UPF3A - UPF3A regulator of nonsense mediated mRNA decay Gene

Homo sapiens

Also known as UPF3; HUPF3A; RENT3A

Gene ID: 65110 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

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

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