Recombinant Human Cytosolic 5′-nucleotidase 3 (NT5C3)

Uniprot Id

Q9H0P0

Target Species

Human

Target Name

NT5C3A

Target Full Name

Cytosolic 5'-nucleotidase 3A

Target Function

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

Target Involvement

P5N deficiency (P5ND)

Target Subcellular Location

Cytoplasm.; [Isoform 2]: Endoplasmic reticulum.

Target Protein Families

Pyrimidine 5'-nucleotidase family

Target Tissue Specificity

Isoforms 1, 3 and 4 are expressed in reticulocytes. Isoform 4 is hardly detectable in bone marrow and fetal liver.

Target Synonyms

5NT3A_HUMAN; cN III ; cN-III; cNIII ; Cytosolic 5' nucleotidase 3; Cytosolic 5' nucleotidase III; Cytosolic 5''-nucleotidase 3; Cytosolic 5''-nucleotidase 3A; Cytosolic 5''-nucleotidase III; NT5C3; Nt5c3a; p36; P5''N-1; P5'N 1 ; P5'N1 ; P5N 1 ; P5N-1; P5N1 ; PN I ; PN-I; PNI ; PSN1 ; Pyrimidine 5' nucleotidase 1; Pyrimidine 5''-nucleotidase 1; UMPH ; UMPH1 ; Uridine 5' monophosphate hydrolase 1; Uridine 5''-monophosphate hydrolase 1

Target Background

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.