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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
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:55024328-55066640 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 27.98 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    993 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1932339
 protein coding gene Chr1:55024328-55066660 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SF3B1, splicing factor 3b subunit 1
  • Synonyms
    Hsh155, MDS, PRP10, PRPF10, SAP155, SF3b155
  • Links
    NCBI Gene ID: 23451
    neXtProt AC: NX_O75533
    UniProt: O75533

  • Chr Location
    2q33.1; chr2:197388515-197435093 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Sf3b1 mouse models; 2 with human SF3B1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    24 phenotypes from 2 alleles in 3 genetic backgrounds
    18 phenotypes from multigenic genotypes
    28 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
    44
  • GO References
    17
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    773
  • Tissues
    49
  • cDNA Data
    369
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 73
      Developmental Gene Expression 7
      Diseases 2
      Gene Ontology 17
      Phenotypes 28
    • 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:354884 Shi Y, et al., Cancer-associated SF3B1-K700E mutation controls immune responses by regulating T(reg) function via aberrant Anapc13 splicing. Sci Adv. 2024 Sep 20;10(38):eado4274
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory