• Gene id: 65110

Gene Summary

• Gene Symbol: UPF3A   Gene   UCSC   Ensembl
• Aliases: HUPF3A, RENT3A, UPF3
• Gene name: UPF3A regulator of nonsense mediated mRNA decay
• Alternate names: regulator of nonsense transcripts 3A, UPF3 regulator of nonsense transcripts homolog A, hUpf3, nonsense mRNA reducing factor 3A, up-frameshift suppressor 3 homolog A,
• Gene location: 13q34 (10164918: 10243744)     Exons: 13     NC_000003.12
• 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. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs wit
• OMIM: 605530

Protein Summary

• Protein general information: Q9H1J1  
  • Name: Regulator of nonsense transcripts 3A (Nonsense mRNA reducing factor 3A) (Up frameshift suppressor 3 homolog A) (hUpf3)
  • Length: 476  
  • Mass: 54696
  • Tissue specificity: Isoform 1 is strongly expressed in testis, uterus, muscle, fetal brain and spinal cord. Isoform 2 is strongly expressed in fetal brain and spinal cord. {ECO
• Sequence:

  MRSEKEGAGGLRAAVAARGPSGREKLSALEVQFHRDSQQQEAETPPTSSSGCGGGAGKPREEKRTALSKVVIRRL
  PPGLTKEQLEEQLRPLPAHDYFEFFAADLSLYPHLYSRAYINFRNPDDILLFRDRFDGYIFLDSKGLEYPAVVEF
  APFQKIAKKKLRKKDAKTGSIEDDPEYKKFLETYCVEEEKTSANPETLLGEMEAKTRELIARRTTPLLEYIKNRK
  LEKQRIREEKREERRRRELEKKRLREEEKRRRREEERCKKKETDKQKKIAEKEVRIKLLKKPEKGEEPTTEKPKE
  RGEEIDTGGGKQESCAPGAVVKARPMEGSLEEPQETSHSGSDKEHRDVERSQEQESEAQRYHVDDGRRHRAHHEP
  ERLSRRSEDEQRWGKGPGQDRGKKGSQDSGAPGEAMERLGRAQRCDDSPAPRKERLANKDRPALQLYDPGARFRA
  RECGGNRRICKAEGSGTGPEKREEAE

• Structural information:
  • Interpro: IPR012677  IPR035979  IPR039722  IPR005120  IPR034978  
  • PDB: 2L08
  • PDBsum: 2L08
  • DIP: 31146
  • STRING: ENSP00000364448
• Other Databases: GeneCards:  UPF3A  Malacards:  UPF3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045727	positive regulation of translation	IBA	biological process
GO:0005730	nucleolus	IBA	cellular component
GO:0042162	telomeric DNA binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0045727	positive regulation of translation	IDA	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA	NOT|biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0051028	mRNA transport	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
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: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:0042162	telomeric DNA binding	IDA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0035145	exon-exon junction complex	IDA	cellular component
GO:0035145	exon-exon junction complex	TAS	cellular component
GO:0006913	nucleocytoplasmic transport	IEA	biological process
GO:0005737	cytoplasm	NAS	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0017056	structural constituent of nuclear pore	NAS	molecular function
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport
hsa03015	mRNA surveillance pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq