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Aliases for SF3A1 Gene

Aliases for SF3A1 Gene

  • Splicing Factor 3a Subunit 1 2 3 5
  • Splicing Factor 3a, Subunit 1, 120kDa 2 3
  • Splicing Factor 3a, Subunit 1, 120kD 2 3
  • Spliceosome-Associated Protein 114 3 4
  • SAP 114 3 4
  • SF3A120 3 4
  • SAP114 3 4
  • Pre-MRNA Splicing Factor SF3a (120 KDa Subunit) 3
  • Splicing Factor 3 Subunit 1 3
  • Pre-MRNA Processing 21 3
  • PRPF21 3
  • PRP21 3

External Ids for SF3A1 Gene

Previous GeneCards Identifiers for SF3A1 Gene

  • GC22M027424
  • GC22M029052
  • GC22M029054
  • GC22M030727
  • GC22M013689

Summaries for SF3A1 Gene

Entrez Gene Summary 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. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and RNA binding.

UniProtKB/Swiss-Prot for SF3A1 Gene

  • Subunit of the splicing factor SF3A 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.

Gene Wiki entry for SF3A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SF3A1 Gene

Genomics for SF3A1 Gene

Regulatory Elements for SF3A1 Gene

Enhancers for SF3A1 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 SF3A1 on UCSC Golden Path with GeneCards custom track

Promoters for SF3A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SF3A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SF3A1 Gene

Chromosome:
22
Start:
30,331,988 bp from pter
End:
30,356,947 bp from pter
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:
SF3A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SF3A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • E9PAW1

    Protein attributes for SF3A1 Gene

    Size:
    793 amino acids
    Molecular mass:
    88886 Da
    Quaternary structure:
    • Identified in the spliceosome C complex. Component of splicing factor SF3A which is composed of three subunits; SF3A3/SAP61, SF3A2/SAP62, SF3A1/SAP114. SF3A associates with the splicing factor SF3B and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP). Interacts with SF3A3.

    Three dimensional structures from OCA and Proteopedia for SF3A1 Gene

    Alternative splice isoforms for SF3A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SF3A1 Gene

Proteomics data for SF3A1 Gene at MOPED

Post-translational modifications for SF3A1 Gene

  • Ubiquitination at Lys 55, Lys 188, Lys 223, Lys 251, Lys 419, Lys 467, and Lys 708
  • Modification sites at PhosphoSitePlus

Other Protein References for SF3A1 Gene

No data available for DME Specific Peptides for SF3A1 Gene

Domains & Families for SF3A1 Gene

Protein Domains for SF3A1 Gene

Suggested Antigen Peptide Sequences for SF3A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15459

UniProtKB/Swiss-Prot:

SF3A1_HUMAN :
  • SURP motif 2 mediates direct binding to SF3A3.
  • Contains 2 SURP motif repeats.
Domain:
  • SURP motif 2 mediates direct binding to SF3A3.
  • Contains 1 ubiquitin-like domain.
Similarity:
  • Contains 2 SURP motif repeats.
genes like me logo Genes that share domains with SF3A1: view

No data available for Gene Families for SF3A1 Gene

Function for SF3A1 Gene

Molecular function for SF3A1 Gene

UniProtKB/Swiss-Prot Function:
Subunit of the splicing factor SF3A 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.
genes like me logo Genes that share phenotypes with SF3A1: view

Animal Model Products

miRNA for SF3A1 Gene

miRTarBase miRNAs that target SF3A1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SF3A1 Gene COMPARTMENTS Subcellular localization image for SF3A1 gene
Compartment Confidence
nucleus 5
cytosol 2
peroxisome 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for SF3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0071013 catalytic step 2 spliceosome IDA 11991638
genes like me logo Genes that share ontologies with SF3A1: view

Pathways & Interactions for SF3A1 Gene

genes like me logo Genes that share pathways with SF3A1: view

Pathways by source for SF3A1 Gene

1 KEGG pathway for SF3A1 Gene

Gene Ontology (GO) - Biological Process for SF3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
genes like me logo Genes that share ontologies with SF3A1: view

No data available for SIGNOR curated interactions for SF3A1 Gene

Drugs & Compounds for SF3A1 Gene

No Compound Related Data Available

Transcripts for SF3A1 Gene

Unigene Clusters for SF3A1 Gene

Splicing factor 3a, subunit 1, 120kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SF3A1 Gene

