C3A Gene

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

(49) MalaCards diseases for NT5C3A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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
cranial nerve palsy
  • cranial nerve paralysis
hypertropia
petroclival meningioma
- 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 23 54
  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 23 54
  3. Functional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemia. (PMID: 15604219) Chiarelli LR … Valentini G (Blood 2005) 3 4 23 54
  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 23 54
  5. Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency. (PMID: 11369620) Marinaki AM … Rees DC (Blood 2001) 3 4 23 54

Products for NT5C3A Gene

Sources for NT5C3A Gene