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Rfxap Gene Detail
Summary
  • Symbol
    Rfxap
  • Name
    regulatory factor X-associated protein
  • Synonyms
    5730495K23Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2180854
    NCBI Gene: 170767
  • Gene Overview
    MyGene.info: RFXAP
Location & Maps
more
  • Sequence Map
    Chr3:54803115-54807791 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4677 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 25.69 cM, cytoband D
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    RFXAP, regulatory factor X associated protein
  • Vertebrate Orthologs
    7
  • Human Ortholog
    RFXAP, regulatory factor X associated protein
    Orthology source: HomoloGene, HGNC
  • Links
    NCBI Gene ID: 5994
    neXtProt AC: NX_O00287

  • Chr Location
    13q14; chr13:36819202-36829603 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human RFXAP associations

Human Disease Mouse Models
       Bare Lymphocyte Syndrome, Type II   OMIM: 209920
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotype references
  • All Mutations and Alleles
    2
  • Radiation induced
    2
  • Genomic Mutations
    2 involving Rfxap
  • Incidental Mutations
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
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
  • Other Mouse Links
  • Other Vertebrate Links
    Xenbase rfxap
Interactions
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Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000043569 VEGA Gene Model | MGI Sequence Detail 4677 C57BL/6J ±  kb
transcript OTTMUST00000114383 VEGA | MGI Sequence Detail 2162 Not Applicable  
polypeptide OTTMUSP00000063838 VEGA | MGI Sequence Detail 231 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    50 from dbSNP Build 142
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000013931 regulatory factor X-associated protein
  • InterPro Domains
    IPR029316 Regulatory factor X-associated protein, RFXANK-binding domain
Molecular
Reagents
less
  • All nucleic 36
    cDNA 35
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:2444693
References
more
  • Summaries
    All 24
    Developmental Gene Expression 3
    Gene Ontology 1
    Phenotypes 6
  • Earliest
    J:64911 Inoue S, et al., Growth suppression of Escherichia coli by induction of expression of mammalian genes with transmembrane or ATPase domains. Biochem Biophys Res Commun. 2000 Feb 16;268(2):553-61
  • Latest
    J:156017 Yokoyama S, et al., A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58. Dev Cell. 2009 Dec;17(6):836-48

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory