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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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