Details for: SF3B6

Gene ID: 51639

Symbol: SF3B6

Ensembl ID: ENSG00000115128

Description: splicing factor 3b subunit 6

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 190.4126
    Cell Significance Index: -78.4400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 168.0217
    Cell Significance Index: -68.2600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 164.4594
    Cell Significance Index: -77.6500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 146.8355
    Cell Significance Index: -75.5300
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 116.5386
    Cell Significance Index: -78.2000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 72.6897
    Cell Significance Index: -69.4000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 20.6916
    Cell Significance Index: -55.4300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 16.9203
    Cell Significance Index: -51.9700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 8.5078
    Cell Significance Index: -18.6200
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 5.6335
    Cell Significance Index: 47.3200
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 4.3198
    Cell Significance Index: 34.4900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 3.7957
    Cell Significance Index: 79.4500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 3.5878
    Cell Significance Index: 94.3400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 3.2769
    Cell Significance Index: 450.0100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 3.2710
    Cell Significance Index: 35.5600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 3.0440
    Cell Significance Index: 226.8700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.8109
    Cell Significance Index: 76.5100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 2.7539
    Cell Significance Index: 129.4300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 2.6288
    Cell Significance Index: 91.3500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.6012
    Cell Significance Index: 1420.5600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 2.5854
    Cell Significance Index: 182.8500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.3322
    Cell Significance Index: 275.0400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 2.2987
    Cell Significance Index: 65.9000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 2.2922
    Cell Significance Index: 296.1400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 2.2721
    Cell Significance Index: 1004.5700
  • Cell Name: peg cell (CL4033014)
    Fold Change: 2.2637
    Cell Significance Index: 52.3000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 2.2455
    Cell Significance Index: 276.1100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 2.2406
    Cell Significance Index: 144.5600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 2.1152
    Cell Significance Index: 381.3000
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 2.1073
    Cell Significance Index: 23.9400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 2.0432
    Cell Significance Index: 18.8200
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.8362
    Cell Significance Index: 23.5200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.6973
    Cell Significance Index: 217.5900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.6611
    Cell Significance Index: 48.7900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.6004
    Cell Significance Index: 74.6200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.3473
    Cell Significance Index: 69.9900
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 1.2772
    Cell Significance Index: 7.8600
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 1.2486
    Cell Significance Index: 22.0700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.0263
    Cell Significance Index: 53.4600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.9957
    Cell Significance Index: 98.5000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5929
    Cell Significance Index: 26.8800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.4689
    Cell Significance Index: 12.5200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.4556
    Cell Significance Index: 8.4200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4541
    Cell Significance Index: 90.1200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3662
    Cell Significance Index: 23.0800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.3266
    Cell Significance Index: 17.1500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2902
    Cell Significance Index: 55.2200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.1663
    Cell Significance Index: 125.8800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1430
    Cell Significance Index: 28.7000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.1028
    Cell Significance Index: 1.7200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0737
    Cell Significance Index: 11.9800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0655
    Cell Significance Index: 48.0300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0237
    Cell Significance Index: 1.2000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0067
    Cell Significance Index: 2.4100
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: -0.0239
    Cell Significance Index: -0.2000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0275
    Cell Significance Index: -51.8200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0305
    Cell Significance Index: -3.1200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0506
    Cell Significance Index: -93.2600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0611
    Cell Significance Index: -94.1200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0683
    Cell Significance Index: -92.8300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0700
    Cell Significance Index: -11.9500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0752
    Cell Significance Index: -55.7200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0997
    Cell Significance Index: -63.3400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1249
    Cell Significance Index: -70.4600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1463
    Cell Significance Index: -91.3800
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1525
    Cell Significance Index: -6.2500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1542
    Cell Significance Index: -69.9800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1542
    Cell Significance Index: -4.3100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1939
    Cell Significance Index: -6.8200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2030
    Cell Significance Index: -23.6600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2039
    Cell Significance Index: -5.2100
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.2135
    Cell Significance Index: -1.2900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2192
    Cell Significance Index: -63.0800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3267
    Cell Significance Index: -3.9000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.3317
    Cell Significance Index: -4.9700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3546
    Cell Significance Index: -40.6300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3772
    Cell Significance Index: -10.0900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.4234
    Cell Significance Index: -89.1700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4292
    Cell Significance Index: -26.3800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.4667
    Cell Significance Index: -67.8500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5032
    Cell Significance Index: -39.8500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.5255
    Cell Significance Index: -7.1700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.5479
    Cell Significance Index: -17.5500
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: -0.5729
    Cell Significance Index: -3.5600
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: -0.7472
    Cell Significance Index: -3.4500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.7515
    Cell Significance Index: -42.1700
  • Cell Name: theca cell (CL0000503)
    Fold Change: -0.7523
    Cell Significance Index: -4.4200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.7661
    Cell Significance Index: -79.7700
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.8324
    Cell Significance Index: -11.6800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.9800
    Cell Significance Index: -75.2100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -1.0222
    Cell Significance Index: -68.7300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -1.0983
    Cell Significance Index: -11.3700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -1.1475
    Cell Significance Index: -24.8600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.2494
    Cell Significance Index: -36.8000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.2571
    Cell Significance Index: -31.4300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.2620
    Cell Significance Index: -77.3700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -1.3430
    Cell Significance Index: -35.9900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -1.6406
    Cell Significance Index: -34.9400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -1.6760
    Cell Significance Index: -43.0800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -1.7124
    Cell Significance Index: -75.7500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** SF3B6 is a subunit of the spliceosome, a complex that recognizes and cleaves the phosphodiester bond between exons and introns in pre-mRNA. This process is essential for the generation of mature mRNA, which is then translated into proteins. SF3B6 is a constitutively expressed gene, meaning its expression levels are relatively stable across different cell types and developmental stages. Its expression is also tissue-specific, with significant levels detected in embryonic stem cells, immune cells, and epithelial cells. **Pathways and Functions:** The SF3B6 gene is involved in several key pathways, including: 1. **Catalytic Step 2 Spliceosome**: SF3B6 is a critical component of the catalytic step 2 of the spliceosome, where the 5' splice site is recognized and the intron is removed. 2. **Metabolism of RNA**: SF3B6 is involved in the processing of pre-mRNA, which is essential for the production of mature mRNA. 3. **mRNA Binding**: SF3B6 binds to pre-mRNA, facilitating the recognition of the 5' splice site and the removal of introns. 4. **mRNA Splicing**: SF3B6 is essential for the splicing of pre-mRNA, which involves the recognition of the 5' and 3' splice sites and the removal of introns. 5. **U2-type Spliceosomal Complex**: SF3B6 is a component of the U2-type spliceosomal complex, which recognizes and cleaves the phosphodiester bond between exons and introns. **Clinical Significance:** Dysregulation of SF3B6 has been implicated in various diseases, including: 1. **Spinal Muscular Atrophy**: Mutations in the SF3B6 gene have been associated with spinal muscular atrophy, a neurodegenerative disorder characterized by muscle weakness and wasting. 2. **Immune System Disorders**: SF3B6 has been shown to play a role in the regulation of immune cell function, and dysregulation of this gene has been implicated in immune system disorders, such as autoimmune diseases. 3. **Cancer**: SF3B6 has been shown to be overexpressed in certain types of cancer, including breast and lung cancer, suggesting its potential as a therapeutic target. In conclusion, SF3B6 is a critical component of the spliceosome, essential for the processing of pre-mRNA and the generation of mature mRNA. Its dysregulation has been implicated in various diseases, highlighting the importance of this gene in maintaining cellular homeostasis and preventing disease. Further research is needed to fully understand the role of SF3B6 in human disease and to develop therapeutic strategies to target this gene.

