Ribosomes are the organelles that catalyze protein synthesis. Ribosomes consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. FCF1 is a 198 amino acid protein involved in pre-rRNA processing and 40S ribosomal subunit assembly. The gene encoding FCF1 maps to human chromosome 14, which contains about 700 genes and makes up about 3.5% of human cellular DNA. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease. The SERPINA1 gene is located on chromosome 14 and when defective leads to the genetic disorder α1-antitrypsin deficiency. Notably, the immunoglobulin heavy chain locus is found on chromosome 14 and has been identified as a fusion with the chromosome 19 encoded protein BCL3 in the (14;19) translocations found in a variety of B cell malignancies.
Function:
Essential protein involved in pre-rRNA processing and 40S ribosomal subunit assembly.
Subcellular Location:
Nucleus > nucleolus.
Similarity:
Belongs to the UTP23/FCF1 family. FCF1 subfamily.
Contains 1 PINc domain.
SWISS:
Q9Y324
Gene ID:
51077
Database links:
Entrez Gene: 51077 Human
Entrez Gene: 100507758 Human
SwissProt: Q9Y324 Human
Unigene: 579828 Human
Unigene: 711584 Human
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