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Protein

Cytosolic purine 5'-nucleotidase

Gene

NT5C2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 activityi

A 5'-ribonucleotide + H2O = a ribonucleoside + phosphate.

Cofactori

Mg2+Note: Binds 1 Mg2+ ion per subunit.

Enzyme regulationi

Allosterically activated by various compounds, including ATP.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei52Nucleophile1
Metal bindingi52Magnesium1
Active sitei54Proton donor1
Metal bindingi54Magnesium; via carbonyl oxygen1
Binding sitei127Allosteric activator 11
Binding sitei154Allosteric activator 21
Metal bindingi351Magnesium1
Binding sitei354Allosteric activator 21
Binding sitei436Allosteric activator 1; via carbonyl oxygen1
Binding sitei453Allosteric activator 21

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Nucleotide metabolism

Keywords - Ligandi

Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS01216-MONOMER.
ZFISH:HS01216-MONOMER.
BRENDAi3.1.3.5. 2681.
ReactomeiR-HSA-2161541. Abacavir metabolism.
R-HSA-74259. Purine catabolism.
SABIO-RKP49902.

Names & Taxonomyi

Protein namesi
Recommended name:
Cytosolic purine 5'-nucleotidase (EC:3.1.3.5)
Alternative name(s):
Cytosolic 5'-nucleotidase II
Gene namesi
Name:NT5C2
Synonyms:NT5B, NT5CP, PNT5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:8022. NT5C2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 45, autosomal recessive (SPG45)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG45 patients manifest mental retardation, contractures and learning disability.
See also OMIM:613162

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNETi22978.
MalaCardsiNT5C2.
MIMi613162. phenotype.
OpenTargetsiENSG00000076685.
Orphaneti320396. Autosomal recessive spastic paraplegia type 45.
PharmGKBiPA31801.

Chemistry databases

DrugBankiDB00171. Adenosine triphosphate.
DB00811. Ribavirin.

Polymorphism and mutation databases

BioMutaiNT5C2.
DMDMi1703012.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000643891 – 561Cytosolic purine 5'-nucleotidaseAdd BLAST561

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei418PhosphoserineCombined sources1
Modified residuei502PhosphoserineCombined sources1
Modified residuei511PhosphoserineCombined sources1
Modified residuei527PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP49902.
MaxQBiP49902.
PaxDbiP49902.
PeptideAtlasiP49902.
PRIDEiP49902.
TopDownProteomicsiP49902-1. [P49902-1]

PTM databases

DEPODiP49902.
iPTMnetiP49902.
PhosphoSitePlusiP49902.

Expressioni

Gene expression databases

BgeeiENSG00000076685.
CleanExiHS_NT5C2.
ExpressionAtlasiP49902. baseline and differential.
GenevisibleiP49902. HS.

Organism-specific databases

HPAiHPA003751.

Interactioni

Subunit structurei

Homotetramer.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ATP5OP480473EBI-742084,EBI-355815
FXR2P511163EBI-742084,EBI-740459
MOB1BQ7L9L43EBI-742084,EBI-2558745
MOB3BQ86TA13EBI-742084,EBI-751703
MOB3CQ70IA83EBI-742084,EBI-9679267
NME7Q9Y5B84EBI-742084,EBI-744782
NUDT18Q6ZVK83EBI-742084,EBI-740486
SDCBPO005603EBI-742084,EBI-727004

Protein-protein interaction databases

BioGridi116627. 29 interactors.
IntActiP49902. 14 interactors.
MINTiMINT-1436872.
STRINGi9606.ENSP00000339479.

Structurei

Secondary structure

1561
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi5 – 13Combined sources9
Helixi21 – 28Combined sources8
Helixi31 – 33Combined sources3
Beta strandi36 – 39Combined sources4
Helixi43 – 45Combined sources3
Beta strandi48 – 51Combined sources4
Turni55 – 57Combined sources3
Beta strandi58 – 60Combined sources3
Helixi64 – 79Combined sources16
Helixi84 – 88Combined sources5
Beta strandi101 – 103Combined sources3
Turni104 – 107Combined sources4
Beta strandi108 – 112Combined sources5
Beta strandi117 – 123Combined sources7
Beta strandi126 – 128Combined sources3
Helixi130 – 136Combined sources7
Helixi138 – 140Combined sources3
Turni147 – 149Combined sources3
Beta strandi150 – 152Combined sources3
Helixi156 – 158Combined sources3
Helixi159 – 174Combined sources16
Beta strandi178 – 181Combined sources4
Beta strandi184 – 187Combined sources4
Beta strandi190 – 193Combined sources4
Helixi194 – 210Combined sources17
Helixi214 – 220Combined sources7
Helixi222 – 225Combined sources4
Helixi231 – 242Combined sources12
Beta strandi243 – 248Combined sources6
Helixi253 – 263Combined sources11
Beta strandi266 – 271Combined sources6
Helixi279 – 282Combined sources4
Beta strandi284 – 289Combined sources6
Helixi294 – 296Combined sources3
Beta strandi302 – 306Combined sources5
Turni307 – 310Combined sources4
Beta strandi327 – 329Combined sources3
Helixi332 – 339Combined sources8
Helixi343 – 345Combined sources3
Beta strandi346 – 351Combined sources6
Helixi353 – 357Combined sources5
Helixi358 – 364Combined sources7
Beta strandi367 – 371Combined sources5
Helixi375 – 384Combined sources10
Helixi386 – 398Combined sources13
Turni403 – 405Combined sources3
Helixi421 – 432Combined sources12
Beta strandi440 – 443Combined sources4
Beta strandi446 – 448Combined sources3
Helixi449 – 457Combined sources9
Beta strandi459 – 463Combined sources5
Helixi465 – 470Combined sources6
Helixi485 – 487Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2J2CX-ray2.20A1-536[»]
2JC9X-ray1.50A1-536[»]
2JCMX-ray2.15A1-536[»]
2XCVX-ray2.30A1-536[»]
2XCWX-ray1.90A1-536[»]
2XCXX-ray2.30A1-536[»]
2XJBX-ray2.30A1-536[»]
2XJCX-ray2.00A1-536[»]
2XJDX-ray2.00A1-536[»]
2XJEX-ray2.30A1-536[»]
2XJFX-ray2.10A1-536[»]
4H4BX-ray2.90A1-536[»]
5CQZX-ray2.90A/B1-536[»]
5CR7X-ray2.90A/B1-536[»]
5K7YX-ray1.79A1-536[»]
5L4ZX-ray1.84A1-536[»]
5L50X-ray1.64A1-536[»]
ProteinModelPortaliP49902.
SMRiP49902.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP49902.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni202 – 210Substrate bindingSequence analysis9

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi549 – 561Asp/Glu-rich (acidic)Add BLAST13

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG2469. Eukaryota.
ENOG410XQAV. LUCA.
GeneTreeiENSGT00550000074539.
HOGENOMiHOG000246075.
HOVERGENiHBG000025.
KOiK01081.
OMAiVMLGEMY.
OrthoDBiEOG091G074N.
PhylomeDBiP49902.
TreeFamiTF315266.

