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UniProtKB - Q01081 (U2AF1_HUMAN)

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Protein

Splicing factor U2AF 35 kDa subunit

Gene

U2AF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.3 Publications

Caution

There is a duplication of the U2AF1 gene on chromosome 21. U2AF1 (AC Q01081) and U2AF1L5 (AC P0DN76) encode identical proteins.Curated

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri12 – 40C3H1-type 1PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri149 – 176C3H1-type 2PROSITE-ProRule annotationAdd BLAST28

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • mRNA 3'-end processing Source: Reactome
  • mRNA export from nucleus Source: Reactome
  • mRNA processing Source: ProtInc
  • mRNA splicing, via spliceosome Source: GO_Central
  • RNA export from nucleus Source: Reactome
  • RNA splicing Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionRNA-binding
Biological processmRNA processing, mRNA splicing
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-109688 Cleavage of Growing Transcript in the Termination Region
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72187 mRNA 3'-end processing
SIGNORiQ01081

Names & Taxonomyi

Protein namesi
Recommended name:
Splicing factor U2AF 35 kDa subunit
Alternative name(s):
U2 auxiliary factor 35 kDa subunit
U2 small nuclear RNA auxiliary factor 1
U2 snRNP auxiliary factor small subunit
Gene namesi
Name:U2AF1
Synonyms:U2AF35, U2AFBP
ORF Names:FP793
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000160201.11
HGNCiHGNC:12453 U2AF1
MIMi191317 gene
neXtProtiNX_Q01081

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus, Spliceosome

Pathology & Biotechi

Involvement in diseasei

Myelodysplastic syndrome (MDS)2 Publications
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.1 Publication
Disease descriptionA 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).
See also OMIM:614286
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07963734S → F in MDS; somatic mutation; affects alternative splicing of target sequences resulting in increased splicing efficiency, exon skipping and alternative splice site utilization; no effect on localization to nuclear speckles. 2 PublicationsCorresponds to variant dbSNP:rs371769427EnsemblClinVar.1
Natural variantiVAR_07963834S → Y in MDS; somatic mutation; affects alternative splicing of target sequences. 2 PublicationsCorresponds to variant dbSNP:rs371769427EnsemblClinVar.1
Natural variantiVAR_079639157Q → R in MDS; somatic mutation; affects alternative splicing of target sequences. 2 PublicationsCorresponds to variant dbSNP:rs371246226EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi134W → A: Decreases affinity for UAF2 by 3 orders of magnitude. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi102724594
7307
MalaCardsiU2AF1
MIMi614286 phenotype
OpenTargetsiENSG00000160201
PharmGKBiPA37103

Polymorphism and mutation databases

BioMutaiU2AF1
DMDMi267187

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00000819942 – 240Splicing factor U2AF 35 kDa subunitAdd BLAST239

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanine1 Publication1
Modified residuei39N6-methyllysineCombined sources1
Modified residuei61PhosphoserineCombined sources1
Modified residuei145PhosphoserineCombined sources1
Modified residuei165Omega-N-methylarginineCombined sources1
Isoform 2 (identifier: Q01081-2)
Modified residuei39N6-methyllysineCombined sources1
Isoform 3 (identifier: Q01081-3)
Modified residuei39N6-methyllysineCombined sources1

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

EPDiQ01081
MaxQBiQ01081
PaxDbiQ01081
PeptideAtlasiQ01081
PRIDEiQ01081
ProteomicsDBi57906
57907 [Q01081-2]
57908 [Q01081-3]
57909 [Q01081-4]

PTM databases

iPTMnetiQ01081
PhosphoSitePlusiQ01081
SwissPalmiQ01081

Expressioni

Gene expression databases

BgeeiENSG00000160201
CleanExiHS_U2AF1
ExpressionAtlasiQ01081 baseline and differential
GenevisibleiQ01081 HS

