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    Frem1 Fras1 related extracellular matrix 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 298185, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Frem1provided by RGD
    Official Full Name
    Fras1 related extracellular matrix 1provided by RGD
    Primary source
    RGD:1306981
    See related
    EnsemblRapid:ENSRNOG00000022309 AllianceGenome:RGD:1306981
    Gene type
    protein coding
    RefSeq status
    INFERRED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1306981
    Summary
    Predicted to be involved in craniofacial suture morphogenesis. Predicted to act upstream of or within cell-matrix adhesion. Predicted to be located in basement membrane. Predicted to be active in collagen-containing extracellular matrix. Biomarker of congenital diaphragmatic hernia. Human ortholog(s) of this gene implicated in congenital diaphragmatic hernia. Orthologous to human FREM1 (FRAS1 related extracellular matrix 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Kidney (RPKM 165.7), Lung (RPKM 114.5) and 8 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Frem1 in Genome Data Viewer
    Location:
    5q31
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 5 NC_086023.1 (102367201..102515464, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 5 NC_051340.1 (97321266..97469523, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 5 NC_005104.4 (101018009..101166794, complement)

    Chromosome 5 - NC_086023.1Genomic Context describing neighboring genes Neighboring gene zinc finger DHHC-type palmitoyltransferase 21 Neighboring gene cerberus 1, DAN family BMP antagonist Neighboring gene DBF4 zinc finger, pseudogene 1 Neighboring gene small nucleolar RNA SNORA17 Neighboring gene uncharacterized LOC102552278

    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 Expression of FRAS1-Related Extracellular Matrix 1 Is Decreased in Nitrofen-Induced Congenital Diaphragmatic Hernia. Takahashi T, et al. Eur J Pediatr Surg, 2016 Feb. PMID 26382659
    2. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. Slavotinek AM, et al. J Med Genet, 2011 Jun. PMID 21507892, Free PMC Article
    3. Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3. Beck TF, et al. PLoS One, 2013. PMID 23536828, Free PMC Article
    4. Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Beck TF, et al. Hum Mol Genet, 2013 Mar 1. PMID 23221805, Free PMC Article
    5. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. Vissers LE, et al. PLoS Genet, 2011 Sep. PMID 21931569, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in cell communication IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell-matrix adhesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in craniofacial suture morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in basement membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    FRAS1-related extracellular matrix protein 1

    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_001411535.1 → NP_001398464.1  FRAS1-related extracellular matrix protein 1 precursor

      Status: INFERRED

      Source sequence(s)
      JAXUCZ010000005
      UniProtKB/TrEMBL
      A0A0G2KB00
      Related
      ENSRNOP00000075592.3, ENSRNOT00000078862.3

    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_086023.1 Reference GRCr8

      Range
      102367201..102515464 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039109508.2 → XP_038965436.1  FRAS1-related extracellular matrix protein 1 isoform X1

      Conserved Domains (1) summary
      pfam16184
      Location:402 → 508
      Cadherin_3; Cadherin-like

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001191757.1: Suppressed sequence

      Description
      NM_001191757.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version

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