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    Cln8 CLN8, transmembrane ER and ERGIC protein [ Rattus norvegicus (Norway rat) ]

    Gene ID: 306619, updated on 9-Dec-2024

    Summary

    Official Symbol
    Cln8provided by RGD
    Official Full Name
    CLN8, transmembrane ER and ERGIC proteinprovided by RGD
    Primary source
    RGD:1359518
    See related
    EnsemblRapid:ENSRNOG00000012565 AllianceGenome:RGD:1359518
    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
    Summary
    Predicted to enable ceramide binding activity. Predicted to be involved in several processes, including ceramide metabolic process; cholesterol metabolic process; and lipid homeostasis. Predicted to act upstream of or within several processes, including adult walking behavior; glutamate reuptake; and neurofilament cytoskeleton organization. Predicted to be located in endoplasmic reticulum-Golgi intermediate compartment. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 8 and neuronal ceroid lipofuscinosis 8 northern epilepsy variant. Orthologous to human CLN8 (CLN8 transmembrane ER and ERGIC protein). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Spleen (RPKM 91.3), Heart (RPKM 48.6) and 9 other tissues See more
    Orthologs
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    Genomic context

    See Cln8 in Genome Data Viewer
    Location:
    16q12.5
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 16 NC_086034.1 (81451941..81462046, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 16 NC_051351.1 (74749662..74759553, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 16 NC_005115.4 (79828321..79838212, complement)

    Chromosome 16 - NC_086034.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102557538 Neighboring gene Rho guanine nucleotide exchange factor 10 Neighboring gene uncharacterized LOC134482525 Neighboring gene uncharacterized LOC134482527 Neighboring gene DLG associated protein 2 Neighboring gene uncharacterized LOC134482419

    Genomic regions, transcripts, and products

    Expression

    • 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

    General gene information

    Markers

    Clone Names

    • MGC93871

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables ceramide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ceramide binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ceramide binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within adult locomotory behavior ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within adult walking behavior ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within associative learning ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in biological_process ND
    No biological Data available
    more info
     
    involved_in ceramide metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in ceramide metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cholesterol metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cholesterol metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within glutamate reuptake ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in lipid homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within lysosome organization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within macromolecule catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within mitochondrial membrane organization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within musculoskeletal movement ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of neuron apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of transferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in nervous system development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within neurofilament cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neuromuscular process controlling balance ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neuromuscular process controlling posture ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of neuron apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in phospholipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within phospholipid metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in phospholipid metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in phospholipid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within photoreceptor cell maintenance ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of cell size 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 retinal rod cell apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within social behavior ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within somatic motor neuron differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within spinal cord motor neuron differentiation 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
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum-Golgi intermediate compartment ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum-Golgi intermediate compartment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein CLN8
    Names
    ceroid-lipofuscinosis, neuronal 8

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001007686.1NP_001007687.1  protein CLN8

      See identical proteins and their annotated locations for NP_001007687.1

      Status: PROVISIONAL

      Source sequence(s)
      BC078982
      UniProtKB/Swiss-Prot
      Q6AYM9
      UniProtKB/TrEMBL
      A6IWE0
      Related
      ENSRNOP00000016756.3, ENSRNOT00000016756.6
      Conserved Domains (1) summary
      smart00724
      Location:64262
      TLC; TRAM, LAG1 and CLN8 homology domains

    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_086034.1 Reference GRCr8

      Range
      81451941..81462046 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006253394.5XP_006253456.1  protein CLN8 isoform X1

      See identical proteins and their annotated locations for XP_006253456.1

      UniProtKB/Swiss-Prot
      Q6AYM9
      UniProtKB/TrEMBL
      A6IWE0
      Conserved Domains (1) summary
      smart00724
      Location:64262
      TLC; TRAM, LAG1 and CLN8 homology domains