Organism-specific databases

HPAiHPA044833
HPA052083

Interactioni

Subunit structurei

Interacts (via RS domain) with PHF5A (via N-terminus) (By similarity). Identified in the spliceosome C complex. Heterodimer with U2AF2. Interacts with ZRANB2.By similarity3 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi113157, 130 interactors
3195698, 2 interactors
CORUMiQ01081
DIPiDIP-1108N
IntActiQ01081, 44 interactors
MINTiQ01081
STRINGi9606.ENSP00000291552

Structurei

Secondary structure

1240
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi45 – 53Combined sources9
Helixi64 – 92Combined sources29
Beta strandi96 – 101Combined sources6
Beta strandi104 – 118Combined sources15
Helixi120 – 130Combined sources11
Beta strandi142 – 144Combined sources3

3D structure databases

ProteinModelPortaliQ01081
SMRiQ01081
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ01081

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini65 – 147RRMPROSITE-ProRule annotationAdd BLAST83

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi178 – 240Arg/Gly/Ser-rich (RS domain)Add BLAST63
Compositional biasi210 – 223Poly-GlyAdd BLAST14

Domaini

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.

Sequence similaritiesi

Belongs to the splicing factor SR family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri12 – 40C3H1-type 1PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri149 – 176C3H1-type 2PROSITE-ProRule annotationAdd BLAST28

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG2202 Eukaryota
ENOG410Z5PX LUCA
GeneTreeiENSGT00530000063193
HOGENOMiHOG000178619
HOVERGENiHBG054605
InParanoidiQ01081
KOiK12836
OMAiMHLRLAS
OrthoDBiEOG091G0CUI
PhylomeDBiQ01081
TreeFamiTF300143

Family and domain databases

Gene3Di3.30.70.330, 1 hit
InterProiView protein in InterPro
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
IPR003954 RRM_dom_euk
IPR009145 U2AF_small
IPR000571 Znf_CCCH
PANTHERiPTHR12620 PTHR12620, 1 hit
PfamiView protein in Pfam
PF00076 RRM_1, 1 hit
PF00642 zf-CCCH, 2 hits
PRINTSiPR01848 U2AUXFACTOR
SMARTiView protein in SMART
SM00360 RRM, 1 hit
SM00361 RRM_1, 1 hit
SM00356 ZnF_C3H1, 2 hits
SUPFAMiSSF54928 SSF54928, 1 hit
PROSITEiView protein in PROSITE
PS50102 RRM, 1 hit
PS50103 ZF_C3H1, 2 hits

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q01081-1) [UniParc]FASTAAdd to basket
Also known as: U2AF35a

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAEYLASIFG TEKDKVNCSF YFKIGACRHG DRCSRLHNKP TFSQTIALLN 
        60         70         80         90        100
IYRNPQNSSQ SADGLRCAVS DVEMQEHYDE FFEEVFTEME EKYGEVEEMN 
       110        120        130        140        150
VCDNLGDHLV GNVYVKFRRE EDAEKAVIDL NNRWFNGQPI HAELSPVTDF 
       160        170        180        190        200
REACCRQYEM GECTRGGFCN FMHLKPISRE LRRELYGRRR KKHRSRSRSR 
       210        220        230        240
ERRSRSRDRG RGGGGGGGGG GGGRERDRRR SRDRERSGRF
Length:240
Mass (Da):27,872
Last modified:January 23, 2007 - v3
Checksum:i3DA130DCE0B953F6
GO
Isoform 2 (identifier: Q01081-2) [UniParc]FASTAAdd to basket
Also known as: U2AF35b

The sequence of this isoform differs from the canonical sequence as follows:
     47-66: ALLNIYRNPQNSSQSADGLR → LIQNIYRNPQNSAQTADGSH

Note: Interacts with U2AF2 and stimulates U2AF splicing activity in vitro. Less efficient than isoform 1.Combined sources
Show »
Length:240
Mass (Da):27,882
Checksum:iDDBE62F36F0CDF52
GO
Isoform 3 (identifier: Q01081-3) [UniParc]FASTAAdd to basket
Also known as: U2AF35c

The sequence of this isoform differs from the canonical sequence as follows:
     47-66: ALLNIYRNPQNSSQSADGLR → LIQNIYRNPQNSAQTADGSH
     67-75: CAVSDVEMQ → YHCPLEHLP
     76-240: Missing.

