RPS14

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What is the official name of the RPS14 gene?

The official name of this gene is “ribosomal protein S14.”

RPS14 is the gene's official symbol. The RPS14 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the RPS14 gene?

The RPS14 gene provides instructions for making one of approximately 80 different ribosomal proteins, which are components of cellular structures called ribosomes. Ribosomes process the cell's genetic instructions to create proteins.

Each ribosome is made up of two parts (subunits) called the large and small subunits. The protein produced from the RPS14 gene is among those found in the small subunit.

The specific functions of the RPS14 protein and the other ribosomal proteins within these subunits are unclear. Some ribosomal proteins are involved in the assembly or stability of ribosomes. Others help carry out the ribosome's main function of building new proteins. Studies suggest that some ribosomal proteins may have other functions, such as participating in chemical signaling pathways within the cell, regulating cell division, and controlling the self-destruction of cells (apoptosis).

Does the RPS14 gene share characteristics with other genes?

The RPS14 gene belongs to a family of genes called RPS (S ribosomal proteins).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the RPS14 gene related to health conditions?

5q minus syndrome - associated with the RPS14 gene: The RPS14 gene is involved in a condition called 5q minus (5q-) syndrome. This condition is a type of bone marrow disorder called myelodysplastic syndrome (MDS), in which immature blood cells fail to develop normally. Individuals with 5q- syndrome often have a shortage of red blood cells (anemia) and abnormalities in blood cells called megakaryocytes, which produce platelets, the cells involved in blood clotting. Affected individuals also have an increased risk of developing a fast-growing blood cancer known as acute myeloid leukemia (AML).
5q- syndrome is caused by deletion of a region of DNA from the long (q) arm of chromosome 5. This deletion occurs in immature blood cells during a person's lifetime and affects one copy of chromosome 5 in each cell. Most people with 5q- syndrome are missing a sequence of about 1.5 million DNA building blocks (base pairs), also written as 1.5 megabases (Mb). This region of DNA contains 40 genes, including RPS14. Loss of one copy of the RPS14 gene reduces the amount of RPS14 protein that is made. Studies indicate that a shortage of functioning ribosomal proteins increases the self-destruction of blood-forming cells in the bone marrow, resulting in anemia. Research suggests that the other features of the condition are associated with other genes in the deleted segment of DNA.

Where is the RPS14 gene located?

Cytogenetic Location: 5q31-q33

Molecular Location on chromosome 5: base pairs 150,444,229 to 150,449,756

The RPS14 gene is located on the long (q) arm of chromosome 5 between positions 31 and 33.

More precisely, the RPS14 gene is located from base pair 150,444,229 to base pair 150,449,756 on chromosome 5.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about RPS14?

You and your healthcare professional may find the following resources about RPS14 helpful.

Educational resources - Information pages
Molecular Biology of the Cell (fourth edition, 2002): The RNA message is decoded onribosomes
Genetic Testing Registry - Repository of genetic test information (1 link)

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

PubMed - Recent literature
OMIM - Genetic disorder catalog
Research Resources - Tools for researchers (4 links)

What other names do people use for the RPS14 gene or gene products?

40S ribosomal protein S14
emetine resistance
EMTB
S14

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding RPS14?

acute ; acute myeloid leukemia ; AML ; anemia ; apoptosis ; blood clotting ; bone marrow ; cancer ;cell ; cell division ; chromosome ; clotting ; deletion ; DNA ; gene ; leukemia ; Mb ;myelodysplastic syndrome ; myeloid ; pharmacogenomics ; platelets ; protein ; ribosomes ; subunit ;syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (9 links)

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? in the Handbook