U2AF1 Gene (Protein Coding)

U2 Small Nuclear RNA Auxiliary Factor 1

GC21M043092
GIFtS:
42
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 l... See more...

Aliases for U2AF1 Gene

Aliases for U2AF1 Gene

  • U2 Small Nuclear RNA Auxiliary Factor 1 2 3 4 5
  • U2(RNU2) Small Nuclear RNA Auxiliary Factor Binding Protein 2 3
  • U2 SnRNP Auxiliary Factor Small Subunit 3 4
  • Splicing Factor U2AF 35 KDa Subunit 3 4
  • U2AFBP 3 4
  • U2AF35 3 4
  • U2 Small Nuclear Ribonucleoprotein Auxillary Factor, 35-KD Subunit 3
  • U2(RNU2) Small Nuclear RNA Auxiliary Factor 1 2
  • U2 Small Nuclear RNA Auxillary Factor 1 3
  • Splicing Factor U2AF 35kDa Subunit 3
  • U2 Auxiliary Factor 35 KDa Subunit 4
  • RNU2AF1 3
  • FP793 3
  • RN 3

External Ids for U2AF1 Gene

Previous HGNC Symbols for U2AF1 Gene

  • U2AFBP

Previous GeneCards Identifiers for U2AF1 Gene

  • GC21M041060
  • GC21M043407
  • GC21M043386
  • GC21M044513
  • GC21M029931

Summaries for U2AF1 Gene

Entrez Gene Summary for U2AF1 Gene

  • 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]

CIViC Summary for U2AF1 Gene

  • 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.

GeneCards Summary for U2AF1 Gene

U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) is a Protein Coding gene. Diseases associated with U2AF1 include Myelodysplastic Syndrome and Bone Marrow Cancer. Among its related pathways are Gene Expression 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.

UniProtKB/Swiss-Prot Summary for U2AF1 Gene

  • Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron.

Gene Wiki entry for U2AF1 Gene

Additional gene information for U2AF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for U2AF1 Gene

Genomics for U2AF1 Gene

GeneHancer (GH) Regulatory Elements for U2AF1 Gene

Promoters and enhancers for U2AF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around U2AF1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for U2AF1

Top Transcription factor binding sites by QIAGEN in the U2AF1 gene promoter:
  • AREB6
  • ATF
  • Cdc5
  • HSF2
  • LyF-1
  • Msx-1
  • SRF
  • SRF (504 AA)

Genomic Locations for U2AF1 Gene

Genomic Locations for U2AF1 Gene
chr21:43,092,956-43,107,587
(GRCh38/hg38)
Size:
14,632 bases
Orientation:
Minus strand
chr21:44,513,066-44,527,697
(GRCh37/hg19)
Size:
14,632 bases
Orientation:
Minus strand

Genomic View for U2AF1 Gene

Genes around U2AF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
U2AF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for U2AF1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for U2AF1 Gene

Proteins for U2AF1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for U2AF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01081-U2AF1_HUMAN
    Recommended name:
    Splicing factor U2AF 35 kDa subunit
    Protein Accession:
    Q01081
    Secondary Accessions:
    • Q701P4
    • Q71RF1

    Protein attributes for U2AF1 Gene

    Size:
    240 amino acids
    Molecular mass:
    27872 Da
    Quaternary structure:
    • Interacts (via RS domain) with PHF5A (via N-terminus) (By similarity). Identified in the spliceosome C complex. Heterodimer with U2AF2. Interacts with ZRANB2.
    Miscellaneous:
    • [Isoform 2]: Interacts with U2AF2 and stimulates U2AF splicing activity in vitro. Less efficient than isoform 1.
    • [Isoform 3]: Produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Three dimensional structures from OCA and Proteopedia for U2AF1 Gene

    Alternative splice isoforms for U2AF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for U2AF1 Gene

Protein Expression for U2AF1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for U2AF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for U2AF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for U2AF1 Gene

Domains & Families for U2AF1 Gene

Gene Families for U2AF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for U2AF1 Gene

Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
  • Zn-finger, C-x8-C-x5-C-x3-H type
  • U2 auxiliary factor small subunit signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for U2AF1 Gene

GenScript: Design optimal peptide antigens:
  • U2 small nuclear RNA auxillary factor 1 isoform a (B5BU08_HUMAN)
  • U2 small nuclear RNA auxiliary factor 1 (Q7Z780_HUMAN)
  • U2 snRNP auxiliary factor small subunit (U2AF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01081

UniProtKB/Swiss-Prot:

U2AF1_HUMAN :
  • The C-terminal SR-rich domain is required for interactions with SR proteins and the splicing regulators TRA and TRA2, and the N-terminal domain is required for formation of the U2AF1/U2AF2 heterodimer.
  • Belongs to the splicing factor SR family.
Domain:
  • The C-terminal SR-rich domain is required for interactions with SR proteins and the splicing regulators TRA and TRA2, and the N-terminal domain is required for formation of the U2AF1/U2AF2 heterodimer.
Family:
  • Belongs to the splicing factor SR family.
genes like me logo Genes that share domains with U2AF1: view

Function for U2AF1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for U2AF1 Gene

UniProtKB/Swiss-Prot Function:
Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron.
GENATLAS Biochemistry:
U2 (RNU2) small nuclear RNA auxiliary factor,small subunit,1,35kDa

Phenotypes From GWAS Catalog for U2AF1 Gene

Gene Ontology (GO) - Molecular Function for U2AF1 Gene

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 --
genes like me logo Genes that share ontologies with U2AF1: view
genes like me logo Genes that share phenotypes with U2AF1: view

Animal Model Products

CRISPR Products

miRNA for U2AF1 Gene

miRTarBase miRNAs that target U2AF1

Clone Products

  • Addgene plasmids for U2AF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for U2AF1 Gene

Localization for U2AF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for U2AF1 Gene

Nucleus. Nucleus speckle.

Subcellular locations from

COMPARTMENTS