U2AF1 Gene
protein-coding GIFtS : 62
GC21M043386
U2 small nuclear RNA auxiliary factor 1 (Previous names: U2(RNU2) small nuclear RNA auxiliary factor binding protein, U2(RNU2) small nuclear RNA auxiliary factor 1 )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbol: U2AFBP )
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Aliases & Descriptions for U2AF1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase , and/or 9 Nature :405,311-319 and CroW21)About This Section
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Aliases DKFZp313J1712 2 FP793 2 RN 1 , 2 RNU2AF1 1 , 2 U2AF35 1 , 2 , 3 U2AFBP 2 , 3
Descriptions U2 auxiliary factor 35 kDa subunit 3 U2 small nuclear RNA auxiliary factor 1 2 U2 small nuclear RNA auxillary factor 1 2 U2 small nuclear ribonucleoprotein auxillary factor, 35-KD subunit 2 U2 snRNP auxiliary factor small subunit 2 , 3 U2(RNU2) small nuclear RNA auxiliary factor 1 1 , 2 U2(RNU2) small nuclear RNA auxiliary factor binding protein 1 , 2 human U2 snRNP auxiliary factor small subunit 9 splicing factor U2AF 35kDa subunit 2
Search outside databases for aliases for U2AF1 genePrevious GC identifers: GC21M041060 GC21M043407
Summaries for U2AF1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for U2AF1 : This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising alarge and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to thepre-mRNA branch site. This gene encodes the small subunit which plays a critical role in bothconstitutive and enhancer-dependent RNA splicing by directly mediating interactions between thelarge subunit and proteins bound to the enhancers. Alternatively spliced transcript variantsencoding different isoforms have been identified. [provided by RefSeq] UniProtKB/Swiss-Prot: U2AF1_HUMAN, Q01081 Function : Plays a critical role in both constitutive and enhancer-dependent splicing by mediatingprotein-protein interactions and protein-RNA interactions required for accurate 3'-splice siteselection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 andproteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancercomplex to recruit it to the adjacent intron
Gene Wiki entry for U2AF1 (U2_small_nuclear_RNA_auxiliary_factor_1)
Genomic Location for U2AF1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences , Whole Chromsome Sequence According to
Nature (Cited Here with Permission) :405,311-319 and CroW21)About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 21q22.3 Ensembl cytogenetic band: 21q22.3 HGNC cytogenetic band: 21q22.3 Nature(405: 311-319) cytogenetic band: 21q22.3 U2AF1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
GC21M043386:
GeneLoc
Nature :405,311-319
Start:
43,386,135 bp from pter
30,060,393 bp from centromere
End:
43,400,757 bp from pter
30,074,960 bp from centromere
Size:
14,623 bases
14,568 bases
Orientation:
minus strand
minus strand
RefSeq DNA sequence: NC_000021.7 NT_030188.4 Whole chromosome sequencing:
cDNA sequence:
M96982 genomic clones:
KB2007G4
Proteins for U2AF1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: U2AF1_HUMAN, Q01081 (See
protein sequence )Recommended Name: Splicing factor U2AF 35 kDa subunit Size : 240 amino acids; 27872 Da
Subunit : Identified in the spliceosome C complex, at least composed of AQR, ASCC3L1, C19orf29,CDC40, CDC5L, CRNKL1, DDX23, DDX41, DDX48, DDX5, DGCR14, DHX35, DHX38, DHX8, EFTUD2, FRG1, GPATC1,HNRPA1, HNRPA2B1, HNRPA3, HNRPC, HNRPF, HNRPH1, HNRPK, HNRPM, HNRPR, HNRPU, KIAA1160, KIAA1604,LSM2, LSM3, MAGOH, MORG1, PABPC1, PLRG1, PNN, PPIE, PPIL1, PPIL3, PPWD1, PRPF19, PRPF4B, PRPF6,PRPF8, RALY, RBM22, RBM8A, RBMX, SART1, SF3A1, SF3A2, SF3A3, SF3B1, SF3B2, SF3B3, SFRS1, SKIV2L2,SNRPA1, SNRPB, SNRPB2, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF, SNRPG, SNW1, SRRM1, SRRM2, SYF2,SYNCRIP, TFIP11, THOC4, U2AF1, WDR57, XAB2 and ZCCHC8. Heterodimer with U2AF2. Interacts withZRANB2
Subcellular location : Nucleus
PDB structures from and Proteopedia : 1JMT (3D)
 
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (3 alternative transcripts):
NP_001020374.1 NP_001020375.1 NP_006749.1 ENSEMBL proteins: ENSP00000381205 ENSP00000369629 ENSP00000291552 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: U2AF1 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for U2AF1: Assays for U2AF1:
Protein
Domains/ Families for U2AF1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q01081 ProtoNet protein and cluster: Q01081
3 Blocks protein families : IPB000504 RNA-binding region RNP-1 (RNA recognition motif) IPB000571 Zn-finger IPB009145 U2 auxiliary factor small subunit signature UniProtKB/Swiss-Prot: U2AF1_HUMAN, Q01081 Domain : The C-terminal SR-rich domain is required for interactions with SR proteins and thesplicing regulators TRA and TRA2, and the N-terminal domain is required for formation of theU2AF1/U2AF2 heterodimer Similarity : Belongs to the splicing factor SR familySimilarity : Contains 2 C3H1-type zinc fingersSimilarity : Contains 1 RRM (RNA recognition motif) domain
Gene Function for U2AF1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_006758 Applied Biosystems Silencer ® siRNAs for U2AF1 Sigma-Aldrich siRNA for U2AF1 Sigma-Aldrich shRNA for U2AF1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001025203                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001025203                                  untagged cDNA clones in CMV expression vector (see all 4 ): AK098266  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001025203 UniProtKB/Swiss-Prot: U2AF1_HUMAN, Q01081 Function : Plays a critical role in both constitutive and enhancer-dependent splicing by mediatingprotein-protein interactions and protein-RNA interactions required for accurate 3'-splice siteselection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 andproteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancercomplex to recruit it to the adjacent intron
