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UniProtKB - Q01081 (U2AF1_HUMAN)

Entry version 228 (02 Dec 2020)
Sequence version 3 (23 Jan 2007)
Previous versions | rss
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Protein

Splicing factor U2AF 35 kDa subunit

Gene

U2AF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri12 – 40C3H1-type 1PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri149 – 176C3H1-type 2PROSITE-ProRule annotationAdd BLAST28

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q01081

Reactome - a knowledgebase of biological pathways and processes

More...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

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q01081

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:U2AF1
Synonyms:U2AF35, U2AFBP
ORF Names:FP793
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 21

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000160201.11

Human Gene Nomenclature Database

More...HGNCi		HGNC:12453, U2AF1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		191317, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q01081

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus, Spliceosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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).
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi134W → A: Decreases affinity for UAF2 by 3 orders of magnitude. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		102724594
7307

MalaCards human disease database

More...MalaCardsi		U2AF1
MIMi614286, phenotype

Open Targets

More...OpenTargetsi		ENSG00000160201

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA37103

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q01081, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		U2AF1

Domain mapping of disease mutations (DMDM)

More...DMDMi		267187

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000819942 – 240Splicing factor U2AF 35 kDa subunitAdd BLAST239

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...EPDi		Q01081

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q01081

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q01081

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q01081

PeptideAtlas

More...PeptideAtlasi		Q01081

PRoteomics IDEntifications database

More...PRIDEi		Q01081

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		57906 [Q01081-1]
57907 [Q01081-2]
57908 [Q01081-3]
57909 [Q01081-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q01081

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q01081

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q01081

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000160201, Expressed in bone marrow and 205 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q01081, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q01081, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000160201, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		113157, 171 interactors
3195698, 21 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q01081

Database of interacting proteins

More...DIPi		DIP-1108N

Protein interaction database and analysis system

More...IntActi		Q01081, 60 interactors

Molecular INTeraction database

More...MINTi		Q01081

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000485022

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q01081, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1240
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q01081

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q01081

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini65 – 147RRMPROSITE-ProRule annotationAdd BLAST83

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi178 – 240Arg/Gly/Ser-rich (RS domain)Add BLAST63
Compositional biasi210 – 223Poly-GlyAdd BLAST14

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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.

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2202, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183152

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_059852_4_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q01081

Identification of Orthologs from Complete Genome Data

More...OMAi		RNIIPRI

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q01081

TreeFam database of animal gene trees

More...TreeFami		TF300143

Family and domain databases

Database of protein disorder

More...DisProti		DP01456

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.70.330, 1 hit

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00205

Integrated resource of protein families, domains and functional sites

More...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

The PANTHER Classification System

More...PANTHERi		PTHR12620, PTHR12620, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00076, RRM_1, 1 hit
PF00642, zf-CCCH, 2 hits

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01848, U2AUXFACTOR

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00360, RRM, 1 hit
SM00361, RRM_1, 1 hit
SM00356, ZnF_C3H1, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF54928, SSF54928, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50102, RRM, 1 hit
PS50103, ZF_C3H1, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.Curated
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.Curated
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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13694.1 [Q01081-1]
CCDS33574.1 [Q01081-2]
CCDS42948.1 [Q01081-4]

Protein sequence database of the Protein Information Resource

More...PIRi		A46179

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...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]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		102724594
7307

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:102724594
hsa:7307

UCSC genome browser

More...UCSCi		uc002zcy.1, human [Q01081-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1JMTX-ray2.20A43-146[»]
SMRiQ01081
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi113157, 171 interactors
3195698, 21 interactors
CORUMiQ01081
DIPiDIP-1108N
IntActiQ01081, 60 interactors
MINTiQ01081
STRINGi9606.ENSP00000485022

PTM databases

iPTMnetiQ01081
PhosphoSitePlusiQ01081
SwissPalmiQ01081

Polymorphism and mutation databases

BioMutaiU2AF1
DMDMi267187

Proteomic databases

EPDiQ01081
jPOSTiQ01081
MaxQBiQ01081
PaxDbiQ01081
PeptideAtlasiQ01081
PRIDEiQ01081
ProteomicsDBi57906 [Q01081-1]
57907 [Q01081-2]
57908 [Q01081-3]
57909 [Q01081-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		23951, 206 antibodies

The DNASU plasmid repository

More...DNASUi		7307

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]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		102724594
7307
DisGeNETi102724594
7307
EuPathDBiHostDB:ENSG00000160201.11

GeneCards: human genes, protein and diseases

More...GeneCardsi		U2AF1
HGNCiHGNC:12453, U2AF1
HPAiENSG00000160201, Low tissue specificity
MalaCardsiU2AF1
MIMi191317, gene
614286, phenotype
neXtProtiNX_Q01081
OpenTargetsiENSG00000160201
PharmGKBiPA37103

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2202, Eukaryota
GeneTreeiENSGT00950000183152
HOGENOMiCLU_059852_4_0_1
InParanoidiQ01081
OMAiRNIIPRI
PhylomeDBiQ01081
TreeFamiTF300143

Enzyme and pathway databases

PathwayCommonsiQ01081
ReactomeiR-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
SIGNORiQ01081

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		7307, 760 hits in 850 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		U2AF1, human
EvolutionaryTraceiQ01081

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		U2_small_nuclear_RNA_auxiliary_factor_1
PharosiQ01081, Tbio

Protein Ontology

More...PROi		PR:Q01081
RNActiQ01081, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000160201, Expressed in bone marrow and 205 other tissues
ExpressionAtlasiQ01081, baseline and differential
GenevisibleiQ01081, HS

Family and domain databases

DisProtiDP01456
Gene3Di3.30.70.330, 1 hit
IDEALiIID00205
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiU2AF1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q01081
Secondary accession number(s): Q701P4, Q71RF1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

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