NUP85 (nucleoporin 85)

Gene

• Entrez ID: 79902
• Gene name: Nucleoporin 85
• Gene symbol: NUP85
• Synonyms (NCBI Gene): FROUNT, NPHS17, Nup75
• Disease Acronyms (UniProt): NPHS17
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000776	Component	Kinetochore	IDA	15146057
GO:0000777	Component	Condensed chromosome kinetochore	IEA
GO:0005515	Function	Protein binding	IPI	15146057, 24315095, 25283965, 26391640, 26496610, 27194810, 32296183
GO:0005635	Component	Nuclear envelope	TAS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006110	Process	Regulation of glycolytic process	TAS
GO:0006406	Process	MRNA export from nucleus	IBA	21873635
GO:0006406	Process	MRNA export from nucleus	TAS
GO:0006409	Process	TRNA export from nucleus	TAS
GO:0006606	Process	Protein import into nucleus	IBA	21873635
GO:0016020	Component	Membrane	HDA	19946888
GO:0016032	Process	Viral process	TAS
GO:0016925	Process	Protein sumoylation	TAS
GO:0017056	Function	Structural constituent of nuclear pore	IBA	21873635
GO:0019083	Process	Viral transcription	TAS
GO:0030032	Process	Lamellipodium assembly	IEA
GO:0031080	Component	Nuclear pore outer ring	IBA	21873635
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:0043657	Component	Host cell	IEA
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IBA	21873635
GO:0048246	Process	Macrophage chemotaxis	IEA
GO:0060964	Process	Regulation of gene silencing by miRNA	TAS
GO:0072006	Process	Nephron development	IMP	30179222
GO:0075733	Process	Intracellular transport of virus	TAS
GO:1900034	Process	Regulation of cellular response to heat	TAS

Other IDs

• MIM: 170285
• HGNC: 8734
• e!Ensembl: ENSG00000125450

Protein

• UniProt ID: 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

Pathways

KEGG:

Nucleocytoplasmic transport
Amyotrophic lateral sclerosis

Reactome:

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

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Kidney disease	Chronic kidney disease stage 5	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Nephrotic syndrome	NEPHROTIC SYNDROME, TYPE 17	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391	30179222
Steroid resistant nephrotic syndrome	Steroid resistant nephrotic syndrome of childhood	rs74315342, rs74315343, rs74315347, rs74315348, rs202128397, rs879255251, rs775170915, rs749740335, rs530318579, rs778055996, rs775006954, rs1291398331, rs748812981, rs1334894971, rs763782471, rs138047529, rs1196820381

Unknown
Disease term	Disease name	Evidence	References	Source
Nephrotic Syndrome	familial idiopathic steroid-resistant nephrotic syndrome, nephrotic syndrome, type 17			GenCC
Diabetes	Diabetes			GWAS
Alzheimer disease	Alzheimer disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Nephrotic Syndrome	Associate	34170319