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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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P49902 |
| Protein name |
Cytosolic purine 5'-nucleotidase (EC 3.1.3.5) (EC 3.1.3.99) (Cytosolic 5'-nucleotidase II) (cN-II) (Cytosolic IMP/GMP-specific 5'-nucleotidase) (Cytosolic nucleoside phosphotransferase 5'N) (EC 2.7.1.77) (High Km 5'-nucleotidase) |
| Protein 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 acti |
| PDB |
2J2C
, 2JC9
, 2JCM
, 2XCV
, 2XCW
, 2XCX
, 2XJB
, 2XJC
, 2XJD
, 2XJE
, 2XJF
, 4H4B
, 5CQZ
, 5CR7
, 5K7Y
, 5L4Z
, 5L50
, 5OPK
, 5OPL
, 5OPM
, 5OPN
, 5OPO
, 5OPP
, 6DD3
, 6DDB
, 6DDC
, 6DDH
, 6DDK
, 6DDL
, 6DDO
, 6DDQ
, 6DDX
, 6DDY
, 6DDZ
, 6DE0
, 6DE1
, 6DE2
, 6DE3
, 6FIR
, 6FIS
, 6FIU
, 6FIW
, 6FXH
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| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF05761 |
5_nucleotid |
35 → 489 |
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Family |
|
| Tissue specificity |
TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9371705}. |
| Sequence |
|
| Sequence length |
561 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Hereditary spastic paraplegia 45 |
Likely pathogenic; Pathogenic |
rs1457224574, rs753295868, rs587777173, rs886037656, rs886037657, rs587777174, rs886037658, rs1385107002, rs2134504868, rs2494516804, rs770036597, rs768651632, rs769417998, rs1458171628, rs2494459588, rs2494889270, rs759724715, rs375985056, rs1273292745, rs763305896, rs1430860231, rs764453448, rs769873284, rs1419090736 View all (9 more) |
RCV001330410 RCV001352898 RCV000087268 RCV000087269 RCV000087270 RCV000087271 RCV000087272 RCV002250160 RCV002250161 RCV002284297 RCV002289248 RCV003060864 RCV003104643 RCV002780484 RCV002838278 RCV003583550 RCV003885396 RCV003885397 RCV003989271 RCV000652085 RCV000702998 RCV001030784 RCV001035006 RCV001224426 |
| Neurodevelopmental disorder |
Likely pathogenic; Pathogenic |
rs753295868 |
RCV002276708 |
| Thyroid cancer, nonmedullary, 1 |
Likely pathogenic |
rs1273292745 |
RCV005937375 |
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| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Cervical cancer |
Benign |
rs12261294 |
RCV005919523 |
| Cholangiocarcinoma |
Benign |
rs34758128 |
RCV005919535 |
| Clear cell carcinoma of kidney |
Uncertain significance |
rs747868392, rs754629068 |
RCV005930922 RCV005901626 |
| Colorectal cancer |
Benign |
rs767341883 |
RCV005871220 |
| Hepatocellular carcinoma |
Benign |
rs1926030 |
RCV005918332 |
| Hereditary spastic paraplegia |
Conflicting classifications of pathogenicity; Benign; Uncertain significance |
rs537259520, rs10786736, rs774169900, rs368467266, rs753603040, rs1388307666, rs201261415, rs754629068 |
RCV001847240 RCV001847293 RCV001848544 RCV001848545 RCV001848546 RCV001848547 RCV001848548 RCV001848970 RCV001849050 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs34758128 |
RCV005919532 |
| Microcephaly |
Likely benign |
rs116066839 |
RCV001252899 |
| NT5C2-related disorder |
Likely benign; Benign |
rs761597571, rs34104646, rs2493791517, rs370299413 |
RCV003943568 RCV003976566 RCV003962228 RCV003908349 |
| Ovarian serous cystadenocarcinoma |
Conflicting classifications of pathogenicity |
rs201261415 |
RCV005922795 |
| Sarcoma |
Benign |
rs12261294 |
RCV005919524 |
| Thymoma |
Benign; Uncertain significance |
rs12261294, rs34758128, rs754629068 |
RCV005919525 RCV005919534 RCV005901627 |
| Uterine carcinosarcoma |
Benign |
rs34758128 |
RCV005919533 |
| Uterine corpus endometrial carcinoma |
Uncertain significance; Benign |
rs373347265, rs12261294, rs34758128 |
RCV005919145 RCV005919526 RCV005919536 |
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