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    Mfrp membrane frizzled-related protein [ Rattus norvegicus (Norway rat) ]

    Gene ID: 315597, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Mfrpprovided by RGD
    Official Full Name
    membrane frizzled-related proteinprovided by RGD
    Primary source
    RGD:1307477
    See related
    EnsemblRapid:ENSRNOG00000039107 AllianceGenome:RGD:1307477
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to act upstream of or within eye photoreceptor cell development; retina development in camera-type eye; and visual perception. Predicted to be located in plasma membrane. Human ortholog(s) of this gene implicated in isolated microphthalmia 5; microphthalmia; nanophthalmos; and retinitis pigmentosa. Orthologous to human MFRP (membrane frizzled-related protein). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Brain (RPKM 19.8), Adrenal (RPKM 5.8) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Mfrp in Genome Data Viewer
    Location:
    8q22
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 8 NC_086026.1 (53342483..53347696)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 8 NC_051343.1 (44445636..44450859)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 8 NC_005107.4 (48437720..48443421)

    Chromosome 8 - NC_086026.1Genomic Context describing neighboring genes Neighboring gene Thy-1 cell surface antigen Neighboring gene ubiquitin specific peptidase 2 Neighboring gene C1q and TNF related 5 Neighboring gene ring finger protein 26

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept. Dinculescu A, et al. Hum Gene Ther, 2012 Apr. PMID 22142163, Free PMC Article
    2. Identification of MFRP Mutations in Chinese Families with High Hyperopia. Xu Y, et al. Optom Vis Sci, 2016 Jan. PMID 26583794
    3. Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds. Wasmann RA, et al. Acta Ophthalmol, 2014 May. PMID 23742260, Free PMC Article
    4. Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. Zenteno JC, et al. Mol Vis, 2009 Sep 5. PMID 19753314, Free PMC Article
    5. Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. Kannabiran C, et al. Mol Vis, 2012. PMID 22605927, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mfrp expression increases at night in the rat pineal gland over 10-fold.
      Title: Night/day changes in pineal expression of >600 genes: central role of adrenergic/cAMP signaling.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within eye photoreceptor cell development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within retina development in camera-type eye ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within visual perception ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    membrane frizzled-related protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001108137.2 → NP_001101607.1  membrane frizzled-related protein

      See identical proteins and their annotated locations for NP_001101607.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000008
      UniProtKB/TrEMBL
      A6J3V6, D3ZU82
      Related
      ENSRNOP00000056560.3, ENSRNOT00000059813.5
      Conserved Domains (3) summary
      cd00041
      Location:307 → 419
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00112
      Location:266 → 300
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      pfam01392
      Location:477 → 579
      Fz; Fz domain

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086026.1 Reference GRCr8

      Range
      53342483..53347696
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006242933.5 → XP_006242995.1  membrane frizzled-related protein isoform X1

      Conserved Domains (3) summary
      cd00041
      Location:307 → 419
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00112
      Location:266 → 300
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      pfam01392
      Location:471 → 573
      Fz; Fz domain

    2. XM_039081419.2 → XP_038937347.1  membrane frizzled-related protein isoform X2

      Conserved Domains (3) summary
      cd00041
      Location:307 → 405
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00112
      Location:266 → 300
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      pfam01392
      Location:453 → 555
      Fz; Fz domain
    Nucleotide Protein Strain
    Heading Accession and Version

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