• Gene id: 5976

Gene Summary

• Gene Symbol: UPF1   Gene   UCSC   Ensembl
• Aliases: HUPF1, NORF1, RENT1, pNORF1, smg-2
• Gene name: UPF1 RNA helicase and ATPase
• Alternate names: regulator of nonsense transcripts 1, ATP-dependent helicase RENT1, UPF1 regulator of nonsense transcripts homolog, delta helicase, nonsense mRNA reducing factor 1, smg-2 homolog, nonsense mediated mRNA decay factor, up-frameshift mutation 1 homolog, up-frameshif,
• Gene location: 19p13.11 (18831404: 18868229)     Exons: 24     NC_000019.10
• Gene summary(Entrez): This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA d
• OMIM: 601430

Protein Summary

• Protein general information: Q92900  
  • Name: Regulator of nonsense transcripts 1 (EC 3.6.4. ) (ATP dependent helicase RENT1) (Nonsense mRNA reducing factor 1) (NORF1) (Up frameshift suppressor 1 homolog) (hUpf1)
  • Length: 1129  
  • Mass: 124345
  • Tissue specificity: Ubiquitous.
• Sequence:

  MSVEAYGPSSQTLTFLDTEEAELLGADTQGSEFEFTDFTLPSQTQTPPGGPGGPGGGGAGGPGGAGAGAAAGQLD
  AQVGPEGILQNGAVDDSVAKTSQLLAELNFEEDEEDTYYTKDLPIHACSYCGIHDPACVVYCNTSKKWFCNGRGN
  TSGSHIVNHLVRAKCKEVTLHKDGPLGETVLECYNCGCRNVFLLGFIPAKADSVVVLLCRQPCASQSSLKDINWD
  SSQWQPLIQDRCFLSWLVKIPSEQEQLRARQITAQQINKLEELWKENPSATLEDLEKPGVDEEPQHVLLRYEDAY
  QYQNIFGPLVKLEADYDKKLKESQTQDNITVRWDLGLNKKRIAYFTLPKTDSGNEDLVIIWLRDMRLMQGDEICL
  RYKGDLAPLWKGIGHVIKVPDNYGDEIAIELRSSVGAPVEVTHNFQVDFVWKSTSFDRMQSALKTFAVDETSVSG
  YIYHKLLGHEVEDVIIKCQLPKRFTAQGLPDLNHSQVYAVKTVLQRPLSLIQGPPGTGKTVTSATIVYHLARQGN
  GPVLVCAPSNIAVDQLTEKIHQTGLKVVRLCAKSREAIDSPVSFLALHNQIRNMDSMPELQKLQQLKDETGELSS
  ADEKRYRALKRTAERELLMNADVICCTCVGAGDPRLAKMQFRSILIDESTQATEPECMVPVVLGAKQLILVGDHC
  QLGPVVMCKKAAKAGLSQSLFERLVVLGIRPIRLQVQYRMHPALSAFPSNIFYEGSLQNGVTAADRVKKGFDFQW
  PQPDKPMFFYVTQGQEEIASSGTSYLNRTEAANVEKITTKLLKAGAKPDQIGIITPYEGQRSYLVQYMQFSGSLH
  TKLYQEVEIASVDAFQGREKDFIILSCVRANEHQGIGFLNDPRRLNVALTRARYGVIIVGNPKALSKQPLWNHLL
  NYYKEQKVLVEGPLNNLRESLMQFSKPRKLVNTINPGARFMTTAMYDAREAIIPGSVYDRSSQGRPSSMYFQTHD
  QIGMISAGPSHVAAMNIPIPFNLVMPPMPPPGYFGQANGPAAGRGTPKGKTGRGGRQKNRFGLPGPSQTNLPNSQ
  ASQDVASQPFSQGALTQGYISMSQPSQMSQPGLSQPELSQDSYLGDEFKSQIDVALSQDSTYQGERAYQHGGVTG
  LSQY

• Structural information:
  • Interpro: IPR041679  IPR041677  IPR040812  IPR006935  IPR027417   IPR018999  
  • PDB: 2GJK 2GK6 2GK7 2IYK 2WJV 2WJY 2XZO 2XZP 6EJ5
  • PDBsum: 2GJK 2GK6 2GK7 2IYK 2WJV 2WJY 2XZO 2XZP 6EJ5
  • DIP: 29875
  • STRING: ENSP00000470142
• Other Databases: GeneCards:  UPF1  Malacards:  UPF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006281	DNA repair	IDA	biological process
GO:0006260	DNA replication	IMP	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0003724	RNA helicase activity	IDA	molecular function
GO:0000785	chromatin	IDA	cellular component
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:0003723	RNA binding	IBA	molecular function
GO:0003724	RNA helicase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IBA	biological process
GO:0071222	cellular response to lipopolysaccharide	IDA	biological process
GO:0044530	supraspliceosomal complex	IDA	cellular component
GO:0035145	exon-exon junction complex	IDA	cellular component
GO:0071347	cellular response to interleukin-1	IDA	biological process
GO:0061158	3'-UTR-mediated mRNA destabilization	IDA	biological process
GO:0061014	positive regulation of mRNA catabolic process	IDA	biological process
GO:0003723	RNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0003724	RNA helicase activity	IDA	molecular function
GO:0000294	nuclear-transcribed mRNA catabolic process, endonucleolytic cleavage-dependent decay	IMP	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0061158	3'-UTR-mediated mRNA destabilization	IMP	biological process
GO:0061014	positive regulation of mRNA catabolic process	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA	biological process
GO:0004386	helicase activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004386	helicase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009048	dosage compensation by inactivation of X chromosome	IEA	biological process
GO:0042162	telomeric DNA binding	IDA	molecular function
GO:0042162	telomeric DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0032201	telomere maintenance via semi-conservative replication	IDA	biological process
GO:0032204	regulation of telomere maintenance	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000932	P-body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0061014	positive regulation of mRNA catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA	biological process
GO:0000956	nuclear-transcribed mRNA catabolic process	IMP	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0044770	cell cycle phase transition	IMP	biological process
GO:0006449	regulation of translational termination	IMP	biological process
GO:0005737	cytoplasm	NAS	cellular component
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:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	NAS	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0006449	regulation of translational termination	NAS	biological process
GO:0003723	RNA binding	NAS	molecular function
GO:0071044	histone mRNA catabolic process	IMP	biological process
GO:0004386	helicase activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport
hsa03015	mRNA surveillance pathway

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)