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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
  • Gene Overview
    MyGene.info: SBF1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr15:89288236-89315311 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      27076 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 44.79 cM, cytoband F1
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SBF1, SET binding factor 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SBF1, SET binding factor 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMT4B3, DENND7A, MTMR5
  • Links
    NCBI Gene ID: 6305
    neXtProt AC: NX_O95248
    UniProt: O95248

  • Chr Location
    22q13.33; chr22:50445000-50475071 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human SBF1 associations

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

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    3 images
    23 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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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 OTTMUSG00000032616 VEGA Gene Model | MGI Sequence Detail 27076 C57BL/6J ±  kb
    transcript OTTMUST00000081116 VEGA | MGI Sequence Detail 6165 Not Applicable  
    polypeptide OTTMUSP00000043337 VEGA | MGI Sequence Detail 1893 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      56 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 125
      cDNA 125

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1923842
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 4
      Phenotypes 23
    • 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:233611 Hirata A, et al., Homeobox family Hoxc localization during murine palate formation. Congenit Anom (Kyoto). 2016 Jul;56(4):172-9

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory