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This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
U2AF1 is one of several spliceosome complex genes frequently mutated in a variety of hematologic malignancies, particularly de novo myelodysplastic syndromes (MDS), as well as solid tumors such as lung and pancreatic cancers. Two hotspot mutations (S34 and Q157) occur within the two zinc-finger domains of the U2AF1 protein. These mutations have been associated with altered splicing patterns in vitro and in vivo. U2AF1 mutations in MDS have been associated with an increased risk of transformation to secondary acute myeloid leukemia, however, the impact of these mutations on overall survival has been an area of debate.
U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) is a Protein Coding gene. Diseases associated with U2AF1 include Myelodysplastic Syndrome and Myeloid Leukemia. Among its related pathways are Cleavage of Growing Transcript in the Termination Region and Transport of Mature Transcript to Cytoplasm. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is U2AF1L5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0005515 | protein binding | IPI | 11551507 |
GO:0030628 | pre-mRNA 3'-splice site binding | IBA | 21873635 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005681 | spliceosomal complex | IDA | 9731529 |
GO:0015030 | Cajal body | TAS | 1388271 |
GO:0016607 | nuclear speck | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | mRNA Splicing - Major Pathway |
.79
|
.47
.41
|
2 | Cleavage of Growing Transcript in the Termination Region | ||
3 | Transport of Mature Transcript to Cytoplasm | ||
4 | Translational Control | ||
5 | Shigellosis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000398 | mRNA splicing, via spliceosome | TAS | -- |
GO:0006397 | mRNA processing | TAS | 1388271 |
GO:0006405 | RNA export from nucleus | TAS | -- |
GO:0006406 | mRNA export from nucleus | TAS | -- |
GO:0008380 | RNA splicing | TAS | 1388271 |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||
SP6: | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Mouse (Mus musculus) |
Mammalia | U2af1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | U2AF1 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | U2AF1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | U2AF1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | U2AF1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | U2AF1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | U2AF1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | U2AF1 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | u2af1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | U2af38 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | Y116A8C.35 32 |
|
|
|
uaf-2 31 |
|
OneToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | U2AF35B 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os05g0564200 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9845 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4410 30 |
|
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs371246226 | Likely Pathogenic: Acute myeloid leukemia. Likely Pathogenic: Acute myeloid leukemia; Myelodysplastic syndrome. Myelodysplastic syndrome (MDS) [MIM:614286] | 43,094,667(-) | T/CT/Gp.Gln157Arg | MISSENSE_VARIANT | |
rs371769427 | Likely Pathogenic: Acute myeloid leukemia; Pancreatic adenocarcinoma; Transitional cell carcinoma of the bladder; Lung adenocarcinoma; Myelodysplastic syndrome; Squamous cell carcinoma of the head and neck; Uterine cervical neoplasms; Malignant neoplasm of body of uterus; Uterine Carcinosarcoma. Likely Pathogenic: Acute myeloid leukemia; Pancreatic adenocarcinoma; Transitional cell carcinoma of the bladder; Lung adenocarcinoma; Myelodysplastic syndrome; Squamous cell carcinoma of the head and neck; Uterine cervical neoplasms; Malignant neoplasm of body of uterus; Uterine Carcinosarcoma. Myelodysplastic syndrome (MDS) [MIM:614286]. Myelodysplastic syndrome (MDS) [MIM:614286] | 43,104,346(-) | G/AG/Tp.Ser34Phep.Ser34Tyr | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2666871 | CNV | deletion | 23128226 |
nsv1067412 | CNV | gain | 25217958 |
nsv459279 | CNV | loss | 19166990 |
nsv510800 | CNV | deletion | 20534489 |
nsv587663 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myelodysplastic syndrome |
|
|
myeloid leukemia |
|
|
bone marrow cancer |
|
|
chronic myelomonocytic leukemia |
|
|
blood coagulation disease |
|
|