NT5C3

NT5C3A
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNT5C3A, NT5C3, P5'N-1, P5N-1, PN-I, POMP, PSN1, UMPH, UMPH1, cN-III, hUMP1, p36, 5'-nucleotidase, cytosolic IIIA
External IDsOMIM: 606224; MGI: 1927186; HomoloGene: 9534; GeneCards: NT5C3A; OMA:NT5C3A - orthologs
EC number3.1.3.91
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001002009
NM_001002010
NM_001166118
NM_016489
NM_001356996

NM_001252374
NM_026004
NM_001360963

RefSeq (protein)

NP_001239303
NP_080280
NP_001347892

Location (UCSC)Chr 7: 33.01 – 33.06 MbChr 6: 56.86 – 56.9 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cytosolic 5'-nucleotidase 3 (NTC53), also known as cytosolic 5'-nucleotidase 3A, pyrimidine 5’-nucleotidase (PN-I or P5'NI), and p56, is an enzyme that in humans is encoded by the NT5C3, or NT5C3A, gene on chromosome 7.[5][6][7][8]

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. [provided by RefSeq, Mar 2012][7]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000122643Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029780Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, Fu G, Shen Y, Fan HY, Lu G, Zhong M, Xu XR, Han ZG, Zhang JW, Tao J, Huang QH, Zhou J, Hu GX, Gu J, Chen SJ, Chen Z (Nov 2000). "Cloning and Functional Analysis of cDNAs with Open Reading Frames for 300 Previously Undefined Genes Expressed in CD34+ Hematopoietic Stem/Progenitor Cells". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.
  6. ^ Amici A, Emanuelli M, Raffaelli N, Ruggieri S, Saccucci F, Magni G (Sep 2000). "Human erythrocyte pyrimidine 5-nucleotidase, PN-I, is identical to p36, a protein associated to lupus inclusion formation in response to alpha-interferon". Blood. 96 (4): 1596–8. doi:10.1182/blood.V96.4.1596. PMID 10942414.
  7. ^ a b "Entrez Gene: NT5C3 5'-nucleotidase, cytosolic III".
  8. ^ Amici A, Magni G (15 January 2002). "Human erythrocyte pyrimidine 5'-nucleotidase, PN-I". Archives of Biochemistry and Biophysics. 397 (2): 184–90. doi:10.1006/abbi.2001.2676. PMID 11795870.