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Aliases for U2AF1 Gene

Aliases for U2AF1 Gene

  • U2 Small Nuclear RNA Auxiliary Factor 1 2 3 4
  • U2(RNU2) Small Nuclear RNA Auxiliary Factor Binding Protein 2 3
  • U2 SnRNP Auxiliary Factor Small 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 35 KDa Subunit 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]

GeneCards Summary for U2AF1 Gene

U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) is a Protein Coding gene. Among its related pathways are Salmonella infection (KEGG) and Gene Expression. GO annotations related to this gene include RNA binding and RS domain binding. An important paralog of this gene is ZRSR1.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for U2AF1 Gene

Genomics for U2AF1 Gene

Regulatory Elements for U2AF1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for U2AF1 Gene

Start:
43,092,956 bp from pter
End:
43,107,587 bp from pter
Size:
14,632 bases
Orientation:
Minus strand

Genomic View for U2AF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for U2AF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for U2AF1 Gene

Proteins for U2AF1 Gene

  • 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.

    Three dimensional structures from OCA and Proteopedia for U2AF1 Gene

    Alternative splice isoforms for U2AF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for U2AF1 Gene

Proteomics data for U2AF1 Gene at MOPED

Post-translational modifications for U2AF1 Gene

  • Ubiquitination at Lys13 and Lys175
  • Modification sites at PhosphoSitePlus

Other Protein References for U2AF1 Gene

No data available for DME Specific Peptides for U2AF1 Gene

Domains for U2AF1 Gene

Gene Families for U2AF1 Gene

HGNC:
  • RBM :RNA binding motif (RRM) containing

Graphical View of Domain Structure for InterPro Entry

Q01081

UniProtKB/Swiss-Prot:

U2AF1_HUMAN :
  • Q01081
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
  • Contains 1 RRM (RNA recognition motif) domain.
Family:
  • Belongs to the splicing factor SR family.
Similarity:
  • Contains 2 C3H1-type zinc fingers.
genes like me logo Genes that share domains with U2AF1: view

Function for U2AF1 Gene

Molecular function for U2AF1 Gene

GENATLAS Biochemistry: U2 (RNU2) small nuclear RNA auxiliary factor,small subunit,1,35kDa
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.

Gene Ontology (GO) - Molecular Function for U2AF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding --
GO:0005515 protein binding IPI 11551507
GO:0044822 poly(A) RNA binding IDA 22658674
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 Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for U2AF1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for U2AF1 Gene COMPARTMENTS Subcellular localization image for U2AF1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for U2AF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IDA 9731529
GO:0015030 Cajal body TAS 1388271
GO:0016607 nuclear speck ISS --
genes like me logo Genes that share ontologies with U2AF1: view

Pathways for U2AF1 Gene

genes like me logo Genes that share pathways with U2AF1: view

Gene Ontology (GO) - Biological Process for U2AF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006366 transcription from RNA polymerase II promoter TAS --
GO:0006369 termination of RNA polymerase II transcription TAS --
GO:0006397 mRNA processing TAS 1388271
GO:0006406 mRNA export from nucleus TAS --
genes like me logo Genes that share ontologies with U2AF1: view

Transcripts for U2AF1 Gene

Unigene Clusters for U2AF1 Gene

U2 small nuclear RNA auxiliary factor 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for U2AF1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for U2AF1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9
SP1: - - -
SP2: -
SP3: - - -
SP4: - - - -
SP5:
SP6: - -

Relevant External Links for U2AF1 Gene

GeneLoc Exon Structure for
U2AF1
ECgene alternative splicing isoforms for
U2AF1

Expression for U2AF1 Gene

mRNA expression in normal human tissues for U2AF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for U2AF1 Gene

SOURCE GeneReport for Unigene cluster for U2AF1 Gene Hs.365116

genes like me logo Genes that share expressions with U2AF1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for U2AF1 Gene

Orthologs for U2AF1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for U2AF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia U2AF1 36
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia U2AF1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia U2AF1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia U2af1 16
U2af1 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia U2AF1 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia U2AF1 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves U2AF1 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia U2AF1 36
  • 99 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii u2af1 35
  • 79.28 (n)
  • 95.68 (a)
u2af1 36
  • 91 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta U2af38 36
  • 70 (a)
OneToMany
U2af38 37
  • 82 (a)
worm
(Caenorhabditis elegans)
Secernentea uaf-2 36
  • 51 (a)
OneToMany
Y116A8C.35 37
  • 67 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons U2AF35B 35
  • 58.38 (n)
  • 59.46 (a)
rice
(Oryza sativa)
Liliopsida Os05g0564200 35
  • 60.54 (n)
  • 60.54 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4410 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9845 36
  • 80 (a)
OneToMany
Species with no ortholog for U2AF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for U2AF1 Gene

ENSEMBL:
Gene Tree for U2AF1 (if available)
TreeFam:
Gene Tree for U2AF1 (if available)

Paralogs for U2AF1 Gene

Paralogs for U2AF1 Gene

Selected SIMAP similar genes for U2AF1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with U2AF1: view

Variants for U2AF1 Gene

Sequence variations from dbSNP and Humsavar for U2AF1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs234788 -- 43,095,663(+) AACAG(A/G)TCTAT intron-variant
rs1048460 -- 43,094,203(-) CGCGG(A/G)CATGA intron-variant
rs1048461 -- 43,094,158(-) CCCAG(A/G)TATTA intron-variant
rs1060111 -- 43,097,918(-) AATAA(C/T)TAAAA intron-variant
rs1060112 -- 43,097,804(-) CTCAC(A/G)CCTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for U2AF1 Gene

Variant ID Type Subtype PubMed ID
esv2666871 CNV Deletion 23128226
nsv913812 CNV Gain 21882294
nsv510800 CNV Loss 20534489
nsv913828 CNV Loss 21882294
nsv459279 CNV Loss 19166990

Relevant External Links for U2AF1 Gene

HapMap Linkage Disequilibrium report
U2AF1

PCR Panel Products

  • Site Specific Cancer Mutation PCR Panels

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for U2AF1 Gene

Disorders for U2AF1 Gene

Relevant External Links for U2AF1

Genetic Association Database (GAD)
U2AF1
Human Genome Epidemiology (HuGE) Navigator
U2AF1
genes like me logo Genes that share disorders with U2AF1: view

No data available for UniProtKB/Swiss-Prot for U2AF1 Gene

Publications for U2AF1 Gene

  1. The splicing factor U2AF35 mediates critical protein-protein interactions in constitutive and enhancer-dependent splicing. (PMID: 8647433) Zuo P. … Maniatis T. (Genes Dev. 1996) 3 4 23
  2. The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3. (PMID: 8660980) Lalioti M.D. … Antonarakis S.E. (Genomics 1996) 2 3 23
  3. Cloning and intracellular localization of the U2 small nuclear ribonucleoprotein auxiliary factor small subunit. (PMID: 1388271) Zhang M. … Green M.R. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 23
  4. A novel peptide recognition mode revealed by the X-ray structure of a core U2AF35/U2AF65 heterodimer. (PMID: 11551507) Kielkopf C.L. … Burley S.K. (Cell 2001) 3 4 23
  5. Diversity of vertebrate splicing factor U2AF35: identification of alternatively spliced U2AF1 mRNAs. (PMID: 15096518) Pacheco T.R.D. … Carmo-Fonseca M. (J. Biol. Chem. 2004) 3 4 23

Products for U2AF1 Gene

Sources for U2AF1 Gene

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