Splicing factor U2AF 35 kDa subunit is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...

that in humans is encoded by the ''U2AF1''

gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

Function

This gene belongs to the splicing factor SR family of genes . U2AF1 is a subunit of the U2 Auxiliary Factor complex alongside a larger subunit,

U2AF2 Splicing factor U2AF 65 kDa subunit is a protein that in humans is encoded by the ''U2AF2'' gene. Function In eukaryotes, the introns in the transcribed pre-mRNA first have to be removed by spliceosome in order to form a mature mRNA. A splic ...

. U2AF1 is a non-snRNP protein required for the binding of U2

snRNP snRNPs (pronounced "snurps"), or small nuclear ribonucleoproteins, are RNA-protein complexes that combine with unmodified pre-mRNA and various other proteins to form a spliceosome, a large RNA-protein molecular complex upon which splicing of pre- ...

to the

pre-mRNA A primary transcript is the single-stranded ribonucleic acid (RNA) product synthesized by Transcription (genetics), transcription of DNA, and processed to yield various mature RNA products such as mRNAs, tRNAs, and rRNAs. The primary transcript ...

branch site. This gene encodes a small (~35 kDa) subunit which plays a critical role in RNA splicing by recognizing and binding to AG nucleotides at the 3’ splice site to facilitate

spliceosome A spliceosome is a large ribonucleoprotein (RNP) complex found primarily within the nucleus of eukaryotic cells. The spliceosome is assembled from small nuclear RNAs ( snRNA) and numerous proteins. Small nuclear RNA (snRNA) molecules bind to sp ...

assembly.

Alternatively spliced Alternative splicing, alternative RNA splicing, or differential splicing, is an alternative RNA splicing, splicing process during gene expression that allows a single gene to produce different splice variants. For example, some exons of a gene ma ...

transcript variants encoding different

isoforms A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene and are the result of genetic differences. While many perform the same or similar biological roles, some isoforms have uniqu ...

have been identified .

Somatic mutation A somatic mutation is a change in the DNA sequence of a somatic cell of a multicellular organism with dedicated reproductive cells; that is, any mutation that occurs in a cell other than a gamete, germ cell, or gametocyte. Unlike germline muta ...

s in ''U2AF1'' have been found in a range of human cancers, with a distinctive pattern of these mutations at the

zinc finger A zinc finger is a small protein structural motif that is characterized by the coordination of one or more zinc ions (Zn2+) which stabilizes the fold. The term ''zinc finger'' was originally coined to describe the finger-like appearance of a ...

s implicating a functional role under selection. In lung cancers, these mutations affect alternative splicing of several transcripts, including oncogenic

ROS1 Proto-oncogene tyrosine-protein kinase ROS is an enzyme that in humans is encoded by the ''ROS1'' gene. Function This proto-oncogene, highly expressed in a variety of tumor cell lines, belongs to the sevenless subfamily of tyrosine kinase ins ...

fusions. U2af1 conditional deletion in mouse hematopoietic system leads to early lethality suggesting its important for

hematopoietic stem cell Hematopoietic stem cells (HSCs) are the stem cells that give rise to other blood cells. This process is called haematopoiesis. In vertebrates, the first definitive HSCs arise from the ventral endothelial wall of the embryonic aorta within the ...

maintenance and function .

Interactions

U2 small nuclear RNA auxiliary factor 1 has been shown to

interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization advocating for the legal and human rights of children with intersex traits. The organization was founded in 2006 and fo ...

with: *

ASF/SF2 Serine/arginine-rich splicing factor 1 (SRSF1) also known as alternative splicing factor 1 (ASF1), pre-mRNA-splicing factor SF2 (SF2) or ASF1/SF2 is a protein that in humans is encoded by the ''SRSF1'' gene. ASF/SF2 is an essential sequence specif ...

, *

NXF1 Nuclear RNA export factor 1, also known as NXF1 or TAP, is a protein which in humans is encoded by the ''NXF1'' gene. Function This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a n ...

, *

RP9 Retinitis pigmentosa 9 (autosomal dominant), also known as RP9 or PAP-1, is a protein which in humans is encoded by the ''RP9'' gene. Function The removal of introns from nuclear pre-mRNAs occurs on a complex called a spliceosome, which is mad ...

, * SMNDC1, *

, and *

ZRANB2 Zinc finger Ran-binding domain-containing protein 2 is a protein that in humans is encoded by the ''ZRANB2'' gene. Interactions ZRANB2 has been shown to interact with U2 small nuclear RNA auxiliary factor 1 Splicing factor U2AF 35 kDa subu ...

References

External links

* {{PDB Gallery, geneid=7307

Function

Interactions

References

Further reading

External links