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UniProtKB - O75533 (SF3B1_HUMAN)

Protein

Splicing factor 3B subunit 1

Gene

SF3B1

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

Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex (PubMed:27720643). SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). May also be involved in the assembly of the 'E' complex (PubMed:10882114). Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (PubMed:15146077).4 Publications

<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

  • mRNA binding Source: GO_Central
  • RNA binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • mRNA splicing, via spliceosome Source: UniProtKB
  • positive regulation of gene expression, epigenetic Source: Reactome
  • RNA splicing, via transesterification reactions Source: UniProtKB
  • spliceosomal complex assembly Source: GO_Central
View the 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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5250924 B-WICH complex positively regulates rRNA expression
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway

SIGNOR Signaling Network Open Resource

More...SIGNORi		O75533

<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_and_taxonomy_section">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 3B subunit 1
Alternative name(s):
Pre-mRNA-splicing factor SF3b 155 kDa subunit
Short name:
SF3b155
Spliceosome-associated protein 155
Short name:
SAP 155
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:SF3B1
Synonyms:SAP155
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000115524.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:10768 SF3B1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605590 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O75533

<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; 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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi200W → A: Abolishes interaction with RBM39; when associated with A-218; A-232; A-254; A-293; A-310 and A-338. 1 Publication1
Mutagenesisi218W → A: Abolishes interaction with RBM39; when associated with A-200; A-232; A-254; A-293; A-310 and A-338. 1 Publication1
Mutagenesisi223T → A: No effect on interaction with PPP1R8. 1 Publication1
Mutagenesisi227T → A: No effect on interaction with PPP1R8. 1 Publication1
Mutagenesisi232W → A: Abolishes interaction with RBM39; when associated with A-200; A-218; A-254; A-293; A-310 and A-338. 1 Publication1
Mutagenesisi235T → A: No effect on interaction with PPP1R8. 1 Publication1
Mutagenesisi244T → A: Slight inhibition of interaction with PPP1R8. 1 Publication1
Mutagenesisi248T → A: Slight inhibition of interaction with PPP1R8. 1 Publication1
Mutagenesisi254W → A: Abolishes interaction with RBM39; when associated with A-200; A-218; A-232; A-293; A-310 and A-338. 1 Publication1
Mutagenesisi257T → A: No effect on interaction with PPP1R8. 1 Publication1
Mutagenesisi261T → A: Slight inhibition of interaction with PPP1R8. 1 Publication1
Mutagenesisi267T → A: No effect on interaction with PPP1R8. 1 Publication1
Mutagenesisi273T → A: No effect on interaction with PPP1R8. 1 Publication1
Mutagenesisi278T → A: No effect on interaction with PPP1R8. 1 Publication1
Mutagenesisi293W → A: Abolishes interaction with RBM39; when associated with A-200; A-218; A-232; A-254; A-310 and A-338. 1 Publication1
Mutagenesisi296T → A: No effect on interaction with PPP1R8. 1 Publication1
Mutagenesisi303T → A: No effect on interaction with PPP1R8. 1 Publication1
Mutagenesisi310W → A: Abolishes interaction with RBM39; when associated with A-200; A-218; A-232; A-254; A-293 and A-338. 1 Publication1
Mutagenesisi313T → A: No effect on interaction with PPP1R8. 1 Publication1
Mutagenesisi338W → A: Abolishes interaction with RBM39; when associated with A-200; A-218; A-232; A-254; A-293 and A-310. 1 Publication1
Mutagenesisi700K → E: Does not affect the stability of the SF3B complex interaction with U2AF65. Does not decrease the affinity to RNA. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		23451

MalaCards human disease database

More...MalaCardsi		SF3B1

Open Targets

More...OpenTargetsi		ENSG00000115524

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		75564 Acquired idiopathic sideroblastic anemia
39044 Uveal melanoma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35686

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3885592

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SF3B1

<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 ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001743231 – 1304Splicing factor 3B subunit 1Add BLAST1304

