NT5C3A

Protein identityUniProt · HPA

UniProt accession

Q9H0P0

Gene

NT5C3A

Ensembl

ENSG00000122643

Chromosome

7

Canonical length

336 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nuclear bodies,Endoplasmic reticulum,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

336 residues, UniProt reviewed canonical sequence.

>Q9H0P0|NT5C3A
     1  MRAPSMDRAA VARVGAVASA SVCALVAGVV LAQYIFTLKR KTGRKTKIIE MMPEFQKSSV
    61  RIKNPTRVEE IICGLIKGGA AKLQIITDFD MTLSRFSYKG KRCPTCHNII DNCKLVTDEC
   121  RKKLLQLKEK YYAIEVDPVL TVEEKYPYMV EWYTKSHGLL VQQALPKAKL KEIVAESDVM
   181  LKEGYENFFD KLQQHSIPVF IFSAGIGDVL EEVIRQAGVY HPNVKVVSNF MDFDETGVLK
   241  GFKGELIHVF NKHDGALRNT EYFNQLKDNS NIILLGDSQG DLRMADGVAN VEHILKIGYL
   301  NDRVDELLEK YMDSYDIVLV QDESLEVANS ILQKIL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NT5C3A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

83 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NT5C3A.

Disease | AllUniProt

Conditions NT5C3A is implicated in, by any mechanism.

• P5N deficiency (P5ND) MIM:266120

Disease | GeneticClinVar

19 pathogenic / likely-pathogenic of 174 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.7

gnomAD pLI

0.02

gnomAD missense Z

0.25

DepMap mean gene effect

-0.11

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• CMP catabolic process
• dCMP catabolic process
• defense response to virus
• dTMP catabolic process
• dUMP catabolic process
• pyrimidine nucleoside metabolic process
• UMP catabolic process

Molecular functions

• 5'-nucleotidase activity
• magnesium ion binding
• nucleotide binding
• tRNA 2'-phosphotransferase activity

Cellular components

• cytoplasm
• cytosol
• endoplasmic reticulum
• mitochondrion
• nuclear body
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• Pyrimidine 5'-nucleotidase, eukaryotic
• HAD superfamily
• HAD-like superfamily
• Pyrimidine 5'-nucleotidase (UMPH-1)

KeywordsUniProt

• Cytoplasm
• Endoplasmic reticulum
• Hydrolase
• Magnesium
• Metal-binding
• Nucleotide metabolism
• Nucleotide-binding
• Phosphoprotein
• Transferase