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CLN5 CLN5 intracellular trafficking protein [ Homo sapiens (human) ]

Gene ID: 1203, updated on 11-Sep-2019

Summary

Official Symbol
CLN5provided by HGNC
Official Full Name
CLN5 intracellular trafficking proteinprovided by HGNC
Primary source
HGNC:HGNC:2076
See related
Ensembl:ENSG00000102805 MIM:608102
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
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]
Expression
Ubiquitous expression in thyroid (RPKM 44.6), kidney (RPKM 19.6) and 24 other tissues See more
Orthologs

Genomic context

See CLN5 in Genome Data Viewer
Location:
13q22.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (76992081..77005117)
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 Neighboring gene MYCBP2 antisense RNA 1 Neighboring gene uncharacterized LOC107984564

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 HDA 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 

General protein information

Preferred Names
ceroid-lipofuscinosis neuronal protein 5
Names
ceroid-lipofuscinosis, neuronal 5

NCBI Reference Sequences (RefSeq)

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_001366624.2NP_001353553.1  ceroid-lipofuscinosis neuronal protein 5 isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC001226
    Related
    ENSP00000489809.2, ENST00000636780.2
    Conserved Domains (1) summary
    pfam15014
    Location:53188
    CLN5; Ceroid-lipofuscinosis neuronal protein 5
  2. NM_006493.4NP_006484.2  ceroid-lipofuscinosis neuronal protein 5 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC001226
    Consensus CDS
    CCDS9456.1
    Related
    ENSP00000490181.2, ENST00000636183.2
    Conserved Domains (1) summary
    pfam15014
    Location:53349
    CLN5; Ceroid-lipofuscinosis neuronal protein 5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    76992081..77005117
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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