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 residuei125PhosphothreonineCombined sources1
Modified residuei129PhosphoserineCombined sources1
Modified residuei141N6-acetyllysineCombined sources1
Modified residuei142PhosphothreonineCombined sources1
Modified residuei157CitrullineBy similarity1
Modified residuei194PhosphoserineCombined sources1
Modified residuei203PhosphothreonineCombined sources1
Modified residuei207PhosphothreonineCombined sources1
Modified residuei211PhosphothreonineCombined sources1
Modified residuei214N6-acetyllysine; alternateBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki214Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei223PhosphothreonineCombined sources1
Modified residuei227PhosphothreonineCombined sources1
Modified residuei229PhosphoserineBy similarity1
Modified residuei235PhosphothreonineCombined sources1
Modified residuei244Phosphothreonine1 Publication1
Modified residuei248Phosphothreonine1 Publication1
Modified residuei257PhosphothreonineCombined sources1
Modified residuei261PhosphothreonineCombined sources1
Modified residuei267PhosphothreonineCombined sources1
Modified residuei273PhosphothreonineCombined sources1
Modified residuei278PhosphothreonineCombined sources1
Modified residuei287PhosphoserineCombined sources1
Modified residuei296PhosphothreonineCombined sources1
Modified residuei299PhosphothreonineCombined sources1
Modified residuei303PhosphothreonineCombined sources1
Modified residuei313PhosphothreonineCombined sources1
Modified residuei322PhosphoserineCombined sources1
Modified residuei326PhosphothreonineCombined sources1
Modified residuei328PhosphothreonineCombined sources1
Modified residuei332PhosphoserineCombined sources1
Modified residuei341PhosphothreonineCombined sources1
Modified residuei344PhosphoserineCombined sources1
Modified residuei349PhosphoserineCombined sources1
Modified residuei350PhosphothreonineCombined sources1
Modified residuei354PhosphothreonineCombined sources1
Modified residuei400PhosphoserineCombined sources1
Cross-linki413Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki413Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei426PhosphothreonineCombined sources1
Cross-linki430Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei434PhosphothreonineCombined sources1
Modified residuei436PhosphothreonineCombined sources1
Modified residuei488PhosphoserineCombined sources1
Modified residuei554N6-acetyllysineCombined sources1
Modified residuei562N6-acetyllysineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated. Phosphorylation occurs concomitantly with the splicing catalytic steps. Phosphorylation on Thr-244, Thr-248 and Thr-313 by cyclin-dependent kinases promotes interaction with PPP1R8 during mitosis.2 Publications
Citrullinated by PADI4.By similarity

Keywords - PTMi

Acetylation, Citrullination, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O75533

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O75533

MaxQB - The MaxQuant DataBase

More...MaxQBi		O75533

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

More...PaxDbi		O75533

PeptideAtlas

More...PeptideAtlasi		O75533

PRoteomics IDEntifications database

More...PRIDEi		O75533

ProteomicsDB human proteome resource

More...ProteomicsDBi		50072

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O75533

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

More...PhosphoSitePlusi		O75533

SwissPalm database of S-palmitoylation events

More...SwissPalmi		O75533

Miscellaneous databases

CutDB - Proteolytic event database

More...PMAP-CutDBi		O75533

<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		ENSG00000115524 Expressed in 231 organ(s), highest expression level in tibia

CleanEx database of gene expression profiles

More...CleanExi		HS_SF3B1

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O75533 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O75533 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA050275

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21 (PubMed:16603771). Identified in the spliceosome C complex (PubMed:11991638). Component of the U11/U12 snRNPs that are part of the U12-type spliceosome (PubMed:15146077). Component of splicing factor SF3B complex which is composed of at least eight subunits; SF3B1, SF3B2, SF3B3, SF3B4, SF3B5, SF3B6, PHF5A and DDX42 (PubMed:12234937, PubMed:12738865, PubMed:28541300, PubMed:27720643). SF3B associates with the splicing factor SF3A and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP). Interacts directly with the splicing factor U2AF (PubMed:12234937). Within the SF3B complex interacts directly (via HEAT domain) with SF3B3, SF3B5 and (via HEAT domain) with PHF5A (PubMed:27720643). Interacts directly with SF3B6 (PubMed:16432215, Ref. 36, PubMed:21062891). The SF3B complex composed of SF3B1, SF3B2, SF3B3, SF3B4, SF3B5, SF3B6 and PHF5A interacts with U2AF2 (PubMed:27720643). Phosphorylated form interacts with PPP1R8 (PubMed:12105215). Interacts with PQBP1 (PubMed:23512658). Interacts with RBM17 (PubMed:17589525). Interacts with RBM39 (PubMed:24795046). Interacts with SETX (PubMed:21700224). Interacts with RBM15 (PubMed:26575292).16 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei469Interaction with RNA1 Publication1
Sitei587Interaction with RNA1 Publication1
Sitei592Interaction with PHF5A1 Publication1
Sitei602Interaction with SF3B31 Publication1
Sitei677Interaction with SF3B31 Publication1
Sitei1035Interaction with RNA1 Publication1
Sitei1049Interaction with RNA1 Publication1
Sitei1141Interaction with RNA1 Publication1
Sitei1205Interaction with SF3B31 Publication1

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		117017, 281 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-1099 B-WICH chromatin remodelling complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O75533

Database of interacting proteins

More...DIPi		DIP-29411N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		O75533

Protein interaction database and analysis system

More...IntActi		O75533, 65 interactors

Molecular INTeraction database

More...MINTi		O75533

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000335321

<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

11304
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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
2F9DX-ray2.50P/Q373-415[»]
2F9JX-ray3.00P/Q380-415[»]
2FHONMR-A379-424[»]
2PEHX-ray2.11C/D333-342[»]
3LQVX-ray2.38P/Q377-415[»]
4OZ1X-ray1.74C333-342[»]
5IFEX-ray3.10C1-1304[»]
5O9Zelectron microscopy4.50v1-1304[»]
5Z56electron microscopy5.1011-1304[»]
5Z57electron microscopy6.5011-1304[»]
5Z58electron microscopy4.9011-1304[»]
5ZYAelectron microscopy3.95C1-1304[»]
6AH0electron microscopy5.7011-1304[»]
6EN4X-ray3.08C453-1304[»]
6FF4electron microscopy16.00u1-1304[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		O75533

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

More...SMRi		O75533

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		O75533

<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 ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati529 – 568HEAT 1Add BLAST40
Repeati569 – 603HEAT 2Add BLAST35
Repeati604 – 641HEAT 3Add BLAST38
Repeati643 – 677HEAT 4Add BLAST35
Repeati680 – 718HEAT 5Add BLAST39
Repeati763 – 801HEAT 6Add BLAST39
Repeati843 – 881HEAT 7Add BLAST39
Repeati1010 – 1048HEAT 8Add BLAST39
Repeati1052 – 1090HEAT 9Add BLAST39
Repeati1122 – 1160HEAT 10Add BLAST39
Repeati1163 – 1201HEAT 11Add BLAST39

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni190 – 342U2AF homology region; mediates interaction with RBM391 PublicationAdd BLAST153
Regioni223 – 491Interaction with PPP1R81 PublicationAdd BLAST269
Regioni529 – 568Interaction with SF3B14Add BLAST40
Regioni547 – 550Interaction with PHF5A1 Publication4
Regioni1156 – 1157Interaction with PHF5A1 Publication2
Regioni1248 – 1304Interaction with SF3B3 and SF3B51 PublicationAdd BLAST57

<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 SF3B1 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0213 Eukaryota
COG5181 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000018393

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000166737

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG079173

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O75533

KEGG Orthology (KO)

More...KOi		K12828

Identification of Orthologs from Complete Genome Data

More...OMAi		YAVCPLL

Database of Orthologous Groups

More...OrthoDBi		245208at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O75533

TreeFam database of animal gene trees

More...TreeFami		TF105680

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR015016 SF3b_su1
IPR038737 SF3b_su1-like

The PANTHER Classification System

More...PANTHERi		PTHR12097 PTHR12097, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08920 SF3b1, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48371 SSF48371, 1 hit

<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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

This entry describes 2 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75533-1) [UniParc]FASTAAdd to basket

