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Sf3b1 Gene Detail
Summary
  • Symbol
    Sf3b1
  • Name
    splicing factor 3b, subunit 1
  • Synonyms
    2810001M05Rik, Prp10, SAP155, SF3b155, Targ4
  • Feature Type
    protein coding gene
  • IDs
    MGI:1932339
    NCBI Gene: 81898
  • Gene Overview
    MyGene.info: SF3B1
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:54985169-55027481 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 27.98 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    241 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1932339
protein coding gene Chr1:54985169-55027493 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016028
protein coding gene Chr1:54686911-54735981 (-)
A/J MGP_AJ_G0016011
protein coding gene Chr1:52788662-52832766 (-)
AKR/J MGP_AKRJ_G0015967
protein coding gene Chr1:54207536-54267293 (-)
BALB/cJ MGP_BALBcJ_G0015966
protein coding gene Chr1:52837036-52880795 (-)
C3H/HeJ MGP_C3HHeJ_G0015798
protein coding gene Chr1:54465381-54512861 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016419
protein coding gene Chr1:56947850-57000548 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014141
protein coding gene Chr1:48888767-48929758 (-)
CAST/EiJ MGP_CASTEiJ_G0015380
protein coding gene Chr1:53739789-53787366 (-)
CBA/J MGP_CBAJ_G0015770
protein coding gene Chr1:58565363-58610050 (-)
DBA/2J MGP_DBA2J_G0015871
protein coding gene Chr1:52215478-52258516 (-)
FVB/NJ MGP_FVBNJ_G0015873
protein coding gene Chr1:51565968-51608845 (-)
LP/J MGP_LPJ_G0015943
protein coding gene Chr1:55521006-55564443 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0015893
protein coding gene Chr1:61675620-61724747 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016466
protein coding gene Chr1:54174324-54220849 (-)
PWK/PhJ MGP_PWKPhJ_G0015166
protein coding gene Chr1:51571199-51616235 (-)
SPRET/EiJ MGP_SPRETEiJ_G0014947
protein coding gene Chr1:53801036-53846140 (-)
WSB/EiJ MGP_WSBEiJ_G0015443
protein coding gene Chr1:53857116-53902762 (-)



Homology
more
  • Human Ortholog
    SF3B1, splicing factor 3b subunit 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SF3B1, splicing factor 3b subunit 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    Hsh155, MDS, PRP10, PRPF10, SAP155, SF3b155
  • Links
    NCBI Gene ID: 23451
    neXtProt AC: NX_O75533
    UniProt: O75533

  • Chr Location
    2q33.1; chr2:197391974-197435093 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human SF3B1 associations

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    16 phenotypes from 2 alleles in 2 genetic backgrounds
    18 phenotypes from multigenic genotypes
    17 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous null embryos die around the 16- to 32-cell stage. Heterozygous mice exhibit various skeletal transformations.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025982 Ensembl Gene Model | MGI Sequence Detail 42313 C57BL/6J ±  kb
    transcript ENSMUST00000027127 Ensembl | MGI Sequence Detail 6195 Not Applicable  
    polypeptide ENSMUSP00000027127 Ensembl | MGI Sequence Detail 1304 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 374
      cDNA 371
      Primer pair 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1100839, MGI:1923833, MGI:2138089
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 11
      Phenotypes 17
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:264230 Lee SC, et al., Synthetic Lethal and Convergent Biological Effects of Cancer-Associated Spliceosomal Gene Mutations. Cancer Cell. 2018 Aug 13;34(2):225-241.e8

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory