UPF3B - UPF3B regulator of nonsense mediated mRNA decay Gene

Homo sapiens

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

Gene ID: 65109 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15485	UPF3B Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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