Gene
NUP133
nucleoporin 133
- HGNC 18016↗(opens in a new tab)
- Ensembl gene ENSG00000069248↗(opens in a new tab)
- NCBI Gene 55746↗(opens in a new tab)
Summary
- Cytogenetic location
- 1q42.13
- Coordinates
- Chromosome 1: 229,440,259–229,508,341 (GRCh38)
- Exons
- 26 exons across 68.1 kb
- Protein
- 1,156 amino acids
- Also known as
- FLJ10814
- MANE Select transcript
- ENST00000261396.6NM_018230.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated report relevant to this gene
Nephrotic Syndrome
- Nephrosis
Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.
- ClinGen rates the link moderate
- 1 GenCC submitter rates it definitive or strong
How NUP133 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.2 kb of the gene's 68.1 kb; 3,471 of those bases code for the protein.
How a genome test reads NUP133
5
positions in NUP133 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 68.1 kb of NUP133, introns included, not only the 5.2 kb of exons.
Genes linked to the same conditions
- ACTN4actinin alpha 4Shares 1 condition
- ARHGDIARho GDP dissociation inhibitor alphaShares 1 condition
- COQ6coenzyme Q6, monooxygenaseShares 1 condition
- COQ8Bcoenzyme Q8BShares 1 condition
- DAAM2dishevelled associated activator of morphogenesis 2Shares 1 condition
- DGKEdiacylglycerol kinase epsilonShares 1 condition
- DLC1DLC1 Rho GTPase activating proteinShares 1 condition
- EMP2epithelial membrane protein 2Shares 1 condition
- ITSN1intersectin 1Shares 1 condition
- ITSN2intersectin 2Shares 1 condition
- KANK2KN motif and ankyrin repeat domains 2Shares 1 condition
- LAMA5laminin subunit alpha 5Shares 1 condition
Traits linked to NUP133
The Human Phenotype Ontology lists these as features of the rare conditions NUP133 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the genitourinary system
- Focal segmental glomerulosclerosis
- Nephrotic syndrome
- Stage 5 chronic kidney disease
- Kidney damage
- Chronic kidney disease
- Steroid-resistant nephrotic syndrome
- Diffuse mesangial sclerosis
- Minimal change glomerulonephritis
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). NUP133 gene: nucleoporin 133. Retrieved 17 October 2026, from https://dantelabs.com/genes/nup133
Dante Labs. NUP133 gene: nucleoporin 133 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nup133
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