InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: UPF3B

Summary

InnateDB Protein

IDBP-83989.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

UPF3B

Protein Name

UPF3 regulator of nonsense transcripts homolog B (yeast)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000245418

InnateDB Gene

IDBG-83985 (UPF3B)

Protein Structure

UniProt Annotation

Function

Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2- UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF2 stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA upstream of exon-exon junctions. In vitro, stimulates translation; the function is independent of association with UPF2 and components of the EJC core. {ECO:0000269PubMed:11163187, ECO:0000269PubMed:12718880, ECO:0000269PubMed:16209946, ECO:0000269PubMed:16601204, ECO:0000269PubMed:18066079}.

Subcellular Localization

Nucleus. Cytoplasm. Note=Shuttling between the nucleus and the cytoplasm.

Disease Associations

Mental retardation, X-linked, syndromic, 14 (MRXS14) [MIM:300676]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS14 patients manifest mental retardation associated with other variable signs such as autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities. {ECO:0000269PubMed:17704778}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in testis, uterus, prostate, heart, muscle, brain, spinal cord and placenta. {ECO:0000269PubMed:11113196}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 51 experimentally validated interaction(s) in this database.

Experimentally validated
Total	51 [view]
Protein-Protein	50 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003729	mRNA binding
GO:0005487	nucleocytoplasmic transporter activity
GO:0005515	protein binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0000398	mRNA splicing, via spliceosome
GO:0006366	transcription from RNA polymerase II promoter
GO:0006369	termination of RNA polymerase II transcription
GO:0006406	mRNA export from nucleus
GO:0008380	RNA splicing
GO:0010467	gene expression
GO:0016070	RNA metabolic process
GO:0016071	mRNA metabolic process
GO:0031124	mRNA 3'-end processing
GO:0045727	positive regulation of translation