UniProtKB - Q01081 (U2AF1_HUMAN)
Splicing factor U2AF 35 kDa subunit
U2AF1
Functioni
Caution
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 12 – 40 | C3H1-type 1PROSITE-ProRule annotationAdd BLAST | 29 | |
Zinc fingeri | 149 – 176 | C3H1-type 2PROSITE-ProRule annotationAdd BLAST | 28 |
GO - Molecular functioni
- metal ion binding Source: UniProtKB-KW
- pre-mRNA 3'-splice site binding Source: GO_Central
- RNA binding Source: UniProtKB
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
Keywordsi
Molecular function | RNA-binding |
Biological process | mRNA processing, mRNA splicing |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q01081 |
Reactomei | 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 R-HSA-73856, RNA Polymerase II Transcription Termination |
SIGNORi | Q01081 |
Names & Taxonomyi
Protein namesi | Recommended name: Splicing factor U2AF 35 kDa subunitAlternative 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000160201.11 |
HGNCi | HGNC:12453, U2AF1 |
MIMi | 191317, gene |
neXtProti | NX_Q01081 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
- Nucleus speckle 2 Publications
Nucleus
- Cajal body Source: ProtInc
- catalytic step 2 spliceosome Source: UniProtKB
- nuclear speck Source: UniProtKB
- nucleoplasm Source: HPA
- spliceosomal complex Source: HGNC-UCL
- U2AF complex Source: GO_Central
Keywords - Cellular componenti
Nucleus, SpliceosomePathology & Biotechi
Involvement in diseasei
Myelodysplastic syndrome (MDS)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079637 | 34 | S → 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_079638 | 34 | S → Y in MDS; somatic mutation; affects alternative splicing of target sequences. 2 PublicationsCorresponds to variant dbSNP:rs371769427EnsemblClinVar. | 1 | |
Natural variantiVAR_079639 | 157 | Q → R in MDS; somatic mutation; affects alternative splicing of target sequences. 2 PublicationsCorresponds to variant dbSNP:rs371246226EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 134 | W → A: Decreases affinity for UAF2 by 3 orders of magnitude. 1 Publication | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 102724594 7307 |
MalaCardsi | U2AF1 |
MIMi | 614286, phenotype |
OpenTargetsi | ENSG00000160201 |
PharmGKBi | PA37103 |
Miscellaneous databases
Pharosi | Q01081, Tbio |
Polymorphism and mutation databases
BioMutai | U2AF1 |
DMDMi | 267187 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | Removed1 Publication | |||
ChainiPRO_0000081994 | 2 – 240 | Splicing factor U2AF 35 kDa subunitAdd BLAST | 239 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Modified residuei | 2 | N-acetylalanine1 Publication | 1 | ||
Modified residuei | 39 | N6-methyllysineCombined sources | 1 | ||
Modified residuei | 61 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 145 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 165 | Omega-N-methylarginineCombined sources | 1 | ||
Isoform 2 (identifier: Q01081-2) | |||||
Modified residuei | 39 | N6-methyllysineCombined sources | 1 | ||
Isoform 3 (identifier: Q01081-3) | |||||
Modified residuei | 39 | N6-methyllysineCombined sources | 1 |
Keywords - PTMi
Acetylation, Methylation, PhosphoproteinProteomic databases
EPDi | Q01081 |
jPOSTi | Q01081 |
MaxQBi | Q01081 |
PaxDbi | Q01081 |
PeptideAtlasi | Q01081 |
PRIDEi | Q01081 |
ProteomicsDBi | 57906 [Q01081-1] 57907 [Q01081-2] 57908 [Q01081-3] 57909 [Q01081-4] |
PTM databases
iPTMneti | Q01081 |
PhosphoSitePlusi | Q01081 |
SwissPalmi | Q01081 |
Expressioni
Gene expression databases
Bgeei | ENSG00000160201, Expressed in bone marrow and 205 other tissues |
ExpressionAtlasi | Q01081, baseline and differential |
Genevisiblei | Q01081, HS |
Organism-specific databases
HPAi | ENSG00000160201, Low tissue specificity |
