• Gene id: 55746

Gene Summary

• Gene Symbol: NUP133   Gene   UCSC   Ensembl
• Aliases: GAMOS8, NPHS18, hNUP133
• Gene name: nucleoporin 133
• Alternate names: nuclear pore complex protein Nup133, 133 kDa nucleoporin, nucleoporin 133kD, nucleoporin 133kDa, nucleoporin Nup133,
• Gene location: 1q42.13 (229508341: 229440258)     Exons: 31     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 607613

Protein Summary

• Protein general information: Q8WUM0  
  • Name: Nuclear pore complex protein Nup133 (133 kDa nucleoporin) (Nucleoporin Nup133)
  • Length: 1156  
  • Mass: 128979
  • Tissue specificity: Widely expressed in fetal and adult tissues. Expressed in the brain and kidney. {ECO
• Sequence:

  MFPAAPSPRTPGTGSRRGPLAGLGPGSTPRTASRKGLPLGSAVSSPVLFSPVGRRSSLSSRGTPTRMFPHHSITE
  SVNYDVKTFGSSLPVKVMEALTLAEVDDQLTINIDEGGWACLVCKEKLIIWKIALSPITKLSVCKELQLPPSDFH
  WSADLVALSYSSPSGEAHSTQAVAVMVATREGSIRYWPSLAGEDTYTEAFVDSGGDKTYSFLTAVQGGSFILSSS
  GSQLIRLIPESSGKIHQHILPQGQGMLSGIGRKVSSLFGILSPSSDLTLSSVLWDRERSSFYSLTSSNISKWELD
  DSSEKHAYSWDINRALKENITDAIWGSESNYEAIKEGVNIRYLDLKQNCDGLVILAAAWHSADNPCLIYYSLITI
  EDNGCQMSDAVTVEVTQYNPPFQSEDLILCQLTVPNFSNQTAYLYNESAVYVCSTGTGKFSLPQEKIVFNAQGDS
  VLGAGACGGVPIIFSRNSGLVSITSRENVSILAEDLEGSLASSVAGPNSESMIFETTTKNETIAQEDKIKLLKAA
  FLQYCRKDLGHAQMVVDELFSSHSDLDSDSELDRAVTQISVDLMDDYPASDPRWAESVPEEAPGFSNTSLIILHQ
  LEDKMKAHSFLMDFIHQVGLFGRLGSFPVRGTPMATRLLLCEHAEKLSAAIVLKNHHSRLSDLVNTAILIALNKR
  EYEIPSNLTPADVFFREVSQVDTICECLLEHEEQVLRDAPMDSIEWAEVVINVNNILKDMLQAASHYRQNRNSLY
  RREESLEKEPEYVPWTATSGPGGIRTVIIRQHEIVLKVAYPQADSNLRNIVTEQLVALIDCFLDGYVSQLKSVDK
  SSNRERYDNLEMEYLQKRSDLLSPLLSLGQYLWAASLAEKYCDFDILVQMCEQTDNQSRLQRYMTQFADQNFSDF
  LFRWYLEKGKRGKLLSQPISQHGQLANFLQAHEHLSWLHEINSQELEKAHATLLGLANMETRYFAKKKTLLGLSK
  LAALASDFSEDMLQEKIEEMAEQERFLLHQETLPEQLLAEKQLNLSAMPVLTAPQLIGLYICEENRRANEYDFKK
  ALDLLEYIDEEEDININDLKLEILCKALQRDNWSSSDGKDDPIEVSKDSIFVKILQKLLKDGIQLSEYLPEVKDL
  LQADQLGSLKSNPYFEFVLKANYEYYVQGQI

• Structural information:
  • Interpro: IPR007187  IPR037624  IPR015943  
  • PDB: 1XKS 3CQC 3CQG 3I4R 5A9Q
  • PDBsum: 1XKS 3CQC 3CQG 3I4R 5A9Q
  • STRING: ENSP00000261396
• Other Databases: GeneCards:  NUP133  Malacards:  NUP133

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006606	protein import into nucleus	IBA	biological process
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0000972	transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	IBA	biological process
GO:0000777	condensed chromosome kinetochore	IBA	colocalizes with
GO:0031081	nuclear pore distribution	IBA	biological process
GO:0031080	nuclear pore outer ring	IBA	cellular component
GO:0017056	structural constituent of nuclear pore	IBA	molecular function
GO:0006405	RNA export from nucleus	IBA	biological process
GO:0031080	nuclear pore outer ring	IDA	cellular component
GO:0031080	nuclear pore outer ring	IDA	cellular component
GO:0005643	nuclear pore	IDA	cellular component
GO:0000940	condensed chromosome outer kinetochore	IDA	colocalizes with
GO:0000777	condensed chromosome kinetochore	IDA	colocalizes with
GO:0031080	nuclear pore outer ring	NAS	cellular component
GO:0006999	nuclear pore organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0072006	nephron development	IMP	biological process
GO:0017056	structural constituent of nuclear pore	IEA	molecular function
GO:0005643	nuclear pore	IEA	cellular component
GO:0000776	kinetochore	IEA	cellular component
GO:0051028	mRNA transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006409	tRNA export from nucleus	TAS	biological process
GO:0016032	viral process	TAS	biological process
GO:0016925	protein sumoylation	TAS	biological process
GO:0060964	regulation of gene silencing by miRNA	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006110	regulation of glycolytic process	TAS	biological process
GO:0019083	viral transcription	TAS	biological process
GO:0075733	intracellular transport of virus	TAS	biological process
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061053	somite development	IEA	biological process
GO:0022008	neurogenesis	IEA	biological process
GO:0021915	neural tube development	IEA	biological process
GO:0005643	nuclear pore	IEA	cellular component
GO:0048339	paraxial mesoderm development	IEA	biological process
GO:0005643	nuclear pore	IEA	cellular component
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0043657	host cell	IEA	cellular component
GO:0006406	mRNA export from nucleus	IDA	biological process
GO:0005643	nuclear pore	IDA	cellular component
GO:0005643	nuclear pore	IDA	cellular component
GO:0017056	structural constituent of nuclear pore	IDA	molecular function
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport

Diseases

Associated diseases	References
Galloway-Mowat syndrome	KEGG:H01722
Galloway-Mowat syndrome	KEGG:H01722
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq