NUP133

Summary

NUP133 (nucleoporin 133, HGNC:18016) is a protein-coding gene on chromosome 1q42.13, encoding Nuclear pore complex protein Nup133 (Q8WUM0). Involved in poly(A)+ RNA transport. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).

The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells.

Source: NCBI Gene 55746 — RefSeq curated summary.

At a glance

• Gene–disease (curated): nephrotic syndrome, type 18 (Strong, GenCC) — +3 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 388 total — 1 pathogenic, 7 likely-pathogenic
• Phenotypes (HPO): 62
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_018230

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18016
Approved symbol	NUP133
Name	nucleoporin 133
Location	1q42.13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10814
Ensembl gene	ENSG00000069248
Ensembl biotype	protein_coding
OMIM	607613
Entrez	55746

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 14 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000261396, ENST00000366678, ENST00000485119, ENST00000490352, ENST00000851656, ENST00000851657, ENST00000851658, ENST00000851659, ENST00000851660, ENST00000851661, ENST00000916039, ENST00000916040, ENST00000916041, ENST00000916042, ENST00000942131, ENST00000942132, ENST00000942133

RefSeq mRNA: 1 — MANE Select: NM_018230 NM_018230

CCDS: CCDS1579

Canonical transcript exons

ENST00000261396 — 26 exons

Exon	Start	End
ENSE00000594035	229477597	229477760
ENSE00000594038	229465420	229465519
ENSE00000793030	229470580	229470804
ENSE00000793031	229475638	229475732
ENSE00000961359	229484054	229484145
ENSE00000961360	229466634	229466756
ENSE00000961361	229463543	229463676
ENSE00000961362	229460611	229460769
ENSE00000961363	229458161	229458296
ENSE00000961364	229452525	229452643
ENSE00000961365	229450525	229450605
ENSE00001015850	229487466	229487613
ENSE00001015853	229464624	229464875
ENSE00001015859	229486371	229486528
ENSE00001069978	229498136	229498306
ENSE00001069984	229495495	229495565
ENSE00001069987	229489955	229490102
ENSE00001069994	229495892	229496047
ENSE00001263815	229508068	229508341
ENSE00001879885	229440259	229442040
ENSE00003619523	229444914	229445002
ENSE00003676573	229449126	229449190
ENSE00003755291	229506040	229506158
ENSE00003756149	229499684	229499818
ENSE00003756624	229501999	229502102
ENSE00003759814	229500756	229500863

Expression profiles

Bgee: expression breadth ubiquitous, 297 present calls, max score 99.39.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.1188 / max 275.0111, expressed in 1825 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
17917	42.1188	1825

Top tissues by expression

301 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	99.39	gold quality
oocyte	CL:0000023	99.02	gold quality
ventricular zone	UBERON:0003053	94.58	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	94.20	gold quality
parietal pleura	UBERON:0002400	93.27	gold quality
pleura	UBERON:0000977	92.92	gold quality
tibia	UBERON:0000979	92.89	gold quality
germinal epithelium of ovary	UBERON:0001304	92.57	gold quality
visceral pleura	UBERON:0002401	92.51	gold quality
palpebral conjunctiva	UBERON:0001812	91.77	gold quality
epithelium of nasopharynx	UBERON:0001951	91.52	gold quality
nasopharynx	UBERON:0001728	91.51	gold quality
ganglionic eminence	UBERON:0004023	91.41	gold quality
eye	UBERON:0000970	91.37	gold quality
hair follicle	UBERON:0002073	91.24	gold quality
choroid plexus epithelium	UBERON:0003911	90.94	gold quality
calcaneal tendon	UBERON:0003701	90.43	gold quality
pigmented layer of retina	UBERON:0001782	90.19	gold quality
retina	UBERON:0000966	90.16	gold quality
epithelium of mammary gland	UBERON:0003244	90.16	gold quality
corpus callosum	UBERON:0002336	90.08	gold quality
mammary gland	UBERON:0001911	90.02	gold quality
thoracic mammary gland	UBERON:0005200	90.01	gold quality
embryo	UBERON:0000922	89.93	gold quality
mammary duct	UBERON:0001765	89.89	gold quality
esophagus squamous epithelium	UBERON:0006920	89.64	gold quality
endometrium	UBERON:0001295	89.46	gold quality
inferior vagus X ganglion	UBERON:0005363	89.46	gold quality
gingival epithelium	UBERON:0001949	89.42	gold quality
bronchial epithelial cell	CL:0002328	89.39	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting NUP133, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4282	99.99	75.36	6408
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-545-3P	99.95	70.74	2783
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-1197	99.70	67.75	1027
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-3685	99.62	68.83	1621
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-142-5P	99.48	70.92	2416
HSA-MIR-5590-3P	99.48	70.91	2429
HSA-MIR-516A-3P	99.46	67.96	1378

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 8)

• human Nup133 contains two domains: a COOH-terminal domain responsible for its interaction with its subcomplex through Nup107; and an NH2-terminal domain whose crystal structure reveals a seven-bladed beta-propeller. (PMID:15557116)
• When complexed with NUP107, this complex will give the first insights into the protein-protein interactions within a core module of the nuclear pore complex. (PMID:17768364)
• The significant topological differences between Nup107 and Nup133 suggest that helical nucleoporin domains of the nuclear pore complex scaffold fall in different classes and fulfill largely nonredundant functions. (PMID:18570875)
• Data present crystal structures of yNup170(979-1502) and hNup107(658-925) x hNup133(517-1156), and conservation of domain arrangement and of tertiary structure suggests that Nup157/170 and Nup133 derived from a common ancestor. (PMID:19674973)
• These data of this study indicated that the biallelic NUP133 loss-of-function mutation causes Galloway-Mowat syndrome. (PMID:30427554)
• Nup133 effectively assembled Nup107 and ELYS of the nuclear pore complex at the end of the mitosis. (PMID:30821042)
• NUP133 Controls Nuclear Pore Assembly, Transcriptome Composition, and Cytoskeleton Regulation in Podocytes. (PMID:35455939)
• Steroid-resistant nephrotic syndrome caused by nuclear pore gene NUP133 variation. (PMID:37041680)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nup133	ENSDARG00000010078
mus_musculus	Nup133	ENSMUSG00000039509
rattus_norvegicus	Nup133	ENSRNOG00000017919
drosophila_melanogaster	Nup133	FBGN0039004
caenorhabditis_elegans		WBGENE00003801

Protein

Protein identifiers

Nuclear pore complex protein Nup133 — Q8WUM0 (reviewed: Q8WUM0)

Alternative names: 133 kDa nucleoporin, Nucleoporin Nup133

All UniProt accessions (1): Q8WUM0

UniProt curated annotations — full annotation on UniProt →

Function. Involved in poly(A)+ RNA transport. Involved in nephrogenesis.

Subunit / interactions. Forms part of the Nup160 subcomplex in the nuclear pore which is composed of NUP160, NUP133, NUP107 and Nup96. This complex plays a role in RNA export and in tethering Nup98 and NUP153 to the nucleus.

Subcellular location. Nucleus. Nuclear pore complex. Chromosome. Centromere. Kinetochore.

Tissue specificity. Widely expressed in fetal and adult tissues. Expressed in the brain and kidney.

Disease relevance. Nephrotic syndrome 18 (NPHS18) [MIM:618177] A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS18 is an autosomal recessive, steroid-resistant progressive form with onset in the first decade of life. The disease is caused by variants affecting the gene represented in this entry. Galloway-Mowat syndrome 8 (GAMOS8) [MIM:618349] A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS8 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the nucleoporin Nup133 family.

RefSeq proteins (1): NP_060700* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007187	Nucleoporin_Nup133/Nup155_C	Domain
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR037624	Nup133-like	Family

Pfam: PF03177

UniProt features (85 total): strand 29, modified residue 19, helix 18, sequence variant 8, sequence conflict 5, turn 4, chain 1, region of interest 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
1XKS	X-RAY DIFFRACTION	2.35
3CQC	X-RAY DIFFRACTION	2.53
3CQG	X-RAY DIFFRACTION	3
3I4R	X-RAY DIFFRACTION	3.53
7R5K	ELECTRON MICROSCOPY	12
5A9Q	ELECTRON MICROSCOPY	23
7PEQ	ELECTRON MICROSCOPY	35
7R5J	ELECTRON MICROSCOPY	50

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WUM0-F1	79.40	0.32

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (19): 45, 50, 72, 131, 480, 489, 493, 501, 755, 787, 1, 1133, 7, 15, 17, 27, 28, 30, 41

Function

Pathways and Gene Ontology

Reactome pathways

38 pathways

ID	Pathway
R-HSA-1169408	ISG15 antiviral mechanism
R-HSA-141444	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-159227	Transport of the SLBP independent Mature mRNA
R-HSA-159230	Transport of the SLBP Dependant Mature mRNA
R-HSA-159231	Transport of Mature mRNA Derived from an Intronless Transcript
R-HSA-159236	Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-165054	Rev-mediated nuclear export of HIV RNA
R-HSA-168271	Transport of Ribonucleoproteins into the Host Nucleus
R-HSA-168276	NS1 Mediated Effects on Host Pathways
R-HSA-168325	Viral Messenger RNA Synthesis
R-HSA-168333	NEP/NS2 Interacts with the Cellular Export Machinery
R-HSA-170822	Regulation of Glucokinase by Glucokinase Regulatory Protein
R-HSA-180746	Nuclear import of Rev protein
R-HSA-180910	Vpr-mediated nuclear import of PICs
R-HSA-1855170	IPs transport between nucleus and cytosol
R-HSA-1855196	IP3 and IP4 transport between cytosol and nucleus
R-HSA-1855229	IP6 and IP7 transport between cytosol and nucleus
R-HSA-191859	snRNP Assembly
R-HSA-2467813	Separation of Sister Chromatids
R-HSA-2500257	Resolution of Sister Chromatid Cohesion
R-HSA-3108214	SUMOylation of DNA damage response and repair proteins
R-HSA-3232142	SUMOylation of ubiquitinylation proteins
R-HSA-3301854	Nuclear Pore Complex (NPC) Disassembly
R-HSA-3371453	Regulation of HSF1-mediated heat shock response
R-HSA-4085377	SUMOylation of SUMOylation proteins
R-HSA-4551638	SUMOylation of chromatin organization proteins
R-HSA-4570464	SUMOylation of RNA binding proteins
R-HSA-4615885	SUMOylation of DNA replication proteins
R-HSA-5619107	Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
R-HSA-5663220	RHO GTPases Activate Formins

MSigDB gene sets: 395 (showing top): GOBP_CHROMOSOME_ORGANIZATION, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, REACTOME_INTERACTIONS_OF_VPR_WITH_HOST_CELLULAR_PROTEINS, GCM_GSPT1, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, REACTOME_VIRAL_MESSENGER_RNA_SYNTHESIS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_NEUROGENESIS, GOBP_NEURAL_TUBE_DEVELOPMENT, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_NUCLEAR_PORE_ORGANIZATION, PATIL_LIVER_CANCER

GO Biological Process (15): transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972), mRNA export from nucleus (GO:0006406), protein import into nucleus (GO:0006606), nucleocytoplasmic transport (GO:0006913), nuclear pore organization (GO:0006999), poly(A)+ mRNA export from nucleus (GO:0016973), neural tube development (GO:0021915), neurogenesis (GO:0022008), paraxial mesoderm development (GO:0048339), somite development (GO:0061053), nephron development (GO:0072006), protein transport (GO:0015031), animal organ development (GO:0048513), system development (GO:0048731), mRNA transport (GO:0051028)

GO Molecular Function (2): structural constituent of nuclear pore (GO:0017056), protein binding (GO:0005515)

GO Cellular Component (10): kinetochore (GO:0000776), nuclear envelope (GO:0005635), nuclear pore (GO:0005643), cytosol (GO:0005829), membrane (GO:0016020), nuclear pore outer ring (GO:0031080), nuclear membrane (GO:0031965), chromosome, centromeric region (GO:0000775), nucleus (GO:0005634), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-15 pathways:

Category	Pathways
Transport of Mature mRNAs Derived from Intronless Transcripts	3
Inositol phosphate metabolism	3
Interactions of Rev with host cellular proteins	2
Influenza Infection	2
Antimicrobial mechanism of IFN-stimulated genes	1
Amplification of signal from the kinetochores	1
Transport of Mature Transcript to Cytoplasm	1
Late Phase of HIV Life Cycle	1
Influenza Viral RNA Transcription and Replication	1
Export of Viral Ribonucleoproteins from Nucleus	1
Glycolysis	1
Interactions of Vpr with host cellular proteins	1
Metabolism of non-coding RNA	1
Mitotic Anaphase	1
Mitotic Prometaphase	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
anatomical structure development	3
nervous system development	2
epithelium development	2
nuclear pore	2
intracellular membraneless organelle	2
nucleus	2
nuclear envelope	2
nuclear protein-containing complex	2
cellular anatomical structure	2
chromosome organization	1
RNA export from nucleus	1
gene expression	1
mRNA transport	1
intracellular protein transport	1
protein localization to nucleus	1
import into nucleus	1
establishment of protein localization to organelle	1
nuclear transport	1
nucleus organization	1
protein-containing complex organization	1
mRNA export from nucleus	1
tube development	1
chordate embryonic development	1
cell differentiation	1
mesoderm development	1
mesenchyme development	1
embryo development	1
kidney development	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
multicellular organism development	1
RNA transport	1
structural molecule activity	1
nucleocytoplasmic transport	1
binding	1
condensed chromosome, centromeric region	1
supramolecular complex	1
endomembrane system	1
organelle envelope	1

