Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10291
Gene name Gene Name - the full gene name approved by the HGNC.
Splicing factor 3a subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SF3A1
Synonyms (NCBI Gene) Gene synonyms aliases
PRP21, PRPF21, SAP114, SF3A120
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.2
Summary Summary of gene provided in NCBI Entrez 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 splice
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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
GO:0000398 Process MRNA splicing, via spliceosome TAS
GO:0003723 Function RNA binding HDA 22658674, 22681889
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605595 10765 ENSG00000099995
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Associations from Text Mining
Disease Name Relationship Type References
Neoplasm Metastasis Associate 31900123
Neoplasms Associate 26498691
Pancreatic Neoplasms Associate 26498691
Pancreatic Neoplasms Inhibit 26498691