NT5C2
entrez
22978
canonical
uniprot
P49902
canonical
ensembl
ENSG00000076685
resolver
ensp
ENSP00000339479
resolver
ensp
ENSP00000383960
resolver
ensp
ENSP00000502215
resolver
ensp
ENSP00000502816
resolver
ensp
ENSP00000544356
resolver
ensp
ENSP00000544357
resolver
ensp
ENSP00000544358
resolver
ensp
ENSP00000544359
resolver
ensp
ENSP00000544362
resolver
ensp
ENSP00000544365
resolver
ensp
ENSP00000544371
resolver
ensp
ENSP00000544372
resolver
ensp
ENSP00000544373
resolver
ensp
ENSP00000544374
resolver
ensp
ENSP00000590594
resolver
ensp
ENSP00000590599
resolver
ensp
ENSP00000590601
resolver
ensp
ENSP00000590604
resolver
ensp
ENSP00000634196
resolver
enst
ENST00000674860
resolver
enst
ENST00000874298
resolver
enst
ENST00000874299
resolver
enst
ENST00000874306
resolver
enst
ENST00000874315
resolver
enst
ENST00000964137
resolver
genesymbol
NT5C2
resolver
genesymbol_syn
NT5B
resolver
genesymbol_syn
NT5CP
resolver
genesymbol_syn
PNT5
resolver
hgnc
HGNC:8022
resolver
uniprot
A0A384MED8
resolver
uniprot
A0A6Q8PHP0
resolver
uniprot
A8K6K2
resolver
uniprot
B7Z382
resolver
uniprot
D3DR91
resolver
uniprot
Q5JUV5
resolver
uniprot_entry
5NTC_HUMAN
resolver
uniprot_entry
A0A384MED8_HUMAN
resolver
uniprot_entry
A0A6Q8PHP0_HUMAN
resolver
uniprot_entry
A8K6K2_HUMAN
resolver
uniprot_sec
B7Z382
resolver
uniprot_sec
D3DR91
resolver
uniprot_sec
Q5JUV5
resolver
activity_regulation
ACTIVITY REGULATION: Allosterically activated by various compounds including ATP, 2,3-BPG/2,3-Bisphosphoglyceric acid and Ap4A/P1,P4-bis(5'-adenosyl) tetraphosphate (PubMed:10092873, PubMed:1659319, PubMed:21396942). Binding of an allosteric activator is a prerequisiste to magnesium and substrate binding (PubMed:21396942). Inhibited by inorganic phosphate (PubMed:10092873). {ECO:0000269|PubMed:10092873, ECO:0000269|PubMed:1659319, ECO:0000269|PubMed:21396942}.
uniprot
proteins
amino_acid_sequence
MSTSWSDRLQNAADMPANMDKHALKKYRREAYHRVFVNRSLAMEKIKCFGFDMDYTLAVYKSPEYESLGFELTVERLVSIGYPQELLSFAYDSTFPTRGLVFDTLYGNLLKVDAYGNLLVCAHGFNFIRGPETREQYPNKFIQRDDTERFYILNTLFNLPETYLLACLVDFFTNCPRYTSCETGFKDGDLFMSYRSMFQDVRDAVDWVHYKGSLKEKTVENLEKYVVKDGKLPLLLSRMKEVGKVFLATNSDYKYTDKIMTYLFDFPHGPKPGSSHRPWQSYFDLILVDARKPLFFGEGTVLRQVDTKTGKLKIGTYTGPLQHGIVYSGGSSDTICDLLGAKGKDILYIGDHIFGDILKSKKRQGWRTFLVIPELAQELHVWTDKSSLFEELQSLDIFLAELYKHLDSSSNERPDISSIQRRIKKVTHDMDMCYGMMGSLFRSGSRQTLFASQVMRYADLYAASFINLLYYPFSYLFRAAHVLMPHESTVEHTHVDINEMESPLATRNRTSVDFKDTDYKRHQLTRSISEIKPPNLFPLAPQEITHCHDEDDDEEEEEEEE
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 45, autosomal recessive (SPG45) [MIM:613162]: A 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 intellectual disability, contractures and learning disability. {ECO:0000269|PubMed:24482476, ECO:0000269|PubMed:28884889}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.77
uniprot
proteins
ec_number
3.1.3.5
uniprot
proteins
ec_number
3.1.3.99
uniprot
proteins
function
FUNCTION: Broad specificity cytosolic 5'-nucleotidase that catalyzes the dephosphorylation of 6-hydroxypurine nucleoside 5'-monophosphates (PubMed:10092873, PubMed:12907246, PubMed:1659319, PubMed:9371705). In addition, possesses a phosphotransferase activity by which it can transfer a phosphate from a donor nucleoside monophosphate to an acceptor nucleoside, preferably inosine, deoxyinosine and guanosine (PubMed:1659319, PubMed:9371705). Has the highest activities for IMP and GMP followed by dIMP, dGMP and XMP (PubMed:10092873, PubMed:12907246, PubMed:1659319, PubMed:9371705). Could also catalyze the transfer of phosphates from pyrimidine monophosphates but with lower efficiency (PubMed:1659319, PubMed:9371705). Through these activities regulates the purine nucleoside/nucleotide pools within the cell (PubMed:10092873, PubMed:12907246, PubMed:1659319, PubMed:9371705). {ECO:0000269|PubMed:10092873, ECO:0000269|PubMed:12907246, ECO:0000269|PubMed:1659319, ECO:0000269|PubMed:9371705}.
uniprot
proteins
mass_dalton
64970
uniprot
proteins
mutagenesis
MUTAGEN 52; /note="D->N: Loss of 5' nucleotidase activity."; /evidence="ECO:0000269|PubMed:21396942
uniprot
proteins
protein_family
5'(3')-deoxyribonucleotidase family
uniprot
proteins
pubmed
10092873
uniprot
proteins
pubmed
12907246
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1659319
uniprot
proteins
pubmed
17405878
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21396942
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24482476
uniprot
proteins
pubmed
28884889
uniprot
proteins
pubmed
7999131
uniprot
proteins
pubmed
9371705
uniprot
proteins
sequence_length
561
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:9371705}.
uniprot
proteins