About   Help   FAQ
Sbf1 Gene Detail
Summary
  • Symbol
    Sbf1
  • Name
    SET binding factor 1
  • Synonyms
    2610510A08Rik, B230113C15Rik, MGC:37151, mKIAA3020, Mtmr5
  • Feature Type
    protein coding gene
  • IDs
    MGI:1925230
    NCBI Gene: 77980
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:89172439-89199514 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 44.79 cM, cytoband F1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    380 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1925230
 protein coding gene Chr15:89171138-89199514 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022224
 protein coding gene Chr15:90473223-90501173 (-)
A/J MGP_AJ_G0022183
 protein coding gene Chr15:87012665-87040177 (-)
AKR/J MGP_AKRJ_G0022158
 protein coding gene Chr15:89586758-89615043 (-)
BALB/cJ MGP_BALBcJ_G0022189
 protein coding gene Chr15:87119329-87145829 (-)
C3H/HeJ MGP_C3HHeJ_G0021959
 protein coding gene Chr15:89581615-89608967 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022634
 protein coding gene Chr15:93765370-93791928 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020159
 protein coding gene Chr15:83233574-83262170 (-)
CAST/EiJ MGP_CASTEiJ_G0021481
 protein coding gene Chr15:90358092-90386714 (-)
CBA/J MGP_CBAJ_G0021926
 protein coding gene Chr15:96937545-96964215 (-)
DBA/2J MGP_DBA2J_G0022053
 protein coding gene Chr15:86465176-86491700 (-)
FVB/NJ MGP_FVBNJ_G0022032
 protein coding gene Chr15:85531067-85558329 (-)
LP/J MGP_LPJ_G0022124
 protein coding gene Chr15:90633757-90660354 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022052
 protein coding gene Chr15:101341250-101369936 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022649
 protein coding gene Chr15:89628101-89654707 (-)
PWK/PhJ MGP_PWKPhJ_G0021222
 protein coding gene Chr15:86525888-86552522 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021056
 protein coding gene Chr15:89364089-89391918 (-)
WSB/EiJ MGP_WSBEiJ_G0021530
 protein coding gene Chr15:90111147-90139600 (-)



Homology
more
  • Human Ortholog
    SBF1, SET binding factor 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SBF1, SET binding factor 1
  • Synonyms
    CMT4B3, DENND7A, MTMR5
  • Links
    NCBI Gene ID: 6305
    neXtProt AC: NX_O95248
    UniProt: O95248

  • Chr Location
    22q13.33; chr22:50443219-50483923 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Sbf1 mouse models; 1 with human SBF1 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
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    36 phenotypes from 3 alleles in 3 genetic backgrounds
    3 phenotypes from multigenic genotypes
    3 images
    29 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.
Male homozygotes for a targeted null mutation exhibit male infertility associated with azoospermia, vacuolation of Sertoli cells, reduced spermatid formation, and eventual depletion of germ cells.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    15
  • GO References
    6
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
    809
  • Tissues
    14
  • cDNA Data
    126
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000036529 Ensembl Gene Model | MGI Sequence Detail 27076 C57BL/6J ±  kb
    transcript ENSMUST00000144585 Ensembl | MGI Sequence Detail 6165 Not Applicable  
    polypeptide ENSMUSP00000118107 Ensembl | MGI Sequence Detail 1893 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 126
      cDNA 126

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1923842
    References
    more
    • Summaries
      All 59
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 6
      Phenotypes 29
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory