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Protein

Cytosolic purine 5'-nucleotidase

Gene

NT5C2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.

Activity 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

  • adenosine metabolic process Source: GO_Central
  • drug metabolic process Source: Reactome
  • IMP metabolic process Source: GO_Central
  • purine nucleotide catabolic process Source: Reactome

Keywordsi

Molecular functionAllosteric enzyme, Hydrolase
Biological processNucleotide metabolism
LigandMagnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS01216-MONOMER
BRENDAi3.1.3.5 2681
ReactomeiR-HSA-2161541 Abacavir metabolism
R-HSA-74259 Purine catabolism
SABIO-RKiP49902

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

EuPathDBiHostDB:ENSG00000076685.18
HGNCiHGNC:8022 NT5C2
MIMi600417 gene
neXtProtiNX_P49902

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 45, autosomal recessive (SPG45)2 Publications
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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079707460L → P in SPG45; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

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

Chemistry databases

ChEMBLiCHEMBL3708197
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
ProteomicsDBi56174
TopDownProteomicsiP49902-1 [P49902-1]

PTM databases

DEPODiP49902
iPTMnetiP49902
PhosphoSitePlusiP49902

Expressioni

Gene expression databases

BgeeiENSG00000076685 Expressed in 233 organ(s), highest expression level in ectocervix
CleanExiHS_NT5C2
ExpressionAtlasiP49902 baseline and differential
GenevisibleiP49902 HS

Organism-specific databases

HPAiHPA003751

Interactioni

Subunit structurei

Homotetramer.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi116627, 34 interactors
IntActiP49902, 14 interactors
MINTiP49902
STRINGi9606.ENSP00000339479

Structurei

Secondary structure

1561
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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
OMAiACLYTSR
OrthoDBiEOG091G074N
PhylomeDBiP49902
TreeFamiTF315266

Family and domain databases

Gene3Di3.40.50.1000, 2 hits
InterProiView protein in InterPro
IPR036412 HAD-like_sf
IPR008380 HAD-SF_hydro_IG_5-nucl
IPR023214 HAD_sf
IPR016695 Pur_nucleotidase
PANTHERiPTHR12103 PTHR12103, 1 hit
PfamiView protein in Pfam
PF05761 5_nucleotid, 1 hit
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

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5JUV4Q5JUV4_HUMAN
Cytosolic purine 5'-nucleotidase
NT5C2
265Annotation score:
Q5JUV6Q5JUV6_HUMAN
Cytosolic purine 5'-nucleotidase
NT5C2
146Annotation score:
S4R3A6S4R3A6_HUMAN
Cytosolic purine 5'-nucleotidase
NT5C2
62Annotation score:
Q5JUV3Q5JUV3_HUMAN
Cytosolic purine 5'-nucleotidase
NT5C2
174Annotation score:
H0YHR8H0YHR8_HUMAN
Cytosolic purine 5'-nucleotidase
NT5C2
157Annotation score:
S4R3E7S4R3E7_HUMAN
Cytosolic purine 5'-nucleotidase
NT5C2
44Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0242443T → A1 PublicationCorresponds to variant dbSNP:rs10883841EnsemblClinVar.1
Natural variantiVAR_030242136Q → R. Corresponds to variant dbSNP:rs12262171EnsemblClinVar.1
Natural variantiVAR_079707460L → P in SPG45; unknown pathological significance. 1 Publication1

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 Genomic DNA No translation available.
AL360001 Genomic DNA No translation available.
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
XP_005269696.1, XM_005269639.4
UniGeneiHs.734531
Hs.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

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D38524 mRNA Translation: BAA07529.1
AK295593 mRNA Translation: BAH12118.1
AL139817 Genomic DNA No translation available.
AL360001 Genomic DNA No translation available.
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
XP_005269696.1, XM_005269639.4
UniGeneiHs.734531
Hs.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[»]
5OPKX-ray1.74A3-488[»]
5OPLX-ray1.80A1-536[»]
5OPMX-ray1.68A3-488[»]
5OPNX-ray1.77A3-488[»]
5OPOX-ray2.00A3-488[»]
5OPPX-ray1.70A3-488[»]
6DD3X-ray1.98A1-536[»]
6DDBX-ray2.80A/B1-536[»]
6DDCX-ray2.91A/B1-536[»]
6DDHX-ray2.35A1-536[»]
6DDKX-ray2.50A/B1-561[»]
6DDLX-ray2.26A/B1-523[»]
6DDOX-ray2.48A/B1-561[»]
6DDQX-ray2.31A/B1-561[»]
6DDXX-ray2.90A1-536[»]
6DDYX-ray1.80A1-536[»]
6DDZX-ray1.97A1-536[»]
6DE0X-ray2.05A1-523[»]
6DE1X-ray2.15A1-561[»]
6DE2X-ray2.10A1-561[»]
6DE3X-ray3.06A1-561[»]
ProteinModelPortaliP49902
SMRiP49902
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116627, 34 interactors
IntActiP49902, 14 interactors
MINTiP49902
STRINGi9606.ENSP00000339479

Chemistry databases

ChEMBLiCHEMBL3708197
DrugBankiDB00171 Adenosine triphosphate
DB00811 Ribavirin

PTM databases

DEPODiP49902
iPTMnetiP49902
PhosphoSitePlusiP49902

Polymorphism and mutation databases

BioMutaiNT5C2
DMDMi1703012

Proteomic databases

EPDiP49902
MaxQBiP49902
PaxDbiP49902
PeptideAtlasiP49902
PRIDEiP49902
ProteomicsDBi56174
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
EuPathDBiHostDB:ENSG00000076685.18
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
OMAiACLYTSR
OrthoDBiEOG091G074N
PhylomeDBiP49902
TreeFamiTF315266

Enzyme and pathway databases

BioCyciMetaCyc:HS01216-MONOMER
BRENDAi3.1.3.5 2681
ReactomeiR-HSA-2161541 Abacavir metabolism
R-HSA-74259 Purine catabolism
SABIO-RKiP49902

Miscellaneous databases

ChiTaRSiNT5C2 human
EvolutionaryTraceiP49902
GenomeRNAii22978
PROiPR:P49902
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000076685 Expressed in 233 organ(s), highest expression level in ectocervix
CleanExiHS_NT5C2
ExpressionAtlasiP49902 baseline and differential
GenevisibleiP49902 HS

Family and domain databases

Gene3Di3.40.50.1000, 2 hits
InterProiView protein in InterPro
IPR036412 HAD-like_sf
IPR008380 HAD-SF_hydro_IG_5-nucl
IPR023214 HAD_sf
IPR016695 Pur_nucleotidase
PANTHERiPTHR12103 PTHR12103, 1 hit
PfamiView protein in Pfam
PF05761 5_nucleotid, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: November 7, 2018
This is version 175 of the entry and version 1 of the sequence. See 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, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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