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Aliases for NT5C3A Gene

Aliases for NT5C3A Gene

  • 5'-Nucleotidase, Cytosolic IIIA 2
  • 5-Nucleotidase, Cytosolic IIIA 2 3 5
  • 7-Methylguanosine Phosphate-Specific 5-Nucleotidase 3 4
  • Uridine 5-Monophosphate Hydrolase 1 3 4
  • 7-Methylguanosine Nucleotidase 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
  • P5N-1 3 4
  • UMPH1 3 4
  • PN-I 3 4
  • P36 3 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 Anemia, Hemolytic, Due To Umph1 Deficiency and Hemolytic Anemia Due To Pyrimidine 5' Nucleotidase Deficiency. Among its related pathways are Purine 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

  • 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

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

Genomics for NT5C3A Gene

Regulatory Elements for NT5C3A Gene

Enhancers for NT5C3A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NT5C3A on UCSC Golden Path with GeneCards custom track

Promoters for NT5C3A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NT5C3A on UCSC Golden Path with GeneCards custom track

Genomic Location for NT5C3A Gene

Chromosome:
7
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

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

Proteomics data for NT5C3A Gene at MOPED

Post-translational modifications for NT5C3A Gene

  • Ubiquitination at Lys 204
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for NT5C3
  • Cloud-Clone Corp. Antibodies for NT5C3A

No data available for DME Specific Peptides for NT5C3A Gene

Domains & Families for NT5C3A Gene

Gene Families for NT5C3A Gene

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 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 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 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 Induction:
Isoform 2 is induced by interferon alpha in Raji cells in association with lupus inclusions.

Enzyme Numbers (IUBMB) for NT5C3A Gene

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

No data available for Gene Ontology (GO) - Molecular Function , 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.

Gene Ontology (GO) - Cellular Components for NT5C3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with NT5C3A: view

No data available for Subcellular locations from COMPARTMENTS 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

Interacting Proteins for NT5C3A Gene

Gene Ontology (GO) - Biological Process for NT5C3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046085 adenosine metabolic process IEA --
GO:0046135 pyrimidine nucleoside catabolic process TAS --
GO:0055086 nucleobase-containing small molecule metabolic 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytarabine Approved, Investigational Pharma 1054
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 1898
Idarubicin Approved Pharma 202
Adenosine Approved, Investigational Pharma Agonist 384
Adenosine monophosphate Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
beta-nicotinamide D-ribonucleotide
Cytidine monophosphate
  • 5'-CMP
  • 5-Cytidylate
  • 5-Cytidylic acid
  • CMP
  • Cytidine 5'-monophosphate
63-37-6
deoxyadenosine
  • 1-(6-Amino-9H-purin-9-yl)-1,2-dideoxy-b-D-Ribofuranose
  • 1-(6-Amino-9H-purin-9-yl)-1,2-dideoxy-beta-D-Ribofuranose
  • 1-(6-Amino-9H-purin-9-yl)-1,2-dideoxy-beta-delta-Ribofuranose
  • 2'-Deoxyadenosine
  • 2-Deoxyadenosine
958-09-8
Deoxyadenosine monophosphate
  • 2'-dAMP
  • 2'-Deoxy-5'-adenylate
  • 2'-Deoxy-5'-adenylic acid
  • 2'-Deoxy-Adenosine 5'-phosphorate
  • 2'-Deoxy-Adenosine 5'-phosphoric acid
653-63-4
deoxyguanosine
  • 2'-Deoxy-Guanosine
  • 2'-Deoxyguanosine
  • 2-Deoxyguanosine
  • 9-(2-Deoxy-b-D-erythro-pentofuranosyl)-Guanine
  • 9-(2-Deoxy-b-D-erythro-pentofuranosyl)guanine
961-07-9
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

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, 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 expression patterns with NT5C3A: view

Protein tissue co-expression partners for NT5C3A Gene

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
dog
(Canis familiaris)
Mammalia NT5C3A 35
  • 90.63 (n)
  • 92.45 (a)
NT5C3A 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nt5c3 35
  • 86.61 (n)
  • 93.66 (a)
Nt5c3 16
Nt5c3 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NT5C3 35
  • 99.9 (n)
  • 100 (a)
rat
(Rattus norvegicus)
Mammalia Nt5c3a 35
  • 86.57 (n)
  • 92.71 (a)
cow
(Bos Taurus)
Mammalia NT5C3 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NT5C3A 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NT5C3A 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves NT5C3A 35
  • 80.35 (n)
  • 87.02 (a)
NT5C3A 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NT5C3A 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nt5c3a 35
  • 75.06 (n)
  • 79.72 (a)
zebrafish
(Danio rerio)
Actinopterygii nt5c3a 35
  • 73 (n)
  • 79.75 (a)
wufb30h07 35
nt5c3a 36
  • 71 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1792 35
fruit fly
(Drosophila melanogaster)
Insecta CG3362 36
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y10G11A.1 35
  • 50.12 (n)
  • 39.13 (a)
F25B5.3 36
  • 30 (a)
ManyToMany
Y10G11A.1 36
  • 36 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8385 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3144 36
  • 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

(1) 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
VAR_023511 P5N deficiency (P5ND)
VAR_023512 P5N deficiency (P5ND)
VAR_023513 P5N deficiency (P5ND)
VAR_023514 P5N deficiency (P5ND)
VAR_073160 P5N deficiency (P5ND)

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)

Relevant External Links for NT5C3A Gene

Human Gene Mutation Database (HGMD)
NT5C3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NT5C3A Gene

Disorders for NT5C3A Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
anemia, hemolytic, due to umph1 deficiency
  • hemolytic anemia due to umph1 deficiency
hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
  • p5n deficiency
hemolytic anemia
  • anemia hemolytic
cavernous sinus meningioma
  • meningioma of the cavernous sinus
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.

Relevant External Links for NT5C3A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 67
  2. Cytosolic 5'-nucleotidase III (NT5C3): gene sequence variation and functional genomics. (PMID: 19623099) Aksoy P. … Wang L. (Pharmacogenet. Genomics 2009) 3 23
  3. 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 23
  4. Functional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemia. (PMID: 15604219) Chiarelli L.R. … Valentini G. (Blood 2005) 3 23
  5. Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency. (PMID: 12930399) Bianchi P. … Zanella A. (Br. J. Haematol. 2003) 3 23

Products for NT5C3A Gene

Sources for NT5C3A Gene

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