Genular Protein ID: 273116124

Symbol: SF3B6_HUMAN

Name: Splicing factor 3B subunit 6

UniProtKB Accession Codes:

Q9Y3B4 Q53TM1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 2 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EMBL 8 EMDB 25 Ensembl 1 EvolutionaryTrace 1 GO 13 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 1 PDB 31 PDBsum 31 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TopDownProteomics 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11500380

Title: A novel U2 and U11/U12 snRNP protein that associates with the pre-mRNA branch site.

PubMed ID: 11500380

DOI: 10.1093/emboj/20.16.4536

PubMed ID: 10810093

Title: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.

PubMed ID: 10810093

DOI: 10.1101/gr.10.5.703

PubMed ID: 11042152

Title: Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.

PubMed ID: 11042152

DOI: 10.1101/gr.140200

PubMed ID: 10931946

Title: Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.

PubMed ID: 10931946

DOI: 10.1073/pnas.160270997

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12234937

Title: Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD-box protein.

PubMed ID: 12234937

DOI: 10.1093/emboj/cdf480

PubMed ID: 12738865

Title: Molecular architecture of the multiprotein splicing factor SF3b.

PubMed ID: 12738865

DOI: 10.1126/science.1084155

PubMed ID: 15146077

Title: The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome.

PubMed ID: 15146077

DOI: 10.1261/rna.7320604

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25755297

Title: System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.

PubMed ID: 25755297

DOI: 10.1074/mcp.o114.044792

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 27720643

Title: Molecular architecture of SF3b and structural consequences of its cancer-related mutations.

PubMed ID: 27720643

DOI: 10.1016/j.molcel.2016.08.036

PubMed ID: 28541300

Title: Splicing modulators act at the branch point adenosine binding pocket defined by the PHF5A-SF3b complex.

PubMed ID: 28541300

DOI: 10.1038/ncomms15522

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 16432215

Title: Crystal structure of a core spliceosomal protein interface.

PubMed ID: 16432215

DOI: 10.1073/pnas.0508048103

PubMed ID: 21062891

Title: Structural model of the p14/SF3b155 - branch duplex complex.

PubMed ID: 21062891

DOI: 10.1261/rna.2224411

PubMed ID: 32494006

Title: Molecular architecture of the human 17S U2 snRNP.

PubMed ID: 32494006

DOI: 10.1038/s41586-020-2344-3

PubMed ID: 33509932

Title: Structure of the activated human minor spliceosome.

PubMed ID: 33509932

DOI: 10.1126/science.abg0879

PubMed ID: 34822310

Title: Structural basis of branch site recognition by the human spliceosome.

PubMed ID: 34822310

DOI: 10.1126/science.abm4245

Sequence Information:

  • Length: 125
  • Mass: 14585
  • Checksum: A1439DACB78A3208
  • Sequence:
    • MAMQAAKRAN IRLPPEVNRI LYIRNLPYKI TAEEMYDIFG KYGPIRQIRV GNTPETRGTA 
YVVYEDIFDA KNACDHLSGF NVCNRYLVVL YYNANRAFQK MDTKKKEEQL KLLKEKYGIN 
TDPPK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.