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Aliases for SF3A1 Gene

Aliases for SF3A1 Gene

  • Splicing Factor 3a, Subunit 1, 120kDa 2 3
  • SF3A120 3 4 6
  • SAP114 3 4 6
  • Splicing Factor 3a, Subunit 1, 120kD 2 3
  • Spliceosome-Associated Protein 114 3 4
  • SAP 114 3 4
  • PRP21 3 6
  • Pre-MRNA Splicing Factor SF3a (120 KDa Subunit) 3
  • Splicing Factor 3A Subunit 1 3
  • Splicing Factor 3 Subunit 1 3
  • Pre-MRNA Processing 21 3
  • PRPF21 3

External Ids for SF3A1 Gene

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, 120kDa) is a Protein Coding gene. Among its related pathways are Gene Expression and Spliceosome. GO annotations related to this gene include 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

Genomic Location for SF3A1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SF3A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SF3A1 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys55, Lys80, Lys188, Lys223, Lys251, Lys419, Lys467, and Lys708

Other Protein References for SF3A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SF3A1 Gene

Domains for SF3A1 Gene

Protein Domains for SF3A1 Gene

UniProtKB/Swiss-Prot:

SF3A1_HUMAN
Domain:
  • SURP motif 2 mediates direct binding to SF3A3:
    • Q15459
  • Contains 1 ubiquitin-like domain.:
    • Q15459
Similarity:
  • Contains 2 SURP motif repeats.:
    • Q15459
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

Gene Ontology (GO) - Molecular Function for SF3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 10882114
GO:0005515 protein binding IPI 10976766
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with SF3A1: view
genes like me logo Genes that share phenotypes with SF3A1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IDA 9731529
GO:0005684 U2-type spliceosomal complex IDA 10882114
GO:0005686 U2 snRNP IBA --
genes like me logo Genes that share ontologies with SF3A1: view

Pathways 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:0000381 regulation of alternative mRNA splicing, via spliceosome IBA --
GO:0000389 mRNA 3-splice site recognition TAS 15647371
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006396 RNA processing --
GO:0006397 mRNA processing IMP 15647371
genes like me logo Genes that share ontologies with SF3A1: view

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with SF3A1: view

Orthologs for SF3A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SF3A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SF3A1 36
  • 99.75 (n)
  • 99.75 (a)
SF3A1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SF3A1 36
  • 91.38 (n)
  • 98.87 (a)
SF3A1 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SF3A1 36
  • 91.85 (n)
  • 98.61 (a)
SF3A1 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sf3a1 36
  • 90.67 (n)
  • 98.58 (a)
Sf3a1 16
Sf3a1 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SF3A1 37
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SF3A1 37
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sf3a1 36
  • 90.16 (n)
  • 98.45 (a)
chicken
(Gallus gallus)
Aves SF3A1 36
  • 81.07 (n)
  • 92.52 (a)
SF3A1 37
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SF3A1 37
  • 88 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7478 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC734097 36
  • 77.54 (n)
  • 89.12 (a)
zebrafish
(Danio rerio)
Actinopterygii sf3a1 36
sf3a1 36
  • 79.04 (n)
  • 86.26 (a)
sf3a1 37
  • 85 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011328 36
  • 62.42 (n)
  • 60.81 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG16941 36
  • 61.67 (n)
  • 61.99 (a)
CG16941 37
  • 54 (a)
OneToOne
CG16941 38
  • 61 (a)
worm
(Caenorhabditis elegans)
Secernentea prp-21 36
  • 52.81 (n)
  • 47.3 (a)
prp-21 37
  • 45 (a)
OneToOne
prp-21 38
  • 43 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR645W 36
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP21 37
  • 29 (a)
OneToOne
PRP21 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C03322g 36
  • 41.99 (n)
  • 29.44 (a)
rice
(Oryza sativa)
Liliopsida Os.7264 36
bread mold
(Neurospora crassa)
Ascomycetes NCU01913 36
  • 51.65 (n)
  • 38.84 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sap114 36
  • 49.57 (n)
  • 45.05 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6505 37
  • 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 MAF
rs10376 -- 30,332,367(+) CCCAC(A/C)CCACC utr-variant-3-prime
rs12571 -- 30,334,610(-) GAGAG(A/G)CGGGA missense, reference
rs737949 -- 30,344,795(+) ATTAA(A/G)CTGGG intron-variant
rs740220 -- 30,338,613(-) TTGTG(A/G)AGGAG intron-variant
rs740221 -- 30,346,634(+) GCCCA(G/T)CCCTC intron-variant

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

Relevant External Links for SF3A1 Gene

HapMap Linkage Disequilibrium report
SF3A1

Disorders for SF3A1 Gene

Relevant External Links for SF3A1

Genetic Association Database (GAD)
SF3A1
Human Genome Epidemiology (HuGE) Navigator
SF3A1
genes like me logo Genes that share disorders with SF3A1: view

No data available for UniProtKB/Swiss-Prot 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
  2. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PMID: 11991638) Jurica M.S. … Moore M.J. (RNA 2002) 3 4
  5. 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

Products for SF3A1 Gene

  • Addgene plasmids for SF3A1

Sources for SF3A1 Gene

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