Family and domain databases

Gene3Di3.40.50.1000. 3 hits.
InterProiIPR023214. HAD-like_dom.
IPR008380. HAD-SF_hydro_IG_5-nucl.
IPR016695. Pur_nucleotidase.
[Graphical view]
PANTHERiPTHR12103. PTHR12103. 1 hit.
PfamiPF05761. 5_nucleotid. 1 hit.
[Graphical view]
PIRSFiPIRSF017434. Purine_5'-nucleotidase. 1 hit.
SUPFAMiSSF56784. SSF56784. 1 hit.
TIGRFAMsiTIGR02244. HAD-IG-Ncltidse. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P49902-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSTSWSDRLQ NAADMPANMD KHALKKYRRE AYHRVFVNRS LAMEKIKCFG
60 70 80 90 100
FDMDYTLAVY KSPEYESLGF ELTVERLVSI GYPQELLSFA YDSTFPTRGL
110 120 130 140 150
VFDTLYGNLL KVDAYGNLLV CAHGFNFIRG PETREQYPNK FIQRDDTERF
160 170 180 190 200
YILNTLFNLP ETYLLACLVD FFTNCPRYTS CETGFKDGDL FMSYRSMFQD
210 220 230 240 250
VRDAVDWVHY KGSLKEKTVE NLEKYVVKDG KLPLLLSRMK EVGKVFLATN
260 270 280 290 300
SDYKYTDKIM TYLFDFPHGP KPGSSHRPWQ SYFDLILVDA RKPLFFGEGT
310 320 330 340 350
VLRQVDTKTG KLKIGTYTGP LQHGIVYSGG SSDTICDLLG AKGKDILYIG
360 370 380 390 400
DHIFGDILKS KKRQGWRTFL VIPELAQELH VWTDKSSLFE ELQSLDIFLA
410 420 430 440 450
ELYKHLDSSS NERPDISSIQ RRIKKVTHDM DMCYGMMGSL FRSGSRQTLF
460 470 480 490 500
ASQVMRYADL YAASFINLLY YPFSYLFRAA HVLMPHESTV EHTHVDINEM
510 520 530 540 550
ESPLATRNRT SVDFKDTDYK RHQLTRSISE IKPPNLFPLA PQEITHCHDE
560
DDDEEEEEEE E
Length:561
Mass (Da):64,970
Last modified:October 1, 1996 - v1
Checksum:i4C27D762575E0EA2
GO
Isoform 2 (identifier: P49902-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: MSTSWSDRLQNAADMPANMDKHALKKYRREAYHR → MSKEG

Note: No experimental confirmation available.
Show »
Length:532
Mass (Da):61,441
Checksum:iE0DA487A03BC5F7E
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0242443T → A.1 PublicationCorresponds to variant rs10883841dbSNPEnsembl.1
Natural variantiVAR_030242136Q → R.Corresponds to variant rs12262171dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0542351 – 34MSTSW…EAYHR → MSKEG in isoform 2. 1 PublicationAdd BLAST34

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D38524 mRNA. Translation: BAA07529.1.
AK295593 mRNA. Translation: BAH12118.1.
AL139817, AL360001 Genomic DNA. Translation: CAI40080.1.
AL360001, AL139817 Genomic DNA. Translation: CAI13473.1.
CH471066 Genomic DNA. Translation: EAW49656.1.
CH471066 Genomic DNA. Translation: EAW49657.1.
BC001595 mRNA. Translation: AAH01595.1.
CCDSiCCDS7544.1. [P49902-1]
PIRiJC2436.
RefSeqiNP_001127845.1. NM_001134373.2. [P49902-1]
NP_036361.1. NM_012229.4. [P49902-1]
XP_005269693.1. XM_005269636.4. [P49902-1]
XP_005269696.1. XM_005269639.4. [P49902-2]
UniGeneiHs.97439.

Genome annotation databases

EnsembliENST00000343289; ENSP00000339479; ENSG00000076685. [P49902-1]
ENST00000404739; ENSP00000383960; ENSG00000076685. [P49902-1]
GeneIDi22978.
KEGGihsa:22978.
UCSCiuc001kwq.4. human. [P49902-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D38524 mRNA. Translation: BAA07529.1.
AK295593 mRNA. Translation: BAH12118.1.
AL139817, AL360001 Genomic DNA. Translation: CAI40080.1.
AL360001, AL139817 Genomic DNA. Translation: CAI13473.1.
CH471066 Genomic DNA. Translation: EAW49656.1.
CH471066 Genomic DNA. Translation: EAW49657.1.
BC001595 mRNA. Translation: AAH01595.1.
CCDSiCCDS7544.1. [P49902-1]
PIRiJC2436.
RefSeqiNP_001127845.1. NM_001134373.2. [P49902-1]
NP_036361.1. NM_012229.4. [P49902-1]
XP_005269693.1. XM_005269636.4. [P49902-1]
XP_005269696.1. XM_005269639.4. [P49902-2]
UniGeneiHs.97439.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2J2CX-ray2.20A1-536[»]
2JC9X-ray1.50A1-536[»]
2JCMX-ray2.15A1-536[»]
2XCVX-ray2.30A1-536[»]
2XCWX-ray1.90A1-536[»]
2XCXX-ray2.30A1-536[»]
2XJBX-ray2.30A1-536[»]
2XJCX-ray2.00A1-536[»]
2XJDX-ray2.00A1-536[»]
2XJEX-ray2.30A1-536[»]
2XJFX-ray2.10A1-536[»]
4H4BX-ray2.90A1-536[»]
5CQZX-ray2.90A/B1-536[»]
5CR7X-ray2.90A/B1-536[»]
5K7YX-ray1.79A1-536[»]
5L4ZX-ray1.84A1-536[»]
5L50X-ray1.64A1-536[»]
ProteinModelPortaliP49902.
SMRiP49902.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116627. 29 interactors.
IntActiP49902. 14 interactors.
MINTiMINT-1436872.
STRINGi9606.ENSP00000339479.

Chemistry databases

DrugBankiDB00171. Adenosine triphosphate.
DB00811. Ribavirin.

PTM databases

DEPODiP49902.
iPTMnetiP49902.
PhosphoSitePlusiP49902.

Polymorphism and mutation databases

BioMutaiNT5C2.
DMDMi1703012.

Proteomic databases

EPDiP49902.
MaxQBiP49902.
PaxDbiP49902.
PeptideAtlasiP49902.
PRIDEiP49902.
TopDownProteomicsiP49902-1. [P49902-1]

Protocols and materials databases

DNASUi22978.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000343289; ENSP00000339479; ENSG00000076685. [P49902-1]
ENST00000404739; ENSP00000383960; ENSG00000076685. [P49902-1]
GeneIDi22978.
KEGGihsa:22978.
UCSCiuc001kwq.4. human. [P49902-1]

Organism-specific databases

CTDi22978.
DisGeNETi22978.
GeneCardsiNT5C2.
HGNCiHGNC:8022. NT5C2.
HPAiHPA003751.
MalaCardsiNT5C2.
MIMi600417. gene.
613162. phenotype.
neXtProtiNX_P49902.
OpenTargetsiENSG00000076685.
Orphaneti320396. Autosomal recessive spastic paraplegia type 45.
PharmGKBiPA31801.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2469. Eukaryota.
ENOG410XQAV. LUCA.
GeneTreeiENSGT00550000074539.
HOGENOMiHOG000246075.
HOVERGENiHBG000025.
KOiK01081.
OMAiVMLGEMY.
OrthoDBiEOG091G074N.
PhylomeDBiP49902.
TreeFamiTF315266.

Enzyme and pathway databases

BioCyciMetaCyc:HS01216-MONOMER.
ZFISH:HS01216-MONOMER.
BRENDAi3.1.3.5. 2681.
ReactomeiR-HSA-2161541. Abacavir metabolism.
R-HSA-74259. Purine catabolism.
SABIO-RKP49902.

Miscellaneous databases

ChiTaRSiNT5C2. human.
EvolutionaryTraceiP49902.
GenomeRNAii22978.
PROiP49902.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000076685.
CleanExiHS_NT5C2.
ExpressionAtlasiP49902. baseline and differential.
GenevisibleiP49902. HS.

Family and domain databases

Gene3Di3.40.50.1000. 3 hits.
InterProiIPR023214. HAD-like_dom.
IPR008380. HAD-SF_hydro_IG_5-nucl.
IPR016695. Pur_nucleotidase.
[Graphical view]
PANTHERiPTHR12103. PTHR12103. 1 hit.
PfamiPF05761. 5_nucleotid. 1 hit.
[Graphical view]
PIRSFiPIRSF017434. Purine_5'-nucleotidase. 1 hit.
SUPFAMiSSF56784. SSF56784. 1 hit.
TIGRFAMsiTIGR02244. HAD-IG-Ncltidse. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry namei5NTC_HUMAN
AccessioniPrimary (citable) accession number: P49902
Secondary accession number(s): B7Z382, D3DR91, Q5JUV5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: November 30, 2016
This is version 159 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Allosteric enzyme, Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.