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SF3B5 splicing factor 3b subunit 5 [ Homo sapiens (human) ]

Gene ID: 83443, updated on 5-Mar-2024

Summary

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Official Symbol
SF3B5provided by HGNC
Official Full Name
splicing factor 3b subunit 5provided by HGNC
Primary source
HGNC:HGNC:21083
See related
Ensembl:ENSG00000169976 MIM:617847; AllianceGenome:HGNC:21083
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Ysf3; SF3b10
Summary
Enables RNA binding activity and splicing factor binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleoplasm. Part of U12-type spliceosomal complex and U2-type precatalytic spliceosome. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
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Genomic context

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See SF3B5 in Genome Data Viewer
Location:
6q24.2
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (144094884..144095573, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (145287613..145288302, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (144416021..144416710, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene PLAG1 like zinc finger 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:144328825-144329007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17633 Neighboring gene hydatidiform mole associated and imprinted Neighboring gene FKBP prolyl isomerase 7 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17636 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17637 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:144410739-144410950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25211 Neighboring gene uncharacterized LOC105378036 Neighboring gene mitochondrial ribosomal protein L42 pseudogene 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Splicing modulators act at the branch point adenosine binding pocket defined by the PHF5A-SF3b complex. Teng T, et al. Nat Commun, 2017 May 25. PMID 28541300, Free PMC Article
  2. Molecular Architecture of SF3b and Structural Consequences of Its Cancer-Related Mutations. Cretu C, et al. Mol Cell, 2016 Oct 20. PMID 27720643
  3. Structural and functional modularity of the U2 snRNP in pre-mRNA splicing. van der Feltz C, et al. Crit Rev Biochem Mol Biol, 2019 Oct. PMID 31744343, Free PMC Article
  4. Structure of the human activated spliceosome in three conformational states. Zhang X, et al. Cell Res, 2018 Mar. PMID 29360106, Free PMC Article
  5. Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD-box protein. Will CL, et al. EMBO J, 2002 Sep 16. PMID 12234937, Free PMC Article

See all (71) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC3133

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables splicing factor binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in U2-type prespliceosome assembly NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mRNA splicing, via spliceosome NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of DNA repair NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of RNA splicing NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of SAGA complex NAS
Non-traceable Author Statement
more info
 PubMed 
part_of U12-type spliceosomal complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of U2 snRNP IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of U2 snRNP NAS
Non-traceable Author Statement
more info
 PubMed 
part_of U2-type precatalytic spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
part_of U2-type spliceosomal complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of U2-type spliceosomal complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 
part_of precatalytic spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of spliceosomal complex NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
splicing factor 3B subunit 5
Names
pre-mRNA-splicing factor SF3b 10 kDa subunit
splicing factor 3b, subunit 5, 10kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_031287.3 → NP_112577.1  splicing factor 3B subunit 5

    See identical proteins and their annotated locations for NP_112577.1

    Status: VALIDATED

    Source sequence(s)
    AK074417
    Consensus CDS
    CCDS5204.1
    UniProtKB/Swiss-Prot
    B2R568, Q7RTV1, Q9BWJ5
    Related
    ENSP00000356541.2, ENST00000367569.4
    Conserved Domains (1) summary
    pfam07189
    Location:3 → 77
    SF3b10; Splicing factor 3B subunit 10 (SF3b10)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    144094884..144095573 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    145287613..145288302 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BWJ5.1 GenPept UniProtKB/Swiss-Prot:Q9BWJ5

Gene LinkOut

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