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
ECgene alternative splicing isoforms for
SF3A1

Expression for SF3A1 Gene

mRNA expression in normal human tissues for SF3A1 Gene

Protein differential expression in normal tissues from HIPED 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, PaxDb, MOPED, and MaxQB for SF3A1 Gene



SOURCE GeneReport for Unigene cluster for SF3A1 Gene Hs.406277

mRNA Expression by UniProt/SwissProt for SF3A1 Gene

Q15459-SF3A1_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with SF3A1: view

Protein tissue co-expression partners for SF3A1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SF3A1 Gene

Orthologs for SF3A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SF3A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SF3A1 35
  • 91.38 (n)
  • 98.87 (a)
SF3A1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SF3A1 35
  • 91.85 (n)
  • 98.61 (a)
SF3A1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sf3a1 35
  • 90.67 (n)
  • 98.58 (a)
Sf3a1 16
Sf3a1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SF3A1 35
  • 99.75 (n)
  • 99.75 (a)
SF3A1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sf3a1 35
  • 90.16 (n)
  • 98.45 (a)
oppossum
(Monodelphis domestica)
Mammalia SF3A1 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SF3A1 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves SF3A1 35
  • 81.07 (n)
  • 92.52 (a)
SF3A1 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SF3A1 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC734097 35
  • 77.54 (n)
  • 89.12 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7478 35
zebrafish
(Danio rerio)
Actinopterygii sf3a1 35
sf3a1 35
  • 79.04 (n)
  • 86.26 (a)
sf3a1 36
  • 85 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG16941 37
  • 61 (a)
CG16941 35
  • 61.67 (n)
  • 61.99 (a)
CG16941 36
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011328 35
  • 62.42 (n)
  • 60.81 (a)
worm
(Caenorhabditis elegans)
Secernentea prp-21 37
  • 43 (a)
prp-21 35
  • 52.81 (n)
  • 47.3 (a)
prp-21 36
  • 45 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR645W 35
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C03322g 35
  • 41.99 (n)
  • 29.44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP21 36
  • 29 (a)
OneToOne
PRP21 38
rice
(Oryza sativa)
Liliopsida Os.7264 35
bread mold
(Neurospora crassa)
Ascomycetes NCU01913 35
  • 51.65 (n)
  • 38.84 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sap114 35
  • 49.57 (n)
  • 45.05 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6505 36
  • 52 (a)
OneToOne
Species with no ortholog for SF3A1:
  • 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 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)

Paralogs for SF3A1 Gene

No data available for Paralogs for SF3A1 Gene

Variants for SF3A1 Gene

Sequence variations from dbSNP and Humsavar for SF3A1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
VAR_036290 A colorectal cancer sample
rs10376 -- 30,332,367(+) CCCAC(A/C)CCACC utr-variant-3-prime
rs12571 -- 30,334,610(-) GAGAG(A/G)CGGGA reference, missense
rs2108094 -- 30,333,749(+) CTTGG(G/T)ACATG utr-variant-3-prime
rs2229807 -- 30,337,122(-) CCTGT(G/T)CATCC reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for SF3A1 Gene

Variant ID Type Subtype PubMed ID
nsv829171 CNV Loss 20364138
nsv914970 CNV Loss 21882294
nsv834174 CNV Gain+Loss 17160897
nsv3593 CNV Loss 18451855
esv2724134 CNV Deletion 23290073
esv2724135 CNV Deletion 23290073
esv996703 CNV Deletion 20482838
esv1167139 CNV Deletion 17803354
esv2724136 CNV Deletion 23290073

Variation tolerance for SF3A1 Gene

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SF3A1 Gene

Disorders for SF3A1 Gene

Relevant External Links for SF3A1

Genetic Association Database (GAD)
SF3A1
Human Genome Epidemiology (HuGE) Navigator
SF3A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SF3A1

No disorders were found for SF3A1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SF3A1 Gene

Publications for SF3A1 Gene

  1. 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) Kraemer A. … Bilbe G. (RNA 1995) 2 3 4 23 67
  2. 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. … KrAomer A. (Mol. Cell. Biol. 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. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3
  5. ABCE1 is a highly conserved RNA silencing suppressor. (PMID: 25659154) KAorblane K. … Sarmiento C. (PLoS ONE 2015) 3

Products for SF3A1 Gene

Sources for SF3A1 Gene

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