Note: Produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Combined sources
Show »
Length:75
Mass (Da):8,572
Checksum:i30BF651C83599A9D
GO
Isoform 4 (identifier: Q01081-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: Missing.

Show »
Length:167
Mass (Da):19,715
Checksum:i3EBB13A8234C736B
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07963734S → F in MDS; somatic mutation; affects alternative splicing of target sequences resulting in increased splicing efficiency, exon skipping and alternative splice site utilization; no effect on localization to nuclear speckles. 2 PublicationsCorresponds to variant dbSNP:rs371769427EnsemblClinVar.1
Natural variantiVAR_07963834S → Y in MDS; somatic mutation; affects alternative splicing of target sequences. 2 PublicationsCorresponds to variant dbSNP:rs371769427EnsemblClinVar.1
Natural variantiVAR_079639157Q → R in MDS; somatic mutation; affects alternative splicing of target sequences. 2 PublicationsCorresponds to variant dbSNP:rs371246226EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0426641 – 73Missing in isoform 4. 1 PublicationAdd BLAST73
Alternative sequenceiVSP_04266547 – 66ALLNI…ADGLR → LIQNIYRNPQNSAQTADGSH in isoform 2 and isoform 3. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_04266667 – 75CAVSDVEMQ → YHCPLEHLP in isoform 3. Curated9
Alternative sequenceiVSP_04266776 – 240Missing in isoform 3. CuratedAdd BLAST165

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M96982 mRNA Translation: AAA36619.1
AJ627978 mRNA Translation: CAF29556.1
AF370386 mRNA Translation: AAQ15222.1
AP001631 Genomic DNA No translation available.
AP001748 Genomic DNA Translation: BAA95534.1
CH471079 Genomic DNA Translation: EAX09501.1
CH471079 Genomic DNA Translation: EAX09502.1
CH471079 Genomic DNA Translation: EAX09504.1
CH471079 Genomic DNA Translation: EAX09505.1
BC001177 mRNA Translation: AAH01177.1
BC001923 mRNA Translation: AAH01923.1
CCDSiCCDS13694.1 [Q01081-1]
CCDS33574.1 [Q01081-2]
CCDS42948.1 [Q01081-4]
PIRiA46179
RefSeqiNP_001020374.1, NM_001025203.1 [Q01081-2]
NP_001020375.1, NM_001025204.1 [Q01081-4]
NP_001307575.1, NM_001320646.1 [Q01081-1]
NP_001307577.1, NM_001320648.1 [Q01081-2]
NP_001307580.1, NM_001320651.1 [Q01081-4]
NP_006749.1, NM_006758.2 [Q01081-1]
UniGeneiHs.365116

Genome annotation databases

EnsembliENST00000291552; ENSP00000291552; ENSG00000160201 [Q01081-1]
ENST00000380276; ENSP00000369629; ENSG00000160201 [Q01081-2]
ENST00000398137; ENSP00000381205; ENSG00000160201 [Q01081-4]
ENST00000459639; ENSP00000418705; ENSG00000160201 [Q01081-4]
ENST00000464750; ENSP00000420672; ENSG00000160201 [Q01081-3]
GeneIDi102724594
7307
KEGGihsa:102724594
hsa:7307
UCSCiuc002zcy.1 human [Q01081-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiU2AF1_HUMAN
AccessioniPrimary (citable) accession number: Q01081
Secondary accession number(s): Q701P4, Q71RF1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: January 23, 2007
Last modified: July 18, 2018
This is version 207 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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