Human Gene NT5C2 (ENST00000404739.8_6) from GENCODE V47lift37
  Description: 5'-nucleotidase, cytosolic II, transcript variant 1 (from RefSeq NM_012229.5)
Gencode Transcript: ENST00000404739.8_6
Gencode Gene: ENSG00000076685.19_14
Transcript (Including UTRs)
   Position: hg19 chr10:104,847,795-104,953,029 Size: 105,235 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr10:104,849,429-104,934,715 Size: 85,287 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:104,847,795-104,953,029)mRNA (may differ from genome)Protein (561 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: 5NTC_HUMAN
DESCRIPTION: RecName: Full=Cytosolic purine 5'-nucleotidase; EC=3.1.3.5; AltName: Full=Cytosolic 5'-nucleotidase II;
FUNCTION: May have a critical role in the maintenance of a constant composition of intracellular purine/pyrimidine nucleotides in cooperation with other nucleotidases. Preferentially hydrolyzes inosine 5'-monophosphate (IMP) and other purine nucleotides.
CATALYTIC ACTIVITY: A 5'-ribonucleotide + H(2)O = a ribonucleoside + phosphate.
COFACTOR: Binds 1 magnesium ion per subunit.
ENZYME REGULATION: Allosterically activated by various compounds, including ATP.
SUBUNIT: Homotetramer.
INTERACTION: P51116:FXR2; NbExp=3; IntAct=EBI-742084, EBI-740459; Q86TA1:MOB3B; NbExp=3; IntAct=EBI-742084, EBI-751703; Q6ZVK8:NUDT18; NbExp=3; IntAct=EBI-742084, EBI-740486;
SUBCELLULAR LOCATION: Cytoplasm.
SIMILARITY: Belongs to the 5'(3')-deoxyribonucleotidase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NT5C2
Diseases sorted by gene-association score: spastic paraplegia 45, autosomal recessive* (1277), spastic paraplegia 45* (519), sphenoid sinusitis (11), orbital cellulitis (9), acute orbital inflammation (9), acute cholangitis (7), crigler-najjar syndrome, type i (6), dental pulp necrosis (5), lymphoblastic leukemia (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.39 RPKM in Thyroid
Total median expression: 559.01 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -65.20205-0.318 Picture PostScript Text
3' UTR -451.801634-0.276 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023214 - HAD-like_dom
IPR008380 - HAD-SF_hydro_IG_5-nucl
IPR016695 - Pur_nucleotidase

Pfam Domains:
PF05761 - 5' nucleotidase family

SCOP Domains:
46934 - UBA-like
56784 - HAD-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2J2C - X-ray MuPIT 2JC9 - X-ray MuPIT 2JCM - X-ray MuPIT 2XCV - X-ray MuPIT 2XCW - X-ray MuPIT 2XCX - X-ray MuPIT 2XJB - X-ray MuPIT 2XJC - X-ray MuPIT 2XJD - X-ray MuPIT 2XJE - X-ray MuPIT 2XJF - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P49902
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003824 catalytic activity
GO:0005515 protein binding
GO:0008253 5'-nucleotidase activity
GO:0016787 hydrolase activity
GO:0046872 metal ion binding
GO:0050146 nucleoside phosphotransferase activity

Biological Process:
GO:0006195 purine nucleotide catabolic process
GO:0008152 metabolic process
GO:0009117 nucleotide metabolic process
GO:0016310 phosphorylation
GO:0016311 dephosphorylation
GO:0017144 drug metabolic process
GO:0046040 IMP metabolic process
GO:0046085 adenosine metabolic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC001595 - Homo sapiens 5'-nucleotidase, cytosolic II, mRNA (cDNA clone MGC:1109 IMAGE:3543103), complete cds.
GQ891537 - Homo sapiens clone HEL-S-258 epididymis secretory sperm binding protein mRNA, complete cds.
BX648078 - Homo sapiens mRNA; cDNA DKFZp686H0227 (from clone DKFZp686H0227).
D38524 - Homo sapiens mRNA for 5'-nucleotidase, complete cds.
AK127670 - Homo sapiens cDNA FLJ45768 fis, clone NETRP2000961, highly similar to Cytosolic purine 5'-nucleotidase (EC 3.1.3.5).
AK291667 - Homo sapiens cDNA FLJ75877 complete cds, highly similar to Homo sapiens 5'-nucleotidase, cytosolic II (NT5C2), mRNA.
AK295593 - Homo sapiens cDNA FLJ53335 complete cds, highly similar to Cytosolic purine 5'-nucleotidase (EC 3.1.3.5).
AK312517 - Homo sapiens cDNA, FLJ92882.
DQ892526 - Synthetic construct clone IMAGE:100005156; FLH187177.01X; RZPDo839E0772D 5'-nucleotidase, cytosolic II (NT5C2) gene, encodes complete protein.
DQ895738 - Synthetic construct Homo sapiens clone IMAGE:100010198; FLH187173.01L; RZPDo839E0762D 5'-nucleotidase, cytosolic II (NT5C2) gene, encodes complete protein.
JD447052 - Sequence 428076 from Patent EP1572962.
JD252727 - Sequence 233751 from Patent EP1572962.
JD047787 - Sequence 28811 from Patent EP1572962.
JD223957 - Sequence 204981 from Patent EP1572962.
JD455090 - Sequence 436114 from Patent EP1572962.
JD144727 - Sequence 125751 from Patent EP1572962.
JD417692 - Sequence 398716 from Patent EP1572962.
JD288957 - Sequence 269981 from Patent EP1572962.
JD482065 - Sequence 463089 from Patent EP1572962.
JD179682 - Sequence 160706 from Patent EP1572962.
JD561339 - Sequence 542363 from Patent EP1572962.
JD179681 - Sequence 160705 from Patent EP1572962.
JD481346 - Sequence 462370 from Patent EP1572962.
JD100755 - Sequence 81779 from Patent EP1572962.
JD118655 - Sequence 99679 from Patent EP1572962.
JD452353 - Sequence 433377 from Patent EP1572962.
JD048093 - Sequence 29117 from Patent EP1572962.
JD315130 - Sequence 296154 from Patent EP1572962.
JD369736 - Sequence 350760 from Patent EP1572962.
JD543378 - Sequence 524402 from Patent EP1572962.
JD311154 - Sequence 292178 from Patent EP1572962.
JD084313 - Sequence 65337 from Patent EP1572962.
JD147856 - Sequence 128880 from Patent EP1572962.
JD082755 - Sequence 63779 from Patent EP1572962.
JD540103 - Sequence 521127 from Patent EP1572962.
JD084823 - Sequence 65847 from Patent EP1572962.
DQ570093 - Homo sapiens piRNA piR-30205, complete sequence.
JD056758 - Sequence 37782 from Patent EP1572962.
JD090062 - Sequence 71086 from Patent EP1572962.
JD478788 - Sequence 459812 from Patent EP1572962.
JD502324 - Sequence 483348 from Patent EP1572962.
AK128678 - Homo sapiens cDNA FLJ46842 fis, clone UTERU3000959.
DQ599912 - Homo sapiens piRNA piR-37978, complete sequence.
CU674776 - Synthetic construct Homo sapiens gateway clone IMAGE:100020375 5' read NT5C2 mRNA.
JD254793 - Sequence 235817 from Patent EP1572962.
JD254792 - Sequence 235816 from Patent EP1572962.
JD157185 - Sequence 138209 from Patent EP1572962.
JD423955 - Sequence 404979 from Patent EP1572962.
JD419648 - Sequence 400672 from Patent EP1572962.
JD465483 - Sequence 446507 from Patent EP1572962.
JD140561 - Sequence 121585 from Patent EP1572962.
JD289192 - Sequence 270216 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5695 - inosine 5'-phosphate degradation
PWY-6353 - purine nucleotides degradation
PWY-6608 - guanosine nucleotides degradation
PWY-7185 - UTP and CTP dephosphorylation I
SALVADEHYPOX-PWY - adenosine nucleotides degradation

Reactome (by CSHL, EBI, and GO)

Protein P49902 (Reactome details) participates in the following event(s):

R-HSA-74248 (d)GMP or (d)IMP + H2O => (2'-deoxy)guanosine or (2'-deoxy)inosine + orthophosphate (NT5C2)
R-HSA-2162066 carbovir + IMP => carbovir monophosphate + inosine
R-HSA-74259 Purine catabolism
R-HSA-2161541 Abacavir metabolism
R-HSA-8956319 Nucleobase catabolism
R-HSA-2161522 Abacavir transport and metabolism
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: 5NTC_HUMAN, B7Z382, D3DR91, ENST00000404739.1, ENST00000404739.2, ENST00000404739.3, ENST00000404739.4, ENST00000404739.5, ENST00000404739.6, ENST00000404739.7, NM_012229, NT5B, NT5C2 , NT5CP, P49902, PNT5, Q5JUV5, uc319ctc.1, uc319ctc.2
UCSC ID: ENST00000404739.8_6
RefSeq Accession: NM_001351169.2
Protein: P49902 (aka 5NTC_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene NT5C2:
hsp (Hereditary Spastic Paraplegia Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.