Human Gene NT5C3A (ENST00000405342.5) Description and Page Index

Description: Homo sapiens 5'-nucleotidase, cytosolic IIIA (NT5C3A), transcript variant 10, mRNA. (from RefSeq NM_001374339)
Gencode Transcript: ENST00000405342.5
Gencode Gene: ENSG00000122643.22
Transcript (Including UTRs)
Position: hg38 chr7:33,014,114-33,062,797 Size: 48,684 Total Exon Count: 10 Strand: -
Coding Region
Position: hg38 chr7:33,014,730-33,035,969 Size: 21,240 Coding Exon Count: 9

Page Index

Sequence and Links

UniProtKB Comments

Protein Structure

Other Names

Methods

Data last updated at UCSC: 2021-06-20 19:51:40

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

InterPro Domains: Graphical view of domain structure
IPR023214 - HAD-like_dom
IPR006434 - Pyrimidine_nucleotidase_eu

Pfam Domains:
PF05822 - Pyrimidine 5'-nucleotidase (UMPH-1)

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2CN1 - X-ray

2JGA - X-ray

2VKQ - X-ray

ModBase Predicted Comparative 3D Structure on Q9H0P0


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