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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79902
Gene name	Nucleoporin 85
Gene symbol	NUP85
Synonyms (NCBI Gene)	FROUNTNPHS17Nup75
Chromosome	17
Chromosome location	17q25.1
Summary	This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded p

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1568070817	G>A	Pathogenic	Splice donor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT043204	hsa-miR-324-5p	CLASH	23622248
MIRT716281	hsa-miR-596	HITS-CLIP	19536157
MIRT716280	hsa-miR-5584-5p	HITS-CLIP	19536157
MIRT716279	hsa-miR-6750-5p	HITS-CLIP	19536157
MIRT716278	hsa-miR-6822-5p	HITS-CLIP	19536157
MIRT716277	hsa-miR-9500	HITS-CLIP	19536157
MIRT716276	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT716275	hsa-miR-4763-5p	HITS-CLIP	19536157
MIRT716274	hsa-miR-4312	HITS-CLIP	19536157
MIRT716273	hsa-miR-6077	HITS-CLIP	19536157
MIRT661812	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT661811	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT661810	hsa-miR-940	HITS-CLIP	23824327
MIRT661809	hsa-miR-3929	HITS-CLIP	23824327
MIRT661808	hsa-miR-4419b	HITS-CLIP	23824327
MIRT661807	hsa-miR-4478	HITS-CLIP	23824327
MIRT661806	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT661805	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT661804	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT661803	hsa-miR-1827	HITS-CLIP	23824327
MIRT661802	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT661801	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT661800	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT661799	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT661798	hsa-miR-665	HITS-CLIP	23824327
MIRT716281	hsa-miR-596	HITS-CLIP	19536157
MIRT716280	hsa-miR-5584-5p	HITS-CLIP	19536157
MIRT716279	hsa-miR-6750-5p	HITS-CLIP	19536157
MIRT716278	hsa-miR-6822-5p	HITS-CLIP	19536157
MIRT716277	hsa-miR-9500	HITS-CLIP	19536157
MIRT716276	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT716275	hsa-miR-4763-5p	HITS-CLIP	19536157
MIRT716274	hsa-miR-4312	HITS-CLIP	19536157
MIRT716273	hsa-miR-6077	HITS-CLIP	19536157
MIRT661812	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT661811	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT661810	hsa-miR-940	HITS-CLIP	23824327
MIRT661809	hsa-miR-3929	HITS-CLIP	23824327
MIRT661808	hsa-miR-4419b	HITS-CLIP	23824327
MIRT661807	hsa-miR-4478	HITS-CLIP	23824327
MIRT661806	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT661805	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT661804	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT661803	hsa-miR-1827	HITS-CLIP	23824327
MIRT661802	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT661801	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT661800	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT661799	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT661798	hsa-miR-665	HITS-CLIP	23824327

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IDA	15146057
GO:0000776	Component	Kinetochore	IEA
GO:0005515	Function	Protein binding	IPI	15146057, 24315095, 25283965, 26391640, 26496610, 27194810, 30179222, 32296183, 33961781, 34819669
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	24315095
GO:0005635	Component	Nuclear envelope	TAS
GO:0005643	Component	Nuclear pore	IEA
GO:0005643	Component	Nuclear pore	NAS	24315095
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006406	Process	MRNA export from nucleus	IBA
GO:0006606	Process	Protein import into nucleus	IBA
GO:0006913	Process	Nucleocytoplasmic transport	NAS	27016207
GO:0006935	Process	Chemotaxis	IEA
GO:0015031	Process	Protein transport	IEA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0017056	Function	Structural constituent of nuclear pore	IBA
GO:0030032	Process	Lamellipodium assembly	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	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IBA
GO:0048246	Process	Macrophage chemotaxis	IEA
GO:0051028	Process	MRNA transport	IEA
GO:0072006	Process	Nephron development	IMP	30179222

MIM	HGNC	e!Ensembl
170285	8734	ENSG00000125450

Q9BW27

Protein name

Nuclear pore complex protein Nup85 (85 kDa nucleoporin) (FROUNT) (Nucleoporin Nup75) (Nucleoporin Nup85) (Pericentrin-1)

Protein function

Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance (PubMed:12718872). As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP96/Nup98 and NUP153 to th

PDB

5A9Q , 7PEQ , 7R5J , 7R5K

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07575	Nucleopor_Nup85	53 → 606	Nup85 Nucleoporin	Family

Sequence

MEELDGEPTVTLIPGVNSKKNQMYFDWGPGEMLVCETSFNKKEKSEMVPSCPFIYIIRKD
VDVYSQILRKLFNESHGIFLGLQRIDEELTGKSRKSQLVRVSKNYRSVIRACMEEMHQVA
IAAKDPANGRQFSSQVSILSAMELIWNLCEILFIEVAPAGPLLLHLLDWVRLHVCEVDSL
SADVLGSENPSKHDSFWNLVTILVLQGRLDEARQMLSKEADASPASAGICRIMGDLMRTM
PILSPGNTQTLTELELKWQHWHEECERYLQDSTFATSPHLESLLKIMLGDEAALLEQKEL
LSNWYHFLVTRLLYSNPTVKPIDLHYYAQSSLDLFLGGESSPEPLDNILLAAFEFDIHQV
IKECSIALSNWWFVAHLTDLLDHCKLLQSHNLYFGSNMREFLLLEYASGLFAHPSLWQLG
VDYFDYCPELGRVSLELHIERIPLNTEQKALKVLRICEQRQMTEQVRSICKILAMKAVRN
NRLGSALSWSIRAKDAAFATLVSDRFLRDYCERGCFSDLDLIDNLGPAMMLSDRLTFLGK
YREFHRMYGEKRFADAASLLLSLMTSRIAPRSFWMTLLTDALPLLEQKQVIFSAEQTYEL
MRCLEDLTSRRPVHGESDTEQLQDDDIETTKVEMLRLSLARNLARAIIREGSLEGS

Sequence length

656

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Nephrotic syndrome, type 17	Likely pathogenic; Pathogenic	rs1159700153, rs368572297, rs1568070817, rs1321552081	RCV005241612 RCV000721155 RCV000721156 RCV000721157	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NUP85-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECKEL SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	17395051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Genetic steroid-resistant nephrotic syndrome	Genetic Steroid-Resistant Nephrotic Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immune System Diseases	Immune System Diseases	BEFREE	15995708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	34170319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	ORPHANET_DG	30179222		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, TYPE 17	Nephrotic Syndrome	CLINVAR_DG	30179222		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHROTIC SYNDROME, TYPE 17	Nephrotic Syndrome	UNIPROT_DG	30179222		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHROTIC SYNDROME, TYPE 17	Nephrotic Syndrome	GENOMICS_ENGLAND_DG	30179222		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	GWASCAT_DG	31672989		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

NUP85 (nucleoporin 85)