About   Help   FAQ
Sbf1
Gene Detail
 Symbol
Name
ID
Sbf1
SET binding factor 1
MGI:1925230
Synonyms 2610510A08Rik, B230113C15Rik, MGC:37151, mKIAA3020, Mtmr5
Feature Type protein coding gene
Genetic Map
Chromosome 15
44.79 cM, cytoband F1
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr15:89288236-89315311 bp, - strand
From VEGA annotation of GRCm38

  27076 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:84710  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Sbf1

Human
homologs
Human Homolog SBF1, SET binding factor 1
NCBI Gene ID 6305
neXtProt AC  NX_O95248
Human Synonyms  CMT4B3, DENND7A, MTMR5
Human Chr (Location)  22q13.33; chr22:50445000-50475038 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human SBF1
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(2) Radiation induced(1) Targeted(2)
Genomic Mutations involving Sbf1 (1)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Phenotype Images(3)
Interactions
Sbf1 interacts with 415 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (10 annotations)
Process dephosphorylation, negative regulation of catalytic activity, ...
Component nucleus
Function guanyl-nucleotide exchange factor activity, phosphatase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (103)    Tissues (14)    Images (22)
Theiler Stages: 23
Assay TypeResults
RNA in situ 103
cDNA source data(125)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(125) cDNA(125)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000032616 (Evidence)
Ensembl Gene ModelENSMUSG00000036529 (Evidence)
Entrez Gene77980 (Evidence)
UniGene35483
DFCITC1577851, TC1597219, TC1603022
DoTSDT.101206188, DT.97355096
NIA Mouse Gene IndexU036528
PDB1V5U
Consensus CDS ProjectCCDS37175.2, CCDS49699.1
International Mouse Knockout Project StatusSbf1
Sequences
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 sequences
All sequences(78) RefSeq(14) UniProt(5)
Polymorphisms SNPs within 2kb(56 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR005112 dDENN domain
InterPro IPR001194 DENN domain
InterPro IPR004182 GRAM
InterPro IPR022096 Myotubularin protein
InterPro IPR010569 Myotubularin-related
InterPro IPR001849 Pleckstrin homology domain
InterPro IPR011993 Pleckstrin homology-like domain
InterPro IPR005113 uDENN domain
Protein Ontology PR:000014473 myotubularin-related protein 5
References (Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(38)
Other
accession IDs
MGI:1923842

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/16/2014
MGI 5.19
The Jackson Laboratory