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 residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''U2AF1''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
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 spliceo ...
. U2AF1 is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA 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 assembly.
Alternatively spliced
Alternative splicing, or alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single gene to code for multiple proteins. In this process, particular exons of a gene may be in ...
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 or gene family and are the result of genetic differences. While many perform the same or similar biological roles, some isof ...
have been identified . Somatic mutations in ''U2AF1'' have been found in a range of human cancers, with a distinctive pattern of these mutations at the zinc fingers implicating a functional role under selection. In lung cancers, these mutations affect alternative splicing of several transcripts, including oncogenic ROS1 fusions.
U2af1 conditional deletion in mouse hematopoietic system leads to early lethality suggesting its important for hematopoietic stem cell 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 using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with:
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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 ...
,
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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 no ...
,
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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 ...
,
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SMNDC1
Survival of motor neuron-related-splicing factor 30 is a protein that in humans is encoded by the ''SMNDC1'' gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity.. ...
,
*
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 spliceo ...
,
and
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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 subun ...
.
References
Further reading
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External links
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{{PDB Gallery, geneid=7307