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Aliases for SF3B3 Gene

Aliases for SF3B3 Gene

  • Splicing Factor 3b Subunit 3 2 3 5
  • Pre-MRNA-Splicing Factor SF3b 130 KDa Subunit 3 4
  • Splicing Factor 3b, Subunit 3, 130kDa 2 3
  • Splicing Factor 3b, Subunit 3, 130kD 2 3
  • Spliceosome-Associated Protein 130 3 4
  • SAP 130 3 4
  • SF3b130 3 4
  • STAF130 3 4
  • SAP130 3 4
  • Pre-MRNA Splicing Factor SF3b, 130 KDa Subunit 3
  • KIAA0017 4
  • RSE1 3

External Ids for SF3B3 Gene

Previous GeneCards Identifiers for SF3B3 Gene

  • GC16P061259
  • GC16P070978
  • GC16P070293
  • GC16P070333
  • GC16P069115
  • GC16P070557
  • GC16P056388

Summaries for SF3B3 Gene

Entrez Gene Summary for SF3B3 Gene

  • This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. [provided by RefSeq, Jul 2008]

GeneCards Summary for SF3B3 Gene

SF3B3 (Splicing Factor 3b Subunit 3) is a Protein Coding gene. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is DDB1.

UniProtKB/Swiss-Prot for SF3B3 Gene

  • Subunit of the splicing factor SF3B 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. May also be involved in the assembly of the E complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron.

Gene Wiki entry for SF3B3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SF3B3 Gene

Genomics for SF3B3 Gene

Regulatory Elements for SF3B3 Gene

Enhancers for SF3B3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SF3B3 on UCSC Golden Path with GeneCards custom track

Promoters for SF3B3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SF3B3 on UCSC Golden Path with GeneCards custom track

Genomic Location for SF3B3 Gene

Chromosome:
16
Start:
70,523,788 bp from pter
End:
70,577,670 bp from pter
Size:
53,883 bases
Orientation:
Plus strand

Genomic View for SF3B3 Gene

Genes around SF3B3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SF3B3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SF3B3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SF3B3 Gene

Proteins for SF3B3 Gene

  • Protein details for SF3B3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15393-SF3B3_HUMAN
    Recommended name:
    Splicing factor 3B subunit 3
    Protein Accession:
    Q15393
    Secondary Accessions:
    • Q6NTI8
    • Q96GC0
    • Q9BPY2
    • Q9UFX7
    • Q9UJ29

    Protein attributes for SF3B3 Gene

    Size:
    1217 amino acids
    Molecular mass:
    135577 Da
    Quaternary structure:
    • Identified in the spliceosome C complex. Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. Component of splicing factor SF3B complex which is composed of at least eight subunits; SF3B1, SF3B2, SF3B3, SF3B4, SF3B5, SF3B6, PHF5A/SF3B14B, and DDX42/SF3B125. SF3B associates with the splicing factor SF3A and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP). Interaction between SF3B3 and SF3B1 is tighter than the interaction between SF3B3 and SF3B2. Associates with the STAGA transcription coactivator-HAT complex. Interacts with SUPT3H.
    SequenceCaution:
    • Sequence=BAA02805.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA32662.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SF3B3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SF3B3 Gene

Proteomics data for SF3B3 Gene at MOPED

Post-translational modifications for SF3B3 Gene

  • Ubiquitination at Lys 109, Lys 139, Lys 546, Lys 812, Lys 936, Lys 965, Lys 1049, Lys 1074, and Lys 1171
  • Modification sites at PhosphoSitePlus

Other Protein References for SF3B3 Gene

No data available for DME Specific Peptides for SF3B3 Gene

Domains & Families for SF3B3 Gene

Protein Domains for SF3B3 Gene

Suggested Antigen Peptide Sequences for SF3B3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15393

UniProtKB/Swiss-Prot:

SF3B3_HUMAN :
  • Belongs to the RSE1 family.
Family:
  • Belongs to the RSE1 family.
genes like me logo Genes that share domains with SF3B3: view

No data available for Gene Families for SF3B3 Gene

Function for SF3B3 Gene

Molecular function for SF3B3 Gene

UniProtKB/Swiss-Prot Function:
Subunit of the splicing factor SF3B 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. May also be involved in the assembly of the E complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron.
genes like me logo Genes that share phenotypes with SF3B3: view

Animal Model Products

miRNA for SF3B3 Gene

miRTarBase miRNAs that target SF3B3

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SF3B3 Gene

Localization for SF3B3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SF3B3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SF3B3 Gene COMPARTMENTS Subcellular localization image for SF3B3 gene
Compartment Confidence
nucleus 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for SF3B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005689 U12-type spliceosomal complex IDA 15146077
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with SF3B3: view

Pathways & Interactions for SF3B3 Gene

genes like me logo Genes that share pathways with SF3B3: view

Pathways by source for SF3B3 Gene

1 KEGG pathway for SF3B3 Gene

Gene Ontology (GO) - Biological Process for SF3B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000375 RNA splicing, via transesterification reactions TAS 10490618
GO:0008380 RNA splicing TAS 10490618
genes like me logo Genes that share ontologies with SF3B3: view

No data available for SIGNOR curated interactions for SF3B3 Gene

Drugs & Compounds for SF3B3 Gene

No Compound Related Data Available

Transcripts for SF3B3 Gene

Unigene Clusters for SF3B3 Gene

Splicing factor 3b, subunit 3, 130kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SF3B3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18a ·
SP1: - - -
SP2: -
SP3:
SP4: - - -
SP5: - -
SP6: - -
SP7: - - - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 18b ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c ^ 23a · 23b ^ 24a · 24b · 24c ^ 25 ^ 26a · 26b ^ 27 ^ 28a · 28b ^ 29 ^ 30a · 30b
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13:

Relevant External Links for SF3B3 Gene

GeneLoc Exon Structure for
SF3B3
ECgene alternative splicing isoforms for
SF3B3

Expression for SF3B3 Gene

mRNA expression in normal human tissues for SF3B3 Gene

Protein differential expression in normal tissues from HIPED for SF3B3 Gene

This gene is overexpressed in Lymph node (7.7) and Tlymphocyte (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SF3B3 Gene



SOURCE GeneReport for Unigene cluster for SF3B3 Gene Hs.514435

genes like me logo Genes that share expression patterns with SF3B3: view

Protein tissue co-expression partners for SF3B3 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SF3B3 Gene

Orthologs for SF3B3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SF3B3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SF3B3 35
  • 92.14 (n)
  • 100 (a)
SF3B3 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SF3B3 35
  • 92.08 (n)
  • 99.92 (a)
SF3B3 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sf3b3 35
  • 90.77 (n)
  • 99.92 (a)
Sf3b3 16
Sf3b3 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SF3B3 35
  • 99.67 (n)
  • 100 (a)
SF3B3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sf3b3 35
  • 90.91 (n)
  • 99.92 (a)
oppossum
(Monodelphis domestica)
Mammalia SF3B3 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SF3B3 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves SF3B3 35
  • 82.74 (n)
  • 99.18 (a)
SF3B3 36
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SF3B3 36
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sf3b3 35
  • 79.29 (n)
  • 96.71 (a)
Str.11469 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.7617 35
zebrafish
(Danio rerio)
Actinopterygii LOC100334114 35
  • 78.61 (n)
  • 93.43 (a)
wufb81f05 35
sf3b3 36
  • 93 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2859 35
fruit fly
(Drosophila melanogaster)
Insecta CG13900 37
  • 75 (a)
CG13900 35
  • 66.56 (n)
  • 75.76 (a)
CG13900 36
  • 75 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005549 35
  • 67.38 (n)
  • 78.21 (a)
worm
(Caenorhabditis elegans)
Secernentea K02F2.3 37
  • 60 (a)
teg-4 35
  • 59.46 (n)
  • 61.67 (a)
teg-4 36
  • 60 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSE1 36
  • 20 (a)
OneToMany
RSE1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G55200 35
  • 59.86 (n)
  • 59.13 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.3072 35
rice
(Oryza sativa)
Liliopsida Os.17819 35
Os02g0137400 35
  • 57.68 (n)
  • 56.35 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5102 35
bread mold
(Neurospora crassa)
Ascomycetes NCU00396 35
  • 53.8 (n)
  • 51.37 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes prp12 35
  • 50.7 (n)
  • 47.49 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.949 36
  • 73 (a)
OneToOne
Species with no ortholog for SF3B3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SF3B3 Gene

ENSEMBL:
Gene Tree for SF3B3 (if available)
TreeFam:
Gene Tree for SF3B3 (if available)

Paralogs for SF3B3 Gene

Paralogs for SF3B3 Gene

genes like me logo Genes that share paralogs with SF3B3: view

Variants for SF3B3 Gene

Sequence variations from dbSNP and Humsavar for SF3B3 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs11551673 - 70,565,420(+) TGGTG(C/G)GTGTG reference, missense
rs12909 -- 70,568,318(+) ACTAT(C/T)GGACA reference, synonymous-codon
rs8062178 -- 70,577,329(+) CCGTG(C/G)GGTGT utr-variant-3-prime
rs4284632 -- 70,572,652(+) TGATA(A/C/G)AGCAC utr-variant-3-prime
rs4429290 -- 70,544,315(+) CTTTT(C/T)ACATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SF3B3 Gene

Variant ID Type Subtype PubMed ID
nsv7285 OTHER Inversion 18451855
nsv833272 CNV Loss 17160897
nsv103855 CNV Loss 16902084

Variation tolerance for SF3B3 Gene

Residual Variation Intolerance Score: 2.24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.47; 91.02% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SF3B3 Gene

Disorders for SF3B3 Gene

Relevant External Links for SF3B3

Genetic Association Database (GAD)
SF3B3
Human Genome Epidemiology (HuGE) Navigator
SF3B3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SF3B3

No disorders were found for SF3B3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SF3B3 Gene

Publications for SF3B3 Gene

  1. Characterization of a protein complex containing spliceosomal proteins saps 49,130,145 and 155. (PMID: 10490618) Das B.K. … Reed R. (Mol. Cell. Biol. 1999) 2 3 4 67
  2. UV-damaged DNA-binding protein in the TFTC complex links DNA damage recognition to nucleosome acetylation. (PMID: 11406595) Brand M. … Tora L. (EMBO J. 2001) 3 23
  3. Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. (PMID: 25192599) Wang T. … Xu J. (Neurobiol. Aging 2015) 3
  4. Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. (PMID: 25737280) Murn J. … Shi Y. (Genes Dev. 2015) 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for SF3B3 Gene

Sources for SF3B3 Gene

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