Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a subunit of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer is a component of the mature U2 small nuclear ribonucleoprotein particle (snRNP). U2 small nuclear ribonucleoproteins play a critical role in spliceosome assembly and pre-mRNA splicing. [provided by RefSeq, Aug 2014] See more...
Aliases for SF3A1 Gene
Aliases for SF3A1 Gene
External Ids for SF3A1 Gene
- HGNC: 10765
- Entrez Gene: 10291
- Ensembl: ENSG00000099995
- OMIM: 605595
- UniProtKB: Q15459
Previous GeneCards Identifiers for SF3A1 Gene
- GC22M027424
- GC22M029052
- GC22M029054
- GC22M030727
- GC22M013689
Summaries for SF3A1 Gene
-
This gene encodes a subunit of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer is a component of the mature U2 small nuclear ribonucleoprotein particle (snRNP). U2 small nuclear ribonucleoproteins play a critical role in spliceosome assembly and pre-mRNA splicing. [provided by RefSeq, Aug 2014]
GeneCards Summary for SF3A1 Gene
SF3A1 (Splicing Factor 3a Subunit 1) is a Protein Coding gene. Diseases associated with SF3A1 include Retinitis Pigmentosa 61 and Colorectal Cancer. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include RNA binding.
UniProtKB/Swiss-Prot Summary for SF3A1 Gene
-
Involved in pre-mRNA splicing as a component of the splicing factor SF3A complex that contributes to the assembly of the 17S U2 snRNP, and the subsequent assembly of the pre-spliceosome 'E' complex and the pre-catalytic spliceosome 'A' complex (PubMed:10882114, PubMed:11533230). Involved in pre-mRNA splicing as a component of pre-catalytic spliceosome 'B' complexes (PubMed:29360106, PubMed:30315277).
Additional gene information for SF3A1 Gene
- HGNC(10765)
- Entrez Gene(10291)
- Ensembl(ENSG00000099995)
- OMIM(605595)
- UniProtKB(Q15459)
- Open Targets Platform(ENSG00000099995)
- Monarch Initiative
- Search for SF3A1 at DataMed
- Search for SF3A1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SF3A1 Gene
Genomics for SF3A1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SF3A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SF3A1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SF3A1
- Top Transcription factor binding sites by QIAGEN in the SF3A1 gene promoter:
-
- AP-2alpha
- AP-2alphaA
- E47
- HNF-3beta
- Nkx2-5
- Olf-1
- p53
- POU2F1
- POU2F1a
Genomic Locations for SF3A1 Gene
Genomic Locations for SF3A1 Gene
- chr22:30,331,988-30,356,919
- (GRCh38/hg38)
- Size:
- 24,932 bases
- Orientation:
- Minus strand
- chr22:30,727,977-30,752,936
- (GRCh37/hg19)
- Size:
- 24,960 bases
- Orientation:
- Minus strand
Genomic View for SF3A1 Gene
Genes around SF3A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q12.2 by HGNC
- 22q12.2 by Entrez Gene
- 22q12.2 by Ensembl
SF3A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SF3A1 Gene
Proteins for SF3A1 Gene
-
Protein details for SF3A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q15459-SF3A1_HUMAN
- Recommended name:
- Splicing factor 3A subunit 1
- Protein Accession:
- Q15459
- E9PAW1
Protein attributes for SF3A1 Gene
- Size:
- 793 amino acids
- Molecular mass:
- 88886 Da
- Quaternary structure:
-
- Component of splicing factor SF3A which is composed of three subunits; SF3A3/SAP61, SF3A2/SAP62 and SF3A1/SAP114 (PubMed:10882114, PubMed:11533230, PubMed:21349847). SF3A1 functions as scaffold that interacts directly with both SF3A2 and SF3A3 (PubMed:11533230, PubMed:21349847, PubMed:17098193). SF3A associates with the splicing factor SF3B and a 12S RNA unit to form the mature 17S U2 small nuclear ribonucleoprotein complex (17S U2 snRNP) (PubMed:10882114, PubMed:11533230). Identified in the spliceosome 'E' complex, a precursor of the spliceosome 'A' complex (PubMed:10882114). Identified in the spliceosome 'A' and 'B' complexes (PubMed:10882114, PubMed:29360106, PubMed:30315277). Identified in the spliceosome 'C' complex (PubMed:11991638).
Three dimensional structures from OCA and Proteopedia for SF3A1 Gene
Protein Expression for SF3A1 Gene
Post-translational modifications for SF3A1 Gene
Other Protein References for SF3A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-SF3A1 monoclonal antibody
- Novus Biologicals Antibodies for SF3A1
-
Abcam antibodies for SF3A1
- Invitrogen Antibodies for SF3A1 (AFLGC-Sf3a1)
-
Boster Bio Antibodies for SF3A1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SF3A1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for SF3A1
- Origene Custom Protein Services for SF3A1
-
Abcam proteins for SF3A1
No data available for DME Specific Peptides for SF3A1 Gene
Domains & Families for SF3A1 Gene
Gene Families for SF3A1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for SF3A1 Gene
- InterPro:
- Blocks:
-
- Ubiquitin domain
- SWAP/Surp
- ProtoNet:
Suggested Antigen Peptide Sequences for SF3A1 Gene
- GenScript: Design optimal peptide antigens:
-
- Spliceosome-associated protein 114 (SF3A1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q15459- Domain:
-
- SURP motif 2 mediates direct binding to SF3A3.
Function for SF3A1 Gene
Molecular function for SF3A1 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in pre-mRNA splicing as a component of the splicing factor SF3A complex that contributes to the assembly of the 17S U2 snRNP, and the subsequent assembly of the pre-spliceosome 'E' complex and the pre-catalytic spliceosome 'A' complex (PubMed:10882114, PubMed:11533230). Involved in pre-mRNA splicing as a component of pre-catalytic spliceosome 'B' complexes (PubMed:29360106, PubMed:30315277).
Phenotypes From GWAS Catalog for SF3A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | IEA,IDA | 10882114 |
| GO:0005515 | protein binding | IPI | 10976766 |
Phenotypes for SF3A1 Gene
- MGI mutant phenotypes for SF3A1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SF3A1:
-
- no effect
- Decreased viability
- Increased cell death HMECs cells
- Synthetic lethal with Ras
- Increased gamma-H2AX phosphorylation
- Decreased Salmonella enterica Typhimurium invasion
- shRNA abundance <= 25%
- Decreased influenza A/WSN/33 replication
- Decreased influenza A H1N1 (A/WSN/33) virus numbers
- Decreased cell number
- Inconclusive
- Decreased homologous recombination repair frequency
- Decreased viability in ovarian lineage
- Increased shRNA abundance (Z-score > 2)
- Cell division defect
- Decreased POU5F1-GFP protein expression
- Increased cell death in HCC-1954 cells
- Decreased shRNA abundance (Z-score < -2)
- Decreased OCT4 protein expression
- Decreased NANOG protein expression
- Abundance of large cells with protrusions and bright nuclei
- Downregulation of RLR pathway after Sendai virus (SeV) infection
- Increased G2M DNA content
- Increased cell death in DLD-1 cells
- Decreased viability (cell death)
- Decreased HIV-1 infection
- Low eccentricity cells
- Many micronuclei (grape)
- Metaphase cells
- Increased telomere dysfunction-induced foci (TIF) formation
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SF3A1 - Select products 50% OFF >
- * SF3A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SF3A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SF3A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SF3A1
miRNA for SF3A1 Gene
- miRTarBase miRNAs that target SF3A1
-
- hsa-miR-103a-3p (MIRT027155)
- hsa-miR-744-5p (MIRT037522)
- hsa-miR-615-3p (MIRT039987)
- hsa-miR-193b-3p (MIRT041239)
- hsa-miR-450a-5p (MIRT042398)
- hsa-let-7f-5p (MIRT051375)
- hsa-let-7a-5p (MIRT052569)
- hsa-miR-524-5p (MIRT301015)
- hsa-miR-520d-5p (MIRT301016)
- hsa-miR-5096 (MIRT352537)
- hsa-miR-32-3p (MIRT484729)
- hsa-miR-4668-3p (MIRT484730)
- hsa-miR-548as-3p (MIRT484731)
- hsa-miR-548c-3p (MIRT484733)
- mmu-miR-532-5p (MIRT603393)
- mmu-miR-511-5p (MIRT603394)
- mmu-miR-338-3p (MIRT603395)
- mmu-miR-709 (MIRT603396)
- hsa-miR-744-3p (MIRT627070)
- hsa-miR-106a-3p (MIRT627071)
- hsa-miR-4423-5p (MIRT627072)
- hsa-miR-6501-5p (MIRT627073)
- hsa-miR-3907 (MIRT627074)
- hsa-miR-4430 (MIRT627075)
- hsa-miR-3652 (MIRT627076)
- hsa-miR-122-5p (MIRT627077)
- hsa-miR-504-3p (MIRT627078)
- hsa-miR-3135b (MIRT627079)
- hsa-miR-6787-3p (MIRT627080)
- hsa-miR-1285-5p (MIRT627081)
- hsa-miR-454-3p (MIRT627082)
- hsa-miR-4295 (MIRT627083)
- hsa-miR-3666 (MIRT627084)
- hsa-miR-301b-3p (MIRT627085)
- hsa-miR-301a-3p (MIRT627086)
- hsa-miR-130b-3p (MIRT627087)
- hsa-miR-130a-3p (MIRT627088)
- hsa-miR-3680-3p (MIRT641749)
- hsa-miR-557 (MIRT641750)
- hsa-miR-507 (MIRT641751)
- hsa-miR-450b-5p (MIRT641752)
- hsa-miR-6809-3p (MIRT641753)
- hsa-miR-4753-3p (MIRT641754)
- hsa-miR-19b-2-5p (MIRT641755)
- hsa-miR-19b-1-5p (MIRT641756)
- hsa-miR-19a-5p (MIRT641757)
- hsa-miR-2052 (MIRT641758)
- hsa-miR-8064 (MIRT641759)
- hsa-miR-627-3p (MIRT641760)
- hsa-miR-130b-5p (MIRT641761)
- hsa-miR-7703 (MIRT665152)
- hsa-miR-6720-5p (MIRT665153)
- hsa-miR-6512-3p (MIRT665154)
- hsa-miR-6729-5p (MIRT665155)
- hsa-miR-4649-5p (MIRT665156)
- hsa-miR-566 (MIRT665157)
- hsa-miR-6789-3p (MIRT665158)
- hsa-miR-661 (MIRT665159)
- hsa-miR-4252 (MIRT665160)
- hsa-miR-4486 (MIRT665161)
- hsa-miR-4793-3p (MIRT665162)
- hsa-miR-766-3p (MIRT665163)
- hsa-miR-939-3p (MIRT665164)
- hsa-miR-6849-3p (MIRT665165)
- hsa-miR-652-3p (MIRT665166)
- hsa-miR-508-5p (MIRT665167)
- hsa-miR-1276 (MIRT665168)
- hsa-miR-4696 (MIRT683169)
- hsa-miR-4522 (MIRT683170)
- hsa-miR-451b (MIRT683171)
- hsa-miR-4432 (MIRT683172)
- hsa-miR-1267 (MIRT783269)
- hsa-miR-129-5p (MIRT783592)
- hsa-miR-3194-3p (MIRT784794)
- hsa-miR-3672 (MIRT785156)
- hsa-miR-367-5p (MIRT785204)
- hsa-miR-4294 (MIRT785638)
- hsa-miR-431-5p (MIRT785738)
- hsa-miR-5691 (MIRT787770)
- hsa-miR-5698 (MIRT787819)
- hsa-miR-6805-3p (MIRT788849)
- hsa-miR-6864-3p (MIRT789161)
- hsa-miR-8055 (MIRT789726)
- hsa-miR-924 (MIRT789950)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SF3A1
- Browse OriGene Inhibitory RNA Products For SF3A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SF3A1
Clone Products
- Applied Biological Materials (abm): Clones for SF3A1 - Select products 50% OFF >
- * SF3A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SF3A1
