NT5C3A
entrez
51251
canonical
uniprot
Q9H0P0
canonical
ensembl
ENSG00000122643
resolver
ensp
ENSP00000387166
resolver
ensp
ENSP00000476480
resolver
ensp
ENSP00000496364
resolver
ensp
ENSP00000600243
resolver
ensp
ENSP00000600244
resolver
enst
ENST00000610140
resolver
genesymbol
NT5C3A
resolver
genesymbol_syn
NT5C3
resolver
genesymbol_syn
P5N1
resolver
genesymbol_syn
UMPH1
resolver
hgnc
HGNC:17820
resolver
uniprot
A8K253
resolver
uniprot
B2RAA5
resolver
uniprot
B8ZZC4
resolver
uniprot
Q6IPZ1
resolver
uniprot
Q6NXS6
resolver
uniprot
Q7L3G6
resolver
uniprot
Q9P0P5
resolver
uniprot
Q9UC42
resolver
uniprot
Q9UC43
resolver
uniprot
Q9UC44
resolver
uniprot
Q9UC45
resolver
uniprot
X6RM59
resolver
uniprot_entry
5NT3A_HUMAN
resolver
uniprot_entry
X6RM59_HUMAN
resolver
uniprot_sec
A8K253
resolver
uniprot_sec
B2RAA5
resolver
uniprot_sec
B8ZZC4
resolver
uniprot_sec
Q6IPZ1
resolver
uniprot_sec
Q6NXS6
resolver
uniprot_sec
Q7L3G6
resolver
uniprot_sec
Q9P0P5
resolver
uniprot_sec
Q9UC42
resolver
uniprot_sec
Q9UC43
resolver
uniprot_sec
Q9UC44
resolver
uniprot_sec
Q9UC45
resolver
amino_acid_sequence
MRAPSMDRAAVARVGAVASASVCALVAGVVLAQYIFTLKRKTGRKTKIIEMMPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQIITDFDMTLSRFSYKGKRCPTCHNIIDNCKLVTDECRKKLLQLKEKYYAIEVDPVLTVEEKYPYMVEWYTKSHGLLVQQALPKAKLKEIVAESDVMLKEGYENFFDKLQQHSIPVFIFSAGIGDVLEEVIRQAGVYHPNVKVVSNFMDFDETGVLKGFKGELIHVFNKHDGALRNTEYFNQLKDNSNIILLGDSQGDLRMADGVANVEHILKIGYLNDRVDELLEKYMDSYDIVLVQDESLEVANSILQKIL
uniprot
proteins
disease_involvement
DISEASE: P5N deficiency (P5ND) [MIM:266120]: Autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties. {ECO:0000269|PubMed:11369620, ECO:0000269|PubMed:12930399, ECO:0000269|PubMed:15238149, ECO:0000269|PubMed:15604219, ECO:0000269|PubMed:15968458, ECO:0000269|PubMed:16461318, ECO:0000269|PubMed:18499901, ECO:0000269|PubMed:25153905}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.3.5
uniprot
proteins
ec_number
3.1.3.91
uniprot
proteins
function
FUNCTION: Nucleotidase which shows specific activity towards cytidine monophosphate (CMP) and 7-methylguanosine monophosphate (m(7)GMP) (PubMed:24603684). CMP seems to be the preferred substrate (PubMed:15968458). {ECO:0000269|PubMed:15968458, ECO:0000269|PubMed:24603684}.
uniprot
proteins
mass_dalton
37948
uniprot
proteins
mutagenesis
MUTAGEN 88; /note="D->N: Loss of nucleotidase and phosphotransferase activity."; /evidence="ECO:0000269|PubMed:15968458"; MUTAGEN 89; /note="F->A: Almost complete loss of nucleotidase and phosphotransferase activity."; /evidence="ECO:0000269|PubMed:15968458"; MUTAGEN 90; /note="D->N: Loss of nucleotidase and phosphotransferase activity."; /evidence="ECO:0000269|PubMed:15968458"; MUTAGEN 135; /note="E->D: No effect on nucleotidase activity. Almost complete loss of phosphotransferase activity."; /evidence="ECO:0000269|PubMed:15968458"; MUTAGEN 232; /note="D->N: No effect on nucleotidase and phosphotransferase activity."; /evidence="ECO:0000269|PubMed:15968458"; MUTAGEN 233; /note="F->A: Almost complete loss of nucleotidase and phosphotransferase activity."; /evidence="ECO:0000269|PubMed:15968458"; MUTAGEN 234; /note="D->N: No effect on nucleotidase and phosphotransferase activity."; /evidence="ECO:0000269|PubMed:15968458
uniprot
proteins
protein_family
Pyrimidine 5'-nucleotidase family
uniprot
proteins
pubmed
10942414
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
11369620
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
12930399
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15238149
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15604219
uniprot
proteins
pubmed
15968458
uniprot
proteins
pubmed
16461318
uniprot
proteins
pubmed
17405878
uniprot
proteins
pubmed
18499901
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24603684
uniprot
proteins
pubmed
25153905
uniprot
proteins
pubmed
8557639
uniprot
proteins
sequence_length
336
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 2]: Endoplasmic reticulum.
uniprot
proteins