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NT5C3A (5'-nucleotidase, cytosolic IIIA)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51251
Gene nameGene Name - the full gene name approved by the HGNC.
5'-nucleotidase, cytosolic IIIA
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
NT5C3A
SynonymsGene synonyms aliases
CNSHA8, NT5C3, P5'N-1, P5N-1, PN-I, POMP, PSN1, UMPH, UMPH1, cN-III, hUMP1, p36
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.3
SummarySummary of gene provided in NCBI Entrez 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 pyrimid
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs104894025 T>A Pathogenic Missense variant, coding sequence variant
rs104894026 G>A Pathogenic Coding sequence variant, stop gained
rs104894027 A>C Pathogenic Coding sequence variant, stop gained
rs104894028 T>C Pathogenic Missense variant, coding sequence variant
rs104894029 C>G Pathogenic Missense variant, intron variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT005184 hsa-miR-30a-5p pSILAC 18668040
MIRT007081 hsa-miR-122-5p Luciferase reporter assay 23055569
MIRT007081 hsa-miR-122-5p Luciferase reporter assay 23055569
MIRT005184 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT031382 hsa-miR-16-5p Proteomics 18668040
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000215 Function TRNA 2'-phosphotransferase activity NAS 9428647
GO:0000215 Function TRNA 2'-phosphotransferase activity TAS 10942414
GO:0000287 Function Magnesium ion binding NAS 11795870
GO:0005515 Function Protein binding IPI 32296183
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9H0P0
Protein name Cytosolic 5'-nucleotidase 3A (EC 3.1.3.5) (7-methylguanosine phosphate-specific 5'-nucleotidase) (7-methylguanosine nucleotidase) (EC 3.1.3.91) (Cytosolic 5'-nucleotidase 3) (Cytosolic 5'-nucleotidase III) (cN-III) (Pyrimidine 5'-nucleotidase 1) (P5'N-1)
Protein 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). {ECO:0000269|PubMed:15968458, ECO:0000269
PDB 2CN1 , 2JGA , 2VKQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05822 UMPH-1
91 → 336
Family
Sequence
Sequence length 336
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Pyrimidine metabolism
Metabolic pathways
Nucleotide metabolism 		  Pyrimidine catabolism
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia, Hemolytic, Anemia, Hemolytic, Congenital Nonspherocytic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 16672222
Hemolytic anemia Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to, Hemolytic anemia due to pyrimidine 5` nucleotidase deficiency rs104894025, rs104894026, rs397518435, rs397518436, rs104894027, rs397518437, rs104894028, rs397518438, rs104894029, rs137853583, rs137853585, rs137853586, rs137853587, rs267606851, rs267606852, rs267606853, rs137853249, rs33924146, rs104894101, rs104894102, rs137853203, rs137853204, rs137853205, rs387906582, rs387906583, rs398122379, rs1064794848, rs774419705, rs1555367318, rs1345036090, rs1586033745, rs1571436535, rs2022057 11369620, 15968458, 27604308, 15604219, 18499901, 16461318, 12930399, 25153905, 12714505, 15238149

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