- Addgene plasmids for SF3A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SF3A1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SF3A1 Gene
Localization for SF3A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SF3A1 Gene
- Nucleus. Nucleus speckle.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Nuclear speckles (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 10882114 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005681 | spliceosomal complex | IDA | 9731529 |
| GO:0005684 | U2-type spliceosomal complex | IDA | 10882114 |
| GO:0005686 | U2 snRNP | IDA | 10882114 |
Pathways & Interactions for SF3A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | mRNA Splicing - Major Pathway |
.79
|
.47
.41
|
| 2 | Gene Expression |
.48
|
|
Pathways by source for SF3A1 Gene
1 BioSystems pathway for SF3A1 Gene
4 Reactome pathways for SF3A1 Gene
1 KEGG pathway for SF3A1 Gene
Interacting Proteins for SF3A1 Gene
Selected Interacting proteins:
Q15459-SF3A1_HUMAN
ENSP00000215793
for SF3A1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SF3A1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000389 | mRNA 3'-splice site recognition | TAS | 15647371 |
| GO:0000398 | mRNA splicing, via spliceosome | TAS | -- |
| GO:0006396 | RNA processing | IEA | -- |
| GO:0006397 | mRNA processing | IMP | 15647371 |
| GO:0008380 | RNA splicing | IEA | -- |
No data available for SIGNOR curated interactions for SF3A1 Gene
Transcripts for SF3A1 Gene
mRNA/cDNA for SF3A1 Gene
- 2 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000215793 5090 nts (view in UCSC)
- ENST00000411423 548 nts (view in UCSC)
- ENST00000444440 777 nts (view in UCSC)
- ENST00000447376 418 nts (view in UCSC)
- ENST00000463818 583 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SF3A1 - Select products 50% OFF >
- * SF3A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SF3A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SF3A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SF3A1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SF3A1
- Browse OriGene Inhibitory RNA Products For SF3A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SF3A1
Clone Products
- Applied Biological Materials (abm): Clones for SF3A1 - Select products 50% OFF >
- * SF3A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SF3A1
- Addgene plasmids for SF3A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SF3A1
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: |
| ExUns: | 17 | ^ | 18 |
|---|---|---|---|
| SP1: | |||
| SP2: | |||
| SP3: | |||
| SP4: | |||
| SP5: | |||
| SP6: | |||
| SP7: | |||
| SP8: | |||
| SP9: | |||
| SP10: |
Relevant External Links for SF3A1 Gene
- GeneLoc Exon Structure for
- SF3A1
Expression for SF3A1 Gene
This gene is overexpressed in Lymph node (14.5) and Peripheral blood mononuclear cells (8.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SF3A1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SF3A1
SOURCE GeneReport for Unigene cluster for SF3A1 Gene:
Hs.406277mRNA Expression by UniProt/SwissProt for SF3A1 Gene:
Q15459-SF3A1_HUMAN
Tissue specificity:
Ubiquitously expressed.
