Details for: SF3A1

Gene ID: 10291

Symbol: SF3A1

Ensembl ID: ENSG00000099995

Description: splicing factor 3a subunit 1

Associated with

Cells (max top 100)

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

  • Cell Name: germ cell (CL0000586)
    Fold Change: 2.99
    Marker Score: 5,232
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.66
    Marker Score: 19,252
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 1.52
    Marker Score: 2,973
  • Cell Name: double negative T regulatory cell (CL0011024)
    Fold Change: 1.48
    Marker Score: 1,435
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 1.48
    Marker Score: 78,112
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.44
    Marker Score: 3,932
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.44
    Marker Score: 582
  • Cell Name: CD38-negative naive B cell (CL0002102)
    Fold Change: 1.42
    Marker Score: 2,967
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.4
    Marker Score: 1,864
  • Cell Name: naive regulatory T cell (CL0002677)
    Fold Change: 1.39
    Marker Score: 422
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 1.38
    Marker Score: 1,905
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 1.38
    Marker Score: 5,912
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.36
    Marker Score: 13,671
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.35
    Marker Score: 1,437
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 1.35
    Marker Score: 4,255
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.34
    Marker Score: 1,932
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.34
    Marker Score: 1,444
  • Cell Name: neural cell (CL0002319)
    Fold Change: 1.34
    Marker Score: 646
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.33
    Marker Score: 701
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 1.33
    Marker Score: 1,043
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.31
    Marker Score: 1,321
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.31
    Marker Score: 9,738
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.3
    Marker Score: 374
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.3
    Marker Score: 2,128
  • Cell Name: Unknown (CL0000548)
    Fold Change: 1.3
    Marker Score: 945
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 1.28
    Marker Score: 3,125
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.28
    Marker Score: 8,297
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.27
    Marker Score: 1,595
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 1.24
    Marker Score: 899
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.22
    Marker Score: 670
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.2
    Marker Score: 817
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 1.2
    Marker Score: 3,372
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.2
    Marker Score: 901
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.19
    Marker Score: 382
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 1.18
    Marker Score: 413
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 1.18
    Marker Score: 1,048
  • Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
    Fold Change: 1.18
    Marker Score: 851
  • Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
    Fold Change: 1.17
    Marker Score: 1,024
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.16
    Marker Score: 3,157
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 1.16
    Marker Score: 846
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 1.15
    Marker Score: 572
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 1.14
    Marker Score: 1,673
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 1.13
    Marker Score: 1,067
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 1.13
    Marker Score: 1,599
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 1.12
    Marker Score: 11,106
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 1.1
    Marker Score: 1,972
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 1.09
    Marker Score: 2,114
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.08
    Marker Score: 1,155
  • Cell Name: B-1b B cell (CL0000821)
    Fold Change: 1.08
    Marker Score: 249
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.08
    Marker Score: 1,883
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.08
    Marker Score: 3,203
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.06
    Marker Score: 1,108
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 1.06
    Marker Score: 2,639
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 1.05
    Marker Score: 864
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.05
    Marker Score: 6,715
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.05
    Marker Score: 715
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.04
    Marker Score: 1,536
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 1.04
    Marker Score: 14,004
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.04
    Marker Score: 3,834
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 1.03
    Marker Score: 1,241
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.03
    Marker Score: 1,823
  • Cell Name: oocyte (CL0000023)
    Fold Change: 1.02
    Marker Score: 253
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.02
    Marker Score: 1,079
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.02
    Marker Score: 2,321
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 1.01
    Marker Score: 593
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1
    Marker Score: 202
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 1
    Marker Score: 1,205
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1
    Marker Score: 238
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,601
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 0.99
    Marker Score: 1,081
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47,825
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.99
    Marker Score: 486
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.99
    Marker Score: 658
  • Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
    Fold Change: 0.99
    Marker Score: 922
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,373
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.97
    Marker Score: 54,472
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.97
    Marker Score: 5,750
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.97
    Marker Score: 1,012
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 0.97
    Marker Score: 731
  • Cell Name: DN1 thymic pro-T cell (CL0000894)
    Fold Change: 0.96
    Marker Score: 298
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.96
    Marker Score: 975
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.96
    Marker Score: 545
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.95
    Marker Score: 474
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.95
    Marker Score: 2,336
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.95
    Marker Score: 997
  • Cell Name: T follicular helper cell (CL0002038)
    Fold Change: 0.95
    Marker Score: 785
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.94
    Marker Score: 911
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.94
    Marker Score: 630
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 0.94
    Marker Score: 249
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.94
    Marker Score: 941
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2,377
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.93
    Marker Score: 230
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.93
    Marker Score: 8,084
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.93
    Marker Score: 1,943
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.93
    Marker Score: 454
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 478
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.93
    Marker Score: 323
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 436
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: 0.92
    Marker Score: 1,581
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.92
    Marker Score: 614

