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CLN5 CLN5 intracellular trafficking protein [ Ovis aries (sheep) ]

Gene ID: 100034668, updated on 12-May-2024

Summary

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Gene symbol
CLN5
Gene description
CLN5 intracellular trafficking protein
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Ovis aries
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Ovis
Orthologs
human mouse all
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Genomic context

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See CLN5 in Genome Data Viewer
Location:
chromosome: 10
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current ARS-UI_Ramb_v3.0 (GCF_016772045.2) 10 NC_056063.1 (52713507..52724305)

Chromosome 10 - NC_056063.1Genomic Context describing neighboring genes Neighboring gene U6 spliceosomal RNA Neighboring gene aconitate decarboxylase 1 Neighboring gene uncharacterized LOC132657260 Neighboring gene F-box and leucine rich repeat protein 3 Neighboring gene MYC binding protein 2

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_056063.1 Chromosome 10 Reference ARS-UI_Ramb_v3.0 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3. Frugier T, et al. Neurobiol Dis, 2008 Feb. PMID 17988881, Free PMC Article
  2. Longitudinal In Vivo Monitoring of the CNS Demonstrates the Efficacy of Gene Therapy in a Sheep Model of CLN5 Batten Disease. Mitchell NL, et al. Mol Ther, 2018 Oct 3. PMID 30078766, Free PMC Article
  3. An EEG Investigation of Sleep Homeostasis in Healthy and CLN5 Batten Disease Affected Sheep. Perentos N, et al. J Neurosci, 2016 Aug 3. PMID 27488642, Free PMC Article
  4. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article
  5. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. These findings demonstrate the efficacy of CLN5 gene therapy, using three different vector platforms, in a large animal model and, thus, the prognosis for human translation
    Title: Longitudinal In Vivo Monitoring of the CNS Demonstrates the Efficacy of Gene Therapy in a Sheep Model of CLN5 Batten Disease.
  2. We conclude that, whereas sleep homeostasis is present in CLN5(-/-) sheep, underlying CLN5(-/-) disease processes prevent its full expression, even at early stages.
    Title: An EEG Investigation of Sleep Homeostasis in Healthy and CLN5 Batten Disease Affected Sheep.
  3. CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3
    Title: A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3.
Submit: New GeneRIF Correction

General gene information

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Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables hydrolase activity, acting on glycosyl bonds IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in lysosome organization IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
located_in lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in lysosome IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
bis(monoacylglycero)phosphate synthase CLN5; ceroid-lipofuscinosis neuronal protein 5
Names
BMP synthase CLN5
Ceroid-lipofuscinosis neuronal protein 5
S-depalmitoylase CLN5
ceroid-lipofuscinosis, neuronal 5
palmitoyl protein thioesterase CLN5
NP_001076064.1
XP_027829301.1

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_001082595.1 → NP_001076064.1  bis(monoacylglycero)phosphate synthase CLN5 precursor

    See identical proteins and their annotated locations for NP_001076064.1

    Status: PROVISIONAL

    Source sequence(s)
    EF204938
    UniProtKB/Swiss-Prot
    A2TJ54
    UniProtKB/TrEMBL
    A0A836A2P4
    Conserved Domains (1) summary
    pfam15014
    Location:54 → 351
    CLN5; Ceroid-lipofuscinosis neuronal protein 5

RefSeqs of Annotated Genomes: GCF_016772045.2-RS_2023_10

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

Reference ARS-UI_Ramb_v3.0 Primary Assembly

Genomic

  1. NC_056063.1 Reference ARS-UI_Ramb_v3.0 Primary Assembly

    Range
    52713507..52724305
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_027973500.3 → XP_027829301.1  ceroid-lipofuscinosis neuronal protein 5 isoform X1

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A2TJ54.1 GenPept UniProtKB/Swiss-Prot:A2TJ54

Gene LinkOut

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