Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55746
Gene name Gene Name - the full gene name approved by the HGNC.	Nucleoporin 133
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NUP133
Synonyms (NCBI Gene) Gene synonyms aliases	GAMOS8, NPHS18, hNUP133
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q42.13
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs376476266	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1433513056	A>G,T	Pathogenic	Intron variant
rs1558091788	A>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1558108130	G>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant

Show/Hide all(163)

miRTarBase ID	miRNA	Experiments	Reference
MIRT035996	hsa-miR-1301-3p	CLASH	23622248
MIRT461348	hsa-miR-590-3p	PAR-CLIP	23592263
MIRT461347	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT461346	hsa-miR-3126-3p	PAR-CLIP	23592263
MIRT461345	hsa-miR-1298-3p	PAR-CLIP	23592263
MIRT461344	hsa-miR-1289	PAR-CLIP	23592263
MIRT461342	hsa-miR-4294	PAR-CLIP	23592263
MIRT461343	hsa-miR-516b-5p	PAR-CLIP	23592263
MIRT461341	hsa-miR-3198	PAR-CLIP	23592263
MIRT461340	hsa-miR-4309	PAR-CLIP	23592263
MIRT461339	hsa-miR-1303	PAR-CLIP	23592263
MIRT440074	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT440074	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT727057	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT727056	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT461348	hsa-miR-590-3p	PAR-CLIP	23592263
MIRT461347	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT461346	hsa-miR-3126-3p	PAR-CLIP	23592263
MIRT461345	hsa-miR-1298-3p	PAR-CLIP	23592263
MIRT461344	hsa-miR-1289	PAR-CLIP	23592263
MIRT461342	hsa-miR-4294	PAR-CLIP	23592263
MIRT461343	hsa-miR-516b-5p	PAR-CLIP	23592263
MIRT461341	hsa-miR-3198	PAR-CLIP	23592263
MIRT461340	hsa-miR-4309	PAR-CLIP	23592263
MIRT461339	hsa-miR-1303	PAR-CLIP	23592263
MIRT1198986	hsa-miR-3607-5p	CLIP-seq
MIRT1198987	hsa-miR-4468	CLIP-seq
MIRT1198988	hsa-miR-4666-5p	CLIP-seq
MIRT1198989	hsa-miR-516b	CLIP-seq
MIRT1198990	hsa-miR-646	CLIP-seq
MIRT2057678	hsa-miR-128	CLIP-seq
MIRT2057679	hsa-miR-130a	CLIP-seq
MIRT2057680	hsa-miR-130b	CLIP-seq
MIRT2057681	hsa-miR-142-5p	CLIP-seq
MIRT2057682	hsa-miR-224	CLIP-seq
MIRT2057683	hsa-miR-27a	CLIP-seq
MIRT2057684	hsa-miR-27b	CLIP-seq
MIRT2057685	hsa-miR-301a	CLIP-seq
MIRT2057686	hsa-miR-301b	CLIP-seq
MIRT2057687	hsa-miR-340	CLIP-seq
MIRT2057688	hsa-miR-3649	CLIP-seq
MIRT2057689	hsa-miR-3666	CLIP-seq
MIRT2057690	hsa-miR-3685	CLIP-seq
MIRT2057691	hsa-miR-4295	CLIP-seq
MIRT2057692	hsa-miR-454	CLIP-seq
MIRT2057693	hsa-miR-4729	CLIP-seq
MIRT2057694	hsa-miR-489	CLIP-seq
MIRT2057695	hsa-miR-516a-3p	CLIP-seq
MIRT2057696	hsa-miR-545	CLIP-seq
MIRT2057697	hsa-miR-548aa	CLIP-seq
MIRT2057698	hsa-miR-548p	CLIP-seq
MIRT2057699	hsa-miR-570	CLIP-seq
MIRT2057700	hsa-miR-656	CLIP-seq
MIRT2057701	hsa-miR-659	CLIP-seq
MIRT2057702	hsa-miR-9	CLIP-seq
MIRT2057703	hsa-miR-935	CLIP-seq
MIRT2286039	hsa-miR-1236	CLIP-seq
MIRT2286040	hsa-miR-125a-3p	CLIP-seq
MIRT2057679	hsa-miR-130a	CLIP-seq
MIRT2057680	hsa-miR-130b	CLIP-seq
MIRT2286041	hsa-miR-148a	CLIP-seq
MIRT2286042	hsa-miR-148b	CLIP-seq
MIRT2286043	hsa-miR-152	CLIP-seq
MIRT2286044	hsa-miR-19a	CLIP-seq
MIRT2286045	hsa-miR-19b	CLIP-seq
MIRT2057682	hsa-miR-224	CLIP-seq
MIRT2057685	hsa-miR-301a	CLIP-seq
