Gene Gene information from NCBI Gene database.
Entrez ID 10291
Gene name Splicing factor 3a subunit 1
Gene symbol SF3A1
Synonyms (NCBI Gene)
PRP21PRPF21SAP114SF3A120
Chromosome 22
Chromosome location 22q12.2
Summary 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 splice
miRNA miRNA information provided by mirtarbase database.
549
miRTarBase ID miRNA Experiments Reference
MIRT027155 hsa-miR-103a-3p Sequencing 20371350
MIRT052569 hsa-let-7a-5p CLASH 23622248
MIRT052569 hsa-let-7a-5p CLASH 23622248
MIRT051375 hsa-let-7f-5p CLASH 23622248
MIRT042398 hsa-miR-450a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0000389 Process MRNA 3'-splice site recognition TAS 15647371
GO:0000398 Process MRNA splicing, via spliceosome IC 9731529, 11991638
GO:0000398 Process MRNA splicing, via spliceosome IDA 10882114, 29360106, 32494006, 36797247
GO:0000398 Process MRNA splicing, via spliceosome IEA
GO:0000398 Process MRNA splicing, via spliceosome NAS 21349847, 31744343
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605595 10765 ENSG00000099995
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15459
Protein name Splicing factor 3A subunit 1 (SF3a120) (Spliceosome-associated protein 114) (SAP 114)
Protein function Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:10882114, PubMed:11533230, PubMed:32494006). The 17S U2 SnRNP complex (1) directly participates i
PDB 1ZKH , 2DT6 , 2DT7 , 5Z56 , 5Z57 , 5Z58 , 6AH0 , 6AHD , 6FF7 , 6QX9 , 6Y53 , 6Y5Q , 7ABG , 7ABI , 7EVO , 7P08 , 7P0V , 7VH9 , 7VPX , 8CH6 , 8H6E , 8H6J , 8H6K , 8H6L , 8HK1 , 8I0P , 8I0R , 8I0S , 8I0T , 8ID2 , 8Q7N , 8QO9 , 8QOZ , 8QP8 , 8QP9 , 8QPA , 8QPB , 8QPE , 8QPK , 8QXD , 8QZS , 8R08 , 8R09 , 8R0A , 8R0B , 8RM5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01805 Surp 50 101 Surp module Family
PF01805 Surp 164 215 Surp module Family
PF12230 PRP21_like_P 232 472 Pre-mRNA splicing factor PRP21 like protein Family
PF00240 ubiquitin 709 788 Ubiquitin family Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:7489498}.
Sequence
MPAGPVQAVPPPPPVPTEPKQPTEEEASSKEDSAPSKPVVGIIYPPPEVRNIVDKTASFV
ARNGPEFEARIRQNEINNPKFNFLNPNDPYHAYYRHKVSEF
KEGKAQEPSAAIPKVMQQQ
QQTTQQQLPQKVQAQVIQETIVPKEPPPEFEFIADPPSISAFDLDVVKLTAQFVARNGRQ
FLTQLMQKEQRNYQFDFLRPQHSLFNYFTKLVEQY
TKILIPPKGLFSKLKKEAENPREVL
DQVCYRVEWAKFQERERKKEEEEKEKERVAYAQIDWHDFVVVETVDFQPNEQGNFPPPTT
PEELGARILIQERYEKFGESEEVEMEVESDEEDDKQEKAEEPPSQLDQDTQVQDMDEGSD
DEEEGQKVPPPPETPMPPPLPPTPDQVIVRKDYDPKASKPLPPAPAPDEYLVSPITGEKI
PASKMQEHMRIGLLDPRWLEQRDRSIREKQSDDEVYAPGLDIESSLKQLAER
RTDIFGVE
ETAIGKKIGEEEIQKPEEKVTWDGHSGSMARTQQAAQANITLQEQIEAIHKAKGLVPEDD
TKEKIGPSKPNEIPQQPPPPSSATNIPSSAPPITSVPRPPTMPPPVRTTVVSAVPVMPRP
PMASVVRLPPGSVIAPMPPIIHAPRINVVPMPPSAPPIMAPRPPPMIVPTAFVPAPPVAP
VPAPAPMPPVHPPPPMEDEPTSKKLKTEDSLMPEEEFLRRNKGPVSIKVQVPNMQDKTEW
KLNGQVLVFTLPLTDQVSVIKVKIHEATGMPAGKQKLQYEGIFIKDSNSLAYYNMANGAV
IHLALKER
GGRKK
Sequence length 793
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome   mRNA Splicing - Major Pathway
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Malignant lymphoma, large B-cell, diffuse Pathogenic rs2518170070 RCV003449009
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Neoplasm Metastasis Associate 31900123
Neoplasms Associate 26498691
Pancreatic Neoplasms Associate 26498691
Pancreatic Neoplasms Inhibit 26498691