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CLN5 ceroid-lipofuscinosis, neuronal 5 [ Homo sapiens (human) ]

Gene ID: 1203, updated on 11-Jun-2017
Official Symbol
CLN5provided by HGNC
Official Full Name
ceroid-lipofuscinosis, neuronal 5provided by HGNC
Primary source
HGNC:HGNC:2076
See related
Ensembl:ENSG00000102805 MIM:608102; Vega:OTTHUMG00000017100
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NCL
Summary
This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008]
Orthologs
Location:
13q22.3
Exon count:
5
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 13 NC_000013.11 (76991924..77002517)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (77566059..77576652)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7 pseudogene 44 Neighboring gene DEAH-box helicase 9 pseudogene 1 Neighboring gene F-box and leucine rich repeat protein 3 Neighboring gene MYC binding protein 2, E3 ubiquitin protein ligase Neighboring gene MYCBP2 antisense RNA 1 Neighboring gene uncharacterized LOC107984564

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Ceroid lipofuscinosis neuronal 5
MedGen: C1850442 OMIM: 256731 GeneReviews: Neuronal Ceroid-Lipofuscinoses
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NHGRI GWAS Catalog

Description
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
NHGRI GWA Catalog
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ90628

Gene Ontology Provided by GOA

Function Evidence Code Pubs
mannose binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
brain development IEP
Inferred from Expression Pattern
more info
PubMed 
glycosylation IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal lumen acidification IMP
Inferred from Mutant Phenotype
more info
PubMed 
neurogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
neuron maturation NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of GTP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
retrograde transport, endosome to Golgi IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal peptide processing IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
ceroid-lipofuscinosis neuronal protein 5

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.

Genomic

  1. NG_009064.1 RefSeqGene

    Range
    5001..15594
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_692

mRNA and Protein(s)

  1. NM_006493.2NP_006484.1  ceroid-lipofuscinosis neuronal protein 5

    See identical proteins and their annotated locations for NP_006484.1

    Status: REVIEWED

    Source sequence(s)
    AF068227
    Consensus CDS
    CCDS9456.1
    UniProtKB/Swiss-Prot
    O75503
    UniProtKB/TrEMBL
    A0A024R644
    Related
    ENSP00000366673.4, OTTHUMP00000275379, ENST00000377453.8, OTTHUMT00000475893
    Conserved Domains (1) summary
    pfam15014
    Location:102398
    CLN5; Ceroid-lipofuscinosis neuronal protein 5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p7 Primary Assembly

    Range
    76991924..77002517
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534917.2XP_011533219.1  ceroid-lipofuscinosis neuronal protein 5 isoform X1

    Related
    ENSP00000489809.1, OTTHUMP00000282247, ENST00000636780.1, OTTHUMT00000489745
    Conserved Domains (1) summary
    pfam15014
    Location:102237
    CLN5; Ceroid-lipofuscinosis neuronal protein 5

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 Alternate CHM1_1.1

    Range
    77533965..77544558
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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