• Gene id: 65109

Gene Summary

• Gene Symbol: UPF3B   Gene   UCSC   Ensembl
• Aliases: HUPF3B, MRX62, MRX82, MRXS14, RENT3B, UPF3BP1, UPF3BP2, UPF3BP3, UPF3X, Upf3p-X
• Gene name: UPF3B regulator of nonsense mediated mRNA decay
• Alternate names: regulator of nonsense transcripts 3B, UPF3 regulator of nonsense transcripts homolog B, UPF3B pseudogene 1, UPF3B pseudogene 2, UPF3B pseudogene 3, mental retardation, X-linked 62, nonfunctional UPF3B regulator of nonsense mediated mRNA decay, nonsense mRNA redu,
• Gene location: Xq24 (119853027: 119805310)     Exons: 16     NC_000023.11
• 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: 612793

Protein Summary

• Protein general information: Q9BZI7  
  • Name: Regulator of nonsense transcripts 3B (Nonsense mRNA reducing factor 3B) (Up frameshift suppressor 3 homolog B) (hUpf3B) (Up frameshift suppressor 3 homolog on chromosome X) (hUpf3p X)
  • Length: 483  
  • Mass: 57762
  • Tissue specificity: Expressed in testis, uterus, prostate, heart, muscle, brain, spinal cord and placenta. {ECO
• Sequence:

  MKEEKEHRPKEKRVTLLTPAGATGSGGGTSGDSSKGEDKQDRNKEKKEALSKVVIRRLPPTLTKEQLQEHLQPMP
  EHDYFEFFSNDTSLYPHMYARAYINFKNQEDIILFRDRFDGYVFLDNKGQEYPAIVEFAPFQKAAKKKTKKRDTK
  VGTIDDDPEYRKFLESYATDNEKMTSTPETLLEEIEAKNRELIAKKTTPLLSFLKNKQRMREEKREERRRREIER
  KRQREEERRKWKEEEKRKRKDIEKLKKIDRIPERDKLKDEPKIKVHRFLLQAVNQKNLLKKPEKGDEKELDKREK
  AKKLDKENLSDERASGQSCTLPKRSDSELKDEKPKRPEDESGRDYREREREYERDQERILRERERLKRQEEERRR
  QKERYEKEKTFKRKEEEMKKEKDTLRDKGKKAESTESIGSSEKTEKKEEVVKRDRIRNKDRPAMQLYQPGARSRN
  RLCPPDDSTKSGDSAAERKQESGISHRKEGGEE

• Structural information:
  • Interpro: IPR012677  IPR035979  IPR039722  IPR005120  IPR034979  
  • CDD: cd12728
  • PDB: 1UW4 2XB2
  • PDBsum: 1UW4 2XB2
  • DIP: 31143
  • STRING: ENSP00000276201
• Other Databases: GeneCards:  UPF3B  Malacards:  UPF3B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
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
GO:0005515	protein binding	IPI	molecular function
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA	biological process
GO:0051028	mRNA transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0045727	positive regulation of translation	IBA	biological process
GO:0005730	nucleolus	IBA	cellular component
GO:0003729	mRNA binding	IBA	molecular function
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	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:0005829	cytosol	TAS	cellular component
GO:0006405	RNA export from nucleus	TAS	biological process
GO:0031124	mRNA 3'-end processing	TAS	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: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:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0035145	exon-exon junction complex	IDA	cellular component
GO:0035145	exon-exon junction complex	IDA	cellular component
GO:0045727	positive regulation of translation	IDA	biological process
GO:0035145	exon-exon junction complex	IDA	cellular component
GO:0003729	mRNA binding	IDA	molecular function
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	biological process
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
Syndromic X-linked mental retardation	KEGG:H00658
Syndromic X-linked mental retardation	KEGG:H00658
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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