Protein interactions and networks

STRING

2984 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NUP133	NUP107	P57740	999
NUP133	NUP160	Q12769	999
NUP133	NUP85	Q9BW27	998
NUP133	NUP98	P52948	998
NUP133	SEC13	P55735	998
NUP133	NUP43	Q8NFH3	997
NUP133	NUP37	Q8NFH4	997
NUP133	SEH1L	Q96EE3	997
NUP133	AHCTF1	Q8WYP5	990
NUP133	NUP153	P49790	974
NUP133	RANBP2	P49792	922
NUP133	NUP214	P35658	918
NUP133	NUP93	Q8N1F7	880
NUP133	NUP155	O75694	859
NUP133	NUP35	Q8NFH5	838

IntAct

170 interactions, top by confidence:

A	B	Type	Score
CDK4	CCND3	psi-mi:“MI:0914”(association)	0.980
NUP120	NUP84	psi-mi:“MI:0915”(physical association)	0.940
NUP133	NUP107	psi-mi:“MI:0915”(physical association)	0.930
NUP107	NUP133	psi-mi:“MI:0915”(physical association)	0.930
NUP107	NUP133	psi-mi:“MI:0914”(association)	0.930
NXF1	NUP214	psi-mi:“MI:0914”(association)	0.810
NUP133	NUP85	psi-mi:“MI:0915”(physical association)	0.750
NUP133	NUP98	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
LRRK2	NUP133	psi-mi:“MI:0407”(direct interaction)	0.690
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
SEC13	SEC16A	psi-mi:“MI:0914”(association)	0.640
NUP43	NUP98	psi-mi:“MI:0914”(association)	0.640
Nup107	NUP98	psi-mi:“MI:0915”(physical association)	0.560
KPNB1	POM121C	psi-mi:“MI:0914”(association)	0.530
FOXP3	FOXP2	psi-mi:“MI:0914”(association)	0.530
NUP43	KIF5B	psi-mi:“MI:0914”(association)	0.530

BioGRID (299): NUP133 (Affinity Capture-MS), NUP133 (Affinity Capture-MS), NUP133 (Affinity Capture-MS), NUP133 (Affinity Capture-MS), NUP133 (Affinity Capture-MS), AHCTF1 (Co-fractionation), C19orf53 (Co-fractionation), NUP107 (Co-fractionation), NUP133 (Co-fractionation), ZMYM2 (Co-fractionation), NUP133 (Affinity Capture-MS), NUP133 (Affinity Capture-MS), NUP133 (Proximity Label-MS), NUP133 (Proximity Label-MS), WWOX (Proximity Label-MS)

ESM2 similar proteins: A0A1L8F8I9, A0A2R8QPS5, A1A5P5, A7S2N8, B0BM28, B4FGS2, B8AXB6, B8B624, B8JKF4, B9FM64, F1QNV4, F4IQJ2, P49842, P97564, Q08CY4, Q08DB2, Q0P5W1, Q0VA04, Q14AI0, Q2KI89, Q32PH0, Q3SYG4, Q3U0M1, Q4R804, Q5R629, Q61586, Q66I84, Q68F70, Q6DHG8, Q6GL75, Q6GMB0, Q6GN08, Q6GPP1, Q6NU25, Q6PA97, Q7T006, Q7XAM0, Q7Z3E5, Q811G0, Q8CIM8

Diamond homologs: F1QNV4, Q8R0G9, Q8WUM0, P34343

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NUP133	“form complex”	NPC	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 164 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
NEP/NS2 Interacts with the Cellular Export Machinery	16	48.1×	1e-21
Rev-mediated nuclear export of HIV RNA	17	46.9×	1e-22
Nuclear import of Rev protein	16	46.7×	1e-21
Transport of Ribonucleoproteins into the Host Nucleus	15	46.5×	2e-20
IPs transport between nucleus and cytosol	14	46.3×	3e-19
IP3 and IP4 transport between cytosol and nucleus	14	46.3×	3e-19
IP6 and IP7 transport between cytosol and nucleus	14	46.3×	3e-19
Transport of the SLBP independent Mature mRNA	16	45.4×	2e-21

GO biological processes:

GO term	Partners	Fold	FDR
RNA export from nucleus	7	47.5×	1e-08
nucleocytoplasmic transport	16	45.4×	4e-20
NLS-bearing protein import into nucleus	6	34.9×	2e-06
mRNA export from nucleus	10	21.4×	8e-09
mRNA transport	11	21.0×	1e-09
microtubule bundle formation	5	18.5×	9e-04
protein import into nucleus	14	14.6×	4e-10
mRNA splicing, via spliceosome	8	5.3×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

388 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	7
Uncertain significance	214
Likely benign	96
Benign	25

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
619944	NM_018230.3(NUP133):c.3335-11T>A	Pathogenic
1333537	NM_018230.3(NUP133):c.196C>T (p.Arg66Ter)	Likely pathogenic
3337412	NM_018230.3(NUP133):c.3334+1G>T	Likely pathogenic
3337413	NM_018230.3(NUP133):c.2077-1G>C	Likely pathogenic
4813784	NM_018230.3(NUP133):c.1393dup (p.Ser465fs)	Likely pathogenic
590319	NM_018230.3(NUP133):c.691C>G (p.Arg231Gly)	Likely pathogenic
590321	NM_018230.3(NUP133):c.2922T>G (p.Ser974Arg)	Likely pathogenic
996957	NM_018230.3(NUP133):c.2992dup (p.Gln998fs)	Likely pathogenic

SpliceAI

4228 predictions. Top by Δscore:

Variant	Effect	Δscore
1:229442040:CCT:C	acceptor_loss	1.0000
1:229442041:C:CC	acceptor_gain	1.0000
1:229442041:CTATA:C	acceptor_loss	1.0000
1:229444912:A:AC	donor_gain	1.0000
1:229444913:C:CC	donor_gain	1.0000
1:229444913:CCAT:C	donor_gain	1.0000
1:229444999:CCAG:C	acceptor_gain	1.0000
1:229445000:CAG:C	acceptor_gain	1.0000
1:229445000:CAGC:C	acceptor_gain	1.0000
1:229445001:AG:A	acceptor_gain	1.0000
1:229445002:GCTAG:G	acceptor_loss	1.0000
1:229445003:C:CC	acceptor_gain	1.0000
1:229445003:C:G	acceptor_loss	1.0000
1:229445004:T:G	acceptor_loss	1.0000
1:229452523:A:AC	donor_gain	1.0000
1:229452524:C:CC	donor_gain	1.0000
1:229452524:CA:C	donor_gain	1.0000
1:229452652:CAAGA:C	acceptor_gain	1.0000
1:229452653:A:T	acceptor_gain	1.0000
1:229452656:A:AC	acceptor_gain	1.0000
1:229452656:A:C	acceptor_gain	1.0000
1:229458223:AAG:A	donor_gain	1.0000
1:229460605:TCTTA:T	donor_loss	1.0000
1:229460606:CTTA:C	donor_loss	1.0000
1:229460608:TACC:T	donor_loss	1.0000
1:229460609:ACC:A	donor_loss	1.0000
1:229460765:AAATT:A	acceptor_gain	1.0000
1:229460766:AATT:A	acceptor_gain	1.0000
1:229460767:ATT:A	acceptor_gain	1.0000
1:229460768:TT:T	acceptor_gain	1.0000

AlphaMissense

7563 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:229460646:A:G	W937R	0.999
1:229460646:A:T	W937R	0.999
1:229477618:A:G	W579R	0.999
1:229477618:A:T	W579R	0.999
1:229460714:A:G	L914S	0.998
1:229477616:C:A	W579C	0.998
1:229477616:C:G	W579C	0.998
1:229458283:A:G	L953P	0.997
1:229460765:A:G	F897S	0.997
1:229463552:A:C	F892L	0.997
1:229463552:A:T	F892L	0.997
1:229463554:A:G	F892L	0.997
1:229463640:G:T	A863E	0.997
1:229463641:C:G	A863P	0.997
1:229465426:A:G	W765R	0.997
1:229465426:A:T	W765R	0.997
1:229452532:A:G	L1031P	0.996
1:229458232:A:G	L970P	0.996
1:229460669:A:G	L929S	0.996
1:229460671:A:C	F928L	0.996
1:229460671:A:T	F928L	0.996
1:229460673:A:G	F928L	0.996
1:229460764:A:C	F897L	0.996
1:229460764:A:T	F897L	0.996
1:229460766:A:G	F897L	0.996
1:229463613:A:G	L872S	0.996
1:229502028:A:G	W126R	0.996
1:229502028:A:T	W126R	0.996
1:229460644:C:A	W937C	0.995
1:229460644:C:G	W937C	0.995

dbSNP variants (sampled 300 via entrez): RS1000047624 (1:229453454 T>A), RS1000053350 (1:229495903 C>T), RS1000075506 (1:229496211 C>G,T), RS1000118628 (1:229502858 G>A), RS1000204729 (1:229447454 A>C,G,T), RS1000237986 (1:229489594 C>T), RS1000290492 (1:229490600 T>C), RS1000291488 (1:229496205 G>A), RS1000323906 (1:229482922 C>T), RS1000354412 (1:229441138 C>T), RS1000395871 (1:229483966 C>A,G), RS1000465989 (1:229443752 G>A), RS1000489430 (1:229502514 G>A), RS1000558139 (1:229485010 G>A), RS1000679509 (1:229472180 G>A,T)

Disease associations

OMIM: gene MIM:607613 | disease phenotypes: MIM:618177, MIM:618349, MIM:251300

GenCC curated gene-disease

Disease	Classification	Inheritance
nephrotic syndrome, type 18	Strong	Autosomal recessive
Galloway-Mowat syndrome 8	Strong	Autosomal recessive
Galloway-Mowat syndrome	Supportive	Autosomal recessive
familial idiopathic steroid-resistant nephrotic syndrome	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
nephrotic syndrome, type 18	Moderate	AR

Mondo (4): nephrotic syndrome, type 18 (MONDO:0032581), Galloway-Mowat syndrome 8 (MONDO:0032693), Galloway-Mowat syndrome (MONDO:0009627), familial idiopathic steroid-resistant nephrotic syndrome (MONDO:0019006)

Orphanet (1): Galloway-Mowat syndrome (Orphanet:2065)

HPO phenotypes

62 total (30 of 62 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000092	Renal tubular atrophy
HP:0000093	Proteinuria
HP:0000097	Focal segmental glomerulosclerosis
HP:0000100	Nephrotic syndrome
HP:0000112	Nephropathy
HP:0000164	Abnormality of the dentition
HP:0000252	Microcephaly
HP:0000316	Hypertelorism
HP:0000341	Narrow forehead
HP:0000347	Micrognathia
HP:0000365	Hearing impairment
HP:0000400	Macrotia
HP:0000486	Strabismus
HP:0000601	Hypotelorism
HP:0000707	Abnormality of the nervous system
HP:0000737	Irritability
HP:0000790	Hematuria
HP:0000969	Edema
HP:0001181	Adducted thumb
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001276	Hypertonia
HP:0001302	Pachygyria
HP:0001317	Abnormal cerebellum morphology
HP:0001511	Intrauterine growth retardation
HP:0001622	Premature birth
HP:0001945	Fever
HP:0001967	Diffuse mesangial sclerosis

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010118_10	Type 2 diabetes	5.000000e-11

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537548	Galloway Mowat syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

31 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression	2
triphenyl phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
3,3’-diindolylmethane	decreases expression, decreases reaction	1
sodium arsenite	decreases expression	1
sulindac sulfide	increases expression	1
ochratoxin A	decreases acetylation, decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
abrine	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Air Pollutants, Occupational	affects expression	1
Caffeine	affects phosphorylation	1
Calcitriol	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases reaction, decreases expression, decreases reaction	1
Ivermectin	decreases expression	1
Ozone	affects expression, increases abundance	1
Plant Extracts	affects cotreatment, increases expression	1
Rotenone	increases expression	1
Tetrachlorodibenzodioxin	decreases expression, increases reaction	1
Thiram	decreases expression	1
Tretinoin	decreases expression	1
Aflatoxin B1	increases methylation	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E0UP	Ubigene Hep G2 NUP133 KO	Cancer cell line	Male
CVCL_E0VV	Ubigene Huh-7 NUP133 KO	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.