Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23451
Gene name Gene Name - the full gene name approved by the HGNC.
Splicing factor 3b subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SF3B1
Synonyms (NCBI Gene) Gene synonyms aliases
Hsh155, MDS, PRP10, PRPF10, SAP155, SF3b155
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MDS
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-m
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs374250186 T>A,C,G Likely-pathogenic Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs377023736 C>A,G Not-provided, likely-pathogenic, pathogenic Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs559063155 T>A,C,G Likely-pathogenic Genic downstream transcript variant, missense variant, coding sequence variant, stop gained, non coding transcript variant
rs754688962 T>C,G Likely-pathogenic Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs755415626 C>T Likely-pathogenic Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT052156 hsa-let-7b-5p CLASH 23622248
MIRT042496 hsa-miR-423-3p CLASH 23622248
MIRT041092 hsa-miR-504-5p CLASH 23622248
MIRT040227 hsa-miR-615-3p CLASH 23622248
MIRT052776 hsa-miR-1260b CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
SF1 Unknown 16376933
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000245 Process Spliceosomal complex assembly IBA 21873635
GO:0000375 Process RNA splicing, via transesterification reactions NAS 9585501
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0000398 Process MRNA splicing, via spliceosome IDA 11252167, 28781166, 29360106
GO:0000398 Process MRNA splicing, via spliceosome NAS 9585501
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605590 10768 ENSG00000115524
Protein
UniProt ID O75533
Protein name Splicing factor 3B subunit 1 (Pre-mRNA-splicing factor SF3b 155 kDa subunit) (SF3b155) (Spliceosome-associated protein 155) (SAP 155)
Protein function Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:27720643, PubMed:32494006, PubMed:34822310). The 17S U2 SnRNP complex (1) direct
PDB 2F9D , 2F9J , 2FHO , 2PEH , 3LQV , 4OZ1 , 5IFE , 5O9Z , 5Z56 , 5Z57 , 5Z58 , 5ZYA , 6AH0 , 6AHD , 6EN4 , 6FF4 , 6FF7 , 6N3E , 6QX9 , 6Y50 , 6Y53 , 6Y5Q , 7ABG , 7ABH , 7ABI , 7B0I , 7B91 , 7B92 , 7B9C , 7DVQ , 7EVN , 7EVO , 7OMF , 7ONB , 7OPI , 7Q3L , 7Q4O , 7Q4P , 7QTT , 7SN6 , 7VPX , 8CH6 , 8H6E , 8H6J , 8H6K , 8H6L , 8HK1 , 8I0P , 8I0R , 8I0S , 8I0T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08920 SF3b1 329 452 Splicing factor 3B subunit 1 Domain
Sequence
MAKIAKTHEDIEAQIREIQGKKAALDEAQGVGLDSTGYYDQEIYGGSDSRFAGYVTSIAA
TELEDDDDDYSSSTSLLGQKKPGYHAPVALLNDIPQSTEQYDPFAEHRPPKIADREDEYK
KHRRTMIISPERLDPFADGGKTPDPKMNARTYMDVMREQHLTKEEREIRQQLAEKAKAGE
LKVVNGAAASQPPSKRKRRWDQTADQTPGATPKKLSSWDQAETPGHTPSLRWDETPGRAK
GSETPGATPGSKIWDPTPSHTPAGAATPGRGDTPGHATPGHGGATSSARKNRWDETPKTE
RDTPGHGSGWAETPRTDRGGDSIGETPTPGASKRKSRWDETPASQMGGSTPVLTPGKTPI
GTPAMNMATPTPGHIMSMTPEQLQAWRWEREIDERNRPLSDEELDAMFPEGYKVLPPPAG
YVPIRTPARKLTATPTPLGGMTGFHMQTEDRT
MKSVNDQPSGNLPFLKPDDIQYFDKLLV
DVDESTLSPEEQKERKIMKLLLKIKNGTPPMRKAALRQITDKAREFGAGPLFNQILPLLM
SPTLEDQERHLLVKVIDRILYKLDDLVRPYVHKILVVIEPLLIDEDYYARVEGREIISNL
AKAAGLATMISTMRPDIDNMDEYVRNTTARAFAVVASALGIPSLLPFLKAVCKSKKSWQA
RHTGIKIVQQIAILMGCAILPHLRSLVEIIEHGLVDEQQKVRTISALAIAALAEAATPYG
IESFDSVLKPLWKGIRQHRGKGLAAFLKAIGYLIPLMDAEYANYYTREVMLILIREFQSP
DEEMKKIVLKVVKQCCGTDGVEANYIKTEILPPFFKHFWQHRMALDRRNYRQLVDTTVEL
ANKVGAAEIISRIVDDLKDEAEQYRKMVMETIEKIMGNLGAADIDHKLEEQLIDGILYAF
QEQTTEDSVMLNGFGTVVNALGKRVKPYLPQICGTVLWRLNNKSAKVRQQAADLISRTAV
VMKTCQEEKLMGHLGVVLYEYLGEEYPEVLGSILGALKAIVNVIGMHKMTPPIKDLLPRL
TPILKNRHEKVQENCIDLVGRIADRGAEYVSAREWMRICFELLELLKAHKKAIRRATVNT
FGYIAKAIGPHDVLATLLNNLKVQERQNRVCTTVAIAIVAETCSPFTVLPALMNEYRVPE
LNVQNGVLKSLSFLFEYIGEMGKDYIYAVTPLLEDALMDRDLVHRQTASAVVQHMSLGVY
GFGCEDSLNHLLNYVWPNVFETSPHVIQAVMGALEGLRVAIGPCRMLQYCLQGLFHPARK
VRDVYWKIYNSIYIGSQDALIAHYPRIYNDDKNTYIRYELDYIL
Sequence length 1304
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Spliceosome   B-WICH complex positively regulates rRNA expression
mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Adenocarcinoma Adenoid Cystic Carcinoma rs121913530, rs886039394, rs121913474 26619011
Anemia Normocytic anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Cataract CATARACT, MARNER TYPE rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 23634996, 23395771
Unknown
Disease term Disease name Evidence References Source
Congestive heart failure Congestive heart failure ClinVar
Mental Depression Mental Depression GWAS
Atrial Fibrillation Atrial Fibrillation GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33057152
Anemia Associate 29433555, 32243522, 34930825
Anemia Aplastic Associate 34587721
Anemia Hemolytic Associate 26255870
Anemia Refractory Associate 22096241, 23070040, 23300182, 24723457, 25428262, 25955609, 25957392, 26874914, 28545085, 29433555
Anemia Refractory with Excess of Blasts Associate 22096241
Anemia Sideroblastic Associate 34861039, 34930825
Anemia Sideroblastic Pyridoxine Refractory Autosomal Recessive Associate 25957392
Aneuploidy Associate 37463047
Ataxia Telangiectasia Associate 30726782, 32573691