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 PublicationsBinary interactionsi
Hide detailsQ01081
Isoform 2 [Q01081-2]
With | #Exp. | IntAct |
---|---|---|
CLK2 [P49760] | 3 | EBI-10176676,EBI-750020 |
RNPS1 [D3DU92] | 3 | EBI-10176676,EBI-10176640 |
SRPK2 [P78362] | 3 | EBI-10176676,EBI-593303 |
Protein-protein interaction databases
BioGRIDi | 113157, 171 interactors 3195698, 21 interactors |
CORUMi | Q01081 |
DIPi | DIP-1108N |
IntActi | Q01081, 60 interactors |
MINTi | Q01081 |
STRINGi | 9606.ENSP00000485022 |
Miscellaneous databases
RNActi | Q01081, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q01081 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q01081 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 65 – 147 | RRMPROSITE-ProRule annotationAdd BLAST | 83 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 178 – 240 | Arg/Gly/Ser-rich (RS domain)Add BLAST | 63 | |
Compositional biasi | 210 – 223 | Poly-GlyAdd BLAST | 14 |
Domaini
Sequence similaritiesi
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 12 – 40 | C3H1-type 1PROSITE-ProRule annotationAdd BLAST | 29 | |
Zinc fingeri | 149 – 176 | C3H1-type 2PROSITE-ProRule annotationAdd BLAST | 28 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG2202, Eukaryota |
GeneTreei | ENSGT00950000183152 |
HOGENOMi | CLU_059852_4_0_1 |
InParanoidi | Q01081 |
OMAi | RNIIPRI |
PhylomeDBi | Q01081 |
TreeFami | TF300143 |
Family and domain databases
DisProti | DP01456 |
Gene3Di | 3.30.70.330, 1 hit |
IDEALi | IID00205 |
InterProi | View 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 |
PANTHERi | PTHR12620, PTHR12620, 1 hit |
Pfami | View protein in Pfam PF00076, RRM_1, 1 hit PF00642, zf-CCCH, 2 hits |
PRINTSi | PR01848, U2AUXFACTOR |
SMARTi | View protein in SMART SM00360, RRM, 1 hit SM00361, RRM_1, 1 hit SM00356, ZnF_C3H1, 2 hits |
SUPFAMi | SSF54928, SSF54928, 1 hit |
PROSITEi | View protein in PROSITE PS50102, RRM, 1 hit PS50103, ZF_C3H1, 2 hits |
s (4)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
The sequence of this isoform differs from the canonical sequence as follows:
47-66: ALLNIYRNPQNSSQSADGLR → LIQNIYRNPQNSAQTADGSH
The sequence of this isoform differs from the canonical sequence as follows:
47-66: ALLNIYRNPQNSSQSADGLR → LIQNIYRNPQNSAQTADGSH
67-75: CAVSDVEMQ → YHCPLEHLP
76-240: Missing.
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079637 | 34 | S → 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_079638 | 34 | S → Y in MDS; somatic mutation; affects alternative splicing of target sequences. 2 PublicationsCorresponds to variant dbSNP:rs371769427EnsemblClinVar. | 1 | |
Natural variantiVAR_079639 | 157 | Q → R in MDS; somatic mutation; affects alternative splicing of target sequences. 2 PublicationsCorresponds to variant dbSNP:rs371246226EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_042664 | 1 – 73 | Missing in isoform 4. 1 PublicationAdd BLAST | 73 | |
Alternative sequenceiVSP_042665 | 47 – 66 | ALLNI…ADGLR → LIQNIYRNPQNSAQTADGSH in isoform 2 and isoform 3. 1 PublicationAdd BLAST | 20 | |
Alternative sequenceiVSP_042666 | 67 – 75 | CAVSDVEMQ → YHCPLEHLP in isoform 3. Curated | 9 | |
Alternative sequenceiVSP_042667 | 76 – 240 | Missing in isoform 3. CuratedAdd BLAST | 165 |
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 |
CCDSi | CCDS13694.1 [Q01081-1] CCDS33574.1 [Q01081-2] CCDS42948.1 [Q01081-4] |
PIRi | A46179 |
RefSeqi | NP_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] |
Genome annotation databases
Ensembli | ENST00000291552; ENSP00000291552; ENSG00000160201 [Q01081-1] ENST00000380276; ENSP00000369629; ENSG00000160201 [Q01081-2] ENST00000398137; ENSP00000381205; ENSG00000160201 [Q01081-4] ENST00000459639; ENSP00000418705; ENSG00000160201 [Q01081-4] ENST00000464750; ENSP00000420672; ENSG00000160201 [Q01081-3] |
GeneIDi | 102724594 7307 |
KEGGi | hsa:102724594 hsa:7307 |
UCSCi | uc002zcy.1, human [Q01081-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS13694.1 [Q01081-1] CCDS33574.1 [Q01081-2] CCDS42948.1 [Q01081-4] |
PIRi | A46179 |
RefSeqi | NP_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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1JMT | X-ray | 2.20 | A | 43-146 | [»] | |
SMRi | Q01081 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 113157, 171 interactors 3195698, 21 interactors |
CORUMi | Q01081 |
DIPi | DIP-1108N |
IntActi | Q01081, 60 interactors |
MINTi | Q01081 |
STRINGi | 9606.ENSP00000485022 |
PTM databases
iPTMneti | Q01081 |
PhosphoSitePlusi | Q01081 |
SwissPalmi | Q01081 |
Polymorphism and mutation databases
BioMutai | U2AF1 |
DMDMi | 267187 |
Proteomic databases
EPDi | Q01081 |
jPOSTi | Q01081 |
MaxQBi | Q01081 |
PaxDbi | Q01081 |
PeptideAtlasi | Q01081 |
PRIDEi | Q01081 |
ProteomicsDBi | 57906 [Q01081-1] 57907 [Q01081-2] 57908 [Q01081-3] 57909 [Q01081-4] |
Protocols and materials databases
Antibodypediai | 23951, 206 antibodies |
DNASUi | 7307 |
Genome annotation databases
Ensembli | ENST00000291552; ENSP00000291552; ENSG00000160201 [Q01081-1] ENST00000380276; ENSP00000369629; ENSG00000160201 [Q01081-2] ENST00000398137; ENSP00000381205; ENSG00000160201 [Q01081-4] ENST00000459639; ENSP00000418705; ENSG00000160201 [Q01081-4] ENST00000464750; ENSP00000420672; ENSG00000160201 [Q01081-3] |
GeneIDi | 102724594 7307 |
KEGGi | hsa:102724594 hsa:7307 |
UCSCi | uc002zcy.1, human [Q01081-1] |
Organism-specific databases
CTDi | 102724594 7307 |
DisGeNETi | 102724594 7307 |
EuPathDBi | HostDB:ENSG00000160201.11 |
GeneCardsi | U2AF1 |
HGNCi | HGNC:12453, U2AF1 |
HPAi | ENSG00000160201, Low tissue specificity |
MalaCardsi | U2AF1 |
MIMi | 191317, gene 614286, phenotype |
neXtProti | NX_Q01081 |
OpenTargetsi | ENSG00000160201 |
PharmGKBi | PA37103 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2202, Eukaryota |
GeneTreei | ENSGT00950000183152 |
HOGENOMi | CLU_059852_4_0_1 |
InParanoidi | Q01081 |
OMAi | RNIIPRI |
PhylomeDBi | Q01081 |
TreeFami | TF300143 |
Enzyme and pathway databases
PathwayCommonsi | Q01081 |
Reactomei | 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 R-HSA-73856, RNA Polymerase II Transcription Termination |
SIGNORi | Q01081 |
Miscellaneous databases
BioGRID-ORCSi | 7307, 760 hits in 850 CRISPR screens |
ChiTaRSi | U2AF1, human |
EvolutionaryTracei | Q01081 |
GeneWikii | U2_small_nuclear_RNA_auxiliary_factor_1 |
Pharosi | Q01081, Tbio |
PROi | PR:Q01081 |
RNActi | Q01081, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000160201, Expressed in bone marrow and 205 other tissues |
ExpressionAtlasi | Q01081, baseline and differential |
Genevisiblei | Q01081, HS |
Family and domain databases
DisProti | DP01456 |
Gene3Di | 3.30.70.330, 1 hit |
IDEALi | IID00205 |
InterProi | View 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 |
PANTHERi | PTHR12620, PTHR12620, 1 hit |
Pfami | View protein in Pfam PF00076, RRM_1, 1 hit PF00642, zf-CCCH, 2 hits |
PRINTSi | PR01848, U2AUXFACTOR |
SMARTi | View protein in SMART SM00360, RRM, 1 hit SM00361, RRM_1, 1 hit SM00356, ZnF_C3H1, 2 hits |
SUPFAMi | SSF54928, SSF54928, 1 hit |
PROSITEi | View protein in PROSITE PS50102, RRM, 1 hit PS50103, ZF_C3H1, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | U2AF1_HUMAN | |
Accessioni | Q01081Primary (citable) accession number: Q01081 Secondary accession number(s): Q701P4, Q71RF1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 1, 1993 |
Last sequence update: | January 23, 2007 | |
Last modified: | December 2, 2020 | |
This is version 228 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Direct protein sequencing, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations