ENSMUSG00000031706


Mus musculus

Features
Gene ID: ENSMUSG00000031706
  
Biological name :Rfx1
  
Synonyms : MHC class II regulatory factor RFX1 / P48377 / Rfx1
  
Possible biological names infered from orthology : P22670 / regulatory factor X1
  
Species: Mus musculus
  
Chr. number: 8
Strand: 1
Band: C2
Gene start: 84066834
Gene end: 84096992
  
Corresponding Affymetrix probe sets: 10573295 (MoGene1.0st)   1422109_at (Mouse Genome 430 2.0 Array)   1436059_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000005600
Ensembl peptide - ENSMUSP00000147677
NCBI entrez gene - 19724     See in Manteia.
MGI - MGI:105982
RefSeq - XM_011248329
RefSeq - NM_009055
RefSeq - XM_006530778
RefSeq - XM_006530779
RefSeq - XM_006530780
RefSeq Peptide - NP_033081
swissprot - P48377
swissprot - A0A1B0GRV3
Ensembl - ENSMUSG00000031706
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rfx1aENSDARG00000005883Danio rerio
 rfx1bENSDARG00000075904Danio rerio
 RFX1ENSG00000132005Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Rfx3 / P48381 / Transcription factor RFX3 / P48380* / regulatory factor X3*ENSMUSG0000004092945
Rfx2 / P48379 / DNA-binding protein RFX2 / P48378* / regulatory factor X2*ENSMUSG0000002420642
Rfx4 / Q7TNK1 / Transcription factor RFX4 / Q33E94* / regulatory factor X4*ENSMUSG0000002003720
Rfx6 / Q8C7R7 / DNA-binding protein RFX6 / Q8HWS3* / regulatory factor X6*ENSMUSG0000001990020
Rfx7 / regulatory factor X7 / Q2KHR2*ENSMUSG0000003767414
Rfx8 / D3YU81 / DNA-binding protein RFX8 / Q6ZV50* / RFX family member 8, lacking RFX DNA binding domain*ENSMUSG0000005717314
Rfx5 / Q9JL61 / Mus musculus regulatory factor X, 5 (influences HLA class II expression) (Rfx5), transcript variant 2, mRNA. / P48382* / regulatory factor X5*ENSMUSG000000057748


Protein motifs (from Interpro)
Interpro ID Name
 IPR003150  DNA-binding RFX-type winged-helix domain
 IPR007668  RFX1 transcription activation region
 IPR036388  Winged helix-like DNA-binding domain superfamily
 IPR036390  Winged helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IBA
 biological_processGO:0006955 immune response IBA
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA
 molecular_functionGO:0003677 DNA binding IDA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IBA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001967 deafness "inability to hear" [J:57651]
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Allelic Composition: Gfi1tm1(cre)Gan/Gfi1+,Rfx1tm1.1Wrth/Rfx1tm1.1Wrth,Rfx3tm2Wrth/Rfx3tm2Wrth
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0004398 cochlear inner hair cell degeneration "degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Gfi1tm1(cre)Gan/Gfi1+,Rfx1tm1.1Wrth/Rfx1tm1.1Wrth,Rfx3tm2Wrth/Rfx3tm2Wrth
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0004402 decreased cochlear outer hair cell number "decreased number (or less than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Gfi1tm1(cre)Gan/Gfi1+,Rfx1tm1.1Wrth/Rfx1tm1.1Wrth,Rfx3tm2Wrth/Rfx3tm2Wrth
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0004403 absent cochlear outer hair cells "absence of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Gfi1tm1(cre)Gan/Gfi1+,Rfx1tm1.1Wrth/Rfx1tm1.1Wrth,Rfx3tm2Wrth/Rfx3tm2Wrth
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0004434 abnormal cochlear outer hair cell physiology "anomalies in processes pertinent to the function of cochlear OHCs which are known to enhance the performance of the cochlea, both qualitatively (increased selectivity) and quantitatively (increased sensitivity); in addition to the mechanoelectric transduction required for auditory sensation, OHCs also perform electromechanical transduction, whereby transmembrane voltage drives rapid changes in the length and stiffness of OHCs at audio frequencies in vitro (electromotility)" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gfi1tm1(cre)Gan/Gfi1+,Rfx1tm1.1Wrth/Rfx1tm1.1Wrth,Rfx3tm2Wrth/Rfx3tm2Wrth
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0006042 increased apoptosis "greater than normal programmed cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Gfi1tm1(cre)Gan/Gfi1+,Rfx1tm1.1Wrth/Rfx1tm1.1Wrth,Rfx3tm2Wrth/Rfx3tm2Wrth
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Gfi1tm1(cre)Gan/Gfi1+,Rfx1tm1.1Wrth/Rfx1tm1.1Wrth,Rfx3tm2Wrth/Rfx3tm2Wrth
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0011061 abnormal inner hair cell kinocilium morphology "any structural anomaly of the nonmotile primary cilium that is found at the apical surface of inner hair cells" [GO:0060091]
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Allelic Composition: Gfi1tm1(cre)Gan/Gfi1+,Rfx1tm1.1Wrth/Rfx1tm1.1Wrth,Rfx3tm2Wrth/Rfx3tm2Wrth
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0011094 complete embryonic lethality before implantation "death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5)" [MGI:csmith]
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Allelic Composition: Atrtm1Ofc/Atrtm1Ofc,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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