MIRT2057686	hsa-miR-301b	CLIP-seq
MIRT2286046	hsa-miR-3148	CLIP-seq
MIRT2057689	hsa-miR-3666	CLIP-seq
MIRT2286047	hsa-miR-376a	CLIP-seq
MIRT2286048	hsa-miR-376b	CLIP-seq
MIRT2286049	hsa-miR-3934	CLIP-seq
MIRT2286050	hsa-miR-3973	CLIP-seq
MIRT2286051	hsa-miR-4276	CLIP-seq
MIRT2057691	hsa-miR-4295	CLIP-seq
MIRT2057692	hsa-miR-454	CLIP-seq
MIRT2286052	hsa-miR-4717-3p	CLIP-seq
MIRT2286053	hsa-miR-4753-3p	CLIP-seq
MIRT1198989	hsa-miR-516b	CLIP-seq
MIRT2286054	hsa-miR-518a-5p	CLIP-seq
MIRT2286055	hsa-miR-527	CLIP-seq
MIRT2057697	hsa-miR-548aa	CLIP-seq
MIRT2286056	hsa-miR-548l	CLIP-seq
MIRT2057699	hsa-miR-570	CLIP-seq
MIRT2286057	hsa-miR-642b	CLIP-seq
MIRT2286058	hsa-miR-764	CLIP-seq
MIRT2057703	hsa-miR-935	CLIP-seq
MIRT2286040	hsa-miR-125a-3p	CLIP-seq
MIRT2286046	hsa-miR-3148	CLIP-seq
MIRT2286049	hsa-miR-3934	CLIP-seq
MIRT2286057	hsa-miR-642b	CLIP-seq
MIRT2286058	hsa-miR-764	CLIP-seq
MIRT2286039	hsa-miR-1236	CLIP-seq
MIRT2286040	hsa-miR-125a-3p	CLIP-seq
MIRT2057678	hsa-miR-128	CLIP-seq
MIRT2057679	hsa-miR-130a	CLIP-seq
MIRT2057680	hsa-miR-130b	CLIP-seq
MIRT2286041	hsa-miR-148a	CLIP-seq
MIRT2286042	hsa-miR-148b	CLIP-seq
MIRT2286043	hsa-miR-152	CLIP-seq
MIRT2286044	hsa-miR-19a	CLIP-seq
MIRT2286045	hsa-miR-19b	CLIP-seq
MIRT2057682	hsa-miR-224	CLIP-seq
MIRT2057683	hsa-miR-27a	CLIP-seq
MIRT2057684	hsa-miR-27b	CLIP-seq
MIRT2057685	hsa-miR-301a	CLIP-seq
MIRT2057686	hsa-miR-301b	CLIP-seq
MIRT2286046	hsa-miR-3148	CLIP-seq
MIRT2583972	hsa-miR-325	CLIP-seq
MIRT2057689	hsa-miR-3666	CLIP-seq
MIRT2286047	hsa-miR-376a	CLIP-seq
MIRT2286048	hsa-miR-376b	CLIP-seq
MIRT2286049	hsa-miR-3934	CLIP-seq
MIRT2286050	hsa-miR-3973	CLIP-seq
MIRT2286051	hsa-miR-4276	CLIP-seq
MIRT2057691	hsa-miR-4295	CLIP-seq
MIRT2057692	hsa-miR-454	CLIP-seq
MIRT2583973	hsa-miR-4671-3p	CLIP-seq
MIRT2286053	hsa-miR-4753-3p	CLIP-seq
MIRT2583974	hsa-miR-4775	CLIP-seq
MIRT2583975	hsa-miR-494	CLIP-seq
MIRT1198989	hsa-miR-516b	CLIP-seq
MIRT2286054	hsa-miR-518a-5p	CLIP-seq
MIRT2286055	hsa-miR-527	CLIP-seq
MIRT2057697	hsa-miR-548aa	CLIP-seq
MIRT2286056	hsa-miR-548l	CLIP-seq
MIRT2057699	hsa-miR-570	CLIP-seq
MIRT2583976	hsa-miR-628-3p	CLIP-seq
MIRT2286057	hsa-miR-642b	CLIP-seq
MIRT2286058	hsa-miR-764	CLIP-seq
MIRT2057703	hsa-miR-935	CLIP-seq
MIRT2286039	hsa-miR-1236	CLIP-seq
MIRT2286040	hsa-miR-125a-3p	CLIP-seq
MIRT2057678	hsa-miR-128	CLIP-seq
MIRT2057679	hsa-miR-130a	CLIP-seq
MIRT2057680	hsa-miR-130b	CLIP-seq
MIRT2286041	hsa-miR-148a	CLIP-seq
MIRT2286042	hsa-miR-148b	CLIP-seq
MIRT2286043	hsa-miR-152	CLIP-seq
MIRT2286044	hsa-miR-19a	CLIP-seq
MIRT2286045	hsa-miR-19b	CLIP-seq
MIRT2057683	hsa-miR-27a	CLIP-seq
MIRT2057684	hsa-miR-27b	CLIP-seq
MIRT2057685	hsa-miR-301a	CLIP-seq
MIRT2057686	hsa-miR-301b	CLIP-seq
MIRT2286046	hsa-miR-3148	CLIP-seq
MIRT2057689	hsa-miR-3666	CLIP-seq
MIRT2286049	hsa-miR-3934	CLIP-seq
MIRT2286050	hsa-miR-3973	CLIP-seq
MIRT2286051	hsa-miR-4276	CLIP-seq
MIRT2057691	hsa-miR-4295	CLIP-seq
MIRT2057692	hsa-miR-454	CLIP-seq
MIRT2286053	hsa-miR-4753-3p	CLIP-seq
MIRT2583975	hsa-miR-494	CLIP-seq
MIRT2286054	hsa-miR-518a-5p	CLIP-seq
MIRT2286055	hsa-miR-527	CLIP-seq
MIRT2057697	hsa-miR-548aa	CLIP-seq
MIRT2286056	hsa-miR-548l	CLIP-seq
MIRT2057699	hsa-miR-570	CLIP-seq
MIRT2286057	hsa-miR-642b	CLIP-seq
MIRT2286058	hsa-miR-764	CLIP-seq
MIRT2057703	hsa-miR-935	CLIP-seq

Show/Hide all(35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IDA	17098863
GO:0000776	Component	Kinetochore	IEA
GO:0000972	Process	Transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	IBA
GO:0005515	Function	Protein binding	IPI	11564755, 15146057, 17363900, 24315095, 24725412, 24947832, 26411495, 26496610, 27194810, 30179222, 31046837, 33961781, 34819669, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	24315095
GO:0005635	Component	Nuclear envelope	TAS
GO:0005643	Component	Nuclear pore	IDA	11564755, 11684705, 17098863
GO:0005643	Component	Nuclear pore	IEA
GO:0005643	Component	Nuclear pore	NAS	24315095
GO:0005694	Component	Chromosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006406	Process	MRNA export from nucleus	IDA	11684705
GO:0006606	Process	Protein import into nucleus	IBA
GO:0006913	Process	Nucleocytoplasmic transport	NAS	27016207
GO:0006999	Process	Nuclear pore organization	IMP	15146057
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016973	Process	Poly(A)+ mRNA export from nucleus	IBA
GO:0017056	Function	Structural constituent of nuclear pore	IBA
GO:0017056	Function	Structural constituent of nuclear pore	IDA	11684705
GO:0017056	Function	Structural constituent of nuclear pore	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0031080	Component	Nuclear pore outer ring	IBA
GO:0031080	Component	Nuclear pore outer ring	IDA	15146057, 17360435
GO:0031080	Component	Nuclear pore outer ring	NAS	17363900
GO:0031965	Component	Nuclear membrane	IDA
GO:0048339	Process	Paraxial mesoderm development	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048731	Process	System development	IEA
GO:0051028	Process	MRNA transport	IEA
GO:0061053	Process	Somite development	IEA
GO:0072006	Process	Nephron development	IMP	30179222

MIM	HGNC	e!Ensembl
607613	18016	ENSG00000069248

Protein

UniProt ID

Q8WUM0

Protein name

Nuclear pore complex protein Nup133 (133 kDa nucleoporin) (Nucleoporin Nup133)

Protein function

Involved in poly(A)+ RNA transport. Involved in nephrogenesis (PubMed:30179222).

PDB

1XKS , 3CQC , 3CQG , 3I4R , 5A9Q , 7PEQ , 7R5J , 7R5K

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03177	Nucleoporin_C	594 → 1024	Non-repetitive/WGA-negative nucleoporin C-terminal	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues. Expressed in the brain and kidney. {ECO:0000269|PubMed:30427554}.

