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    Fktn fukutin [ Rattus norvegicus (Norway rat) ]

    Gene ID: 362520, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Fktnprovided by RGD
    Official Full Name
    fukutinprovided by RGD
    Primary source
    RGD:1310087
    See related
    Ensembl:ENSRNOG00000028129 AllianceGenome:RGD:1310087
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Fcmd
    Summary
    Predicted to be involved in negative regulation of JNK cascade; negative regulation of cell population proliferation; and protein O-linked mannosylation. Predicted to be located in cis-Golgi network; endoplasmic reticulum; and nucleus. Predicted to be integral component of Golgi membrane. Human ortholog(s) of this gene implicated in dilated cardiomyopathy (multiple) and muscular dystrophy (multiple). Orthologous to human FKTN (fukutin). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Kidney (RPKM 118.9), Brain (RPKM 85.4) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Fktn in Genome Data Viewer
    Location:
    5q24
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 5 NC_086023.1 (73134746..73191772)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 5 NC_051340.1 (68339803..68396412)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 5 NC_005104.4 (70522001..70578270)

    Chromosome 5 - NC_086023.1Genomic Context describing neighboring genes Neighboring gene solute carrier family 44 member 1 Neighboring gene uncharacterized LOC102551474 Neighboring gene chromobox protein homolog 3-like Neighboring gene fibronectin type III and SPRY domain containing 1-like Neighboring gene uncharacterized LOC134478974 Neighboring gene TAL bHLH transcription factor 2 Neighboring gene transmembrane protein 38B Neighboring gene placenta expressed transcript 1, pseudogene 1

    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. Fukutin protein is expressed in neurons of the normal developing human brain but is reduced in Fukuyama-type congenital muscular dystrophy brain. Saito Y, et al. Ann Neurol, 2000 Jun. PMID 10852541
    2. Development of rabbit monoclonal antibodies for detection of alpha-dystroglycan in normal and dystrophic tissue. Fortunato MJ, et al. PLoS One, 2014. PMID 24824861, Free PMC Article
    3. Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. Yis U, et al. Neuromuscul Disord, 2011 Jan. PMID 20961758
    4. Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation. Puckett RL, et al. Neuromuscul Disord, 2009 May. PMID 19342235, Free PMC Article
    5. Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. Chang W, et al. Prenat Diagn, 2009 Jun. PMID 19266496, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables phosphotransferase activity, for other substituted phosphate groups ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within basement membrane organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within brain development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within cerebellar cortex development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within cerebral cortex development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of JNK cascade ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein O-linked glycosylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein O-linked mannosylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within protein glycosylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within skeletal muscle fiber differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cis-Golgi network ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    ribitol-5-phosphate transferase FKTN
    Names
    Fukuyama type congenital muscular dystrophy (fukutin)
    Fukuyama type congenital muscular dystrophy homolog

    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_001108667.1 → NP_001102137.1  ribitol-5-phosphate transferase FKTN

      See identical proteins and their annotated locations for NP_001102137.1

      Status: PROVISIONAL

      Source sequence(s)
      CH474039
      UniProtKB/TrEMBL
      A6KDP7, D3ZI33
      Conserved Domains (1) summary
      cl01378
      Location:289 → 327
      LicD; LicD family

    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
      73134746..73191772
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006238166.4 → XP_006238228.1  ribitol-5-phosphate transferase FKTN isoform X1

      See identical proteins and their annotated locations for XP_006238228.1

      UniProtKB/TrEMBL
      A6KDP7, D3ZI33
      Conserved Domains (1) summary
      cl01378
      Location:289 → 327
      LicD; LicD family

    2. XM_063287925.1 → XP_063143995.1  ribitol-5-phosphate transferase FKTN isoform X1

      UniProtKB/TrEMBL
      A6KDP7, D3ZI33

    3. XM_063287921.1 → XP_063143991.1  ribitol-5-phosphate transferase FKTN isoform X1

      UniProtKB/TrEMBL
      A6KDP7, D3ZI33

    4. XM_063287926.1 → XP_063143996.1  ribitol-5-phosphate transferase FKTN isoform X2

    5. XM_063287927.1 → XP_063143997.1  ribitol-5-phosphate transferase FKTN isoform X3

    6. XM_063287929.1 → XP_063143999.1  ribitol-5-phosphate transferase FKTN isoform X4

    7. XM_039110248.2 → XP_038966176.1  ribitol-5-phosphate transferase FKTN isoform X3

    8. XM_008763712.3 → XP_008761934.1  ribitol-5-phosphate transferase FKTN isoform X1

      See identical proteins and their annotated locations for XP_008761934.1

      UniProtKB/TrEMBL
      A6KDP7, D3ZI33
      Conserved Domains (1) summary
      cl01378
      Location:289 → 327
      LicD; LicD family

    9. XM_006238169.3 → XP_006238231.1  ribitol-5-phosphate transferase FKTN isoform X1

      See identical proteins and their annotated locations for XP_006238231.1

      UniProtKB/TrEMBL
      A6KDP7, D3ZI33
      Conserved Domains (1) summary
      cl01378
      Location:289 → 327
      LicD; LicD family

    10. XM_039110247.2 → XP_038966175.1  ribitol-5-phosphate transferase FKTN isoform X2

      Conserved Domains (1) summary
      cl01378
      Location:289 → 327
      LicD; LicD family

    11. XM_039110249.2 → XP_038966177.1  ribitol-5-phosphate transferase FKTN isoform X4

    12. XM_063287928.1 → XP_063143998.1  ribitol-5-phosphate transferase FKTN isoform X3

    13. XM_039110244.2 → XP_038966172.1  ribitol-5-phosphate transferase FKTN isoform X1

      UniProtKB/TrEMBL
      A6KDP7, D3ZI33
      Conserved Domains (1) summary
      cl01378
      Location:289 → 327
      LicD; LicD family

    14. XM_063287923.1 → XP_063143993.1  ribitol-5-phosphate transferase FKTN isoform X1

      UniProtKB/TrEMBL
      A6KDP7, D3ZI33

    15. XM_063287924.1 → XP_063143994.1  ribitol-5-phosphate transferase FKTN isoform X1

      UniProtKB/TrEMBL
      A6KDP7, D3ZI33

    RNA

    1. XR_005504478.2 RNA Sequence

    2. XR_005504477.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

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