U2 small nuclear RNA auxiliary factor 1

Splicing factor U2AF 35 kDa subunit is a protein that in humans is encoded by the U2AF1 gene.^[3][4][5]

U2AF1
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 1JMT
Identifiers
Aliases	U2AF1, FP793, RN, RNU2AF35, U2AFBP, U2 small nuclear RNA auxiliary factor 1
External IDs	OMIM: 191317; HomoloGene: 134334; GeneCards: U2AF1; OMA:U2AF1 - orthologs
Gene location (Human) Chr. Chromosome 21 (human)[1] Band 21q22.3 Start 43,092,956 bp[1] End 43,107,570 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in anterior pituitary left uterine tube bone marrow olfactory zone of nasal mucosa mucosa of transverse colon appendix stromal cell of endometrium right lung monocyte granulocyte n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding protein binding nucleic acid binding pre-mRNA 3'-splice site binding RNA binding RS domain binding Cellular component Cajal body nuclear speck catalytic step 2 spliceosome U2AF complex nucleoplasm spliceosomal complex nucleus Biological process termination of RNA polymerase II transcription positive regulation of protein targeting to mitochondrion mRNA processing mRNA export from nucleus regulation of autophagy of mitochondrion RNA splicing mRNA 3'-end processing RNA export from nucleus mRNA splicing, via spliceosome Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7307 n/a Ensembl ENSG00000160201 n/a UniProt Q01081 P0DN76 n/a RefSeq (mRNA) NM_001025203 NM_001025204 NM_006758 n/a RefSeq (protein) NP_001307575 NP_001307577 NP_001307579 NP_001307580 NP_001020374 NP_001020375 NP_006749 NP_001020374 NP_001020375 NP_006749 n/a Location (UCSC) Chr 21: 43.09 – 43.11 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Function

This gene belongs to the splicing factor SR family of genes ^{[citation needed]}. U2AF1 is a subunit of the U2 Auxiliary Factor complex alongside a larger subunit, U2AF2. 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.^[6] Alternatively spliced transcript variants encoding different isoforms have been identified ^{[citation needed]}. 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.^[7] In lung cancers, these mutations affect alternative splicing of several transcripts, including oncogenic ROS1 fusions.^[8] U2af1 conditional deletion in mouse hematopoietic system leads to early lethality suggesting its important for hematopoietic stem cell maintenance and function {https://doi.org/10.1038/s41375-020-01116-x }.

Interactions

U2 small nuclear RNA auxiliary factor 1 has been shown to interact with:

• ASF/SF2,^[9][10]
• NXF1,^[11]
• RP9,^[12]
• SMNDC1,^[13]
• U2AF2,^[14][15] and
• ZRANB2.^[16]