UPF3A - UPF3A regulator of nonsense mediated mRNA decay Gene

Also Known as UPF3; HUPF3A; RENT3A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 65110

About UPF3A

Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:114,281,601-114,305,817 (from NCBI)

This gene has 12 transcripts (splice variants), 195 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 21.9), thyroid (RPKM 13.7) and 25 other tissues.

Summary

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 with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

UPF3A Products (11)

mRNA	Protein	Name
NM_001353644.2	NP_001340573.1	regulator of nonsense transcripts 3A isoform c
NM_001353645.1	NP_001340574.1	regulator of nonsense transcripts 3A isoform c
NM_001353646.1	NP_001340575.1	regulator of nonsense transcripts 3A isoform c
NM_001353647.1	NP_001340576.1	regulator of nonsense transcripts 3A isoform c
NM_001353648.2	NP_001340577.1	regulator of nonsense transcripts 3A isoform c
NM_001353649.1	NP_001340578.1	regulator of nonsense transcripts 3A isoform d
NM_001353650.1	NP_001340579.1	regulator of nonsense transcripts 3A isoform d
NM_001353651.2	NP_001340580.1	regulator of nonsense transcripts 3A isoform e
NM_001353652.2	NP_001340581.1	regulator of nonsense transcripts 3A isoform f
NM_023011.4	NP_075387.1	regulator of nonsense transcripts 3A isoform hUpf3p
NM_080687.3	NP_542418.1	regulator of nonsense transcripts 3A isoform hUpf3pdelta

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables mRNA binding	IDA IDA: Inferred from direct assay	11163187	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11163187	GOA
enables telomeric DNA binding	IDA IDA: Inferred from direct assay	17916692	GOA

Biological Process GO Annotation	Evidence	References	Source
NOT involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA IDA: Inferred from direct assay	16601204	GOA
involved in positive regulation of translation	IDA IDA: Inferred from direct assay	16601204	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of exon-exon junction complex	IDA IDA: Inferred from direct assay	16601204	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UPF3A Protein Structure

Smg4_UPF3

0
100
200
300
400
476 a.a.

Protein Preferred Names	Protein Names
regulator of nonsense transcripts 3A	UPF3 regulator of nonsense transcripts homolog A

UPF3A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	UPF3A	Q9H1J1	UPF3B	Homo sapiens	Q9BZI7-2	Pull Down	19503078
Intra	UPF3A	Q9H1J1	UPF2	Homo sapiens	Q9HAU5	Pull Down	19503078
Intra	UPF3A	Q9H1J1	UPF2	Homo sapiens	Q9HAU5	Anti Bait CoIP	11163187
Intra	UPF3A	Q9H1J1	UPF1	Homo sapiens	Q92900	Anti Bait CoIP	11163187
Intra	UPF3A	Q9H1J1	RBM8A	Homo sapiens	Q9Y5S9	Anti Tag CoIP	11546873

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Chromosome 1q21.1 Duplication Syndrome	1q21.1 Microduplication Syndrome Trisomy 1q21.1 1q21.1 Duplication Syndrome 1q21.1 Microduplication 1q21.1 Duplication Dup(1)(Q21.1)
Non-Syndromic X-Linked Intellectual Disability 82	Mrx82
Pancreatic Adenosquamous Carcinoma	Adenosquamous Carcinoma Of Pancreas Adenosquamous Carcinoma Of The Pancreas
Metaphyseal Chondrodysplasia, Schmid Type	MCDS Schmid Metaphyseal Chondrodysplasia Metaphyseal Chondrodysplasia Schmid Type Spondylometaphyseal Dysplasia, Japanese Type Japanese Type Spondylometaphyseal Dysplasia Schmid Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia Type Schmid Schmid Type Metaphyseal Chondrodysplasia SMCD Chondrodysplasia, Metaphyseal, Schmid Type Corneal Dystrophy, Subepithelial Mucinous

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15484	UPF3A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	UPF3A	VGNC	VGNC:36682
Canis familiaris	UPF3A	VGNC	VGNC:48152
Mus musculus	UPF3A	MGD	MGI:1914281
Macaca mulatta	UPF3A	VGNC	VGNC:79244
Felis catus	UPF3A	VGNC	VGNC:66840
Rattus norvegicus	UPF3A	RGD	RGD:1308778
Others	UPF3A	NCBI