UPF3B

The information on this page was automatically extracted from online scientific databases.

What is the official name of the UPF3B gene?

The official name of this gene is “UPF3 regulator of nonsense transcripts homolog B (yeast).”

UPF3B is the gene's official symbol. The UPF3B gene is also known by other names, listed below.

What is the normal function of the UPF3B gene?

From Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/65109):: 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]
From UniProt (http://www.uniprot.org/uniprot/Q9BZI7):: 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 indepenedent of association with UPF2 and components of the EJC core.

How are changes in the UPF3B gene related to health conditions?

Genetics Home Reference provides information about FG syndrome, which is associated with changes in the UPF3B gene.

UniProt (http://www.uniprot.org/uniprot/Q9BZI7) provides the following information about the UPF3B gene's known or predicted involvement in human disease.

Mental retardation, X-linked, syndromic, 14 (MRXS14)^[1]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/65109) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the UPF3B gene.

X-linked mental retardation, syndromic 14^[1]

UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.

	Article Number	Main Topic
[1]	300676 (http://omim.org/entry/300676)	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14
	300298 (http://omim.org/entry/300298)	UPF3, YEAST, HOMOLOG OF, B

Where is the UPF3B gene located?

Cytogenetic Location: Xq25-q26

Molecular Location on the X chromosome: base pairs 118,967,988 to 118,986,990

The UPF3B gene is located on the long (q) arm of the X chromosome between positions 25 and 26.

More precisely, the UPF3B gene is located from base pair 118,967,988 to base pair 118,986,990 on the X chromosome.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about UPF3B?

You and your healthcare professional may find the following resources about UPF3B helpful.

Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for UPF3B (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65109%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

OMIM - Genetic disorder catalog
- UPF3, YEAST, HOMOLOG OF, B (http://omim.org/entry/300298)
- MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (http://omim.org/entry/300676)
Research Resources - Tools for researchers
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/65109)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id=65109&id_type=entrezgene)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=20439)
- UniProt (http://www.uniprot.org/uniprot/Q9BZI7)

What other names do people use for the UPF3B gene or gene products?

HUPF3B
MRXS14
RENT3B
UPF3X

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding UPF3B?

chromosome ; degrade ; exon ; gene ; helicase ; homologs ; in vitro ; isoforms ; mental retardation ; mRNA ; nuclear envelope ; palate ; protein ; RNA ; splicing ; translation

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.



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