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Genetics Home Reference: your guide to understanding genetic conditions
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NOP10

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

What is the official name of the NOP10 gene?

The official name of this gene is “NOP10 ribonucleoprotein.”

NOP10 is the gene's official symbol. The NOP10 gene is also known by other names, listed below.

What is the normal function of the NOP10 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/55505):

This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA2 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nop10p. [provided by RefSeq, Jul 2008]

From UniProt (http://www.uniprot.org/uniprot/Q9NPE3):

Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ("psi") residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.

How are changes in the NOP10 gene related to health conditions?

Genetics Home Reference provides information about dyskeratosis congenita, which is associated with changes in the NOP10 gene.
UniProt (http://www.uniprot.org/uniprot/Q9NPE3) provides the following information about the NOP10 gene's known or predicted involvement in human disease.

Dyskeratosis congenita, autosomal recessive, 1 (DKCB1): A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/55505) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the NOP10 gene.
  • Dyskeratosis congenita autosomal recessive 1
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the NOP10 gene and its association with health conditions.
OMIM
Number
Title

Where is the NOP10 gene located?

Cytogenetic Location: 15q14-q15

Molecular Location on chromosome 15: base pairs 34,341,715 to 34,343,160

The NOP10 gene is located on the long (q) arm of chromosome 15 between positions 14 and 15.

The NOP10 gene is located on the long (q) arm of chromosome 15 between positions 14 and 15.

More precisely, the NOP10 gene is located from base pair 34,341,715 to base pair 34,343,160 on chromosome 15.

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 NOP10?

You and your healthcare professional may find the following resources about NOP10 helpful.

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

What other names do people use for the NOP10 gene or gene products?

  • DKCB1
  • NOLA3
  • NOP10P

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 NOP10?

anemia ; aplastic anemia ; autosomal ; autosomal recessive ; bone marrow ; depleted ; fibrosis ; gene ; leukoplakia ; localize ; nucleus ; osteoporosis ; platelets ; protein ; pulmonary ; recessive ; reticulated ; RNA ; telomere

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.

 
Published: March 23, 2015