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-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splici... See more...

Aliases for SF3B1 Gene

Aliases for SF3B1 Gene

  • Splicing Factor 3b Subunit 1 2 3 5
  • Splicing Factor 3b, Subunit 1, 155kDa 2 3
  • Spliceosome-Associated Protein 155 3 4
  • Splicing Factor 3B Subunit 1 3 4
  • SF3b155 3 4
  • SAP155 3 4
  • Pre-MRNA Splicing Factor SF3b, 155 KDa Subunit 3
  • Pre-MRNA-Splicing Factor SF3b 155 KDa Subunit 4
  • Splicing Factor 3b, Subunit 1, 155kD 2
  • Pre-MRNA Processing 10 3
  • SAP 155 4
  • Hsh155 3
  • PRPF10 3
  • PRP10 3
  • MDS 3

External Ids for SF3B1 Gene

Previous GeneCards Identifiers for SF3B1 Gene

  • GC02M196445
  • GC02M196969
  • GC02M198219
  • GC02M198459
  • GC02M198082
  • GC02M197964
  • GC02M198256
  • GC02M190109

Summaries for SF3B1 Gene

Entrez Gene Summary for SF3B1 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-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

CIViC Summary for SF3B1 Gene

  • SF3B1 mutations have been described in several myeloid malignancies, predominantly myelodysplastic syndromes (MDS), as well as other hematologic malignancies, breast cancer, and uveal melanoma (UM). SF3B1 is one of several genes involved in RNA splicing that has been identified as recurrently mutated in MDS and other malignanices. The mutations affecting SF3B1 are typically heterozygous, point mutations suspected to be functionally deleterious with R625 and K700E described as a major mutation hotspots. MDS patients with SF3B1 mutations have been reported to have better overall and event-free survival than their wildtype counterparts. Additionally, these mutations are highly associated with subtypes of MDS characterized by ringed sideroblasts (refractory anemia with ringed sideroblasts and refractory cytopenia with multilineage dysplasia and ring sideroblasts). In UM patients, SF3B1 mutations have been reported to be associated with chromosome 3 disomy, which defines a subgroup with low risk of metastasis.

GeneCards Summary for SF3B1 Gene

SF3B1 (Splicing Factor 3b Subunit 1) is a Protein Coding gene. Diseases associated with SF3B1 include Myelodysplastic Syndrome and Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2. Among its related pathways are Gene Expression and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include binding.

UniProtKB/Swiss-Prot Summary for SF3B1 Gene

  • Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex (PubMed:27720643). SF3B complex is 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 (PubMed:12234937). Together with other U2 snRNP complex components may also play a role in the selective processing of microRNAs (miRNAs) from the long primary miRNA transcript, pri-miR-17-92 (By similarity). May also be involved in the assembly of the 'E' complex (PubMed:10882114). Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (PubMed:15146077).

Gene Wiki entry for SF3B1 Gene

Additional gene information for SF3B1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SF3B1 Gene

Genomics for SF3B1 Gene

GeneHancer (GH) Regulatory Elements for SF3B1 Gene

Promoters and enhancers for SF3B1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SF3B1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SF3B1

Top Transcription factor binding sites by QIAGEN in the SF3B1 gene promoter:
  • Bach2
  • CREB
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B

Genomic Locations for SF3B1 Gene

Genomic Locations for SF3B1 Gene
chr2:197,388,515-197,435,091
(GRCh38/hg38)
Size:
46,577 bases
Orientation:
Minus strand
chr2:198,254,508-198,299,815
(GRCh37/hg19)
Size:
45,308 bases
Orientation:
Minus strand

Genomic View for SF3B1 Gene

Genes around SF3B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SF3B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SF3B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SF3B1 Gene

Proteins for SF3B1 Gene

  • Protein details for SF3B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75533-SF3B1_HUMAN
    Recommended name:
    Splicing factor 3B subunit 1
    Protein Accession:
    O75533
    Secondary Accessions:
    • E9PCH3

    Protein attributes for SF3B1 Gene

    Size:
    1304 amino acids
    Molecular mass:
    145830 Da
    Quaternary structure:
    • Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21 (PubMed:16603771). Identified in the spliceosome C complex (PubMed:11991638). Component of the U11/U12 snRNPs that are part of the U12-type spliceosome (PubMed:15146077). Component of splicing factor SF3B complex which is composed of at least eight subunits; SF3B1, SF3B2, SF3B3, SF3B4, SF3B5, SF3B6, PHF5A and DDX42 (PubMed:12234937, PubMed:12738865, PubMed:28541300, PubMed:27720643). SF3B associates with the splicing factor SF3A and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP). Interacts directly with the splicing factor U2AF (PubMed:12234937). Within the SF3B complex interacts directly (via HEAT domain) with SF3B3, SF3B5 and (via HEAT domain) with PHF5A (PubMed:27720643). Interacts directly with SF3B6 (PubMed:16432215, Ref.36, PubMed:21062891). The SF3B complex composed of SF3B1, SF3B2, SF3B3, SF3B4, SF3B5, SF3B6 and PHF5A interacts with U2AF2 (PubMed:27720643). Phosphorylated form interacts with PPP1R8 (PubMed:12105215). Interacts with PQBP1 (PubMed:23512658). Interacts with RBM17 (PubMed:17589525). Interacts with RBM39 (PubMed:24795046). Interacts with SETX (PubMed:21700224). Interacts with RBM15 (PubMed:26575292).

    Three dimensional structures from OCA and Proteopedia for SF3B1 Gene

    Alternative splice isoforms for SF3B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SF3B1 Gene

Post-translational modifications for SF3B1 Gene

  • Phosphorylated. Phosphorylation occurs concomitantly with the splicing catalytic steps. Phosphorylation on Thr-244, Thr-248 and Thr-313 by cyclin-dependent kinases promotes interaction with PPP1R8 during mitosis.
  • Citrullinated by PADI4.
  • Ubiquitination at Lys182, Lys195, Lys793, Lys816, Lys926, Lys1014, Lys1102, and Lys1292
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SF3B1 Gene

Domains & Families for SF3B1 Gene

Gene Families for SF3B1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SF3B1 Gene

Suggested Antigen Peptide Sequences for SF3B1 Gene

GenScript: Design optimal peptide antigens:
  • SF3B1 protein (A0JLT9_HUMAN)
  • SF3B1 protein (A0PJH5_HUMAN)
  • cDNA FLJ57368, highly similar to Splicing factor 3B subunit 1 (B4DGZ4_HUMAN)
  • SF3B1 protein (Q32Q20_HUMAN)
  • SF3B1 protein (Q7Z497_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75533

UniProtKB/Swiss-Prot:

SF3B1_HUMAN :
  • Belongs to the SF3B1 family.
Family:
  • Belongs to the SF3B1 family.
genes like me logo Genes that share domains with SF3B1: view

Function for SF3B1 Gene

Molecular function for SF3B1 Gene

UniProtKB/Swiss-Prot Function:
Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex (PubMed:27720643). SF3B complex is 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 (PubMed:12234937). Together with other U2 snRNP complex components may also play a role in the selective processing of microRNAs (miRNAs) from the long primary miRNA transcript, pri-miR-17-92 (By similarity). May also be involved in the assembly of the 'E' complex (PubMed:10882114). Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (PubMed:15146077).

Phenotypes From GWAS Catalog for SF3B1 Gene

Gene Ontology (GO) - Molecular Function for SF3B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA,IDA 27720643
GO:0003729 mRNA binding IBA 21873635
GO:0005515 protein binding IPI 19515850
GO:1990935 splicing factor binding IDA 27720643
genes like me logo Genes that share ontologies with SF3B1: view
genes like me logo Genes that share phenotypes with SF3B1: view

Human Phenotype Ontology for SF3B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SF3B1 Gene

MGI Knock Outs for SF3B1:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for SF3B1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SF3B1 Gene

Localization for SF3B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SF3B1 Gene

Nucleus. Nucleus speckle. Note=During mitosis, transiently dispersed from the nuclear speckles to the cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SF3B1 gene
Compartment Confidence
nucleus 5
plasma membrane 3
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SF3B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 18559850
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex NAS 9585501
GO:0005686 U2 snRNP IDA 11252167
GO:0005689 U12-type spliceosomal complex IDA,IBA 15146077
genes like me logo Genes that share ontologies with SF3B1: view

Pathways & Interactions for SF3B1 Gene

genes like me logo Genes that share pathways with SF3B1: view

Pathways by source for SF3B1 Gene

1 KEGG pathway for SF3B1 Gene
1 Cell Signaling Technology pathway for SF3B1 Gene

SIGNOR curated interactions for SF3B1 Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for SF3B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000245 spliceosomal complex assembly IBA 21873635
GO:0000375 RNA splicing, via transesterification reactions NAS 9585501
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IC,IEA 27720643
genes like me logo Genes that share ontologies with SF3B1: view

Drugs & Compounds for SF3B1 Gene

(1) Drugs for SF3B1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
H3B-8800 Investigational Pharma Target, inhibitor 0
genes like me logo Genes that share compounds with SF3B1: view

Transcripts for SF3B1 Gene

mRNA/cDNA for SF3B1 Gene

3 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for SF3B1

Alternative Splicing Database (ASD) splice patterns (SP) for SF3B1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - -
SP2:
SP3:
SP4: - - -
SP5:
SP6: -
SP7:
SP8:
SP9:

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b
SP1:
SP2: - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for SF3B1 Gene

GeneLoc Exon Structure for
SF3B1

Expression for SF3B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SF3B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SF3B1 Gene

This gene is overexpressed in Tlymphocyte (8.3), Lymph node (7.5), and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SF3B1 Gene



Protein tissue co-expression partners for SF3B1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SF3B1

SOURCE GeneReport for Unigene cluster for SF3B1 Gene:

Hs.632554

Evidence on tissue expression from TISSUES for SF3B1 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Blood(3.1)
  • Heart(3.1)
  • Intestine(3.1)
  • Lung(2.7)
  • Bone marrow(2.6)
  • Skin(2.6)
  • Thyroid gland(2.5)
  • Eye(2.4)
  • Lymph node(2.3)
  • Pancreas(2.3)
  • Adrenal gland(2.2)
  • Kidney(2.2)
  • Spleen(2.2)
  • Gall bladder(2.1)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SF3B1 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
Regions:
General:
  • blood
  • bone marrow
  • coagulation system
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with SF3B1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SF3B1 Gene

Orthologs for SF3B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SF3B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SF3B1 31 30
  • 99.82 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SF3B1 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SF3B1 31 30
  • 95.55 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SF3B1 31 30
  • 95.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sf3b1 17 31 30
  • 93.02 (n)
rat
(Rattus norvegicus)
Mammalia Sf3b1 30
  • 92.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 66 (a)
OneToMany
-- 31
  • 60 (a)
OneToMany
chicken
(Gallus gallus)
Aves SF3B1 31 30
  • 85.34 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SF3B1 31
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sf3b1 30
  • 81.37 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2599 30
zebrafish
(Danio rerio)
Actinopterygii sf3b1 31 30
  • 78.67 (n)
OneToOne
wufb99f09 30
fruit fly
(Drosophila melanogaster)
Insecta CG2807 31 32 30
  • 68.04 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000178 30
  • 65.29 (n)
worm
(Caenorhabditis elegans)
Secernentea T08A11.2 31 30
  • 65.2 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HSH155 33 31
  • 50 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G64270 30
  • 66.61 (n)
soybean
(Glycine max)
eudicotyledons Gma.1115 30
rice
(Oryza sativa)
Liliopsida Os02g0147300 30
  • 65.38 (n)
Os.35337 30
wheat
(Triticum aestivum)
Liliopsida Ta.3352 30
corn
(Zea mays)
Liliopsida Zm.3656 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.683 31
  • 78 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes prp10 30
  • 62.82 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03042 30
  • 62.29 (n)
Species where no ortholog for SF3B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SF3B1 Gene

ENSEMBL:
Gene Tree for SF3B1 (if available)
TreeFam:
Gene Tree for SF3B1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SF3B1: view image

Paralogs for SF3B1 Gene

(1) SIMAP similar genes for SF3B1 Gene using alignment to 8 proteins:

  • SF3B1_HUMAN
  • A0JLT9_HUMAN
  • A0PJH5_HUMAN
  • B4DGZ4_HUMAN
  • F8WC19_HUMAN
  • H7C341_HUMAN
  • Q32Q20_HUMAN
  • Q7Z497_HUMAN
genes like me logo Genes that share paralogs with SF3B1: view

No data available for Paralogs for SF3B1 Gene

Variants for SF3B1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SF3B1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs1057519755 Likely Pathogenic: Acute myeloid leukemia. Likely Pathogenic: Acute myeloid leukemia 197,402,108(-) T/AT/G MISSENSE_VARIANT
rs1057519756 Likely Pathogenic: Acute myeloid leukemia. Likely Pathogenic: Acute myeloid leukemia. Likely Pathogenic: Acute myeloid leukemia 197,402,109(-) T/AT/CT/G MISSENSE_VARIANT
rs1057519961 Likely Pathogenic: Chronic lymphocytic leukemia; Transitional cell carcinoma of the bladder; Malignant melanoma of skin; Adenoid cystic carcinoma 197,402,759(-) C/T MISSENSE_VARIANT
rs374250186 Likely Pathogenic: Acute myeloid leukemia. Likely Pathogenic: Acute myeloid leukemia 197,402,636(-) T/CT/G MISSENSE_VARIANT
rs377023736 Pathogenic: Acute myeloid leukemia; Myelodysplastic syndrome; Myelodysplastic syndrome progressed to acute myeloid leukemia. Likely Pathogenic: Acute myeloid leukemia 197,402,635(-) C/AC/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SF3B1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SF3B1 Gene

Variant ID Type Subtype PubMed ID
nsv1014881 CNV gain 25217958

Variation tolerance for SF3B1 Gene

Residual Variation Intolerance Score: 3.79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.39; 8.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SF3B1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SF3B1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SF3B1 Gene

Disorders for SF3B1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for SF3B1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myelodysplastic syndrome
  • mds
autosomal recessive pyridoxine-refractory sideroblastic anemia 2
  • pyridoxine-refractory autosomal recessive sideroblastic anemia
leukemia, acute myeloid
  • aml
refractory anemia
  • anemia refractory
refractory cytopenia with multilineage dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search SF3B1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SF3B1

genes like me logo Genes that share disorders with SF3B1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SF3B1 Gene

Publications for SF3B1 Gene

  1. Phosphorylation of spliceosomal protein SAP 155 coupled with splicing catalysis. (PMID: 9585501) Wang C … Reed R (Genes & development 1998) 2 3 4 23 54
  2. Molecular architecture of the multiprotein splicing factor SF3b. (PMID: 12738865) Golas MM … Stark H (Science (New York, N.Y.) 2003) 3 4 23 54
  3. Splicing modulators act at the branch point adenosine binding pocket defined by the PHF5A-SF3b complex. (PMID: 28541300) Teng T … Zhu P (Nature communications 2017) 3 4 54
  4. Molecular Architecture of SF3b and Structural Consequences of Its Cancer-Related Mutations. (PMID: 27720643) Cretu C … Pena V (Molecular cell 2016) 3 4 54
  5. Cross-talk between PRMT1-mediated methylation and ubiquitylation on RBM15 controls RNA splicing. (PMID: 26575292) Zhang L … Zhao X (eLife 2015) 3 4 54

Products for SF3B1 Gene