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 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.
    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

Post-translational modifications for U2AF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for U2AF1 gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for U2AF1 Gene

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

Pathways & Interactions for U2AF1 Gene

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

Pathways by source for U2AF1 Gene

2 KEGG pathways for U2AF1 Gene
1 Cell Signaling Technology pathway for U2AF1 Gene

Gene Ontology (GO) - Biological Process for U2AF1 Gene

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

No data available for SIGNOR curated interactions for U2AF1 Gene

Drugs & Compounds for U2AF1 Gene

No Compound Related Data Available

Transcripts for U2AF1 Gene

mRNA/cDNA for U2AF1 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for U2AF1

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

Expression for U2AF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for U2AF1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for U2AF1 Gene



Protein tissue co-expression partners for U2AF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for U2AF1

SOURCE GeneReport for Unigene cluster for U2AF1 Gene:

Hs.365116

Evidence on tissue expression from TISSUES for U2AF1 Gene

  • Lung(4.4)
  • Spleen(4.4)
  • Nervous system(4.4)
  • Bone marrow(2.9)
  • Blood(2.4)
  • Heart(2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with U2AF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
mouse
(Mus musculus)
Mammalia U2af1 31
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia U2AF1 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia U2AF1 31
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia U2AF1 31
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia U2AF1 31
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia U2AF1 31
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves U2AF1 31
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia U2AF1 31
  • 99 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii u2af1 31 30 30
  • 79.28 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta U2af38 31 32
  • 70 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y116A8C.35 32
  • 67 (a)
uaf-2 31
  • 51 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons U2AF35B 30
  • 58.38 (n)
rice
(Oryza sativa)
Liliopsida Os05g0564200 30
  • 60.54 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9845 31
  • 80 (a)
OneToMany
Cin.4410 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4410 30
Species where no ortholog for U2AF1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for U2AF1: view image

Paralogs for U2AF1 Gene

Paralogs for U2AF1 Gene

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

  • U2AF1_HUMAN
  • B5BU08_HUMAN
  • Q7Z780_HUMAN
genes like me logo Genes that share paralogs with U2AF1: view

Variants for U2AF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for U2AF1 Gene

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; Squamous cell carcinoma of the head and neck; Uterine cervical neoplasms; Myelodysplastic syndrome; Malignant neoplasm of body of uterus; Uterine Carcinosarcoma. Likely Pathogenic: Acute myeloid leukemia; Pancreatic adenocarcinoma; Transitional cell carcinoma of the bladder; Lung adenocarcinoma; Squamous cell carcinoma of the head and neck; Uterine cervical neoplasms; Myelodysplastic syndrome; 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

Additional dbSNP identifiers (rs#s) for U2AF1 Gene

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

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

Variation tolerance for U2AF1 Gene

Residual Variation Intolerance Score: 40.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.18; 4.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for U2AF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
U2AF1

SNP Genotyping and Copy Number Assay Products

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

Disorders for U2AF1 Gene

MalaCards: The human disease database

(153) MalaCards diseases for U2AF1 Gene - From: UniProtKB/Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myelodysplastic syndrome
  • mds
bone marrow cancer
  • bone marrow neoplasm
myeloid leukemia
  • leukemia myelogenous
chronic myelomonocytic leukemia
  • leukemia, myelomonocytic, chronic
blood coagulation disease
  • postpartum coagulation defect
- elite association - COSMIC cancer census association via MalaCards
Search U2AF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

U2AF1_HUMAN
  • Myelodysplastic syndrome (MDS) [MIM:614286]: A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML). {ECO:0000269 PubMed:22158538, ECO:0000269 PubMed:25311244}. Note=The gene represented in this entry may be involved in disease pathogenesis. Mutation altering U2AF1 function in the context of specific RNA sequences can lead to aberrant alternative splicing of target genes, some of which may be relevant for MDS pathogenesis. {ECO:0000269 PubMed:25311244}.

Additional Disease Information for U2AF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with U2AF1: view

No data available for Genatlas for U2AF1 Gene

Publications for U2AF1 Gene

  1. Diversity of vertebrate splicing factor U2AF35: identification of alternatively spliced U2AF1 mRNAS. (PMID: 15096518) Pacheco TR … Carmo-Fonseca M (The Journal of biological chemistry 2004) 3 4 23 54
  2. A novel peptide recognition mode revealed by the X-ray structure of a core U2AF35/U2AF65 heterodimer. (PMID: 11551507) Kielkopf CL … Burley SK (Cell 2001) 3 4 23 54
  3. 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 MD … Antonarakis SE (Genomics 1996) 2 3 23 54
  4. The splicing factor U2AF35 mediates critical protein-protein interactions in constitutive and enhancer-dependent splicing. (PMID: 8647433) Zuo P … Maniatis T (Genes & development 1996) 3 4 23 54
  5. Cloning and intracellular localization of the U2 small nuclear ribonucleoprotein auxiliary factor small subunit. (PMID: 1388271) Zhang M … Green MR (Proceedings of the National Academy of Sciences of the United States of America 1992) 3 4 23 54

Products for U2AF1 Gene