RBCC Red Blood Cell Collection

5NT3A_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: NT5C3A , NT5C3, P5N1, UMPH1 , HSPC233
Protein names and data: 5NT3A_HUMAN , Cytosolic 5'-nucleotidase 3A; 3.1.3.5 , Cytosolic 5'-nucleotidase 3; Cytosolic 5'-nucleotidase III; cN-III; Pyrimidine 5'-nucleotidase 1; P5'N-1; P5N-1; PN-I; Uridine 5'-monophosphate hydrolase 1; p36 Lenght: 336 a.a.
Mass: 37948 Da
fasta formatted sequence
Function: Can act both as nucleotidase and as phosphotransferase.
Catalytic activity: A 5'-ribonucleotide + H(2)O = a ribonucleoside + phosphate.
Disease: ( OMIM: 266120 606224 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm (Potential). Isoform 2: Endoplasmic reticulum.
Tissue specificity: Isoform 1 and isoform 3 are expressed in reticulocytes and lymphocytes. Isoform 4 is expressed only in reticulocytes.

Genetic variants

137 - 137 D -> V (in P5N deficiency; may alter protein structure). VAR_023511
181 - 181 L -> P (in P5N deficiency; may alter protein structure and markedly decreases activity). VAR_023512
229 - 229 N -> S (in P5N deficiency; markedly decreases activity). VAR_023513
280 - 280 G -> R (in P5N deficiency; markedly decreases activity). VAR_023514

Database cross-references

UniProt: Q9H0P0
Ensembl: ENST00000242210
Ensembl: ENST00000381626
Ensembl: ENST00000396152
Ensembl: ENST00000405342
Ensembl: ENST00000409467
MIM: 266120
MIM: 606224
neXtProt: NX_Q9H0P0
Antibodypedia: Q9H0P0 (may not find the protein thus also not any antibody)
Local full text data: click here

Users' comments

Login to add a comment.

© Hegelab and Biomembrane 2013; Powered by TurboGears 2