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
MAKIAKTHED IEAQIREIQG KKAALDEAQG VGLDSTGYYD QEIYGGSDSR 
        60         70         80         90        100
FAGYVTSIAA TELEDDDDDY SSSTSLLGQK KPGYHAPVAL LNDIPQSTEQ 
       110        120        130        140        150
YDPFAEHRPP KIADREDEYK KHRRTMIISP ERLDPFADGG KTPDPKMNAR 
       160        170        180        190        200
TYMDVMREQH LTKEEREIRQ QLAEKAKAGE LKVVNGAAAS QPPSKRKRRW 
       210        220        230        240        250
DQTADQTPGA TPKKLSSWDQ AETPGHTPSL RWDETPGRAK GSETPGATPG 
       260        270        280        290        300
SKIWDPTPSH TPAGAATPGR GDTPGHATPG HGGATSSARK NRWDETPKTE 
       310        320        330        340        350
RDTPGHGSGW AETPRTDRGG DSIGETPTPG ASKRKSRWDE TPASQMGGST 
       360        370        380        390        400
PVLTPGKTPI GTPAMNMATP TPGHIMSMTP EQLQAWRWER EIDERNRPLS 
       410        420        430        440        450
DEELDAMFPE GYKVLPPPAG YVPIRTPARK LTATPTPLGG MTGFHMQTED 
       460        470        480        490        500
RTMKSVNDQP SGNLPFLKPD DIQYFDKLLV DVDESTLSPE EQKERKIMKL 
       510        520        530        540        550
LLKIKNGTPP MRKAALRQIT DKAREFGAGP LFNQILPLLM SPTLEDQERH 
       560        570        580        590        600
LLVKVIDRIL YKLDDLVRPY VHKILVVIEP LLIDEDYYAR VEGREIISNL 
       610        620        630        640        650
AKAAGLATMI STMRPDIDNM DEYVRNTTAR AFAVVASALG IPSLLPFLKA 
       660        670        680        690        700
VCKSKKSWQA RHTGIKIVQQ IAILMGCAIL PHLRSLVEII EHGLVDEQQK 
       710        720        730        740        750
VRTISALAIA ALAEAATPYG IESFDSVLKP LWKGIRQHRG KGLAAFLKAI 
       760        770        780        790        800
GYLIPLMDAE YANYYTREVM LILIREFQSP DEEMKKIVLK VVKQCCGTDG 
       810        820        830        840        850
VEANYIKTEI LPPFFKHFWQ HRMALDRRNY RQLVDTTVEL ANKVGAAEII 
       860        870        880        890        900
SRIVDDLKDE AEQYRKMVME TIEKIMGNLG AADIDHKLEE QLIDGILYAF 
       910        920        930        940        950
QEQTTEDSVM LNGFGTVVNA LGKRVKPYLP QICGTVLWRL NNKSAKVRQQ 
       960        970        980        990       1000
AADLISRTAV VMKTCQEEKL MGHLGVVLYE YLGEEYPEVL GSILGALKAI 
      1010       1020       1030       1040       1050
VNVIGMHKMT PPIKDLLPRL TPILKNRHEK VQENCIDLVG RIADRGAEYV 
      1060       1070       1080       1090       1100
SAREWMRICF ELLELLKAHK KAIRRATVNT FGYIAKAIGP HDVLATLLNN 
      1110       1120       1130       1140       1150
LKVQERQNRV CTTVAIAIVA ETCSPFTVLP ALMNEYRVPE LNVQNGVLKS 
      1160       1170       1180       1190       1200
LSFLFEYIGE MGKDYIYAVT PLLEDALMDR DLVHRQTASA VVQHMSLGVY 
      1210       1220       1230       1240       1250
GFGCEDSLNH LLNYVWPNVF ETSPHVIQAV MGALEGLRVA IGPCRMLQYC 
      1260       1270       1280       1290       1300
LQGLFHPARK VRDVYWKIYN SIYIGSQDAL IAHYPRIYND DKNTYIRYEL 

DYIL
Length:1,304
Mass (Da):145,830
Last modified:November 24, 2009 - 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:i12F051757D2B9DEE
GO
Isoform 2 (identifier: O75533-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     140-144: GKTPD → FYSAA
     145-1304: Missing.

Note: No experimental confirmation available.
Show »
Length:144
Mass (Da):16,020
Checksum:i006D4294E06AB51E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DGZ4B4DGZ4_HUMAN
cDNA FLJ57368, highly similar to Sp...
SF3B1
154Annotation score:

Annotation score:1 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>
H7C341H7C341_HUMAN
Splicing factor 3B subunit 1
SF3B1
241Annotation score:

Annotation score:1 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>
F8WC19F8WC19_HUMAN
Splicing factor 3B subunit 1
SF3B1
37Annotation score:

Annotation score:1 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 Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti149A → V in AAC97189 (PubMed:9585501).Curated1
Sequence conflicti594R → L in AAC97189 (PubMed:9585501).Curated1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_046182140 – 144GKTPD → FYSAA in isoform 2. 1 Publication5
Alternative sequenceiVSP_046183145 – 1304Missing in isoform 2. 1 PublicationAdd BLAST1160

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
AF054284 mRNA Translation: AAC97189.1
AF086296 mRNA No translation available.
AC010746 Genomic DNA No translation available.
AF070540 mRNA Translation: AAC28633.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS33356.1 [O75533-1]
CCDS46479.1 [O75533-2]

NCBI Reference Sequences

More...RefSeqi		NP_036565.2, NM_012433.3 [O75533-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.632554

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000335508; ENSP00000335321; ENSG00000115524 [O75533-1]
ENST00000409915; ENSP00000428820; ENSG00000115524 [O75533-2]
ENST00000414963; ENSP00000402997; ENSG00000115524 [O75533-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		23451

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:23451

UCSC genome browser

More...UCSCi		uc002uue.4 human [O75533-1]

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
AF054284 mRNA Translation: AAC97189.1
AF086296 mRNA No translation available.
AC010746 Genomic DNA No translation available.
AF070540 mRNA Translation: AAC28633.1
CCDSiCCDS33356.1 [O75533-1]
CCDS46479.1 [O75533-2]
RefSeqiNP_036565.2, NM_012433.3 [O75533-1]
UniGeneiHs.632554

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2F9DX-ray2.50P/Q373-415[»]
2F9JX-ray3.00P/Q380-415[»]
2FHONMR-A379-424[»]
2PEHX-ray2.11C/D333-342[»]
3LQVX-ray2.38P/Q377-415[»]
4OZ1X-ray1.74C333-342[»]
5IFEX-ray3.10C1-1304[»]
5O9Zelectron microscopy4.50v1-1304[»]
5Z56electron microscopy5.1011-1304[»]
5Z57electron microscopy6.5011-1304[»]
5Z58electron microscopy4.9011-1304[»]
5ZYAelectron microscopy3.95C1-1304[»]
6AH0electron microscopy5.7011-1304[»]
6EN4X-ray3.08C453-1304[»]
6FF4electron microscopy16.00u1-1304[»]
ProteinModelPortaliO75533
SMRiO75533
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117017, 281 interactors
ComplexPortaliCPX-1099 B-WICH chromatin remodelling complex
CORUMiO75533
DIPiDIP-29411N
ELMiO75533
IntActiO75533, 65 interactors
MINTiO75533
STRINGi9606.ENSP00000335321

Chemistry databases

ChEMBLiCHEMBL3885592

PTM databases

iPTMnetiO75533
PhosphoSitePlusiO75533
SwissPalmiO75533

Polymorphism and mutation databases

BioMutaiSF3B1

Proteomic databases

EPDiO75533
jPOSTiO75533
MaxQBiO75533
PaxDbiO75533
PeptideAtlasiO75533
PRIDEiO75533
ProteomicsDBi50072

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000335508; ENSP00000335321; ENSG00000115524 [O75533-1]
ENST00000409915; ENSP00000428820; ENSG00000115524 [O75533-2]
ENST00000414963; ENSP00000402997; ENSG00000115524 [O75533-2]
GeneIDi23451
KEGGihsa:23451
UCSCiuc002uue.4 human [O75533-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		23451
DisGeNETi23451
EuPathDBiHostDB:ENSG00000115524.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		SF3B1
HGNCiHGNC:10768 SF3B1
HPAiHPA050275
MalaCardsiSF3B1
MIMi605590 gene
neXtProtiNX_O75533
OpenTargetsiENSG00000115524
Orphaneti75564 Acquired idiopathic sideroblastic anemia
39044 Uveal melanoma
PharmGKBiPA35686

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0213 Eukaryota
COG5181 LUCA
GeneTreeiENSGT00390000018393
HOGENOMiHOG000166737
HOVERGENiHBG079173
InParanoidiO75533
KOiK12828
OMAiYAVCPLL
OrthoDBi245208at2759
PhylomeDBiO75533
TreeFamiTF105680

Enzyme and pathway databases

ReactomeiR-HSA-5250924 B-WICH complex positively regulates rRNA expression
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway
SIGNORiO75533

Miscellaneous databases

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

More...ChiTaRSi		SF3B1 human
EvolutionaryTraceiO75533

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SF3B1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		23451
PMAP-CutDBiO75533

Protein Ontology

More...PROi		PR:O75533

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000115524 Expressed in 231 organ(s), highest expression level in tibia
CleanExiHS_SF3B1
ExpressionAtlasiO75533 baseline and differential
GenevisibleiO75533 HS

Family and domain databases

Gene3Di1.25.10.10, 2 hits
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR015016 SF3b_su1
IPR038737 SF3b_su1-like
PANTHERiPTHR12097 PTHR12097, 1 hit
PfamiView protein in Pfam
PF08920 SF3b1, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiSF3B1_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: O75533
Secondary accession number(s): E9PCH3
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 14, 2001
Last sequence update: November 24, 2009
Last modified: January 16, 2019
This is version 185 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, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
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