Genatlas biochemistry entry for U2AF1 :U2 (RNU2) small nuclear RNA auxiliary factor,small subunit,1,35kDa 5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
):
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Pathways & Interactions for U2AF1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for U2AF1 5/119 Interacting proteins for U2AF1 (ENSP00000369629 3 Q01081 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 119
)About this table 2 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for U2AF1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for U2AF1
Transcripts for U2AF1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
OriGene , Expression Assays from Applied Biosystems )About This Section
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_006758 Sigma-Aldrich siRNA for U2AF1 Sigma-Aldrich shRNA for U2AF1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001025203 NM_001025204 NM_006758
REFSEQ mRNAs for U2AF1 gene (3 alternative transcripts): NM_001025203.1 NM_001025204.1 NM_006758.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001025203 NM_001025204 NM_006758
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001025203                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001025203                                  untagged cDNA clones in CMV expression vector (see all 4 ): AK098266  
Additional cDNA sequence: AB451244.1 AJ627978.1 AK307560.1 BC001177.1 BC001923.1 BC005915.1 CR606196.1 CR622357.1 M96982.1
19 DOTS entries : DT.446719 DT.446720 DT.97859339 DT.97769413 DT.65285770 DT.91755804 DT.97859340 DT.121140803 DT.100814480 DT.100888233 DT.121140765 DT.91770412 DT.97783922 DT.102831722 DT.95246274 DT.95276156 DT.100702294 DT.91652583 DT.91770413
24/333 AceView cDNA sequences (see all 333
):BE043061 CB121342 AI762575 BI089424 AW054922 BU786275 AU117277 AI418754 BI047747 BM451145 BX331525 BQ068770 AA306069 CB110007 BM918437 BM505425 AL522322 AW009580 BM827141 CB114008 BI870370 AA807201 AA580692 CB110063
highest scoring ESTs for U2AF1 :M96982 AA070540 AA172318 AA315164 AL528326 AL528327 BC001177 BC001923 BC005915 BE207111
Unigene Cluster for U2AF1: U2 small nuclear RNA auxiliary factor 1 Hs.365116 [show with all ESTs ] Unigene Representative Sequence: BM916584 GeneLoc Exon Structure 5/6 Alternative Splicing Database (ASD) splice patterns (SP) for U2AF1 (see all 6
) ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9 SP1 :         -     -     -                 SP2 :                         -         SP3 :   -   -     -                         SP4 :     -     -   -   -                     SP5 :                                
About this scheme ECgene alternative splicing isoforms for U2AF1 3 Ensembl transcripts including schematic representations : ENST00000398137
ENST00000380276
ENST00000291552
Expression for U2AF1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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U2AF1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for U2AF1 1 / 2 / 3
9 probe-sets matching U2AF1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CCATTTTTACSOURCE GeneReport for Unigene cluster: Hs.365116 Expression variation in blood from EXPOLDB for U2AF1
Orthologs for U2AF1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for U2AF1 gene from 5/22 species (see all 22
)
About this table Species with no ortholog for U2AF1 ENSEMBL Gene Tree for U2AF1 Paralogs for U2AF1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for U2AF1 gene ZRSR2 2 ZRSR1 2 U2AF1L4 2
SNPs/Variants for U2AF1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for U2AF1 (up to first 250kb)
Disorders & Mutations for U2AF1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 191317
Medical News for U2AF1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for U2AF1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/62 PubMed articles for U2AF1 gene (see all 62
): The splicing factor U2AF35 mediates critical protein-protein interactions in constitutive and enhancer-dependent splicing. (PubMed id 8647433) 1, 3, 4 Zuo P. and Maniatis T. (1996) Cloning and intracellular localization of the U2 small nuclear ribonucleoprotein auxiliary factor small subunit. (PubMed id 1388271) 1, 3, 4 Zhang M.... Green M.R. (1992) 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. (PubMed id 8660980) 1, 2, 3 Lalioti M.D....Antonarakis S.E. (1996) A novel peptide recognition mode revealed by the X-ray structure of a core U2AF35/U2AF65 heterodimer. (PubMed id 11551507) 1, 3, 4 Kielkopf C.L.... Burley S.K. (2001) Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983) 3, 4 Olsen J.V....Mann M. (2006) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PubMed id 11991638) 3, 4 Jurica M.S.... Moore M.J. (2002) ZNF265 -- a novel spliceosomal protein able to induce alternative splicing. (PubMed id 11448987) 3, 4 Adams D.J....Rasko J.E.J. (2001) The DNA sequence of human chromosome 21. (PubMed id 10830953) 3, 4 Hattori M....Yaspo M.L. (2000) Comparative mapping of the imprinted U2afbpL gene on mouse chromosome 11 and human chromosome 5. (PubMed id 7956352) 2, 3 Kalcheva I....Takagi N. (1995)
Search for U2AF1
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Genome Databases showing U2AF1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing U2AF1
(According to HUGE )
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Specialized Databases showing U2AF1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for U2AF1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009