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:** 1. **Gene Location and Expression:** The SF3A1 gene is located on chromosome 5q31.1 and is significantly expressed in germ cells, blood cells, and immune cells, including double-positive, alpha-beta thymocytes, double-negative T regulatory cells, and mature alpha-beta T cells. 2. **Protein Structure:** The Splicing Factor 3A subunit 1 protein is a 350-kDa protein composed of three distinct domains: the catalytic domain, the RNA-binding domain, and the C-terminal domain. 3. **Function:** SF3A1 is a catalytic subunit of the spliceosome complex, responsible for the catalytic step 2 of pre-mRNA splicing, which involves the recognition and excision of introns. **Pathways and Functions:** 1. **Catalytic Step 2 Spliceosome:** SF3A1 is a critical component of the spliceosome complex, which is responsible for the catalytic step 2 of pre-mRNA splicing. This step involves the recognition and excision of introns, resulting in the formation of mature mRNA. 2. **Metabolism of RNA:** SF3A1 is involved in the metabolism of RNA, particularly in the recognition and splicing of introns. This process is essential for the production of functional mRNA, which is then translated into proteins. 3. **RNA 3'-Splice Site Recognition:** SF3A1 is responsible for the recognition of 3'-splice sites, which are essential for the correct splicing of pre-mRNA. 4. **RNA Cis-Splicing:** SF3A1 is involved in the cis-splicing of pre-mRNA, which involves the recognition and excision of introns. **Clinical Significance:** 1. **Immune System Disorders:** SF3A1 is significantly expressed in immune cells, and alterations in its expression have been linked to various immune system disorders, including autoimmune diseases and cancer. 2. **Splicing Defects:** Mutations in the SF3A1 gene have been associated with splicing defects, which can lead to the production of aberrant mRNA and proteins. 3. **Cancer Therapeutics:** SF3A1 is a potential target for cancer therapeutics, as alterations in its expression have been linked to cancer development and progression. 4. **Gene Therapy:** SF3A1 is a potential target for gene therapy, as its expression can be manipulated to correct splicing defects and treat various diseases. In conclusion, the SF3A1 gene plays a crucial role in RNA processing, particularly in the recognition and splicing of introns. Its significant expression in various cell types, including immune cells, highlights its importance in multiple physiological processes. Further research is needed to fully elucidate the clinical significance of the SF3A1 gene and its potential as a therapeutic target for various diseases.

Genular Protein ID: 2071110179

Symbol: SF3A1_HUMAN

Name: Splicing factor 3A subunit 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7489498

Title: Mammalian splicing factor SF3a120 represents a new member of the SURP family of proteins and is homologous to the essential splicing factor PRP21p of Saccharomyces cerevisiae.

PubMed ID: 7489498

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

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: 10882114

Title: Functional association of U2 snRNP with the ATP-independent spliceosomal complex E.

PubMed ID: 10882114

DOI: 10.1016/s1097-2765(00)80318-4

PubMed ID: 11533230

Title: Domains in human splicing factors SF3a60 and SF3a66 required for binding to SF3a120, assembly of the 17S U2 snRNP, and prespliceosome formation.

PubMed ID: 11533230

DOI: 10.1128/mcb.21.19.6406-6417.2001

PubMed ID: 11991638

Title: Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis.