Evidence on tissue expression from TISSUES for SF3A1 Gene
- Nervous system(4.8)
- Liver(4.6)
- Blood(4.6)
- Skin(3.6)
- Kidney(3.5)
- Lung(3.3)
- Bone marrow(3.2)
- Intestine(3.1)
- Muscle(3.1)
- Heart(3)
- Lymph node(2.9)
- Eye(2.9)
- Pancreas(2.9)
- Thyroid gland(2.9)
- Adrenal gland(2.6)
- Gall bladder(2.6)
- Stomach(2.6)
- Spleen(2.3)
Primer Products
-
OriGene qPCR primer pairs for SF3A1
-
OriGene qPCR primer pairs and template standards for SF3A1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SF3A1 Gene
Orthologs for SF3A1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SF3A1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SF3A1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SF3A1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SF3A1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Sf3a1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Sf3a1 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SF3A1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SF3A1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SF3A1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC734097 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7478 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | sf3a1 30 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011328 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG16941 30 31 32 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | prp-21 30 31 32 |
|
OneToOne | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C03322g 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PRP21 31 33 |
|
OneToOne | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR645W 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os.7264 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6505 31 |
|
OneToOne | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU01913 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | sap114 30 |
|
- Species where no ortholog for SF3A1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- 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)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for SF3A1 Gene
- ENSEMBL:
- Gene Tree for SF3A1 (if available)
- TreeFam:
- Gene Tree for SF3A1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SF3A1: view image
Paralogs for SF3A1 Gene
No data available for Paralogs for SF3A1 Gene
Variants for SF3A1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SF3A1 Gene
| SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 777682 | Benign: not provided | 30,344,925(-) | C/G | INTRON_VARIANT | |
| rs765594577 | A colorectal cancer sample | p.Arg511Trp |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1167139 | CNV | deletion | 17803354 |
| esv2724134 | CNV | deletion | 23290073 |
| esv2724135 | CNV | deletion | 23290073 |
| esv2724136 | CNV | deletion | 23290073 |
| esv3234984 | CNV | deletion | 24192839 |
| esv3558050 | CNV | deletion | 23714750 |
| esv996703 | CNV | deletion | 20482838 |
| nsv1064350 | CNV | gain | 25217958 |
| nsv1066179 | CNV | gain | 25217958 |
| nsv1110864 | OTHER | inversion | 24896259 |
| nsv3593 | CNV | deletion | 18451855 |
| nsv829171 | CNV | loss | 20364138 |
| nsv834174 | CNV | gain+loss | 17160897 |
Residual Variation Intolerance Score:
14.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.58;
30.51% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SF3A1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- SF3A1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SF3A1 Gene
Disorders for SF3A1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| retinitis pigmentosa 61 |
|
|
| colorectal cancer |
|
|
Search SF3A1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SF3A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for SF3A1 Gene
Publications for SF3A1 Gene
- 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. (PMID: 7489498) Krämer A … Bilbe G (RNA (New York, N.Y.) 1995) 2 3 4 23
- Domains in human splicing factors SF3a60 and SF3a66 required for binding to SF3a120, assembly of the 17S U2 snRNP, and prespliceosome formation. (PMID: 11533230) Nesic D … Krämer A (Molecular and cellular biology 2001) 3 4 23
- Structure of the human activated spliceosome in three conformational states. (PMID: 29360106) Zhang X … Shi Y (Cell research 2018) 3 4
- Interaction domains and nuclear targeting signals in subunits of the U2 small nuclear ribonucleoprotein particle-associated splicing factor SF3a. (PMID: 21349847) Huang CJ … Krämer A (The Journal of biological chemistry 2011) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
ExternalLinks
Products for SF3A1 Gene
- Custom Antibody ServicesOriGene Antibodies for SF3A1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for SF3A1
- Origene Custom Protein Services for SF3A1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SF3A1
- Browse OriGene Inhibitory RNA Products For SF3A1
- OriGene qPCR primer pairs for SF3A1
- OriGene qPCR primer pairs and template standards for SF3A1
- OriGene CRISPR knockouts for SF3A1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SF3A1
- Sino Biological Human cDNA Clone for SF3A1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SF3A1
- Novus Biologicals proteins and lysates for SF3A1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for SF3A1
- Abcam proteins for SF3A1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for SF3A1 (AFLGC-Sf3a1)
- VectorBuilder Custom and pre-made DNA vectors for SF3A1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SF3A1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SF3A1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SF3A1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SF3A1
- Addgene plasmids for SF3A1
- antibodies-online: Show 19 available SF3A1 Antibodies ranked by validation data
- Compare Top SF3A1 Antibodies
- antibodies-online: Search results for available SF3A1 related products ranked by validation data
- antibodies-online: Show 5 available SF3A1 Proteins ranked by validation data
- Compare Top SF3A1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for SF3A1
- Search Santa Cruz Biotechnology (SCBT) for SF3A1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SF3A1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SF3A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SF3A1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SF3A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SF3A1
- Boster Bio Antibodies for SF3A1
- Browse Boster Bio ELISA Kits
Sources for SF3A1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB