UPF3B - UPF3B regulator of nonsense mediated mRNA decay Gene

Also Known as MRX62; MRX82; UPF3X; HUPF3B; MRXS14; RENT3B; UPF3BP1; UPF3BP2; UPF3BP3; Upf3p-X

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 65109

About UPF3B

Cytogenetic location: Xq24 Genomic coordinates (GRCh38): X:119,805,311-119,852,963 (from NCBI)

This gene has 3 transcripts (splice variants), 213 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in lymph node (RPKM 5.0), brain (RPKM 4.7) 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 X. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

UPF3B Products (2)

mRNA	Protein	Name
NM_023010.4	NP_075386.1	regulator of nonsense transcripts 3B isoform 2
NM_080632.3	NP_542199.1	regulator of nonsense transcripts 3B isoform 1

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

Biological Process GO Annotation	Evidence	References	Source
involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA IDA: Inferred from direct assay	16601204	GOA
involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP IMP: Inferred from mutant phenotype	18369367	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	11546873	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

UPF3B Protein Structure

Smg4_UPF3

0
100
200
300
400
483 a.a.

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

UPF3B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	UPF3B	Q9BZI7	MAGOH	Homo sapiens	P61326	Anti Tag CoIP	16601204
Intra	UPF3B	Q9BZI7	UPF2	Homo sapiens	Q9HAU5	Anti Bait CoIP	11163187
Intra	UPF3B	Q9BZI7	UPF2	Homo sapiens	Q9HAU5	Y2H	15231747
Intra	UPF3B	Q9BZI7	UPF2	Homo sapiens	Q9HAU5	Anti Tag CoIP	16601204
Intra	UPF3B	Q9BZI7	UPF2	Homo sapiens	Q9HAU5	Anti Tag CoIP	26496610
Intra	UPF3B	Q9BZI7	UPF1	Homo sapiens	Q92900	Anti Tag CoIP	16601204
Intra	UPF3B	Q9BZI7	UPF1	Homo sapiens	Q92900	Anti Bait CoIP	11163187
Intra	UPF3B	Q9BZI7	RBM8A	Homo sapiens	Q9Y5S9	Anti Tag CoIP	16601204
Intra	UPF3B	Q9BZI7	RBM8A	Homo sapiens	Q9Y5S9	Anti Tag CoIP	11546873

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, X-Linked, Syndromic 14	MRXS14 Intellectual Developmental Disorder, X-Linked Syndromic 14 Mental Retardation, X-Linked, Syndromic 14
Syndromic X-Linked Intellectual Disability 14	Lujan Fryns Syndrome Fg Syndrome
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Lujan-Fryns Syndrome X-Linked Intellectual Disability With Marfanoid Habitus MRXSLF Mental Retardation, X-Linked, With Marfanoid Habitus, 1
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Non-Syndromic X-Linked Intellectual Disability 82	Mrx82
Cataract 40	CTRCT40 Cataract 40 With Or Without Microcornea Cct Cataract, Congenital, X-Linked Cataract 40, X-Linked Cataract, Congenital, With Microcornea Or Slight Microphthalmia Cxn Cataract, Congenital Total, With Posterior Sutural Opacities In Heterozygotes Cataract 40 X-Linked Cataract Congenital X-Linked Cataract, Total Congenital Cataract, Total Congenital With Posterior Sutural Opacities In Heterozygotes Congenital Total Cataract With Posterior Sutural Opacities In Heterozygotes X-Linked Congenital Cataract Cataract, Type 40
Pancreatic Adenosquamous Carcinoma	Adenosquamous Carcinoma Of Pancreas Adenosquamous Carcinoma Of The Pancreas
Opitz-Kaveggia Syndrome	Fg Syndrome Fgs1 Fgs Keller Syndrome OKS Fg Syndrome 1 Fg Syndrome Type 1 Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum
Spermatogenic Failure 24	SPGF24
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-RS15485	UPF3B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	UPF3B	VGNC	VGNC:36683
Rattus norvegicus	UPF3B	RGD	RGD:1560264
Mus musculus	UPF3B	MGD	MGI:1915384
Canis familiaris	UPF3B	VGNC	VGNC:48153
Felis catus	UPF3B	VGNC	VGNC:66841
Others	UPF3B	NCBI