PubMed ID: 11991638

DOI: 10.1017/s1355838202021088

PubMed ID: 15592455

Title: Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.

PubMed ID: 15592455

DOI: 10.1038/nbt1046

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 19367720

Title: Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment.

PubMed ID: 19367720

DOI: 10.1021/pr800500r

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 18318008

Title: Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.

PubMed ID: 18318008

DOI: 10.1002/pmic.200700884

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

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: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21349847

Title: Interaction domains and nuclear targeting signals in subunits of the U2 small nuclear ribonucleoprotein particle-associated splicing factor SF3a.

PubMed ID: 21349847

DOI: 10.1074/jbc.m110.201491

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25218447

Title: Uncovering global SUMOylation signaling networks in a site-specific manner.

PubMed ID: 25218447

DOI: 10.1038/nsmb.2890

PubMed ID: 25772364

Title: SUMO-2 orchestrates chromatin modifiers in response to DNA damage.

PubMed ID: 25772364

DOI: 10.1016/j.celrep.2015.02.033

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: 17098193

Title: Solution structures of the SURP domains and the subunit-assembly mechanism within the splicing factor SF3a complex in 17S U2 snRNP.

PubMed ID: 17098193

DOI: 10.1016/j.str.2006.09.009

PubMed ID: 29360106

Title: Structure of the human activated spliceosome in three conformational states.

PubMed ID: 29360106

DOI: 10.1038/cr.2018.14

PubMed ID: 30315277

Title: Structures of the human pre-catalytic spliceosome and its precursor spliceosome.

PubMed ID: 30315277

DOI: 10.1038/s41422-018-0094-7

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 32494006

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

PubMed ID: 32494006

DOI: 10.1038/s41586-020-2344-3

PubMed ID: 36797247

Title: Mechanisms of the RNA helicases DDX42 and DDX46 in human U2 snRNP assembly.

PubMed ID: 36797247

DOI: 10.1038/s41467-023-36489-x

Sequence Information:

  • Length: 793
  • Mass: 88886
  • Checksum: 7259F1EC4577305C
  • Sequence:
  • MPAGPVQAVP PPPPVPTEPK QPTEEEASSK EDSAPSKPVV GIIYPPPEVR NIVDKTASFV 
    ARNGPEFEAR IRQNEINNPK FNFLNPNDPY HAYYRHKVSE FKEGKAQEPS AAIPKVMQQQ 
    QQTTQQQLPQ KVQAQVIQET IVPKEPPPEF EFIADPPSIS AFDLDVVKLT AQFVARNGRQ 
    FLTQLMQKEQ RNYQFDFLRP QHSLFNYFTK LVEQYTKILI PPKGLFSKLK KEAENPREVL 
    DQVCYRVEWA KFQERERKKE EEEKEKERVA YAQIDWHDFV VVETVDFQPN EQGNFPPPTT 
    PEELGARILI QERYEKFGES EEVEMEVESD EEDDKQEKAE EPPSQLDQDT QVQDMDEGSD 
    DEEEGQKVPP PPETPMPPPL PPTPDQVIVR KDYDPKASKP LPPAPAPDEY LVSPITGEKI 
    PASKMQEHMR IGLLDPRWLE QRDRSIREKQ SDDEVYAPGL DIESSLKQLA ERRTDIFGVE 
    ETAIGKKIGE EEIQKPEEKV TWDGHSGSMA RTQQAAQANI TLQEQIEAIH KAKGLVPEDD 
    TKEKIGPSKP NEIPQQPPPP SSATNIPSSA PPITSVPRPP TMPPPVRTTV VSAVPVMPRP 
    PMASVVRLPP GSVIAPMPPI IHAPRINVVP MPPSAPPIMA PRPPPMIVPT AFVPAPPVAP 
    VPAPAPMPPV HPPPPMEDEP TSKKLKTEDS LMPEEEFLRR NKGPVSIKVQ VPNMQDKTEW 
    KLNGQVLVFT LPLTDQVSVI KVKIHEATGM PAGKQKLQYE GIFIKDSNSL AYYNMANGAV 
    IHLALKERGG RKK

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.