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Comments and Description Text from UniProtKB
ID:5NT3_HUMAN DESCRIPTION: RecName: Full=Cytosolic 5'-nucleotidase 3; EC=3.1.3.5; AltName: Full=Cytosolic 5'-nucleotidase III; Short=cN-III; AltName: Full=Pyrimidine 5'-nucleotidase 1; Short=P5'N-1; Short=P5N-1; Short=PN-I; AltName: Full=Uridine 5'-monophosphate hydrolase 1; AltName: Full=p36; FUNCTION: Can act both as nucleotidase and as phosphotransferase. CATALYTIC ACTIVITY: A 5'-ribonucleotide + H(2)O = a ribonucleoside + phosphate. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=66 uM for CMP; SUBUNIT: Monomer. SUBCELLULAR LOCATION: Cytoplasm (Potential). SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum. TISSUE SPECIFICITY: Isoform 1 and isoform 3 are expressed in reticulocytes and lymphocytes. Isoform 4 is expressed only in reticulocytes. INDUCTION: Isoform 2 is induced by interferon alpha in Raji cells in association with lupus inclusions. DISEASE: Defects in NT5C3 are the cause of P5N deficiency (P5ND) [MIM:266120]; also called hemolytic anemia due to P5N deficiency or hemolytic anemia due to UMPH1 deficiency. P5ND is an autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stipplig 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. SIMILARITY: Belongs to the pyrimidine 5'-nucleotidase family. SEQUENCE CAUTION: Sequence=AAF36153.1; Type=Erroneous initiation; Sequence=AAG33630.1; Type=Frameshift; Positions=Several;
Protein Domain and Structure Information
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