NUP98 (nucleoporin 98 and 96 precursor)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
4928 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Nucleoporin 98 and 96 precursor |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
NUP98 |
SynonymsGene synonyms aliases
|
ADIR2, NUP196, NUP96, Nup98-96 |
ChromosomeChromosome number
|
11 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
11p15.4 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and e |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs1057519323 |
T>C |
Likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant |
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miRNAmiRNA information provided by mirtarbase database.
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|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000776 |
Component |
Kinetochore |
IDA |
15146057 |
GO:0003713 |
Function |
Transcription coactivator activity |
IMP |
28221134 |
GO:0003729 |
Function |
MRNA binding |
IMP |
28221134 |
GO:0005215 |
Function |
Transporter activity |
TAS |
7736573 |
GO:0005515 |
Function |
Protein binding |
IPI |
9348540, 15146057, 17172455, 18832153, 20498086, 28221134, 30543681 |
GO:0005635 |
Component |
Nuclear envelope |
IDA |
15146057, 28221134 |
GO:0005635 |
Component |
Nuclear envelope |
TAS |
|
GO:0005643 |
Component |
Nuclear pore |
IDA |
9348540, 12802065, 15229283 |
GO:0005643 |
Component |
Nuclear pore |
NAS |
10087256 |
GO:0005654 |
Component |
Nucleoplasm |
IDA |
28221134 |
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0006110 |
Process |
Regulation of glycolytic process |
TAS |
|
GO:0006406 |
Process |
MRNA export from nucleus |
TAS |
|
GO:0006409 |
Process |
TRNA export from nucleus |
TAS |
|
GO:0006508 |
Process |
Proteolysis |
IEA |
|
GO:0006606 |
Process |
Protein import into nucleus |
IEA |
|
GO:0006913 |
Process |
Nucleocytoplasmic transport |
TAS |
9348540 |
GO:0006999 |
Process |
Nuclear pore organization |
NAS |
9348540 |
GO:0008139 |
Function |
Nuclear localization sequence binding |
IEA |
|
GO:0008236 |
Function |
Serine-type peptidase activity |
IEA |
|
GO:0016032 |
Process |
Viral process |
TAS |
|
GO:0016604 |
Component |
Nuclear body |
IDA |
28221134 |
GO:0016925 |
Process |
Protein sumoylation |
TAS |
|
GO:0017056 |
Function |
Structural constituent of nuclear pore |
IMP |
15229283 |
GO:0017056 |
Function |
Structural constituent of nuclear pore |
NAS |
9348540 |
GO:0019083 |
Process |
Viral transcription |
TAS |
|
GO:0031080 |
Component |
Nuclear pore outer ring |
IDA |
17360435 |
GO:0031080 |
Component |
Nuclear pore outer ring |
NAS |
15146057 |
GO:0031965 |
Component |
Nuclear membrane |
IDA |
11839768, 12802065, 15229283, 20407419 |
GO:0034399 |
Component |
Nuclear periphery |
IDA |
11839768, 15229283 |
GO:0042405 |
Component |
Nuclear inclusion body |
IDA |
11839768 |
GO:0043231 |
Component |
Intracellular membrane-bounded organelle |
IDA |
|
GO:0043657 |
Component |
Host cell |
IEA |
|
GO:0044615 |
Component |
Nuclear pore nuclear basket |
IDA |
11839768 |
GO:0045893 |
Process |
Positive regulation of transcription, DNA-templated |
IEA |
|
GO:0048026 |
Process |
Positive regulation of mRNA splicing, via spliceosome |
IMP |
28221134 |
GO:0051292 |
Process |
Nuclear pore complex assembly |
IMP |
15229283 |
GO:0060964 |
Process |
Regulation of gene silencing by miRNA |
TAS |
|
GO:0075733 |
Process |
Intracellular transport of virus |
TAS |
|
GO:1900034 |
Process |
Regulation of cellular response to heat |
TAS |
|
GO:1990841 |
Function |
Promoter-specific chromatin binding |
IMP |
28221134 |
GO:1990904 |
Component |
Ribonucleoprotein complex |
IMP |
28221134 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
P52948 |
Protein name |
Nuclear pore complex protein Nup98-Nup96 (EC 3.4.21.-) [Cleaved into: Nuclear pore complex protein Nup98 (98 kDa nucleoporin) (Nucleoporin Nup98) (Nup98); Nuclear pore complex protein Nup96 (96 kDa nucleoporin) (Nucleoporin Nup96) (Nup96)] |
Protein function |
Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. NUP98 and NUP96 are involved in the bidirectional transport across the NPC (PubMed:33097660). May anchor NUP153 and TPR to the NPC. In cooperation with DHX9, plays a rol |
PDB |
1KO6
,
2Q5X
,
2Q5Y
,
3MMY
,
4OWR
,
5A9Q
,
6BZM
,
7F60
,
7F90
,
7MNI
,
7PEQ
,
7Q64
,
7Q65
,
7Q66
,
7Q67
,
7VPG
,
7VPH
,
8CI8
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF04096 |
Nucleoporin2 |
738 → 885 |
Nucleoporin autopeptidase |
Family |
PF12110 |
Nup96 |
1332 → 1623 |
Nuclear protein 96 |
Domain |
|
Sequence |
|
Sequence length |
1817 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Anemia |
Anemia |
rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 |
27725143 |
Breast cancer |
Malignant neoplasm of breast |
rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243 |
|
Leukemia |
Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2) |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 |
21441929 |
Neutropenia |
Neutropenia |
rs879253882 |
27725143 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Erythroleukemia |
Acute erythroleukemia, Acute erythroleukemia - M6a subtype, Acute erythroleukemia - M6b subtype |
|
30926971 |
Lymphopenia |
Lymphopenia |
|
27725143 |
Myeloid leukemia |
Acute Myeloid Leukemia, M1, Acute myeloid leukemia FAB-M6 |
|
21441929, 30926971 |
|
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