Sequence

MFPAAPSPRTPGTGSRRGPLAGLGPGSTPRTASRKGLPLGSAVSSPVLFSPVGRRSSLSS
RGTPTRMFPHHSITESVNYDVKTFGSSLPVKVMEALTLAEVDDQLTINIDEGGWACLVCK
EKLIIWKIALSPITKLSVCKELQLPPSDFHWSADLVALSYSSPSGEAHSTQAVAVMVATR
EGSIRYWPSLAGEDTYTEAFVDSGGDKTYSFLTAVQGGSFILSSSGSQLIRLIPESSGKI
HQHILPQGQGMLSGIGRKVSSLFGILSPSSDLTLSSVLWDRERSSFYSLTSSNISKWELD
DSSEKHAYSWDINRALKENITDAIWGSESNYEAIKEGVNIRYLDLKQNCDGLVILAAAWH
SADNPCLIYYSLITIEDNGCQMSDAVTVEVTQYNPPFQSEDLILCQLTVPNFSNQTAYLY
NESAVYVCSTGTGKFSLPQEKIVFNAQGDSVLGAGACGGVPIIFSRNSGLVSITSRENVS
ILAEDLEGSLASSVAGPNSESMIFETTTKNETIAQEDKIKLLKAAFLQYCRKDLGHAQMV
VDELFSSHSDLDSDSELDRAVTQISVDLMDDYPASDPRWAESVPEEAPGFSNTSLIILHQ
LEDKMKAHSFLMDFIHQVGLFGRLGSFPVRGTPMATRLLLCEHAEKLSAAIVLKNHHSRL
SDLVNTAILIALNKREYEIPSNLTPADVFFREVSQVDTICECLLEHEEQVLRDAPMDSIE
WAEVVINVNNILKDMLQAASHYRQNRNSLYRREESLEKEPEYVPWTATSGPGGIRTVIIR
QHEIVLKVAYPQADSNLRNIVTEQLVALIDCFLDGYVSQLKSVDKSSNRERYDNLEMEYL
QKRSDLLSPLLSLGQYLWAASLAEKYCDFDILVQMCEQTDNQSRLQRYMTQFADQNFSDF
LFRWYLEKGKRGKLLSQPISQHGQLANFLQAHEHLSWLHEINSQELEKAHATLLGLANME
TRYFAKKKTLLGLSKLAALASDFSEDMLQEKIEEMAEQERFLLHQETLPEQLLAEKQLNL
SAMPVLTAPQLIGLYICEENRRANEYDFKKALDLLEYIDEEEDININDLKLEILCKALQR
DNWSSSDGKDDPIEVSKDSIFVKILQKLLKDGIQLSEYLPEVKDLLQADQLGSLKSNPYF
EFVLKANYEYYVQGQI

Sequence length

1156

Interactions

View interactions

	KEGG		Reactome
	Nucleocytoplasmic transport Amyotrophic lateral sclerosis		ISG15 antiviral mechanism Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Transport of the SLBP independent Mature mRNA Transport of the SLBP Dependant Mature mRNA Transport of Mature mRNA Derived from an Intronless Transcript Transport of Mature mRNA derived from an Intron-Containing Transcript Rev-mediated nuclear export of HIV RNA Transport of Ribonucleoproteins into the Host Nucleus NS1 Mediated Effects on Host Pathways Viral Messenger RNA Synthesis NEP/NS2 Interacts with the Cellular Export Machinery Regulation of Glucokinase by Glucokinase Regulatory Protein Vpr-mediated nuclear import of PICs snRNP Assembly Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion SUMOylation of DNA damage response and repair proteins SUMOylation of ubiquitinylation proteins Nuclear Pore Complex (NPC) Disassembly Regulation of HSF1-mediated heat shock response SUMOylation of SUMOylation proteins SUMOylation of chromatin organization proteins SUMOylation of RNA binding proteins SUMOylation of DNA replication proteins Transcriptional regulation by small RNAs Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) RHO GTPases Activate Formins tRNA processing in the nucleus Mitotic Prometaphase HCMV Early Events HCMV Late Events Postmitotic nuclear pore complex (NPC) reformation EML4 and NUDC in mitotic spindle formation

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Galloway-Mowat Syndrome	Galloway-Mowat syndrome 8	rs1433513056	N/A
Nephrotic Syndrome	nephrotic syndrome, type 18	rs1558108130, rs1558091788	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Stress Disorder	Post-traumatic stress disorder	N/A	N/A	GWAS

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Brain Diseases	Associate	36755238
Death Sudden	Associate	25602437
Glomerulosclerosis Focal Segmental	Associate	37565816
Microcephaly	Associate	36755238
Nephrotic Syndrome	Associate	35455939
Niemann Pick Disease Type C	Associate	25602437

NUP133 (nucleoporin 133)