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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
  • Alliance
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:84793463-84823621 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 8, 40.28 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    332 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105982
protein coding gene Chr8:84789787-84823630 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033853
protein coding gene Chr8:84938126-84968471 (+)
A/J MGP_AJ_G0033836
protein coding gene Chr8:81611094-81641424 (+)
AKR/J MGP_AKRJ_G0033762
protein coding gene Chr8:84023592-84053918 (+)
BALB/cJ MGP_BALBcJ_G0033829
protein coding gene Chr8:81717143-81747746 (+)
C3H/HeJ MGP_C3HHeJ_G0033539
protein coding gene Chr8:84627865-84658197 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034349
protein coding gene Chr8:88197386-88227526 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031291
protein coding gene Chr8:75406907-75436668 (+)
CAST/EiJ MGP_CASTEiJ_G0032869
protein coding gene Chr8:84051288-84081414 (+)
CBA/J MGP_CBAJ_G0033515
protein coding gene Chr8:91311439-91341715 (+)
DBA/2J MGP_DBA2J_G0033669
protein coding gene Chr8:81245648-81275872 (+)
FVB/NJ MGP_FVBNJ_G0033616
protein coding gene Chr8:80167405-80198374 (+)
LP/J MGP_LPJ_G0033760
protein coding gene Chr8:85050365-85082239 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033658
protein coding gene Chr8:93809895-93841792 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034366
protein coding gene Chr8:83997575-84027693 (+)
PWK/PhJ MGP_PWKPhJ_G0032573
protein coding gene Chr8:80471676-80502195 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032409
protein coding gene Chr8:82808813-82838976 (+)
WSB/EiJ MGP_WSBEiJ_G0032982
protein coding gene Chr8:84412401-84442630 (+)



Homology
more
  • Human Ortholog
    RFX1, regulatory factor X1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RFX1, regulatory factor X1
  • Synonyms
    EFC, RFX
  • Links
    NCBI Gene ID: 5989
    neXtProt AC: NX_P22670
    UniProt: P22670

  • Chr Location
    19p13.12; chr19:13961530-14007039 (-)  GRCh38

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 2 alleles in 2 genetic backgrounds
    8 phenotypes from multigenic genotypes
    41 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
    26
  • Chemically induced (other)
    1
  • Endonuclease-mediated
    2
  • Gene trapped
    17
  • Radiation induced
    1
  • Targeted
    5
  • Genomic Mutations
    2 involving Rfx1
  • Incidental Mutations
    APF , CvDC
  • Find Mice (IMSR)
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
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000031706 Ensembl Gene Model | MGI Sequence Detail 30159 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
Protein
Information
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  • UniProt
    4 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
    IPR039779 RFX-like DNA-binding protein
    IPR036390 Winged helix DNA-binding domain superfamily
    IPR036388 Winged helix-like DNA-binding domain superfamily
Molecular
Reagents
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  • All nucleic 60
    cDNA 56
    Primer pair 2
    Other 2

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-33662, MGI:2142460, MGI:2142518
References
more
  • Summaries
    All 82
    Developmental Gene Expression 12
    Gene Ontology 5
    Phenotypes 41
  • Earliest
    J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54(1):113-145
  • Latest
    J:342133 Yang S, et al., Regulatory factor X1 induces macrophage M1 polarization by promoting DNA demethylation in autoimmune inflammation. JCI Insight. 2023 Oct 23;8(20)

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
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory