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Rfx1 Gene Detail
Summary
  • Symbol
    Rfx1
  • Name
    regulatory factor X, 1 (influences HLA class II expression)
  • Feature Type
    protein coding gene
  • IDs
    MGI:105982
    NCBI Gene: 19724
  • Gene Overview
    MyGene.info: RFX1
Location & Maps
more
  • Sequence Map
    Chr8:84066836-84096992 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      30157 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 40.28 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    RFX1, regulatory factor X1
  • Vertebrate Orthologs
    7
  • Human Ortholog
    RFX1, regulatory factor X1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    EFC, RFX
  • Links
    NCBI Gene ID: 5989
    neXtProt AC: NX_P22670

  • Chr Location
    19p13.1; chr19:13961530-14007514 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    33 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.
  • All Mutations and Alleles
    22
  • Chemically induced (other)
    1
  • Gene trapped
    18
  • Radiation induced
    1
  • Targeted
    2
  • Genomic Mutations
    2 involving Rfx1
  • Incidental Mutations
    APF , CvDC
Mice homozygous for a gene trap allele die prior to implantation.
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
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000031706 Ensembl Gene Model | MGI Sequence Detail 30157 C57BL/6J ±  kb
transcript ENSMUST00000005600 Ensembl | MGI Sequence Detail 4172 Not Applicable  
polypeptide ENSMUSP00000005600 Ensembl | MGI Sequence Detail 963 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    337 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000013923 MHC class II regulatory factor RFX1
  • InterPro Domains
    IPR003150 DNA-binding RFX-type winged-helix domain
    IPR007668 RFX1 transcription activation region
    IPR011991 Winged helix-turn-helix DNA-binding domain
Molecular
Reagents
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  • All nucleic 58
    cDNA 55
    Primer pair 2
    Other 1

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-33662, MGI:2142460, MGI:2142518
References
more
  • Summaries
    All 42
    Developmental Gene Expression 8
    Gene Ontology 5
    Phenotypes 33
  • Earliest
    J:15188 Safrany G, et al., Transcription factor RFX1 helps control the promoter of the mouse ribosomal protein-encoding gene rpL30 by binding to its alpha element. Gene. 1993 Oct 15;132(2):279-83
  • Latest
    J:209144 Bae BI, et al., Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. Science. 2014 Feb 14;343(6172):764-8

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
07/19/2016
MGI 6.04
The Jackson Laboratory