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1: U2AF1 U2 small nuclear RNA auxiliary factor 1 [ Homo sapiens ]

GeneID: 7307 updated 3-Dec-2009

[Top][Help]Summary

Official Symbol
U2AF1provided by HGNC
Official Full Name
U2 small nuclear RNA auxiliary factor 1provided by HGNC
Primary Source
HGNC:12453
See related
Ensembl:ENSG00000160201; HPRD:01871; MIM:191317
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RN; FP793; U2AF35; U2AFBP; RNU2AF1; DKFZp313J1712; U2AF1
Summary
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]

[Top][Help]Genomic regions, transcripts, and products

(minus strand) Go to reference sequence detailsTry our new Sequence Viewer


[Top][Help]Genomic context

chromosome: 21; Location: 21q22.3See U2AF1 in MapViewer

[Top][Help]Bibliography

Related Articles in PubMed

GeneRIFs: Gene References Into Function What's a GeneRIF?

PubMed 1. SF1 and U2AF form extraspliceosomal complexes before and after taking part in the assembly of catalytic spliceosomes.
PubMed 2. U2AF35 and hPrp3 interactions with SPF30 can occur simultaneously, thereby potentially linking 3' splice site recognition with tri-small nuclear ribonucleoprotein addition
PubMed 3. Binding assays revealed that IpaH9.8 has a specific affinity to U2AF(35), a mammalian splicing factor, which interferes with U2AF(35)-dependent splicing as assayed for IgM pre-mRNA
PubMed 4. A misspliced form of the cholecystokinin-B/gastrin receptor in pancreatic carcinoma: role of reduced sellular U2AF35 and a suboptimal 3'-splicing site leading to retention of the fourth intron.
PubMed 5. U2AF1 gene expression may provide a mechanism by which the relative cellular concentration and availability of U2AF(35) protein isoforms are modulated, thus contributing to the finely tuned control of splicing events in different tissues.
PubMed 6. Taken together our results demonstrate that U2AF35a is essential for HeLa cell division and suggest a novel role for both U2AF35 protein isoforms as regulators of alternative splicing of a specific subset of genes.
PubMed 7. Results describe the roles of the two subunits of U2AF, U2AF65 and 35, in the selection between alternative 3' splice sites associated with polypyrimidine tracts of different strengths.
PubMed 8. U2AF35 RRM is unstructured in solution but its tertiary structure is induced upon binding to U2AF65.
PubMed 9. identified and spatially localized sites of direct interaction between U2AF35 and U2AF65 in vivo in live cell nuclei.
PubMed 10. DEK enforces 3' splice site discrimination by U2AF; DEK phosphorylated at serines 19 and 32 associates with U2AF35, facilitates the U2AF35-AG interaction and prevents binding of U2AF65 to pyrimidine tracts not followed by AG
PubMed 11. U2AF35 appears to be completely dispensable for splicing in nuclear extracts prepared from adenovirus late-infected cells
Submit: New GeneRIF Correction

[Top][Help]Interactions

Description ..........
  Product Interactant Other Gene Complex Source Pubs          
 
  NP_006749.1   AAD42222.1   EPB41      HPRD    PubMed
 
  NP_006749.1   NP_006353.2   NXF1      HPRD    PubMed
 
  NP_006749.1   NP_006793.1   SF3A3      HPRD    PubMed
SAP155 interacts with U2AF35.
  NP_006749.1   NP_036565.2   SF3B1      BIND    PubMed
 
  NP_006749.1   Splicing factor, arginine/serine rich 1   SFRS1      HPRD    PubMed
 
  NP_006749.1   SFRS2   SFRS2      HPRD    PubMed
 
  NP_006749.1   NP_003128.3   SRPK1      HPRD    PubMed
 
  NP_006749.1   NP_009210.1   U2AF2      HPRD    PubMed
hU2AF(65) and hU2AF(35) interact to form the U2AF splice factor heterodimer.
  NP_006749.1   NP_009210.1   U2AF2      BIND    PubMed
 
  NP_006749.1   NP_976225.1   ZRANB2      HPRD    PubMed
 
  NP_006749.1   NP_005080.1   ZRSR2      HPRD    PubMed
 
  NP_006749.1   Protein 4.1E        HPRD    PubMed
 
  NP_006749.1   ZNF265        HPRD    PubMed
Reconstituted Complex; Two-hybrid
  BioGRID:113157   BioGRID:115745   NXF1      BioGRID    PubMed
Affinity Capture-MS
  BioGRID:113157   BioGRID:117873   RNU11      BioGRID    PubMed
Affinity Capture-MS
  BioGRID:113157   BioGRID:117872   RNU12-2P      BioGRID    PubMed
Affinity Capture-Western; Reconstituted Complex; Two-hybrid
  BioGRID:113157   BioGRID:112027   RP9      BioGRID    PubMed
Affinity Capture-MS
  BioGRID:113157   BioGRID:113826   SF3A2      BioGRID    PubMed
Reconstituted Complex; Two-hybrid
  BioGRID:113157   BioGRID:112324   SFRS1      BioGRID    PubMed
Two-hybrid
  BioGRID:113157   BioGRID:112325   SFRS2      BioGRID    PubMed
Two-hybrid
  BioGRID:113157   BioGRID:249003   Safb      BioGRID    PubMed
Affinity Capture-Western; Reconstituted Complex; Two-hybrid
  BioGRID:113157   BioGRID:116466   U2AF2      BioGRID    PubMed
Affinity Capture-Western; Two-hybrid
  BioGRID:113157   BioGRID:114802   ZRANB2      BioGRID    PubMed

[Top][Help]General gene information

Markers

STS-W74700(e-PCR)
Links: UniSTS:48228
STS-M96982(e-PCR)
Links: UniSTS:74382
RH80644(e-PCR)
Links: UniSTS:92322
D11S3537(e-PCR)
Links: UniSTS:152776

Related pseudogene(s)

1 foundReview record(s) in Gene

Homology

Homologs of the U2AF1 gene The U2AF1 gene is conserved in chimpanzee, dog, cow, mouse, zebrafish, fruit fly, mosquito, C.elegans, S.pombe, M.grisea, N.crassa, A.thaliana, rice, and P.falciparum.

Pathways

Reactome Event:Gene Expression
REACT_71
Reactome Event:Influenza Infection
REACT_6167
Reactome Event:Transcription
REACT_1788

[Top][Help]General protein information

Preferred Names
U2 small nuclear RNA auxillary factor 1
Names
U2 small nuclear RNA auxillary factor 1
splicing factor U2AF 35kDa subunit
U2 snRNP auxiliary factor small subunit
U2(RNU2) small nuclear RNA auxiliary factor 1
U2(RNU2) small nuclear RNA auxiliary factor binding protein
U2 small nuclear ribonucleoprotein auxillary factor, 35-KD subunit

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

mRNA and Protein(s)

  1. NM_001025203.1 → NP_001020374.1  U2 small nuclear RNA auxillary factor 1 isoform b

    Description
    Transcript Variant: This variant (b) lacks an in-frame segment of the coding region, compared to variant c. The resulting isoform (b) has a longer N-terminus when compared to isoform c.
    Source sequence(s)
    AF370386,AJ627978,CB110007
    Consensus CDS
    CCDS33574.1
    UniProtKB/TrEMBL
    Q701P4
    UniProtKB/TrEMBL
    Q71RF1
    Related Ensembl
    ENSP00000369629, ENST00000380276
    Conserved Domains (2) summary
    cl02586
    Location:100 – 143
    Blast Score: 137
    RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA...
    cl11592
    Location:13 – 39
    Blast Score: 84
    zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)

  2. NM_001025204.1 → NP_001020375.1  U2 small nuclear RNA auxillary factor 1 isoform c

    Description
    Transcript Variant: This variant (c) represents the longest transcript, but encodes the shortest isoform (c).
    Source sequence(s)
    AF370386,AJ627978,BC005915,CB110007
    Consensus CDS
    CCDS42948.1
    UniProtKB/TrEMBL
    Q701P4
    UniProtKB/TrEMBL
    Q71RF1
    UniProtKB/TrEMBL
    Q7Z780
    Related Ensembl
    ENSP00000381205, ENSP00000395033, ENST00000398137, ENST00000457176
    Conserved Domains (2) summary
    cl02586
    Location:27 – 70
    Blast Score: 133
    RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA...
    cl11592
    Location:76 – 100
    Blast Score: 82
    zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)

  3. NM_006758.2 → NP_006749.1  U2 small nuclear RNA auxillary factor 1 isoform a

    Description
    Transcript Variant: This variant (a) lacks an in-frame segment of the coding region, compared to variant c. The resulting isoform (a) has a longer N-terminus when compared to isoform c.
    Source sequence(s)
    AF370386,AJ627978,BC005915,CB110007
    Consensus CDS
    CCDS13694.1
    UniProtKB/Swiss-Prot
    Q01081
    UniProtKB/TrEMBL
    Q701P4
    UniProtKB/TrEMBL
    Q71RF1
    UniProtKB/TrEMBL
    Q7Z780
    Related Ensembl
    ENSP00000291552, ENST00000291552
    Conserved Domains (2) summary
    cl02586
    Location:100 – 143
    Blast Score: 137
    RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA...
    cl11592
    Location:13 – 39
    Blast Score: 85
    zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)

RefSeqs of Annotated Genomes: Build 37.1

The following sections contain reference sequences that belong to a specific genome build. Explain

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

  1. NC_000021.8

    Range
    44513065..44527687, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NT_011515.12 

    Range
    1507506..1522128, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

  1. AC_000064.1

    Range
    29665728..29680350, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_927384.1 

    Range
    29150851..29165473, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

  1. AC_000153.1

    Range
    29931179..29945801
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_001838715.2 

    Range
    107087..121709
    Download
    GenBank FASTA Sequence Viewer (Graphics)

[Top][Help]Related Sequences

  Nucleotide   Protein
  genomic   AL832781.1   None
  genomic   AP001631.1  (53099..67721)   None
  genomic   AP001748.1   BAA95534.1
  genomic   AP002085.1   None
  genomic   CH471079.2   EAX09501.1
       EAX09502.1
       EAX09503.1
       EAX09504.1
       EAX09505.1
       EAX09506.1
  mRNA   AB451244.1   BAG70058.1
  mRNA   AF370386.1   AAQ15222.1
  mRNA   AJ627978.1   CAF29556.1
  mRNA   AK022152.1   None
  mRNA   AK023589.1   None
  mRNA   AK094435.1   None
  mRNA   AK098266.1   None
  mRNA   AK307560.1   None
  mRNA   AL832665.1   CAH10401.1
  mRNA   BC001177.1   AAH01177.1
  mRNA   BC001923.1   AAH01923.1
  mRNA   BC005915.1   AAH05915.1
  mRNA   BC013786.1   None
  mRNA   BC032521.2   None
  mRNA   CB110007.1   None
  mRNA   CR606196.1   None
  mRNA   M96982.1   AAA36619.1
Protein Accession   Links
Q01081.3   GenPept   UniProtKB/Swiss-Prot:Q01081
Q69YM7   GenPept   UniProtKB/TrEMBL:Q69YM7
Q701P4   GenPept   UniProtKB/TrEMBL:Q701P4
Q71RF1   GenPept   UniProtKB/TrEMBL:Q71RF1
Q7Z780   GenPept   UniProtKB/TrEMBL:Q7Z780

[Top][Help]Additional Links